@article {309747,
	title = {Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.},
	journal = {Hum Genet},
	volume = {120},
	year = {2006},
	month = {2006 Aug},
	pages = {126-38},
	abstract = {<p>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.</p>
},
	keywords = {Animals, Cell Line, Cell Lineage, Centromere, Chromosome Breakage, Chromosome Inversion, Chromosomes, Human, Pair 1, Evolution, Molecular, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Pan troglodytes, Synteny},
	issn = {0340-6717},
	doi = {10.1007/s00439-006-0209-y},
	author = {Szamalek, Justyna M and Goidts, Violaine and Cooper, David N and Hameister, Horst and Kehrer-Sawatzki, Hildegard}
}
