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

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

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

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INSERM Unité 276, Université Paris VII, France.

Abstract

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.

PMID:: 1570829; [PubMed - indexed for MEDLINE]
PMCID:: PMC1682588

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Genetic evidence equating SRY and the testis-determining factor. [Nature. 1990]
Genetic evidence equating SRY and the testis-determining factor.
Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Nature. 1990 Nov 29; 348(6300):448-50.
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. [Proc Natl Acad Sci U S A. 1996]
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, et al. Proc Natl Acad Sci U S A. 1996 Aug 6; 93(16):8590-4.
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. [Hum Genet. 1997]
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.
Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, et al. Hum Genet. 1997 May; 99(5):648-52.
Review Mutational analysis of SRY in XY females. [Hum Mutat. 1993]
Review Mutational analysis of SRY in XY females.
Hawkins JR. Hum Mutat. 1993; 2(5):347-50.
Review The role of SRY in mammalian sex determination. [Acta Paediatr Jpn. 1996]
Review The role of SRY in mammalian sex determination.
Fechner PY. Acta Paediatr Jpn. 1996 Aug; 38(4):380-9.

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Cited by 6 PubMed Central articles

Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway. [PLoS Genet. 2012]
Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway.
Correa SM, Washburn LL, Kahlon RS, Musson MC, Bouma GJ, Eicher EM, Albrecht KH. PLoS Genet. 2012; 8(4):e1002569. Epub 2012 Apr 5.
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects. [J Med Genet. 1996]
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
Kwok C, Tyler-Smith C, Mendonca BB, Hughes I, Berkovitz GD, Goodfellow PN, Hawkins JR. J Med Genet. 1996 Jun; 33(6):465-8.
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. [Proc Natl Acad Sci U S A. 1993]
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.
McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. Proc Natl Acad Sci U S A. 1993 Apr 15; 90(8):3368-72.

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