ATRX and sex differentiation

Trends Endocrinol Metab. 2004 Sep;15(7):339-44. doi: 10.1016/j.tem.2004.07.006.

Abstract

Most interest in the gene encoding the alpha-thalassemia, mental retardation, X-linked protein (ATRX) has traditionally been focused on its role in brain development and globin regulation. However, mutations in the ATRX gene also cause varying degrees of gonadal and urogenital abnormalities. These range from small testes to ambiguous external genitalia in XY individuals. ATRX is of great interest because this very large protein is one of the least understood proteins involved in mammalian sexual development. Although the biochemical role of ATRX remains unknown, recent and emerging evidence implicates ATRX in chromatin remodeling. We review what is known about ATRX as a chromatin remodeling protein, and its role in mammalian sex differentiation.

Publication types

  • Review

MeSH terms

  • Chromatin / genetics
  • DNA Helicases / genetics*
  • DNA Helicases / physiology*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Male
  • Mutation / physiology
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / physiology*
  • Sex Differentiation / genetics
  • Testicular Diseases / genetics
  • X-linked Nuclear Protein

Substances

  • Chromatin
  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein