Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees

Szamalek, Justyna M., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Schempp, Werner, Minich, Peter, Kohn, Matthias, Hoegel, Josef, Goidts, Violaine, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2005. Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Human Genetics 119 (1-2) , pp. 103-112. 10.1007/s00439-005-0117-6

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Abstract

A combination of inter- and intra-species genome comparisons is required to identify and classify the full spectrum of genetic changes, both subtle and gross, that have accompanied the evolutionary divergence of humans and other primates. In this study, gene order comparisons of 11,518 human and chimpanzee orthologous gene pairs were performed to detect regions of inverted gene order that are potentially indicative of small-scale rearrangements such as inversions. By these means, a total of 71 potential micro-rearrangements were detected, nine of which were considered to represent micro-inversions encompassing more than three genes. These putative inversions were then investigated by FISH and/or PCR analyses and the authenticity of five of the nine inversions, ranging in size from ~800 kb to ~4.4 Mb, was confirmed. These inversions mapped to 1p13.2–13.3, 7p22.1, 7p13–14.1, 18p11.21–11.22 and 19q13.12 and encompass 50, 14, 16, 7 and 16 known genes, respectively. Intriguingly, four of the confirmed inversions turned out to be polymorphic: three were polymorphic in the chimpanzee and one in humans. It is concluded that micro-inversions make a significant contribution to genomic variability in both humans and chimpanzees and inversion polymorphisms may be more frequent than previously realized.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	31 Oct 2022 10:14
URI:	https://orca.cardiff.ac.uk/id/eprint/84122

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