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© Research
Publication : American journal of medical genetics

Sex determination and the Y chromosome

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in American journal of medical genetics - 29 Dec 1999

McElreavey K, Fellous M

Link to Pubmed [PMID] – 10727993

Am. J. Med. Genet. 1999 Dec;89(4):176-85

Although SRY was first identified 10 years ago, we still know remarkably little about its mode of action or downstream target genes. Recently, potential protein partners have been identified and there has been considerable activity to understand the roles of WT1, SF-1, DAX-1 and SOX9 in gonadogenesis. The emerging picture is one of complex interactions, involving both positive and negative regulatory signals that, depending on the cellular and promoter context, drive the expression of male-specific genes. Despite recent advances, however, we are still unable to explain the genetic cause of most cases of 46,XY gonadal dysgenesis or even a single case of Y-chromosome-negative 46,XX maleness.

http://www.ncbi.nlm.nih.gov/pubmed/10727993