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Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

Zhang, Guojie, Pei, Zhang, Krawczak, Michael, Ball, Edward Vincent, Mort, Matthew Edwin, Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2010. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation 31 (12) , pp. 1286-1293. 10.1002/humu.21389

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Abstract

Triangulation of the human, chimpanzee, and Neanderthal genome sequences with respect to 44,348 disease-causing or disease-associated missense mutations and 1,712 putative regulatory mutations listed in the Human Gene Mutation Database was employed to identify genetic variants that are apparently pathogenic in humans but which may represent a “compensated” wild-type state in at least one of the other two species. Of 122 such “potentially compensated mutations” (PCMs) identified, 88 were deemed “ancestral” on the basis that the reported wild-type Neanderthal nucleotide was identical to that of the chimpanzee. Another 33 PCMs were deemed to be “derived” in that the Neanderthal wild-type nucleotide matched the human but not the chimpanzee wild-type. For the remaining PCM, all three wild-type states were found to differ. Whereas a derived PCM would require compensation only in the chimpanzee, ancestral PCMs are useful as a means to identify sites of possible adaptive differences between modern humans on the one hand, and Neanderthals and chimpanzees on the other. Ancestral PCMs considered to be disease-causing in humans were identified in two Neanderthal genes (DUOX2, MAMLD1). Because the underlying mutations are known to give rise to recessive conditions in human, it is possible that they may also have been of pathological significance in Neanderthals.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords: Human ; Chimpanzee ; Neanderthal ; Genome sequence ; Potentially compensated mutation ; Complex disease susceptibility
Publisher: John Wiley & Sons
ISSN: 1059-7794
Last Modified: 07 Apr 2019 00:19
URI: http://orca.cf.ac.uk/id/eprint/22813

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