Trypsinogen genes: insights into molecular evolution from the study of pathogenic mutations

Chen, Jian-Min, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Férec, Claude 2013. Trypsinogen genes: insights into molecular evolution from the study of pathogenic mutations. eLS, Wiley-Blackwell, (10.1002/9780470015902.a0006140.pub3)

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Abstract

The basic fuel for evolution is genetic variation that is subsequently acted on by natural selection. Selection may either act conservatively so as to ensure that features of structural or functional importance are retained (purifying selection), or it may act so as to favour those changes, which confer some advantageous characteristics (positive selection). Insights into these divergent evolutionary processes are sometimes generated through the study of pathogenic mutations, an archetypal example being the human trypsinogen genes. The integration of data gleaned from the functional characterisation of pathogenic missense mutations in the human cationic trypsinogen gene (PRSS1) with information obtained from comparative sequence analysis has provided evidence for stepwise selective pressures acting against prematurely activated trypsin within the human pancreas. Studies of PRSS1 mutations have also revealed evidence for past gene conversion events between the various trypsinogen gene family members and have helped to improve our understanding of the evolutionary history of these genes.

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; gene formation; missense mutation; natural selection; trypsinogen gene family;molecular evolution
Publisher:	Wiley-Blackwell
Last Modified:	02 Nov 2022 09:59
URI:	https://orca.cardiff.ac.uk/id/eprint/97053

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