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© Research
Publication : Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 03 Dec 2016

Bashamboo A, McElreavey K

Link to Pubmed [PMID] – 27915330

Sex Dev 2016;10(5-6):313-325

In this review we will consider the gene mutations responsible for the non-syndromic forms of disorders of sex development (DSD) and how recent genetic findings are providing insights into the mechanism of sex determination. High-throughput sequencing technologies are having a major impact on our understanding of the genetic basis of rare human disorders, including DSD. The study of human DSD is progressively revealing subtle differences in the genetics of the sex-determining system between the mouse and the human. This plasticity of the sex-determining pathway is apparent in (a) the difference in phenotypes in human and mouse associated with the same gene, (b) the different gene regulatory mechanisms between human and mouse, and finally (c) the different and unexpected reproductive phenotypes seen in association with mutations in well-studied sex-determining genes.

https://www.ncbi.nlm.nih.gov/pubmed/27915330