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© Research
Publication : American journal of human genetics

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in American journal of human genetics - 01 May 1992

Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M

Link to Pubmed [PMID] – 1570829

Am. J. Hum. Genet. 1992 May;50(5):1008-11

The human Y chromosome encodes a testis-determining factor (TDF) which is responsible for initiating male sex determination. Recently a region of the Y chromosome (SRY) was identified as part of the TDF gene. We have identified a three-generation family (N) in which all XY individuals have a single base-pair substitution resulting in a conservative amino acid change in the conserved domain of the SRY open reading frame. Three individuals are XY sex-reversed females, and two are XY males. Several models are proposed to explain association between a sequence variant in SRY and two sex phenotypes.

http://www.ncbi.nlm.nih.gov/pubmed/1570829