Exploring the potential relevance of human-specific genes to complex disease

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Kehrer-Sawatzki, Hildegard 2011. Exploring the potential relevance of human-specific genes to complex disease. Human Genomics 5 (2) , pp. 99-107.

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Abstract

Although human disease genes generally tend to be evolutionarily more ancient than non-disease genes, complex disease genes appear to be represented more frequently than Mendelian disease genes among genes of more recent evolutionary origin. It is therefore proposed that the analysis of human-specific genes might provide new insights into the genetics of complex disease. Cross-comparison with the Human Gene Mutation Database (http://www.hgmd.org) revealed a number of examples of disease-causing and disease-associated mutations in putatively human-specific genes. A sizeable proportion of these were missense polymorphisms associated with complex disease. Since both human-specific genes and genes associated with complex disease have often experienced particularly rapid rates of evolutionary change, either due to weaker purifying selection or positive selection, it is proposed that a significant number of human-specific genes may play a role in complex disease.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Publisher:	Henry Stewart Publications
ISSN:	1473-9542
Last Modified:	19 Oct 2022 08:47
URI:	https://orca.cardiff.ac.uk/id/eprint/19026

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