engleski

Intragene higher order repeats in neuroblastoma breakpoint family genes distinguish humans from chimpanzees

We identify two particular intragene structures of noncoding human DNA, spanning as much as hundreds kilobases, that are present in human genome but are absent from the chimpanzee genome and other nonhuman primates. Using our novel computational method, Global Repeat Map, we examine tandem repeat structure in human and chimpanzee chromosome 1, we find three higher order repeats (HORs), two of them novel, not reported previously, whereas in chimpanzee chromosome 1, we find only one HOR, a 2mer alphoid HOR instead of human alphoid 11mer HOR. In human chromosome 1, we identify an HOR based on 39-bp primary repeat unit, with secondary, tertiary, and quartic repeat units, fully embedded in human hornerin gene, releated to regenerating and psoriatic skin. Such an HOR is not found in chimpanzee chromosome 1. We find a remarkable human 3mer organization based on the 1.6-kb primary repeat unit, fully embedded within the neuroblastoma breakpoint family genes, which is related to the function of the human brain. Such HORs are not present in chimpanzees. In general , we find that human-chimpanzee differences are much larger for tandem repeats, in particular for HORs, than for gene sequences. This may be of great significance in light of recent studies that are beginning to reveal the large-scale regulatory architecture of the human genome, in particular the role of noncoding sequences. We hypothesize about the possible role of human accelerated HOR patterns as components in the gene expression multilayered regulatory network.

Intragene; Higher order repeats; Neuroblastoma breakpoint family gene; human genome; chimpanzee genome; global repeat map algorithm

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