Abstract:
:Human endogenous retroviruses (HERVs) are the remnants of ancient germ cell infection by exogenous retroviruses and occupy up to 8% of the human genome. It has been suggested that HERV sequences have contributed to primate evolution by regulating the expression of cellular genes and mediating chromosome rearrangements. After integration approximately 28 million years ago, members of the HERV-K (HML-2) family have continued to amplify and recombine. To investigate the utility of HML-2 polymorphisms as markers for the study of more recent human evolution, we compiled a list of the structure and integration sites of sequences that are unique to humans and screened each insertion for polymorphism within the human genome databases. Of the total of 74 HML-2 sequences, 18 corresponded to complete or near-complete proviruses, 49 were solitary long terminal repeats (LTRs), 6 were incomplete LTRs, and 1 was a SVA retrotransposon. A number of different allelic configurations were identified including the alternation of a provirus and solitary LTR. We developed polymerase chain reaction-based assays for seven HML-2 loci and screened 109 human DNA samples from Africa, Europe, Asia, and Southeast Asia. Our results indicate that the diversity of HML-2 elements is higher in African than non-African populations, with population differentiation values ranging from 0.6 to 9.8%. These findings denote a recent expansion from Africa. We compare the phylogenetic relationships of HML-2 sequences that are unique to humans and consider whether these elements have played a role in the remodeling of the hominid genome.
journal_name
J Mol Evoljournal_title
Journal of molecular evolutionauthors
Macfarlane C,Simmonds Pdoi
10.1007/s00239-004-2656-1keywords:
subject
Has Abstractpub_date
2004-11-01 00:00:00pages
642-56issue
5eissn
0022-2844issn
1432-1432journal_volume
59pub_type
杂志文章abstract::Autosomal chorion genes s18, s15, and s19 are shown to diverge at extremely rapid rates in closely related taxa of Hawaiian Drosophila. Their nucleotide divergence rates are at least as fast as those of intergenic regions that are known to evolve more extensively between distantly related species. Their amino acid div...
journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/BF02106055
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:1986-01-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:2008-05-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/BF00178872
更新日期:1993-10-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/BF02109481
更新日期:1990-08-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/BF01732678
更新日期:1981-01-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/BF01659163
更新日期:1972-06-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:1989-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:1991-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/s00239-003-0003-6
更新日期:2003-01-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/s00239-004-2609-8
更新日期:2004-08-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:1997-04-01 00:00:00
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pub_type: 杂志文章
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journal_title:Journal of molecular evolution
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pub_type: 杂志文章
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更新日期:2010-04-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:1979-12-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:2005-03-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
doi:10.1007/s00239-005-0187-z
更新日期:2006-11-01 00:00:00
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journal_title:Journal of molecular evolution
pub_type: 杂志文章
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更新日期:2008-09-01 00:00:00
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更新日期:2006-06-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2017-08-01 00:00:00