Sex determination in humans

Bioessays. 1996 Dec;18(12):955-63. doi: 10.1002/bies.950181205.


In mammals, the Y chromosome induces testis formation and thus male sexual development; in the absence of a Y chromosome, gonads differentiate into ovaries and female development ensues. Molecular genetic studies have identified the Y-located testis determining gene SRY as well as autosomal and X-linked genes necessary for gonadal development. The phenotypes resulting from mutation of these genes, together with their patterns of expression, provide the basis for establishing a hierarchy of genes and their interactions in the mammalian sex determination pathway.

Publication types

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

MeSH terms

  • Animals
  • Biological Evolution
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Disorders of Sex Development
  • Female
  • Humans
  • Male
  • Mammals / genetics
  • Nuclear Proteins*
  • Ovary
  • Phenotype
  • RNA Splicing Factors
  • RNA-Binding Proteins / genetics
  • Sex Characteristics
  • Sex Determination Analysis*
  • Sex-Determining Region Y Protein
  • Testis
  • Transcription Factors / genetics
  • WT1 Proteins
  • X Chromosome*
  • Y Chromosome*


  • DNA-Binding Proteins
  • Nuclear Proteins
  • RNA Splicing Factors
  • RNA-Binding Proteins
  • SF1 protein, human
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Transcription Factors
  • WT1 Proteins