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

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

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • DNA-Binding Proteins / genetics*
  • Female
  • Gonadal Dysgenesis / genetics
  • Humans
  • Kruppel-Like Transcription Factors
  • Male
  • Molecular Sequence Data
  • Mutation / genetics
  • Open Reading Frames / genetics
  • Pedigree
  • Phenotype
  • Sex Determination Analysis*
  • Transcription Factors / genetics*
  • Y Chromosome*

Substances

  • DNA-Binding Proteins
  • Kruppel-Like Transcription Factors
  • Transcription Factors
  • ZFY protein, human