Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy

J Neurosci Res. 2017 Jan 2;95(1-2):311-319. doi: 10.1002/jnr.23951.

Abstract

The X chromosome has played a critical role in the development of sexually selected characteristics for over 300 million years, and during that time it has accumulated a disproportionate number of genes concerned with mental functions. There are relatively specific effects of X-linked genes on social cognition, language, emotional regulation, visuospatial, and numerical skills. Many human X-linked genes outside the X-Y pairing pseudoautosomal regions escape X-inactivation. Dosage differences in the expression of such genes (which constitute at least 15% of the total) are likely to play an important role in male-female neural differentiation, and in cognitive deficits and behavioral characteristics, particularly in the realm of social communication, that are associated with sex chromosome aneuploidies. © 2016 Wiley Periodicals, Inc.

Keywords: ADHD; X chromosome; Y chromosome; autism; language.

Publication types

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

MeSH terms

  • Aneuploidy*
  • Animals
  • Brain / pathology
  • Brain / physiology*
  • Cognition / physiology*
  • Humans
  • Mental Disorders / genetics
  • Mental Disorders / pathology
  • Mental Disorders / physiopathology
  • Sex Characteristics*
  • Sex Chromosomes / genetics*
  • Sex Differentiation / genetics
  • Social Behavior*