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PMID: 7942855 Published · ppublish English Clinical Trial Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.

American journal of human genetics ·Vol. 55 ·No. 4 ·1994-10-00 ·Pages 760-76

Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC

Abstract

mtDNA sequence variation was examined in 175 Caucasians from the United States and Canada by PCR amplification and high-resolution restriction-endonuclease analysis. The majority of the Caucasian mtDNAs were subsumed within four mtDNA lineages (haplogroups) defined by mutations that are rarely seen in Africans and Mongoloids. The sequence divergence of these haplogroups indicates that they arose early in Caucasian radiation and gave raise to modern European mtDNAs. Although ancient, none of these haplogroups is old enough to be compatible with a Neanderthal origin, suggesting that Homo sapiens sapiens displaced H. s. neanderthaliensis, rather than mixed with it. The mtDNAs of one of these haplogroups have a unique homoplasmic insertion between nucleotide pair (np) 573 and np 574, within the D-loop control region. This insertion makes these mtDNAs prone to a somatic mutation that duplicates a 270-bp portion of the D-loop region between np 309 and np 572. This finding suggests that certain nonpathogenic mtDNA mutations could predispose individuals to mtDNA rearrangements.

MeSH Terms
Animals Archaeology Asians/genetics Base Sequence Biological Evolution Blacks/genetics Canada Chromosome Aberrations DNA Primers DNA, Mitochondrial/analysis,genetics Genetic Variation Haplotypes/genetics Hominidae/genetics Humans Models, Genetic Molecular Sequence Data Phylogeny Polymerase Chain Reaction/methods Restriction Mapping Time United States Whites/genetics
Chemicals
DNA Primers DNA, Mitochondrial
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Torroni A
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322.
Lott M T
Cabell M F
Chen Y S
Lavergne L
Wallace D C
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-10-00
Pages
760-76
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918284
Subset
IM
Grants
NIGMS NIH HHS · GM46915 · United States
NINDS NIH HHS · NS21328 · United States
External Links
PubMed source PMC Full Text View journal details
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