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

Chen, Jian-Min, Cooper, David Neil 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: 04 Jun 2017 09:34
URI: http://orca.cf.ac.uk/id/eprint/97071

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