Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci

Oncogene. 2009 Sep 24;28(38):3345-8. doi: 10.1038/onc.2009.194. Epub 2009 Jul 13.

Abstract

The two alleles of a gene can be expressed at different levels, the extreme example being imprinting, a condition in which one allele is totally suppressed. Recently, subtle differences in the expression of the two alleles have been detected in numerous human genes and in a few cases, have been associated with a genetic predisposition to disease. The underlying mechanisms are largely unexplored.

Publication types

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

MeSH terms

  • Alleles*
  • Chromosome Mapping
  • Colorectal Neoplasms / genetics
  • Gene Expression*
  • Genetic Predisposition to Disease*
  • Humans
  • Polymorphism, Single Nucleotide
  • Regulatory Elements, Transcriptional