Characterization of a Native American mtDNA haplogroup C lineage

JUST, REBECCA; MOTTI, JOSEFINA MARÍA BRENDA; GORDEN, ERIN M.; COBLE, MICHAEL D.; BRAVI, CLAUDIO M.

Buenos Aires

Congreso; 23 rd World Congress International Society for Forensic Genetics; 2009

International Society for Forensic Genetics

Introduction and Aims A new mtDNA haplogroup C founder lineage (“C4c”) was recently identified by Tamm et al. (2007) in two Native Americans from Columbia . The aim of the present study was to generate additional entire mitochondrial genome sequences to further characterize this clade.                 Materials and Methods U.S. and Argentine mtDNA control region population databases were 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 these samples and from five private donors (N=21).  A most parsimonious phylogenetic tree for sub-haplogroup C4 incorporating both the newly generated and published C4 entire mtDNA genome sequences was constructed and considered in comparison to recently published phylogenies (Tamm et al. 2007, Volodko et al. 2008, van Oven and Kayser 2008). Results and Discussion 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 (van Oven and Kayser 2008). Fourteen of the newly generated sequences and the previously published Columbian genome cluster together and comprise a Native American clade we term C4a3. A coalescent time estimated for the three C4a clades is in agreement with previously published estimates for the divergence of Native American and Asian lineages (Achilli et al. 2008). These data refine a poorly characterized Native American founder lineage and the sub-haplogroup C4 phylogeny, and will assist forensic practitioners in distinguishing Native American from Asian haplogroup C sequences.