The molecular genetics of sex determination and sex reversal in mammals

Quinn, Alexander and Koopman, Peter (2012) The molecular genetics of sex determination and sex reversal in mammals. Seminars in Reproductive Medicine, 30 5: 351-363. doi:10.1055/s-0032-1324718

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Author Quinn, Alexander
Koopman, Peter
Title The molecular genetics of sex determination and sex reversal in mammals
Journal name Seminars in Reproductive Medicine   Check publisher's open access policy
ISSN 1526-8004
Publication date 2012-09-01
Year available 2012
Sub-type Article (original research)
DOI 10.1055/s-0032-1324718
Open Access Status Not Open Access
Volume 30
Issue 5
Start page 351
End page 363
Total pages 13
Place of publication New York, United States
Publisher Thieme Medical Publishers
Language eng
Abstract On Thursday 9 May 1991, the world awoke to front-page news of a breakthrough in biological research. From Washington to Wollongong, newspapers, radio and TV were abuzz with the story of a transgenic mouse in London called Randy. Why was this mouse so special? The mouse in question was a chromosomal female (XX) made male by the presence of a transgene containing the Y chromosome gene Sry This sex-reversal provided clear experimental proof that Sry was the elusive mammalian sex-determining gene. Twenty-five years on, we reflect on what this discovery meant for our understanding of how males and females arise and what remains to be understood.
Formatted abstract
The process of sex determination in mammals normally unfolds in three distinct stages: (1) establishment of chromosomal sex at fertilization (XX or XY); (2) commitment to the appropriate pathway of gonadal differentiation with respect to chromosomal sex, through the action (or absence) of the Y chromosome gene SRY; and (3) correct development of secondary sexual characteristics, including internal and external genitalia, in accordance with gonadal sex. At any of these three steps, the process of sex determination can go awry, leading to disorders of sexual development. In this article, we review the typical mechanism and process of mammalian sex determination, with an emphasis on the well-characterized mouse and human models. We also consider aberrant mammalian sex determination, focusing on examples of sex reversal stemming from gene defects.
Keyword Sex determination
Sex chromosomes
Sex reversal
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 13-1270
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 28 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 26 times in Scopus Article | Citations
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Created: Sat, 27 Oct 2012, 04:17:03 EST by System User on behalf of Institute for Molecular Bioscience