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Genes, Volume 10, Issue 2 (February 2019) – 106 articles

Cover Story (view full-size image): Observations of chemo/radio-resistant cells undergoing reversible polyploidy presented in this issue by Salmina et al. in the article “The cancer aneuploidy paradox: In the light of evolution” address this paradox. Through a dysfunctional spindle, cancer stem cells segregate parental groups of end-to-end linked dyads originating tetraploid cells. This is followed by autokaryogamy, pairing and recombination at centromeres in the octoploid endo-prophase. The process is completed by reduction divisions and release of secondary cells. It shares features with asexual ploidy cycles seen earlier in evolution, facilitating a reduction in the mutational load of aneuploidy. The image shows a polyploid endometaphase of a lymphoma cell on day 7 post 10 Gy irradiation which displays 16 chromosomes #18 as revealed by tri-colour FISH (short arm, green; centre red; long arm terminus blue). View this paper.
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15 pages, 3539 KiB  
Article
Genome-Wide Identification and Characterization of Olfactory Receptor Genes in Chinese Perch, Siniperca chuatsi
by Li-Yuan Lv, Xu-Fang Liang and Shan He
Genes 2019, 10(2), 178; https://doi.org/10.3390/genes10020178 - 25 Feb 2019
Cited by 23 | Viewed by 3924
Abstract
Olfaction, which is mediated by olfactory receptor (OR) genes, is essential in the daily life of fish, especially in foraging. However, Chinese perch (Siniperca chuatsi) is believed to prey with reliance on vision and lateral sensation, but not on olfaction. Therefore, [...] Read more.
Olfaction, which is mediated by olfactory receptor (OR) genes, is essential in the daily life of fish, especially in foraging. However, Chinese perch (Siniperca chuatsi) is believed to prey with reliance on vision and lateral sensation, but not on olfaction. Therefore, understanding the evolutionary dynamics of the Chinese perch OR repertoire could provide insights into genetic evidence for adapting to a decreasing reliance on olfaction. Here, we reported a whole-genome analysis of the Chinese perch OR repertoire. Our analysis identified a total of 152 OR genes, including 123 functional genes and 29 pseudogenes, and showed their genomic organization. A phylogenetic tree was constructed, and the phylogenetic relationships of teleosts ORs was illustrated. The dN/dS (global ratios of non-synonymous to synonymous) analysis demonstrated that OR groups all appeared to be under purifying selection. Among the five Percomorpha fishes, Chinese perch only had 22 subfamilies, suggesting a decrease in OR diversities. The species-specific loss of subfamily 56 and 66 in Chinese perch, of which the genes belonged to subfamily 66, were orthologs of OR51E2, which recognized the plant odorant β-ionone, indicating that extremely piscivorous fish which might lose those receptors responded to plant-related odors. Finally, the expression profiles of OR genes in the olfactory epithelium at different developmental stages were investigated using RNA-seq data. From the aforementioned results, the evolution of the OR repertoire may be shaped by the adaption of vision-dependent specializations for foraging in Chinese perch. The first systematic study of OR genes in Chinese perch could provide valuable genomic resources for the further investigation of olfactory function in teleosts. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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15 pages, 2113 KiB  
Article
Identification of Essential Proteins Based on Improved HITS Algorithm
by Xiujuan Lei, Siguo Wang and Fangxiang Wu
Genes 2019, 10(2), 177; https://doi.org/10.3390/genes10020177 - 25 Feb 2019
Cited by 13 | Viewed by 2953
Abstract
Essential proteins are critical to the development and survival of cells. Identifying and analyzing essential proteins is vital to understand the molecular mechanisms of living cells and design new drugs. With the development of high-throughput technologies, many protein–protein interaction (PPI) data are available, [...] Read more.
Essential proteins are critical to the development and survival of cells. Identifying and analyzing essential proteins is vital to understand the molecular mechanisms of living cells and design new drugs. With the development of high-throughput technologies, many protein–protein interaction (PPI) data are available, which facilitates the studies of essential proteins at the network level. Up to now, although various computational methods have been proposed, the prediction precision still needs to be improved. In this paper, we propose a novel method by applying Hyperlink-Induced Topic Search (HITS) on weighted PPI networks to detect essential proteins, named HSEP. First, an original undirected PPI network is transformed into a bidirectional PPI network. Then, both biological information and network topological characteristics are taken into account to weighted PPI networks. Pieces of biological information include gene expression data, Gene Ontology (GO) annotation and subcellular localization. The edge clustering coefficient is represented as network topological characteristics to measure the closeness of two connected nodes. We conducted experiments on two species, namely Saccharomyces cerevisiae and Drosophila melanogaster, and the experimental results show that HSEP outperformed some state-of-the-art essential proteins detection techniques. Full article
(This article belongs to the Special Issue Novel Approaches in Protein Structure Prediction)
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22 pages, 1259 KiB  
Review
Role of β-Catenin Activation Levels and Fluctuations in Controlling Cell Fate
by Elisa Pedone and Lucia Marucci
Genes 2019, 10(2), 176; https://doi.org/10.3390/genes10020176 - 25 Feb 2019
Cited by 26 | Viewed by 6556
Abstract
Cells have developed numerous adaptation mechanisms to external cues by controlling signaling-pathway activity, both qualitatively and quantitatively. The Wnt/β-catenin pathway is a highly conserved signaling pathway involved in many biological processes, including cell proliferation, differentiation, somatic cell reprogramming, development, and cancer. The activity [...] Read more.
Cells have developed numerous adaptation mechanisms to external cues by controlling signaling-pathway activity, both qualitatively and quantitatively. The Wnt/β-catenin pathway is a highly conserved signaling pathway involved in many biological processes, including cell proliferation, differentiation, somatic cell reprogramming, development, and cancer. The activity of the Wnt/β-catenin pathway and the temporal dynamics of its effector β-catenin are tightly controlled by complex regulations. The latter encompass feedback loops within the pathway (e.g., a negative feedback loop involving Axin2, a β-catenin transcriptional target) and crosstalk interactions with other signaling pathways. Here, we provide a review shedding light on the coupling between Wnt/β-catenin activation levels and fluctuations across processes and cellular systems; in particular, we focus on development, in vitro pluripotency maintenance, and cancer. Possible mechanisms originating Wnt/β-catenin dynamic behaviors and consequently driving different cellular responses are also reviewed, and new avenues for future research are suggested. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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16 pages, 1434 KiB  
Article
On the Close Relatedness of Two Rice-Parasitic Root-Knot Nematode Species and the Recent Expansion of Meloidogyne graminicola in Southeast Asia
by Guillaume Besnard, Ngan Thi-Phan, Hai Ho-Bich, Alexis Dereeper, Hieu Trang Nguyen, Patrick Quénéhervé, Jamel Aribi and Stéphane Bellafiore
Genes 2019, 10(2), 175; https://doi.org/10.3390/genes10020175 - 25 Feb 2019
Cited by 14 | Viewed by 3924
Abstract
Meloidogyne graminicola is a facultative meiotic parthenogenetic root-knot nematode (RKN) that seriously threatens agriculture worldwide. We have little understanding of its origin, genomic structure, and intraspecific diversity. Such information would offer better knowledge of how this nematode successfully damages rice in many different [...] Read more.
Meloidogyne graminicola is a facultative meiotic parthenogenetic root-knot nematode (RKN) that seriously threatens agriculture worldwide. We have little understanding of its origin, genomic structure, and intraspecific diversity. Such information would offer better knowledge of how this nematode successfully damages rice in many different environments. Previous studies on nuclear ribosomal DNA (nrDNA) suggested a close phylogenetic relationship between M. graminicola and Meloidogyne oryzae, despite their different modes of reproduction and geographical distribution. In order to clarify the evolutionary history of these two species and explore their molecular intraspecific diversity, we sequenced the genome of 12 M. graminicola isolates, representing populations of worldwide origins, and two South American isolates of M. oryzae. k-mer analysis of their nuclear genome and the detection of divergent homologous genomic sequences indicate that both species show a high proportion of heterozygous sites (ca. 1–2%), which had never been previously reported in facultative meiotic parthenogenetic RKNs. These analyses also point to a distinct ploidy level in each species, compatible with a diploid M. graminicola and a triploid M. oryzae. Phylogenetic analyses of mitochondrial genomes and three nuclear genomic sequences confirm close relationships between these two species, with M. graminicola being a putative parent of M. oryzae. In addition, comparative mitogenomics of those 12 M. graminicola isolates with a Chinese published isolate reveal only 15 polymorphisms that are phylogenetically non-informative. Eight mitotypes are distinguished, the most common one being shared by distant populations from Asia and America. This low intraspecific diversity, coupled with a lack of phylogeographic signal, suggests a recent worldwide expansion of M. graminicola. Full article
(This article belongs to the Special Issue Mitochondrial Genomes: Genetic and Transcriptomic Studies)
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15 pages, 4794 KiB  
Article
Identification of Potential Genes Responsible for Thermotolerance in Wheat under High Temperature Stress
by Peipei Su, Cai Jiang, Hao Qin, Rui Hu, Jialu Feng, Junli Chang, Guangxiao Yang and Guangyuan He
Genes 2019, 10(2), 174; https://doi.org/10.3390/genes10020174 - 25 Feb 2019
Cited by 23 | Viewed by 4011
Abstract
Wheat, a major worldwide staple food crop, is relatively sensitive to a changing environment, including high temperature. The comprehensive mechanism of heat stress response at the molecular level and exploitation of candidate tolerant genes are far from enough. Using transcriptome data, we analyzed [...] Read more.
Wheat, a major worldwide staple food crop, is relatively sensitive to a changing environment, including high temperature. The comprehensive mechanism of heat stress response at the molecular level and exploitation of candidate tolerant genes are far from enough. Using transcriptome data, we analyzed the gene expression profiles of wheat under heat stress. A total of 1705 and 17 commonly differential expressed genes (DEGs) were identified in wheat grain and flag leaf, respectively, through transcriptome analysis. Gene Ontology (GO) and pathway enrichment were also applied to illustrate the functions and metabolic pathways of DEGs involved in thermotolerance of wheat grain and flag leaf. Furthermore, our data suggest that there may be a more complex molecular mechanism or tighter regulatory network in flag leaf than in grain under heat stress over time, as less commonly DEGs, more discrete expression profiles of genes (principle component analysis) and less similar pathway response were observed in flag leaf. In addition, we found that transcriptional regulation of zeatin, brassinosteroid and flavonoid biosynthesis pathways may play an important role in wheat’s heat tolerance. The expression changes of some genes were validated using quantitative real-time polymerase chain reaction and three potential genes involved in the flavonoid biosynthesis process were identified. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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18 pages, 1279 KiB  
Review
The Roles of Human DNA Methyltransferases and Their Isoforms in Shaping the Epigenome
by Hemant Gujar, Daniel J. Weisenberger and Gangning Liang
Genes 2019, 10(2), 172; https://doi.org/10.3390/genes10020172 - 23 Feb 2019
Cited by 121 | Viewed by 15784
Abstract
A DNA sequence is the hard copy of the human genome and it is a driving force in determining the physiological processes in an organism. Concurrently, the chemical modification of the genome and its related histone proteins is dynamically involved in regulating physiological [...] Read more.
A DNA sequence is the hard copy of the human genome and it is a driving force in determining the physiological processes in an organism. Concurrently, the chemical modification of the genome and its related histone proteins is dynamically involved in regulating physiological processes and diseases, which overall constitutes the epigenome network. Among the various forms of epigenetic modifications, DNA methylation at the C-5 position of cytosine in the cytosine–guanine (CpG) dinucleotide is one of the most well studied epigenetic modifications. DNA methyltransferases (DNMTs) are a family of enzymes involved in generating and maintaining CpG methylation across the genome. In mammalian systems, DNA methylation is performed by DNMT1 and DNMT3s (DNMT3A and 3B). DNMT1 is predominantly involved in the maintenance of DNA methylation during cell division, while DNMT3s are involved in establishing de novo cytosine methylation and maintenance in both embryonic and somatic cells. In general, all DNMTs require accessory proteins, such as ubiquitin-like containing plant homeodomain (PHD) and really interesting new gene (RING) finger domain 1 (UHRF1) or DNMT3-like (DNMT3L), for their biological function. This review mainly focuses on the role of DNMT3B and its isoforms in de novo methylation and maintenance of DNA methylation, especially with respect to their role as an accessory protein. Full article
(This article belongs to the Special Issue Role of DNA Methyltransferases in the Epigenome)
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13 pages, 3716 KiB  
Article
IPCT: Integrated Pharmacogenomic Platform of Human Cancer Cell Lines and Tissues
by Muhammad Shoaib, Adnan Ahmad Ansari, Farhan Haq and Sung Min Ahn
Genes 2019, 10(2), 171; https://doi.org/10.3390/genes10020171 - 22 Feb 2019
Cited by 3 | Viewed by 3669
Abstract
(1) Motivation: The exponential increase in multilayered data, including omics, pathways, chemicals, and experimental models, requires innovative strategies to identify new linkages between drug response information and omics features. Despite the availability of databases such as the Cancer Cell Line Encyclopedia (CCLE), [...] Read more.
(1) Motivation: The exponential increase in multilayered data, including omics, pathways, chemicals, and experimental models, requires innovative strategies to identify new linkages between drug response information and omics features. Despite the availability of databases such as the Cancer Cell Line Encyclopedia (CCLE), the Cancer Therapeutics Response Portal (CTRP), and The Cancer Genome Atlas (TCGA), it is still challenging for biologists to explore the relationship between drug response and underlying genomic features due to the heterogeneity of the data. In light of this, the Integrated Pharmacogenomic Database of Cancer Cell Lines and Tissues (IPCT) has been developed as a user-friendly way to identify new linkages between drug responses and genomic features, as these findings can lead not only to new biological discoveries but also to new clinical trials. (2) Results: The IPCT allows biologists to compare the genomic features of sensitive cell lines or small molecules with the genomic features of tumor tissues by integrating the CTRP and CCLE databases with the REACTOME, cBioPortal, and Expression Atlas databases. The input consists of a list of small molecules, cell lines, or genes, and the output is a graph containing data entities connected with the queried input. Users can apply filters to the databases, pathways, and genes as well as select computed sensitivity values and mutation frequency scores to generate a relevant graph. Different objects are differentiated based on the background color of the nodes. Moreover, when multiple small molecules, cell lines, or genes are input, users can see their shared connections to explore the data entities common between them. Finally, users can view the resulting graphs in the online interface or download them in multiple image or graph formats. (3) Availability and Implementation: The IPCT is available as a web application with an integrated MySQL database. The web application was developed using Java and deployed on the Tomcat server. The user interface was developed using HTML5, JQuery v.3.1.0, and the Cytoscape Graph API v.1.0.4. The IPCT web and the source code are available in Sample Availability section. Full article
(This article belongs to the Special Issue Systems Analytics and Integration of Big Omics Data)
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25 pages, 2499 KiB  
Review
Holding All the Cards—How Fanconi Anemia Proteins Deal with Replication Stress and Preserve Genomic Stability
by Arindam Datta and Robert M. Brosh, Jr.
Genes 2019, 10(2), 170; https://doi.org/10.3390/genes10020170 - 22 Feb 2019
Cited by 41 | Viewed by 7323
Abstract
Fanconi anemia (FA) is a hereditary chromosomal instability disorder often displaying congenital abnormalities and characterized by a predisposition to progressive bone marrow failure (BMF) and cancer. Over the last 25 years since the discovery of the first linkage of genetic mutations to FA, [...] Read more.
Fanconi anemia (FA) is a hereditary chromosomal instability disorder often displaying congenital abnormalities and characterized by a predisposition to progressive bone marrow failure (BMF) and cancer. Over the last 25 years since the discovery of the first linkage of genetic mutations to FA, its molecular genetic landscape has expanded tremendously as it became apparent that FA is a disease characterized by a defect in a specific DNA repair pathway responsible for the correction of covalent cross-links between the two complementary strands of the DNA double helix. This pathway has become increasingly complex, with the discovery of now over 20 FA-linked genes implicated in interstrand cross-link (ICL) repair. Moreover, gene products known to be involved in double-strand break (DSB) repair, mismatch repair (MMR), and nucleotide excision repair (NER) play roles in the ICL response and repair of associated DNA damage. While ICL repair is predominantly coupled with DNA replication, it also can occur in non-replicating cells. DNA damage accumulation and hematopoietic stem cell failure are thought to contribute to the increased inflammation and oxidative stress prevalent in FA. Adding to its confounding nature, certain FA gene products are also engaged in the response to replication stress, caused endogenously or by agents other than ICL-inducing drugs. In this review, we discuss the mechanistic aspects of the FA pathway and the molecular defects leading to elevated replication stress believed to underlie the cellular phenotypes and clinical features of FA. Full article
(This article belongs to the Special Issue Chromosome Replication and Genome Integrity)
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14 pages, 2058 KiB  
Article
The Effect of DNA Topology on Observed Rates of R-Loop Formation and DNA Strand Cleavage by CRISPR Cas12a
by Kara van Aelst, Carlos J. Martínez-Santiago, Stephen J. Cross and Mark D. Szczelkun
Genes 2019, 10(2), 169; https://doi.org/10.3390/genes10020169 - 22 Feb 2019
Cited by 18 | Viewed by 5190
Abstract
Here we explored the mechanism of R-loop formation and DNA cleavage by type V CRISPR Cas12a (formerly known as Cpf1). We first used a single-molecule magnetic tweezers (MT) assay to show that R-loop formation by Lachnospiraceae bacterium ND2006 Cas12a is significantly enhanced by [...] Read more.
Here we explored the mechanism of R-loop formation and DNA cleavage by type V CRISPR Cas12a (formerly known as Cpf1). We first used a single-molecule magnetic tweezers (MT) assay to show that R-loop formation by Lachnospiraceae bacterium ND2006 Cas12a is significantly enhanced by negative DNA supercoiling, as observed previously with Streptococcus thermophilus DGCC7710 CRISPR3 Cas9. Consistent with the MT data, the apparent rate of cleavage of supercoiled plasmid DNA was observed to be >50-fold faster than the apparent rates for linear DNA or nicked circular DNA because of topology-dependent differences in R-loop formation kinetics. Taking the differences into account, the cleavage data for all substrates can be fitted with the same apparent rate constants for the two strand-cleavage steps, with the first event >15-fold faster than the second. By independently following the ensemble cleavage of the non-target strand (NTS) and target strand (TS), we could show that the faster rate is due to NTS cleavage, the slower rate due to TS cleavage, as expected from previous studies. Full article
(This article belongs to the Special Issue CRISPR-Cas: Interactions with Genome and Physiological Maintenance)
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10 pages, 3066 KiB  
Article
A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog
by Kathryn M. Meurs, Steven G. Friedenberg, Natasha J. Olby, Julia Condit, Jess Weidman, Steve Rosenthal and G. Diane Shelton
Genes 2019, 10(2), 168; https://doi.org/10.3390/genes10020168 - 21 Feb 2019
Cited by 11 | Viewed by 5363
Abstract
The QIl1 gene produces a component of the Mitochondrial Contact Site and Cristae Organizing System that forms and stabilizes mitochondrial cristae junctions and is important in cellular energy production. We previously reported a family of Rhodesian Ridgebacks with cardiac arrhythmias and sudden cardiac [...] Read more.
The QIl1 gene produces a component of the Mitochondrial Contact Site and Cristae Organizing System that forms and stabilizes mitochondrial cristae junctions and is important in cellular energy production. We previously reported a family of Rhodesian Ridgebacks with cardiac arrhythmias and sudden cardiac death. Here, we performed whole genome sequencing on a trio from the family. Variant calling was performed using a standardized bioinformatics approach. Variants were filtered against variants from 247 dogs of 43 different breeds. High impact variants were validated against additional affected and unaffected dogs. A single missense G/A variant in the QIL1 gene was associated with the cardiac arrhythmia (p < 0.0001). The variant was predicted to change the amino acid from conserved Glycine to Serine and to be deleterious. Ultrastructural analysis of the biceps femoris muscle from an affected dog revealed hyperplastic mitochondria, cristae rearrangement, electron dense inclusions and lipid bodies. We identified a variant in the Q1l1 gene resulting in a mitochondrial cardiomyopathy characterized by cristae abnormalities and cardiac arrhythmias in a canine model. This natural animal model of mitochondrial cardiomyopathy provides a large animal model with which to study the development and progression of disease as well as genotypic phenotypic relationships. Full article
(This article belongs to the Special Issue Canine Genetics)
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25 pages, 2308 KiB  
Review
DNA Replication Through Strand Displacement During Lagging Strand DNA Synthesis in Saccharomyces cerevisiae
by Michele Giannattasio and Dana Branzei
Genes 2019, 10(2), 167; https://doi.org/10.3390/genes10020167 - 21 Feb 2019
Cited by 8 | Viewed by 8199
Abstract
This review discusses a set of experimental results that support the existence of extended strand displacement events during budding yeast lagging strand DNA synthesis. Starting from introducing the mechanisms and factors involved in leading and lagging strand DNA synthesis and some aspects of [...] Read more.
This review discusses a set of experimental results that support the existence of extended strand displacement events during budding yeast lagging strand DNA synthesis. Starting from introducing the mechanisms and factors involved in leading and lagging strand DNA synthesis and some aspects of the architecture of the eukaryotic replisome, we discuss studies on bacterial, bacteriophage and viral DNA polymerases with potent strand displacement activities. We describe proposed pathways of Okazaki fragment processing via short and long flaps, with a focus on experimental results obtained in Saccharomyces cerevisiae that suggest the existence of frequent and extended strand displacement events during eukaryotic lagging strand DNA synthesis, and comment on their implications for genome integrity. Full article
(This article belongs to the Special Issue Chromosome Replication and Genome Integrity)
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10 pages, 388 KiB  
Article
Lifespans of Twins: Does Zygosity Matter?
by Jacob Hjelmborg, Pia Larsen, Jaakko Kaprio, Matt McGue, Thomas Scheike, Philip Hougaard and Kaare Christensen
Genes 2019, 10(2), 166; https://doi.org/10.3390/genes10020166 - 20 Feb 2019
Cited by 8 | Viewed by 3659
Abstract
Studies with twins provide fundamental insights to lifespans of humans. We aim to clarify if monozygotic and dizygotic twin individuals differ in lifespan, that is, if zygosity matters. We investigate whether a possible difference in mortality after infancy between zygosities is stable in [...] Read more.
Studies with twins provide fundamental insights to lifespans of humans. We aim to clarify if monozygotic and dizygotic twin individuals differ in lifespan, that is, if zygosity matters. We investigate whether a possible difference in mortality after infancy between zygosities is stable in different age cohorts, and whether the difference remains when twins with unknown zygosity are taken into account. Further, we compare the distribution of long-livers, that is, the upper-tail of the lifespan distribution, between monozygotic and same-sex dizygotic twin individuals. The Danish Twin Registry provides a nationwide cohort of 109,303 twins born during 1870 to 1990 with valid vital status. Standard survival analysis is used to compare mortality in monozygotic and dizygotic twin individuals and twin individuals with unknown zygosity. The mortality of monozygotic and dizygotic twin individuals differs slightly after taking into consideration effects of birth- and age-cohorts, gender differences, and that twins are paired. However, no substantial nor systematic differences remain when taking twins with unknown zygosity into account. Further, the distribution of long-livers is very similar by zygosity, suggesting the same mortality process. The population-based and oldest twin cohort ever studied suggests that monozygotic and dizygotic twins have similar lifespans. Full article
(This article belongs to the Special Issue Genetic Determinants of Human Longevity)
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15 pages, 4090 KiB  
Article
Genome-Wide Analysis of Auxin Receptor Family Genes in Brassica juncea var. tumida
by Zhaoming Cai, De-er Zeng, Jingjing Liao, Chunhong Cheng, Zulfiqar Ali Sahito, Meiqin Xiang, Min Fu, Yuanqing Chen and Diandong Wang
Genes 2019, 10(2), 165; https://doi.org/10.3390/genes10020165 - 20 Feb 2019
Cited by 18 | Viewed by 3694
Abstract
Transport inhibitor response 1/auxin signaling f-box proteins (TIR1/AFBs) play important roles in the process of plant growth and development as auxin receptors. To date, no information has been available about the characteristics of the TIR1/AFB gene family in Brassica juncea var. tumida. [...] Read more.
Transport inhibitor response 1/auxin signaling f-box proteins (TIR1/AFBs) play important roles in the process of plant growth and development as auxin receptors. To date, no information has been available about the characteristics of the TIR1/AFB gene family in Brassica juncea var. tumida. In this study, 18 TIR1/AFB genes were identified and could be clustered into six groups. The genes are located in 11 of 18 chromosomes in the genome of B. juncea var. tumida, and similar gene structures are found for each of those genes. Several cis-elements related to plant response to phytohormones, biotic stresses, and abiotic stresses are found in the promoter of BjuTIR1/AFB genes. The results of qPCR analysis show that most genes have differential patterns of expression among six tissues, with the expression levels of some of the genes repressed by salt stress treatment. Some of the genes are also responsive to pathogen Plasmodiophora brassicae treatment. This study provides valuable information for further studies as to the role of BjuTIR1/AFB genes in the regulation of plant growth, development, and response to abiotic stress. Full article
(This article belongs to the Special Issue Hormonal Control of Gene Expression in Plants)
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28 pages, 8733 KiB  
Article
Insight into the B3Transcription Factor Superfamily and Expression Profiling of B3 Genes in Axillary Buds after Topping in Tobacco (Nicotiana tabacum L.)
by Fei Xia, Tingting Sun, Shuangjuan Yang, Xiao Wang, Jiangtao Chao, Xiaoxu Li, Junhua Hu, Mengmeng Cui, Guanshan Liu, Dawei Wang and Yuhe Sun
Genes 2019, 10(2), 164; https://doi.org/10.3390/genes10020164 - 20 Feb 2019
Cited by 20 | Viewed by 4251
Abstract
Members of the plant-specific B3 transcription factor superfamily play important roles in various growth and developmental processes in plants. Even though there are many valuable studies on B3 genes in other species, little is known about the B3 superfamily in tobacco. We identified [...] Read more.
Members of the plant-specific B3 transcription factor superfamily play important roles in various growth and developmental processes in plants. Even though there are many valuable studies on B3 genes in other species, little is known about the B3 superfamily in tobacco. We identified 114 B3 proteins from tobacco using comparative genome analysis. These proteins were classified into four subfamilies based on their phylogenetic relationships, and include the ARF, RAV, LAV, and REM subfamilies. The chromosomal locations, gene structures, conserved protein motifs, and sub-cellular localizations of the tobacco B3 proteins were analyzed. The patterns of exon-intron numbers and arrangement and the protein structures of the tobacco B3 proteins were in general agreement with their phylogenetic relationships. The expression patterns of 114 B3 genes revealed that many B3 genes show tissue-specific expression. The expression levels of B3 genes in axillary buds after topping showed that the REM genes are mainly up-regulated in response to topping, while the ARF genes are down-regulated after topping. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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13 pages, 3095 KiB  
Article
Overexpression of AtWRKY30 Transcription Factor Enhances Heat and Drought Stress Tolerance in Wheat (Triticum aestivum L.)
by Mohamed A. El-Esawi, Abdullah A. Al-Ghamdi, Hayssam M. Ali and Margaret Ahmad
Genes 2019, 10(2), 163; https://doi.org/10.3390/genes10020163 - 20 Feb 2019
Cited by 123 | Viewed by 7112
Abstract
Drought and heat factors have negative impacts on wheat yield and growth worldwide. Improving wheat tolerance to heat and drought stress is of the utmost importance to maintain crop yield. WRKY transcription factors help improve plant resistance to environmental factors. In this investigation, [...] Read more.
Drought and heat factors have negative impacts on wheat yield and growth worldwide. Improving wheat tolerance to heat and drought stress is of the utmost importance to maintain crop yield. WRKY transcription factors help improve plant resistance to environmental factors. In this investigation, Arabidopsis WRKY30 (AtWRKY30) transcription factor was cloned and expressed in wheat. Plants growth, biomass, gas-exchange attributes, chlorophyll content, relative water content, prolines content, soluble proteins content, soluble sugars content, and antioxidant enzymes activities (catalase (CAT), superoxide dismutase (SOD), peroxidase (POX), and ascorbate peroxidase (APX)) of the AtWRKY30-overexpressing wheat plants were higher than those of the wild type. However, levels of electrolyte leakage, malondialdehyde, and hydrogen peroxide of the AtWRKY30-overexpressing wheat plants were significantly less than those of the wild-type. Additionally, the expression level of antioxidant enzyme-encoding genes and stress-responsive genes (ERF5a, DREB1, DREB3, WRKY19, TIP2, and AQP7) were significantly induced in the transgenic wheat plants in comparison with the wild type. In conclusion, the results demonstrated that AtWRKY30 overexpression promotes heat and drought tolerance in wheat by inducing gas-exchange attributes, antioxidant machinery, osmolytes biosynthesis, and stress-related gene expression. AtWRKY30 could serve as a potential candidate gene for improving stress tolerance in wheat. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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11 pages, 854 KiB  
Article
Whole-Genome Analysis of Domestic Chicken Selection Lines Suggests Segregating Variation in ERV Makeups
by Mats E. Pettersson and Patric Jern
Genes 2019, 10(2), 162; https://doi.org/10.3390/genes10020162 - 20 Feb 2019
Cited by 7 | Viewed by 4518
Abstract
Retroviruses have invaded vertebrate hosts for millions of years and left an extensive endogenous retrovirus (ERV) record in the host genomes, which provides a remarkable source for an evolutionary perspective on retrovirus-host associations. Here we identified ERV variation across whole-genomes from two chicken [...] Read more.
Retroviruses have invaded vertebrate hosts for millions of years and left an extensive endogenous retrovirus (ERV) record in the host genomes, which provides a remarkable source for an evolutionary perspective on retrovirus-host associations. Here we identified ERV variation across whole-genomes from two chicken lines, derived from a common founder population subjected to 50 years of bi-directional selection on body weight, and a distantly related domestic chicken line as a comparison outgroup. Candidate ERV loci, where at least one of the chicken lines indicated distinct differences, were analyzed for adjacent host genomic landscapes, selective sweeps, and compared by sequence associations to reference assembly ERVs in phylogenetic analyses. Current data does not support selection acting on specific ERV loci in the domestic chicken lines, as determined by presence inside selective sweeps or composition of adjacent host genes. The varying ERV records among the domestic chicken lines associated broadly across the assembly ERV phylogeny, indicating that the observed insertion differences result from pre-existing and segregating ERV loci in the host populations. Thus, data suggest that the observed differences between the host lineages are best explained by substantial standing ERV variation within host populations, and indicates that even truncated, presumably old, ERVs have not yet become fixed in the host population. Full article
(This article belongs to the Special Issue Repetitive DNA Sequences)
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4 pages, 168 KiB  
Editorial
Evolution, Composition and Regulation of Supernumerary B Chromosomes
by Andreas Houben, Neil Jones, Cesar Martins and Vladimir Trifonov
Genes 2019, 10(2), 161; https://doi.org/10.3390/genes10020161 - 20 Feb 2019
Cited by 17 | Viewed by 3717
Abstract
Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi [...] Full article
(This article belongs to the Special Issue Evolution, Composition and Regulation of Supernumerary B Chromosomes)
19 pages, 3075 KiB  
Article
Satellite DNA Mapping in Pseudis fusca (Hylidae, Pseudinae) Provides New Insights into Sex Chromosome Evolution in Paradoxical Frogs
by Kaleb Pretto Gatto, Karin Regina Seger, Paulo Christiano de Anchieta Garcia and Luciana Bolsoni Lourenço
Genes 2019, 10(2), 160; https://doi.org/10.3390/genes10020160 - 19 Feb 2019
Cited by 6 | Viewed by 3647
Abstract
In the frog genus Pseudis, previous works found a sex-linked heteromorphism of the PcP190 satellite DNA in the nucleolus organizer region (NOR)-bearing chromosome pairs of Pseudis bolbodactyla and Pseudis tocantins, which possess a ZZ/ZW sex determination system. A pericentromeric inversion was [...] Read more.
In the frog genus Pseudis, previous works found a sex-linked heteromorphism of the PcP190 satellite DNA in the nucleolus organizer region (NOR)-bearing chromosome pairs of Pseudis bolbodactyla and Pseudis tocantins, which possess a ZZ/ZW sex determination system. A pericentromeric inversion was inferred to have occurred during W chromosome evolution, moving a chromosomal cluster enriched by the PcP190 from the short arm (as observed in P. bolbodactyla) to the NOR-bearing long arm (as observed in P. tocantins). However, whether such an inversion happened in P. tocantins or in the common ancestor of Pseudis fusca and P. tocantins remained unclear. To assess this question, we mapped PcP190 in the karyotype of P. fusca from three distinct localities. Southern blotting was used to compare males and females. The mitochondrial H1 fragment (which contains the 12S ribosomal RNA (rRNA), tRNAval, and 16S rRNA genes) and cytochrome b gene were partially sequenced, and a species tree was inferred to guide our analysis. Pseudis fusca specimens were placed together as the sister group of P. tocantins, but based on genetic distance, one of the analyzed populations is probably an undescribed species. A cluster of PcP190, located in the long arm of chromosome 7, is sex linked in this putative new species but not in the remaining P. fusca. We could infer that the pericentromeric inversion that moved the PcP190 site to the NOR-bearing chromosome arm (long arm) occurred in the common ancestor of P. fusca, the putative undescribed species, and P. tocantins. Full article
(This article belongs to the Special Issue Evolutionary Genetics of Reptiles and Amphibians)
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17 pages, 4489 KiB  
Article
Inferring Drug-Protein–Side Effect Relationships from Biomedical Text
by Min Song, Seung Han Baek, Go Eun Heo and Jeong-Hoon Lee
Genes 2019, 10(2), 159; https://doi.org/10.3390/genes10020159 - 19 Feb 2019
Cited by 7 | Viewed by 3049
Abstract
Background: Although there are many studies of drugs and their side effects, the underlying mechanisms of these side effects are not well understood. It is also difficult to understand the specific pathways between drugs and side effects. Objective: The present study [...] Read more.
Background: Although there are many studies of drugs and their side effects, the underlying mechanisms of these side effects are not well understood. It is also difficult to understand the specific pathways between drugs and side effects. Objective: The present study seeks to construct putative paths between drugs and their side effects by applying text-mining techniques to free text of biomedical studies, and to develop ranking metrics that could identify the most-likely paths. Materials and Methods: We extracted three types of relationships—drug-protein, protein-protein, and protein–side effect—from biomedical texts by using text mining and predefined relation-extraction rules. Based on the extracted relationships, we constructed whole drug-protein–side effect paths. For each path, we calculated its ranking score by a new ranking function that combines corpus- and ontology-based semantic similarity as well as co-occurrence frequency. Results: We extracted 13 plausible biomedical paths connecting drugs and their side effects from cancer-related abstracts in the PubMed database. The top 20 paths were examined, and the proposed ranking function outperformed the other methods tested, including co-occurrence, COALS, and UMLS by P@5-P@20. In addition, we confirmed that the paths are novel hypotheses that are worth investigating further. Discussion: The risk of side effects has been an important issue for the US Food and Drug Administration (FDA). However, the causes and mechanisms of such side effects have not been fully elucidated. This study extends previous research on understanding drug side effects by using various techniques such as Named Entity Recognition (NER), Relation Extraction (RE), and semantic similarity. Conclusion: It is not easy to reveal the biomedical mechanisms of side effects due to a huge number of possible paths. However, we automatically generated predictable paths using the proposed approach, which could provide meaningful information to biomedical researchers to generate plausible hypotheses for the understanding of such mechanisms. Full article
(This article belongs to the Special Issue Bioinformatic Analysis for Rare Diseases)
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12 pages, 4354 KiB  
Article
A Magnesium Transport Protein Related to Mammalian SLC41 and Bacterial MgtE Contributes to Circadian Timekeeping in a Unicellular Green Alga
by Helen K. Feord, Frederick E.G. Dear, Darren J. Obbard and Gerben van Ooijen
Genes 2019, 10(2), 158; https://doi.org/10.3390/genes10020158 - 19 Feb 2019
Cited by 6 | Viewed by 3114
Abstract
Circadian clocks in eukaryotes involve both transcriptional-translational feedback loops, post-translational regulation, and metabolic, non-transcriptional oscillations. We recently identified the involvement of circadian oscillations in the intracellular concentrations of magnesium ions ([Mg2+]i) that were conserved in three eukaryotic kingdoms. [Mg [...] Read more.
Circadian clocks in eukaryotes involve both transcriptional-translational feedback loops, post-translational regulation, and metabolic, non-transcriptional oscillations. We recently identified the involvement of circadian oscillations in the intracellular concentrations of magnesium ions ([Mg2+]i) that were conserved in three eukaryotic kingdoms. [Mg2+]i in turn contributes to transcriptional clock properties of period and amplitude, and can function as a zeitgeber to define phase. However, the mechanism—or mechanisms—responsible for the generation of [Mg2+]i oscillations, and whether these are functionally conserved across taxonomic groups, remain elusive. We employed the cellular clock model Ostreococcus tauri to provide a first study of an MgtE domain-containing protein in the green lineage. OtMgtE shares homology with the mammalian SLC41A1 magnesium/sodium antiporter, which has previously been implicated in maintaining clock period. Using genetic overexpression, we found that OtMgtE contributes to both timekeeping and daily changes in [Mg2+]i. However, pharmacological experiments and protein sequence analyses indicated that critical differences exist between OtMgtE and either the ancestral MgtE channel or the mammalian SLC41 antiporters. We concluded that even though MgtE domain-containing proteins are only distantly related, these proteins retain a shared role in contributing to cellular timekeeping and the regulation of [Mg2+]i. Full article
(This article belongs to the Special Issue Genetic Regulation of Circadian Rhythm in Plants)
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17 pages, 6183 KiB  
Article
Pituitary Transcriptomic Study Reveals the Differential Regulation of lncRNAs and mRNAs Related to Prolificacy in Different FecB Genotyping Sheep
by Jian Zheng, Zhibo Wang, Hua Yang, Xiaolei Yao, Pengcheng Yang, CaiFang Ren, Feng Wang and YanLi Zhang
Genes 2019, 10(2), 157; https://doi.org/10.3390/genes10020157 - 18 Feb 2019
Cited by 45 | Viewed by 3828
Abstract
Long non-coding RNA (LncRNA) have been identified as important regulators in the hypothalamic-pituitary-ovarian axis associated with sheep prolificacy. However, their expression pattern and potential roles in the pituitary are yet unclear. To explore the potential mRNAs and lncRNAs that regulate the expression of [...] Read more.
Long non-coding RNA (LncRNA) have been identified as important regulators in the hypothalamic-pituitary-ovarian axis associated with sheep prolificacy. However, their expression pattern and potential roles in the pituitary are yet unclear. To explore the potential mRNAs and lncRNAs that regulate the expression of the genes involved in sheep prolificacy, we used stranded specific RNA-seq to profile the pituitary transcriptome (lncRNA and mRNA) in high prolificacy (genotype FecB BB, litter size = 3; H) and low prolificacy sheep (genotype FecB B+; litter size = 1; L). Our results showed that 57 differentially expressed (DE) lncRNAs and 298 DE mRNAs were found in the pituitary between the two groups. The qRT-PCR results correlated well with the RNA-seq results. Moreover, functional annotation analysis showed that the target genes of the DE lncRNAs were significantly enriched in pituitary function, hormone-related pathways as well as response to stimulus and some other terms related to reproduction. Furthermore, a co-expression network of lncRNAs and target genes was constructed and reproduction related genes such as SMAD2, NMB and EFNB3 were included. Lastly, the interaction of candidate lncRNA MSTRG.259847.2 and its target gene SMAD2 were validated in vitro of sheep pituitary cells. These differential mRNA and lncRNA expression profiles provide a valuable resource for understanding the molecular mechanisms underlying Hu sheep prolificacy. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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14 pages, 3343 KiB  
Article
Genome-Wide Identification and Analysis of High-Copy-Number LTR Retrotransposons in Asian Pears
by Shuang Jiang, Xiaoqing Wang, Chunhui Shi and Jun Luo
Genes 2019, 10(2), 156; https://doi.org/10.3390/genes10020156 - 18 Feb 2019
Cited by 4 | Viewed by 2866
Abstract
A large proportion of the genome of ‘Suli’ pear (Pyrus pyrifolia) contains long terminal repeat retrotransposons (LTR-RTs), which suggests that LTR-RTs have played important roles in the evolution of Pyrus. Further analysis of retrotransposons, particularly of high-copy-number LTR-RTs in different [...] Read more.
A large proportion of the genome of ‘Suli’ pear (Pyrus pyrifolia) contains long terminal repeat retrotransposons (LTR-RTs), which suggests that LTR-RTs have played important roles in the evolution of Pyrus. Further analysis of retrotransposons, particularly of high-copy-number LTR-RTs in different species, will provide new insights into the evolutionary history of Pyrus. A total of 4912 putative LTR-RTs classified into 198 subfamilies were identified in the ‘Suli’ pear genome. Six Asian pear accessions, including cultivars and wild species, were resequenced. The comparison of copy number for each LTR-RT subfamily was evaluated in Pyrus accessions, and data showed up to four-fold differences for some subfamilies. This contrast suggests different fates for retrotransposon families in the evolution of Pyrus. Fourteen high-copy-number subfamilies were identified in Asian pears, and more than 50% of the LTR-RTs in the genomes of all Pyrus accessions were from these 14 identified LTR-RT subfamilies. Their average insertion time was 3.42 million years ago, which suggests that these subfamilies were recently inserted into the genome. Many homologous and specific retrotransposon insertion sites were identified in oriental and occidental pears, suggesting that the duplication of retrotransposons has occurred throughout almost the entire origin and evolution of Pyrus species. The LTR-RTs show high heterogeneity, and their copy numbers vary in different Pyrus species. Thus, our findings suggest that LTR-RTs are an important source of genetic variation among Pyrus species. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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11 pages, 2098 KiB  
Article
Identification of Differentially Expressed Genes and Pathways for Abdominal Fat Deposition in Ovariectomized and Sham-Operated Chickens
by Xiaopeng Mu, Xiaoyan Cui, Ranran Liu, Qinghe Li, Maiqing Zheng, Guiping Zhao, Changrong Ge, Jie Wen, Yaodong Hu and Huanxian Cui
Genes 2019, 10(2), 155; https://doi.org/10.3390/genes10020155 - 18 Feb 2019
Cited by 6 | Viewed by 4016
Abstract
Ovariectomy results in improved meat quality (growth rate, tenderness, and flavor) of broilers. However, some negative effects increased (abdominal fat (AF) deposition, low feed conversion, etc.) have also been reported. In this study, the gene expression profiles of AF tissue in ovariectomized and [...] Read more.
Ovariectomy results in improved meat quality (growth rate, tenderness, and flavor) of broilers. However, some negative effects increased (abdominal fat (AF) deposition, low feed conversion, etc.) have also been reported. In this study, the gene expression profiles of AF tissue in ovariectomized and sham-operated chickens were determined to identify differentially expressed genes (DEGs) and pathways to explore the molecular mechanisms underlying AF accumulation. Comparing the ovariectomized group and the sham-operated group, the abdominal fat weight (AFW) and abdominal fat percentage (AFP) were increased significantly (p < 0.05) at 14 and 19 weeks after ovariectomy. According to the gene expression profiling analysis, 108 DEGs of fat metabolism were screened from 1461 DEGs. Among them, ABCA1, ABCACA, LPL, CREB1, PNPLA2, which are involved in glycerolipid—or steroid—associated biological processes, and the hormone receptor genes, ESR1 and PRLR, were down-regulated significantly in the ovariectomized group compared to the sham-operated group (p < 0.05). Conversely, CETP, DGAT2, DHCR24, HSD17B7 and MSMO1, were significantly up-regulated (p < 0.05) after ovariectomy. Based on the DEGs, the glycerolipid metabolism, steroid biosynthesis, and other signaling pathways (MAPK, TGF-β, and adhesion pathways, etc.) were enriched, which may also contribute to the regulation of AF deposition. Our data suggest that AF deposition was significantly increased in ovariectomized chickens by the down-regulation of the decomposition genes of glycerolipid metabolism, which inhibits AF degradation, and the up-regulation of steroid biosynthesis genes, which increases fat accumulation. These findings provide new insights into the molecular mechanisms of fat deposition in the ovariectomized chickens. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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10 pages, 2444 KiB  
Letter
PheWAS-Based Systems Genetics Methods for Anti-Breast Cancer Drug Discovery
by Min Gao, Yuan Quan, Xiong-Hui Zhou and Hong-Yu Zhang
Genes 2019, 10(2), 154; https://doi.org/10.3390/genes10020154 - 18 Feb 2019
Cited by 2 | Viewed by 3788
Abstract
Breast cancer is a high-risk disease worldwide. For such complex diseases that are induced by multiple pathogenic genes, determining how to establish an effective drug discovery strategy is a challenge. In recent years, a large amount of genetic data has accumulated, particularly in [...] Read more.
Breast cancer is a high-risk disease worldwide. For such complex diseases that are induced by multiple pathogenic genes, determining how to establish an effective drug discovery strategy is a challenge. In recent years, a large amount of genetic data has accumulated, particularly in the genome-wide identification of disorder genes. However, understanding how to use these data efficiently for pathogenesis elucidation and drug discovery is still a problem because the gene–disease links that are identified by high-throughput techniques such as phenome-wide association studies (PheWASs) are usually too weak to have biological significance. Systems genetics is a thriving area of study that aims to understand genetic interactions on a genome-wide scale. In this study, we aimed to establish two effective strategies for identifying breast cancer genes based on the systems genetics algorithm. As a result, we found that the GeneRank-based strategy, which combines the prognostic phenotype-based gene-dependent network with the phenotypic-related PheWAS data, can promote the identification of breast cancer genes and the discovery of anti-breast cancer drugs. Full article
(This article belongs to the Section Technologies and Resources for Genetics)
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25 pages, 441 KiB  
Review
Genetic Epidemiology of Breast Cancer in Latin America
by Valentina A. Zavala, Silvia J. Serrano-Gomez, Julie Dutil and Laura Fejerman
Genes 2019, 10(2), 153; https://doi.org/10.3390/genes10020153 - 18 Feb 2019
Cited by 32 | Viewed by 8240
Abstract
The last 10 years witnessed an acceleration of our understanding of what genetic factors underpin the risk of breast cancer. Rare high- and moderate-penetrance variants such as those in the BRCA genes account for a small proportion of the familial risk of breast [...] Read more.
The last 10 years witnessed an acceleration of our understanding of what genetic factors underpin the risk of breast cancer. Rare high- and moderate-penetrance variants such as those in the BRCA genes account for a small proportion of the familial risk of breast cancer. Low-penetrance alleles are expected to underlie the remaining heritability. By now, there are about 180 genetic polymorphisms that are associated with risk, most of them of modest effect. In combination, they can be used to identify women at the lowest or highest ends of the risk spectrum, which might lead to more efficient cancer prevention strategies. Most of these variants were discovered in populations of European descent. As a result, we might be failing to discover additional polymorphisms that could explain risk in other groups. This review highlights breast cancer genetic epidemiology studies conducted in Latin America, and summarizes the information that they provide, with special attention to similarities and differences with studies in other populations. It includes studies of common variants, as well as moderate- and high-penetrance variants. In addition, it addresses the gaps that need to be bridged in order to better understand breast cancer genetic risk in Latin America. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Complex Diseases in Latin America)
17 pages, 586 KiB  
Review
Origin, Behaviour, and Transmission of B Chromosome with Special Reference to Plantago lagopus
by Manoj K. Dhar, Jasmeet Kour and Sanjana Kaul
Genes 2019, 10(2), 152; https://doi.org/10.3390/genes10020152 - 18 Feb 2019
Cited by 15 | Viewed by 4722
Abstract
B chromosomes have been reported in many eukaryotic organisms. These chromosomes occur in addition to the standard complement of a species. Bs do not pair with any of the A chromosomes and they have generally been considered to be non-essential and genetically inert. [...] Read more.
B chromosomes have been reported in many eukaryotic organisms. These chromosomes occur in addition to the standard complement of a species. Bs do not pair with any of the A chromosomes and they have generally been considered to be non-essential and genetically inert. However, due to tremendous advancements in the technologies, the molecular composition of B chromosomes has been determined. The sequencing data has revealed that B chromosomes have originated from A chromosomes and they are rich in repetitive elements. In our laboratory, a novel B chromosome was discovered in Plantago lagopus. Using molecular cytogenetic techniques, the B chromosome was found to be composed of ribosomal DNA sequences. However, further characterization of the chromosome using next generation sequencing (NGS) etc. revealed that the B chromosome is a mosaic of sequences derived from A chromosomes, 5S ribosomal DNA (rDNA), 45S rDNA, and various types of repetitive elements. The transmission of B chromosome through the female sex track did not follow the Mendelian principles. The chromosome was found to have drive due to which it was perpetuating in populations. The present paper attempts to summarize the information on nature, transmission, and origin of B chromosomes, particularly the current status of our knowledge in P. lagopus. Full article
(This article belongs to the Special Issue Evolution, Composition and Regulation of Supernumerary B Chromosomes)
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13 pages, 1169 KiB  
Article
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients
by Lama Jaffal, Wissam H. Joumaa, Alexandre Assi, Charles Helou, Christel Condroyer, Maya El Dor, Georges Cherfan, Christina Zeitz, Isabelle Audo, Kazem Zibara and Said El Shamieh
Genes 2019, 10(2), 151; https://doi.org/10.3390/genes10020151 - 18 Feb 2019
Cited by 6 | Viewed by 3084
Abstract
To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to [...] Read more.
To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to standard ophthalmic examinations. In addition, BEST1 exons and their flanking regions were amplified and sequenced by Sanger sequencing. Co-segregation and detailed bio-informatic analyses were performed. Clinical examination results were consistent with ARB diagnosis for all index patients showing multifocal vitelliform lesions and a markedly reduced light peak in the electrooculogram, including the two patients with a single vitelliform lesion. In all cases, most likely disease-causing BEST1 mutations co-segregated with the phenotype. The ARB cases showed homozygous missense variants (M1, c.209A>G, p.(Asp70Gly) in exon 3, M2, c.1403C>T; p.(Pro468Leu) in exon 10 and M3, c.830C>T, p.(Thr277Met) in exon 7), while the two patients with a single vitelliform lesion were compound heterozygous for M1 and M2. To our knowledge, this is the first study describing mutations in Lebanese patients with bestrophinopathy, where novel biallelic BEST1 mutations associated with two phenotypes were identified. Homozygous mutations were associated with multifocal lesions, subretinal fluid, and intraretinal cysts, whereas compound heterozygous ones were responsible for a single macular vitelliform lesion. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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21 pages, 955 KiB  
Review
Human Genetic Adaptation to High Altitude: Evidence from the Andes
by Colleen G. Julian and Lorna G. Moore
Genes 2019, 10(2), 150; https://doi.org/10.3390/genes10020150 - 15 Feb 2019
Cited by 73 | Viewed by 9961
Abstract
Whether Andean populations are genetically adapted to high altitudes has long been of interest. Initial studies focused on physiological changes in the O2 transport system that occur with acclimatization in newcomers and their comparison with those of long-resident Andeans. These as well [...] Read more.
Whether Andean populations are genetically adapted to high altitudes has long been of interest. Initial studies focused on physiological changes in the O2 transport system that occur with acclimatization in newcomers and their comparison with those of long-resident Andeans. These as well as more recent studies indicate that Andeans have somewhat larger lung volumes, narrower alveolar to arterial O2 gradients, slightly less hypoxic pulmonary vasoconstrictor response, greater uterine artery blood flow during pregnancy, and increased cardiac O2 utilization, which overall suggests greater efficiency of O2 transfer and utilization. More recent single nucleotide polymorphism and whole-genome sequencing studies indicate that multiple gene regions have undergone recent positive selection in Andeans. These include genes involved in the regulation of vascular control, metabolic hemostasis, and erythropoiesis. However, fundamental questions remain regarding the functional links between these adaptive genomic signals and the unique physiological attributes of highland Andeans. Well-designed physiological and genome association studies are needed to address such questions. It will be especially important to incorporate the role of epigenetic processes (i.e., non-sequence-based features of the genome) that are vital for transcriptional responses to hypoxia and are potentially heritable across generations. In short, further exploration of the interaction among genetic, epigenetic, and environmental factors in shaping patterns of adaptation to high altitude promises to improve the understanding of the mechanisms underlying human adaptive potential and clarify its implications for human health. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Complex Diseases in Latin America)
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12 pages, 10642 KiB  
Article
Investigating the DNA-Binding Site for VirB, a Key Transcriptional Regulator of Shigella Virulence Genes, Using an In Vivo Binding Tool
by Monika M.A. Karney, Joy A. McKenna, Natasha Weatherspoon-Griffin, Alexander D. Karabachev, Makensie E. Millar, Eliese A. Potocek and Helen J. Wing
Genes 2019, 10(2), 149; https://doi.org/10.3390/genes10020149 - 15 Feb 2019
Cited by 10 | Viewed by 3519
Abstract
The transcriptional anti-silencing and DNA-binding protein, VirB, is essential for the virulence of Shigella species and, yet, sequences required for VirB-DNA binding are poorly understood. While a 7-8 bp VirB-binding site has been proposed, it was derived from studies at a single VirB-dependent [...] Read more.
The transcriptional anti-silencing and DNA-binding protein, VirB, is essential for the virulence of Shigella species and, yet, sequences required for VirB-DNA binding are poorly understood. While a 7-8 bp VirB-binding site has been proposed, it was derived from studies at a single VirB-dependent promoter, icsB. Our previous in vivo studies at a different VirB-dependent promoter, icsP, found that the proposed VirB-binding site was insufficient for regulation. Instead, the required site was found to be organized as a near-perfect inverted repeat separated by a single nucleotide spacer. Thus, the proposed 7-8 bp VirB-binding site needed to be re-evaluated. Here, we engineer and validate a molecular tool to capture protein-DNA binding interactions in vivo. Our data show that a sequence organized as a near-perfect inverted repeat is required for VirB-DNA binding interactions in vivo at both the icsB and icsP promoters. Furthermore, the previously proposed VirB-binding site and multiple sites found as a result of its description (i.e., sites located at the virB, virF, spa15, and virA promoters) are not sufficient for VirB to bind in vivo using this tool. The implications of these findings are discussed. Full article
(This article belongs to the Section Microbial Genetics and Genomics)
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16 pages, 3041 KiB  
Article
The Role of the Late Embryogenesis-Abundant (LEA) Protein Family in Development and the Abiotic Stress Response: A Comprehensive Expression Analysis of Potato (Solanum Tuberosum)
by Yongkun Chen, Canhui Li, Bo Zhang, Jing Yi, Yu Yang, Chunyan Kong, Chunxia Lei and Ming Gong
Genes 2019, 10(2), 148; https://doi.org/10.3390/genes10020148 - 15 Feb 2019
Cited by 99 | Viewed by 6221
Abstract
Late embryogenesis-abundant (LEA) proteins are a large and highly diverse family believed to function in normal plant growth and development, and in protecting cells from abiotic stress. This study presents a characterisation of 74 Solanum tuberosum LEA (StLEA) proteins belonging to nine groups. [...] Read more.
Late embryogenesis-abundant (LEA) proteins are a large and highly diverse family believed to function in normal plant growth and development, and in protecting cells from abiotic stress. This study presents a characterisation of 74 Solanum tuberosum LEA (StLEA) proteins belonging to nine groups. StLEA genes have few introns (≤2) and are distributed on all chromosomes, occurring as gene clusters on chromosomes 1, 2, and 10. All four StASR (StLEA7 group) genes were concentrated on chromosome 4, suggesting their evolutionary conservation on one chromosome. Expression profiles of StLEA genes, in different tissues and in response to hormone and stress treatments, indicated that 71 StLEA genes had differential expression levels, of which 68 StLEA genes were differentially expressed in response to hormones and stress exposure in the potato. Continuous high expression of StASR-2, StLEA3-3, StDHN-3, StLEA2-29, and StLEA2-14 in different tissues indicated their contribution to plant development processes. StLEA2-14, StLEA2-31, StLEA3-3, StASR-1, and StDHN-1 were upregulated by six abiotic stresses, showing their tolerance to a wide spectrum of environmental stresses. Expression analysis of 17 selected StLEA genes in response to drought, salt, heavy metal, heat, and cold treatments by quantitative real-time polymerase chain reaction indicated that StLEA proteins may be involved in distinct signalling pathways. Taken together, StLEA3, StDHN, and StASR subgroup genes may be excellent resources for potato defence against environmental stresses. These results provide valuable information and robust candidate genes for future functional analysis aimed at improving the stress tolerance of the potato. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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