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Zh Obshch Biol. 2012 Jan-Feb;73(1):3-20.

[Evolutionary recent insertions of mobile elements and their contribution to the structure of human genome].

[Article in Russian]

Abstract

Mobile elements are DNA fragments that are able to self-replicate within the genome of a host organism. Usually, mobile elements comprise about 40-50% of mammalian genome. In the present review, evolutionary recent insertions of mobile elements are considered which have occurred after divergence of human and chimpanzee ancestral forms, i.e. later than about 6 million years. Human-specific transposable elements are represented by relatively small number of copies that can be subdivided into four groups: HERV-K (HML-2), L1, Alu, and SVA. The number of human-specific copies of HERV-K (HML-2), L1, Alu, and SVA representatives amounts roughly to 150, 1200, 5500, and 860 copies per genome respectively. Furthermore, we succeeded in describing a new family of human-specific mobile elements that are present only in human genome and are absent in other primates. Insertions of human-specific mobile elements can be regarded as important candidates for the role of molecular-genetic agents of anthropogenesis--each new insertion of such a mobile element supplies the acceptor gene locus with the set of new functional sites for binding transcription factors that can make significant alterations to adjacent genes functioning. On the basis of known evidences confirming the influence of human-specific mobile elements on adjacent genes expression, total number of human genes regulated by them can be estimated like hundreds.

PMID:
22567964
[Indexed for MEDLINE]
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