Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
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.
Vilain
E
E
INSERM Unité 276, Université Paris VII, France.
McElreavey
K
K
Jaubert
F
F
Raymond
J P
JP
Richaud
F
F
Fellous
M
M
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012732:Sex Determination Analysis; D014157:Transcription Factors / Q000235:genetics*; D014998:Y Chromosome
D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D014157:Transcription Factors; C054430:ZFY protein, human