Genetic modifiers and oligogenic inheritance.

Published online

Journal Article (Review)

Despite remarkable progress in the identification of mutations that drive genetic disorders, progress in understanding the effect of genetic background on the penetrance and expressivity of causal alleles has been modest, in part because of the methodological challenges in identifying genetic modifiers. Nonetheless, the progressive discovery of modifier alleles has improved both our interpretative ability and our analytical tools to dissect such phenomena. In this review, we analyze the genetic properties and behaviors of modifiers as derived from studies in patient populations and model organisms and we highlight conceptual and technological tools used to overcome some of the challenges inherent in modifier mapping and cloning. Finally, we discuss how the identification of these modifiers has facilitated the elucidation of biological pathways and holds the potential to improve the clinical predictive value of primary causal mutations and to develop novel drug targets.

Full Text

Cited Authors

  • Kousi, M; Katsanis, N

Published Date

  • June 1, 2015

Published In

Volume / Issue

  • 5 / 6

PubMed ID

  • 26033081

Pubmed Central ID

  • 26033081

Electronic International Standard Serial Number (EISSN)

  • 2157-1422

Digital Object Identifier (DOI)

  • 10.1101/cshperspect.a017145


  • eng

Conference Location

  • United States