Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects

Trends Genet. 2005 May;21(5):249-53. doi: 10.1016/j.tig.2005.02.012.

Abstract

Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability. Primary gene-dosage effects have been confirmed by recent transcriptome analyses. The importance (or existence) of trans-acting effects on disomic genes remains, surprisingly, controversial. In this article, I propose a model of the main genetic mechanisms that are responsible for producing the transcriptional derangement associated with trisomy. This has implications for future study design.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple
  • Chromosome Aberrations*
  • Down Syndrome / genetics*
  • Down Syndrome / metabolism
  • Gene Dosage*
  • Gene Expression Regulation
  • Humans
  • Transcription, Genetic*
  • Trisomy*