%0 Journal Article %J Hum Genet %D 2006 %T Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. %A Szamalek, Justyna M %A Goidts, Violaine %A Cooper, David N %A Hameister, Horst %A Kehrer-Sawatzki, Hildegard %K Animals %K Cell Line %K Cell Lineage %K Centromere %K Chromosome Breakage %K Chromosome Inversion %K Chromosomes, Human, Pair 1 %K Evolution, Molecular %K Humans %K In Situ Hybridization, Fluorescence %K Karyotyping %K Pan troglodytes %K Synteny %X

The human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in inverted orientation. We therefore propose that the pericentric inversion of HSA 1 was mediated by intra-chromosomal non-homologous recombination between these highly homologous segmental duplications that had themselves arisen only recently in the human lineage by duplicative transposition.

%B Hum Genet %V 120 %P 126-38 %8 2006 Aug %G eng %N 1 %1

http://www.ncbi.nlm.nih.gov/pubmed/16775709?dopt=Abstract

%R 10.1007/s00439-006-0209-y