Human gene mutation in pathology and evolution [review]

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2002. Human gene mutation in pathology and evolution [review]. Journal of Inherited Metabolic Disease 25 (3) , pp. 157-182.

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Abstract

Mutations in human gene pathology and evolution represent two sides of the same coin in that the same mechanisms that have frequently been implicated in disease-associated mutagenesis appear also to have been involved in potentiating evolutionary change. Indeed, the mutational spectra of germline mutations responsible for inherited disease, somatic mutations underlying tumorigenesis, polymorphisms (either neutral or functionally significant) and differences between orthologous gene sequences exhibit remarkable similarities, implying that they may have causal mechanisms in common. Since these different categories of mutation share multiple unifying characteristics, they should no longer be viewed as distinct entities but rather as portions of a continuum of genetic change that links population genetics and molecular medicine with molecular evolution.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Springer
ISSN:	0141-8955
Last Modified:	25 Oct 2022 10:07
URI:	https://orca.cardiff.ac.uk/id/eprint/61203

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