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Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
INSERM Unité 276, Université Paris VII, France.
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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Cited by 5 PubMed Central articles
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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.
[J Med Genet. 1996]
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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.
[Proc Natl Acad Sci U S A. 1993]
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True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
Braun A, Kammerer S, Cleve H, Löhrs U, Schwarz HP, Kuhnle U.
Am J Hum Genet. 1993 Mar; 52(3):578-85.
[Am J Hum Genet. 1993]
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