| mtDNA control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans. | |
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MedLine Citation:
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PMID: 8644719 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The intergenic COII/tRNA(Lys) 9-bp deletion in human mtDNA, which is found at varying frequencies in Asia, Southeast Asia, Polynesia, and the New World, was also found in 81 of 919 sub-Saharan Africans. Using mtDNA control-region sequence data from a subset of 41 individuals with the deletion, we identified 22 unique mtDNA types associated with the deletion in Africa. A comparison of the unique mtDNA types from sub-Saharan Africans and Asians with the 9-bp deletion revealed that sub-Saharan Africans and Asians have sequence profiles that differ in the locations and frequencies of variant sites. Both phylogenetic and mismatch-distribution analysis suggest that 9-bp deletion arose independently in sub-Saharan Africa and Asia and that the deletion has arisen more than once in Africa. Within Africa, the deletion was not found among Khoisan peoples and was rare to absent in western and southwestern African populations, but it did occur in Pygmy and Negroid populations from central Africa and in Malawi and southern African Bantu-speakers. The distribution of the 9-bp deletion in Africa suggests that the deletion could have arisen in central Africa and was then introduced to southern Africa via the recent "Bantu expansion." |
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Authors:
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H Soodyall; L Vigilant; A V Hill; M Stoneking; T Jenkins |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 58 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1996 Mar |
Date Detail:
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Created Date: 1996-07-16 Completed Date: 1996-07-16 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 595-608 Citation Subset: IM |
Affiliation:
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Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. HXS12@psurm.psu.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Africa South of the Sahara African Continental Ancestry Group / genetics* Base Sequence DNA, Mitochondrial / genetics* Electron Transport Complex IV / genetics Ethnic Groups / genetics Evolution, Molecular Genetic Variation / genetics* Humans Molecular Sequence Data Phylogeny RNA, Transfer, Lys / genetics Repetitive Sequences, Nucleic Acid Sequence Analysis, DNA Sequence Deletion* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; 0/RNA, Transfer, Lys; EC 1.9.3.1/Electron Transport Complex IV |
| Comments/Corrections | |
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