Pathological missense mutations provide new insights into the evolution of trypsinogen genes

Chen, Jian-Min, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Férec, Claude 2008. Pathological missense mutations provide new insights into the evolution of trypsinogen genes. eLS, Wiley-Blackwell, (10.1002/9780470015902.a0006140.pub2)

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Abstract

Mutations in pathology and evolution represent two sides of the same coin in that disease-causing mutations tend to be found at those amino acid positions that exhibit the highest degree of evolutionary conservation. An archetypal example of the inter-relationship between pathology and evolution is provided by trypsinogen. Thus, studies of disease-causing mutations in the human cationic trypsinogen gene (PRSS1) have revealed evidence for past gene conversion events between the various gene family members. A combination of the functional characterization of subtle missense mutations with comparative sequence analysis has also revealed evidence for the action of natural selection operating on the trypsinogens during mammalian/vertebrate evolution

Item Type:	Book Section
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords:	chronic pancreatitis; gene conversion; missense mutation; natural selection; trypsinogen gene family evolution
Publisher:	Wiley-Blackwell
Last Modified:	02 Nov 2022 09:59
URI:	https://orca.cardiff.ac.uk/id/eprint/97071

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