Monosomy for the X chromosome

Chromosome Res. 2009;17(5):649-58. doi: 10.1007/s10577-009-9052-z.

Abstract

Dosage compensation serves to equalize X chromosome gene expression in mammalian males and females and involves extensive silencing of the 2nd X chromosome in females. If dosage compensation mechanisms completely suppressed the 2nd X chromosome, then actual physical loss of this "eXtra" chromosome should have few consequences. However, X monosomy has major effects upon normal development, fertility and longevity in humans and some other species. This article reviews observations and arguments attempting to explain the phenotypic effects of X monosomy in humans and other mammals in terms of X chromosome gene dosage.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Aneuploidy
  • Animals
  • Dosage Compensation, Genetic
  • Haplotypes
  • Humans
  • Monosomy*
  • X Chromosome Inactivation
  • X Chromosome*