Phenotypic heterogeneity

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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]

References

  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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