Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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."

Type

Journal article

Journal

American journal of human genetics

Publication Date

03/1996

Volume

58

Pages

595 - 608

Addresses

Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. HXS12@psurm.psu.edu

Keywords

Humans, Electron Transport Complex IV, DNA, Mitochondrial, RNA, Transfer, Lys, Sequence Analysis, DNA, Evolution, Molecular, Phylogeny, Sequence Deletion, Base Sequence, Repetitive Sequences, Nucleic Acid, Molecular Sequence Data, African Continental Ancestry Group, Ethnic Groups, Africa South of the Sahara, Genetic Variation