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Phenotypic heterogeneity

This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: "Phenotypic heterogeneity" – news · newspapers · books · scholar · JSTOR (June 2014) (Learn how and when to remove this message)

Phenotypic heterogeneity describes different mutations in the same gene that can sometimes give rise to strikingly different phenotypes.

E.g., certain loss-of-function mutations in the RET gene, which encodes a receptor tyrosine kinase, can cause dominantly inherited failure of development of colonic ganglia, leading to defective colonic motility and severe chronic constipation (Hirschsprung disease).[1][2][3]


  1. ^ Thompson and Thompson, Medical genetics[full citation needed]
  2. ^ Ackermann, Martin (August 2015). "A functional perspective on phenotypic heterogeneity in microorganisms". Nature Reviews Microbiology. 13 (8): 497–508. doi:10.1038/nrmicro3491. ISSN 1740-1534. PMID 26145732. S2CID 29846214.
  3. ^ Sumner, Edward R.; Avery, Simon V. (February 2002). "Phenotypic heterogeneity: differential stress resistance among individual cells of the yeast Saccharomyces cerevisiae". Microbiology. 148 (Pt 2): 345–351. doi:10.1099/00221287-148-2-345. ISSN 1350-0872. PMID 11832498.
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Phenotypic heterogeneity
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