title: Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees.
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 approximately 800 kb to approximately 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.
authors.affiliation: Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
authors.forename: Justyna M
authors.initials: JM
authors.lastname: Szamalek
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
authors.forename: Werner
authors.initials: W
authors.lastname: Schempp
authors.forename: Peter
authors.initials: P
authors.lastname: Minich
authors.forename: Matthias
authors.initials: M
authors.lastname: Kohn
authors.forename: Josef
authors.initials: J
authors.lastname: Hoegel
authors.forename: Violaine
authors.initials: V
authors.lastname: Goidts
authors.forename: Horst
authors.initials: H
authors.lastname: Hameister
authors.forename: Hildegard
authors.initials: H
authors.lastname: Kehrer-Sawatzki
mesh_terms: D000818:Animals; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D023061:Gene Order; D015321:Gene Rearrangement; D014644:Genetic Variation; D016678:Genome / Q000235:genetics*; D023281:Genomics / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D002679:Pan troglodytes; D026801:Synteny