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Sex Determination Mechanisms and Disease 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 2766

Special Issue Editor


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Guest Editor
Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland
Interests: sex determination; disorderes of sexual development – DSD; germ cells; posttrancriptional gene regulation – PTGR; RNA-binidng proteins – RBPs; 3’Utranslated region – 3’UTR
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Special Issue Information

Dear Colleagues,

Sex determination is one of the major developmental fate decisions that occur early in embryos by imposing male or female phenotypic sex on the whole individual; this process is critical especially in the context of frequent congenital sex development disorders/differences (DSD). These conditions  are linked with several serious health and social problems from sex assignment at birth and trobles in pubertal development to infertility, increased susceptibility to testicular or ovarian cancer and bone health in adulthood. Albeit the molecular basis of DSD is only partially known, the advances in molecular biology permitt day-to-day discovery of new genes regulating sex determination and differentiation. The proposed Special Issue is focused on two main points. The first one is identification of novel genes which are involved in sex development and genomic mutations underlying the various phenotypes. The second point is to uncover roles of these novel genes and their functional relationship in the processes governing human sex development. Endocrynological aspects as well as any other topics related to sex development, DSD and their clinical managent through lifespan are welcome.

Dr. Jadwiga Jaruzelska
Guest Editor

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Keywords

  • sex determination
  • disorders of sex development
  • sex ambiguity
  • gonadal development
  • endocrinology of sex development

Published Papers (1 paper)

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Review

17 pages, 819 KiB  
Review
Master-Key Regulators of Sex Determination in Fish and Other Vertebrates—A Review
by Arie Yehuda Curzon, Andrey Shirak, Micha Ron and Eyal Seroussi
Int. J. Mol. Sci. 2023, 24(3), 2468; https://doi.org/10.3390/ijms24032468 - 27 Jan 2023
Cited by 4 | Viewed by 2509
Abstract
In vertebrates, mainly single genes with an allele ratio of 1:1 trigger sex-determination (SD), leading to initial equal sex-ratios. Such genes are designated master-key regulators (MKRs) and are frequently associated with DNA structural variations, such as copy-number variation and null-alleles. Most MKR knowledge [...] Read more.
In vertebrates, mainly single genes with an allele ratio of 1:1 trigger sex-determination (SD), leading to initial equal sex-ratios. Such genes are designated master-key regulators (MKRs) and are frequently associated with DNA structural variations, such as copy-number variation and null-alleles. Most MKR knowledge comes from fish, especially cichlids, which serve as a genetic model for SD. We list 14 MKRs, of which dmrt1 has been identified in taxonomically distant species such as birds and fish. The identification of MKRs with known involvement in SD, such as amh and fshr, indicates that a common network drives SD. We illustrate a network that affects estrogen/androgen equilibrium, suggesting that structural variation may exert over-expression of the gene and thus form an MKR. However, the reason why certain factors constitute MKRs, whereas others do not is unclear. The limited number of conserved MKRs suggests that their heterologous sequences could be used as targets in future searches for MKRs of additional species. Sex-specific mortality, sex reversal, the role of temperature in SD, and multigenic SD are examined, claiming that these phenomena are often consequences of artificial hybridization. We discuss the essentiality of taxonomic authentication of species to validate purebred origin before MKR searches. Full article
(This article belongs to the Special Issue Sex Determination Mechanisms and Disease 2.0)
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