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)
|
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: | 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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