Molecular mechanisms involved in mammalian primary sex determination

J Mol Endocrinol. 2014 Aug;53(1):R21-37. doi: 10.1530/JME-14-0018. Epub 2014 Jun 13.

Abstract

Sex determination refers to the developmental decision that directs the bipotential genital ridge to develop as a testis or an ovary. Genetic studies on mice and humans have led to crucial advances in understanding the molecular fundamentals of sex determination and the mutually antagonistic signaling pathway. In this review, we summarize the current molecular mechanisms of sex determination by focusing on the known critical sex determining genes and their related signaling pathways in mammalian vertebrates from mice to humans. We also discuss the underlying delicate balance between testis and ovary sex determination pathways, concentrating on the antagonisms between major sex determining genes.

Keywords: Sertoli cell; genital ridge; sex determination; sexual differentiation.

Publication types

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

MeSH terms

  • Animals
  • DNA-Binding Proteins / genetics
  • Female
  • Forkhead Transcription Factors / genetics
  • GATA4 Transcription Factor / genetics
  • Gene Expression Regulation, Developmental
  • Genes, sry*
  • Homeodomain Proteins / genetics
  • Humans
  • LIM-Homeodomain Proteins / genetics
  • Male
  • Mice
  • Ovary / embryology
  • Ovary / metabolism
  • RNA Splicing Factors
  • Sex Determination Processes*
  • Signal Transduction / genetics
  • Testis / embryology
  • Testis / metabolism
  • Transcription Factors / genetics
  • WT1 Proteins / genetics
  • Wnt4 Protein / genetics

Substances

  • DNA-Binding Proteins
  • Forkhead Transcription Factors
  • GATA4 Transcription Factor
  • Homeodomain Proteins
  • LIM-Homeodomain Proteins
  • RNA Splicing Factors
  • Sf1 protein, mouse
  • Transcription Factors
  • WT1 Proteins
  • Wnt4 Protein
  • empty spiracles homeobox proteins