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Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and...
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Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Biochemistry and Molecular Biology".

Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 7000

Special Issue Editor

Dr. Tomoyoshi Komiyama

E-Mail Website
Guest Editor
Department of Clinical Pharmacology, Tokai University School of Medicine, Isehara 259-1193, Kanagawa, Japan
Interests: diagnosis; prognostic factor; clinical genetics; neuroscience; molecular pharmacology; gene mutation; drug resistance; mitochondrial DNA; polymorphism; heteroplasmy; nucleotide differentiation index; cell signaling; catecholamine receptors; gene expression; evolution; molecular phylogeny; domestication; phenotype
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The scope of this Special Issue comprehensively encapsulates a wide range of fields, such as medical diagnosis, evolution, phylogeny, taxonomy, ecology, behavioral science, genetics, molecular biology, pharmacology, and anthropology. In addition, this Special Issue aims to incorporate cutting-edge technologies in life sciences, reflecting the trend of consistently developing the research approaches in this field by drawing on diverse perspectives and an in-depth understanding of the research problems. This approach to research will be reflected in the subsequent results, which combine a series of studies on phenotype developments, gene function, etc.

The Special Issue will focus on developing a full understanding of research motivations and questions, and will draw on the behavioral characteristics of living organisms and any different experimental data from biology in order to enhance the analysis of relationships based on many biological methods.

Dr. Tomoyoshi Komiyama
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biology is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • behavior
  • diagnosis factor
  • disease
  • genetics
  • neuroscience
  • pharmacology
  • evolution
  • phenotype
  • adaptation

Related Special Issue

Published Papers (5 papers)

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Research

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14 pages, 2290 KiB  
Article
Aberrant Water Structure Dynamics in B16 Melanoma-Bearing Mice by Time Domain Refractometry Analysis
by Kahori Furuhata, Haruchika Masuda, Atsuko Sato, Kumiko Miyata, Naoki Shinyashiki, Rio Kita, Kotaro Imagawa, Tadashi Akamatsu and Shin Yagihara
Biology 2023, 12(9), 1250; https://doi.org/10.3390/biology12091250 - 18 Sep 2023
Viewed by 956
Abstract
Living bodies comprise approximately 55–75% water to maintain homeostasis. However, little is known about the comprehensive differences in in vivo water molecule dynamics (water structure dynamics; WSD) between physiological and pathophysiological statuses. Here, we examined the WSD of ex vivo tumor tissues and [...] Read more.
Living bodies comprise approximately 55–75% water to maintain homeostasis. However, little is known about the comprehensive differences in in vivo water molecule dynamics (water structure dynamics; WSD) between physiological and pathophysiological statuses. Here, we examined the WSD of ex vivo tumor tissues and organs from tumor-bearing mice with engrafted mouse malignant melanoma cells (B16-F10) in the right flanks to compare with those in healthy mice, using time domain reflectometry of dielectric spectroscopy at days 9, 11, and 14 after engrafting. The relaxation parameters of relaxation time (τ), relaxation time distribution parameter (β), and relaxation strength (∆ε) were measured on tumor tissues and lung, liver, kidney, and skin tissues. Immediately afterward, the water contents (%) in the tumor and the other organs were calculated by measuring their weights before and after freeze-drying. Each parameter of the tumor was compared to that of pooled values of other organs in tumor-bearing (TO) and healthy mice (HO). The tumor water content temporarily increased compared to that of HO at day 11; the tumor volume was also prone to increase. In contrast, tumor tissues exhibited significantly higher values of β close to 1 of ultrapure water and ∆ε compared to TO and HO at all times. Moreover, β in the viscera of TO was prone to increase compared to that of HO with significantly higher levels at day 11. Conclusively, tumor-bearing mice exhibited systemically aberrant WSD, unlike healthy mice. Thus, dielectric spectroscopy in terms of WSD may provide novel pathophysiological perspectives in tumor-bearing living bodies. Full article
(This article belongs to the Special Issue Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors)
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13 pages, 2232 KiB  
Article
d-Serine Increases Release of Acetylcholine in Rat Submandibular Glands
by Masanobu Yoshikawa, Migiwa Okubo, Kosuke Shirose, Takugi Kan and Mitsuru Kawaguchi
Biology 2023, 12(9), 1227; https://doi.org/10.3390/biology12091227 - 11 Sep 2023
Viewed by 684
Abstract
d-serine has been observed in submandibular gland tissue in rats, but its functions remain to be clarified. Oral administration of d-serine, but not l-serine, increased its concentrations in the submandibular gland and pilocarpine-induced salivary secretion. In vivo microdialysis was used [...] Read more.
d-serine has been observed in submandibular gland tissue in rats, but its functions remain to be clarified. Oral administration of d-serine, but not l-serine, increased its concentrations in the submandibular gland and pilocarpine-induced salivary secretion. In vivo microdialysis was used to collect the d- and l-enantiomers of amino acids from local interstitial fluid in the rat submandibular gland. The proportion of the d-form of serine in interstitial fluid was higher than that in plasma or saliva. Perfusion of the rat submandibular gland with d-serine and l-glutamic acid via the submandibular gland artery resulted in a significant increase in salivary secretion after stimulation of muscarinic receptors with carbachol. In vivo microdialysis applied to the submandibular glands of rats showed that infusion of d-serine along with l-glutamate through the microdialysis probe significantly elevated acetylcholine levels in local interstitial fluids in the submandibular glands of anesthetized rats as compared to that with l-glutamate alone in an N-methyl-d-aspartate receptor glycine site antagonist-sensitive manner. These results indicate that d-serine augments salivary secretion by increasing acetylcholine release in the salivary glands. Full article
(This article belongs to the Special Issue Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors)
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14 pages, 2016 KiB  
Article
Establishment of Wild-Derived Strains of Japanese Quail (Coturnix japonica) in Field and Laboratory Experiments
by Tatsuhiko Goto, Satoshi Konno and Miwa Konno
Biology 2023, 12(8), 1080; https://doi.org/10.3390/biology12081080 - 02 Aug 2023
Viewed by 1870
Abstract
Domestic quail are used as both farm and laboratory animals. As the wild ancestor of quails is “endangered,” field studies are needed to conserve them. If wild-derived strains of quail are established, they will be unique genetic resources for both farm and laboratory [...] Read more.
Domestic quail are used as both farm and laboratory animals. As the wild ancestor of quails is “endangered,” field studies are needed to conserve them. If wild-derived strains of quail are established, they will be unique genetic resources for both farm and laboratory animals. The purpose of the present study was to conduct a field study and create wild-derived quail strains using the breeding stocks in Tokachi, Hokkaido, Japan. Field observations from 2019 to 2022 indicate that wild quails migrate and stay at reproductive sites from late April to late October. Our estimations of the approximate ages of the observed and captured quails imply that adult males have intermittent reproductive opportunities from May to August. Morphological traits collected from adult and juvenile quails in the 2019–2022 population were similar to those previously reported for Japan’s 1914 and 1970 populations. Using natural mating of captured wild males and domestic (Dom) females, we established the W50 and W75 strains, which possessed 50% and 75% genetic contributions from the wild stocks. These unique genetic resources can be applied for future conservation and experimental use to understand the domestication history and genetic basis of quantitative traits. Full article
(This article belongs to the Special Issue Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors)
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13 pages, 1891 KiB  
Article
Effects of Genetic Mutation Sites in ADR Genes on Modern Chickens Produced and Domesticated by Artificial Selection
by Tomoyoshi Komiyama
Biology 2023, 12(2), 169; https://doi.org/10.3390/biology12020169 - 20 Jan 2023
Viewed by 1890
Abstract
Associations between neurotransmitters, adrenergic receptor (ADR) mutations, and behaviors in chickens produced and domesticated by artificial selection remain unclear. This study investigates the association of neurotransmitters and ADR mutations with egg laying and cockfighting—behaviors associated with significantly different breeding backgrounds—in Shaver Brown and [...] Read more.
Associations between neurotransmitters, adrenergic receptor (ADR) mutations, and behaviors in chickens produced and domesticated by artificial selection remain unclear. This study investigates the association of neurotransmitters and ADR mutations with egg laying and cockfighting—behaviors associated with significantly different breeding backgrounds—in Shaver Brown and Shamo chickens. Accordingly, the whole sequences of nine ADR genes were determined, and nine amino acid-specific mutation sites from five genes (ADRα1A: S365G, ADRα1D: T440N, ADRα2A: D273E, ADRβ1: N443S, S445N, ADRβ3: R342C, Q404L, and P406S) were extracted. Evolutionary analysis showed that these mutations were not ancestrally derived. These results confirm that the mutations at these sites were artificially selected for domestication and are breed specific. NST population analysis confirmed a difference in the degree of genetic differentiation between the two populations in seven genes. The results further confirm differences in the degree of genetic differentiation between the two populations in Shaver Brown (ADRA1B and ADRA1D) and Shamo (ADRA1A and ADRA2B) chickens, indicating that the ADR gene differs between the two breeds. The effects of artificial selection, guided by the human-driven selection of desirable traits, are reflected in adrenaline gene mutations. Furthermore, certain gene mutations may affect domestication, while others may affect other traits in populations or individuals. Full article
(This article belongs to the Special Issue Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors)
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12 pages, 7273 KiB  
Brief Report
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia
by Jaime Toral López, Sandra Gómez Martinez, María del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón and Luz María González Huerta
Biology 2024, 13(3), 173; https://doi.org/10.3390/biology13030173 - 08 Mar 2024
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Abstract
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and [...] Read more.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1–9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (RUNX2) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analyses of the RUNX2 gene were performed for Sanger sequencing. Bioinformatics tools were used to predict the function, stability, and structural changes of the mutated RUNX2 proteins. Three novel heterozygous mutations (c.651_652delTA; c.538_539delinsCA; c.662T>A) and a previously reported mutation (c.674G>A) were detected. In silico analysis showed that all mutations had functional, stability-related, and structural alterations in the RUNX2 protein. Our results show novel mutations that enrich the pool of RUNX2 gene mutations with CCD. Moreover, the proband 1 presented clinical data not previously reported that could represent an expanded phenotype of severe expression. Full article
(This article belongs to the Special Issue Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors)
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