Characterization of a Native American mtDNA haplogroup C lineage

JUST, REBECCA; MOTTI, JOSEFINA MARÍA BRENDA; GORDEN, ERIN M.; IRWIN, JODI A.; SAUNIER, JESSICA; SCHEIBLE, MELISSA; COBLE, MICHAEL D.; BRAVI, CLAUDIO M.

Roma Italia

Conferencia; Molecular Anthropology in the Genomic Era. 4th International conference of the series DNA polymorphisms in human populations; 2009

University La Sapienza

A new mtDNA haplogroup C founder lineage (“C4c”) was recently identified in two Native Americans from Colombia [1].  The aim of the present study was to generate additional entire mitochondrial genome sequences to further characterize this clade. An American mtDNA control region population database was searched for potential C4 lineages (i.e. any haplogroup C sequence not attributable to C1 or C5).  Entire mtDNA sequences were generated for a subset of the samples identified and from five private donors (n=21).  A C4 phylogenetic tree incorporating both the newly generated and published entire mtDNA genome sequences was constructed and considered in comparison to recently published phylogenies [1-3].We propose a revised definition of C4 in which previous Asian clades C4a and C4b are re-designated C4a1 and C4a2, and which now also includes former branch C7 [2,4]. Fourteen of the newly generated sequences and the previously published Colombian genome cluster together and comprise a Native American clade we term C4a3.  Coalescent times estimated for the C4a and C4a3 nodes are in agreement with previously published estimates for the divergence of Native American and Asian lineages [4]. The inclusion of two new Native American sequences within the Asian C4a1 clade may indicate additional haplogroup C4 American founders.  These data refine the poorly characterized Native American C4a3 founder lineage and modify the haplogroup C phylogeny.