title: Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas.
abstract: BACKGROUND
  Population history can be reflected in group genetic ancestry, where genomic variation captured by the mitochondrial DNA (mtDNA) and non-recombining portion of the Y chromosome (NRY) can separate female- and male-specific admixture processes. Genetic ancestry may influence genetic association studies due to differences in individual admixture within recently admixed populations like African Americans.
  
  
  RESULTS
  We evaluated the genetic ancestry of Senegalese as well as European Americans and African Americans from Philadelphia. Senegalese mtDNA consisted of approximately 12% U haplotypes (U6 and U5b1b haplotypes, common in North Africa) while the NRY haplotypes belonged solely to haplogroup E. In Philadelphia, we observed varying degrees of admixture. While African Americans have 9-10% mtDNAs and approximately 31% NRYs of European origin, these results are not mirrored in the mtDNA/NRY pools of European Americans: they have less than 7% mtDNAs and less than 2% NRYs from non-European sources. Additionally, there is <2% Native American contribution to Philadelphian African American ancestry and the admixture from combined mtDNA/NRY estimates is consistent with the admixture derived from autosomal genetic data. To further dissect these estimates, we have analyzed our samples in the context of different demographic groups in the Americas.
  
  
  CONCLUSIONS
  We found that sex-biased admixture in African-derived populations is present throughout the Americas, with continual influence of European males, while Native American females contribute mainly to populations of the Caribbean and South America. The high non-European female contribution to the pool of European-derived populations is consistently characteristic of Iberian colonization. These data suggest that genomic data correlate well with historical records of colonization in the Americas.
authors: Department of Biostatistics and Epidemiology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America. Klara.Stefflova@cancer.org.uk
authors: Klara
authors: K
authors: Stefflova
authors: Matthew C
authors: MC
authors: Dulik
authors: Athma A
authors: AA
authors: Pai
authors: Amy H
authors: AH
authors: Walker
authors: Charnita M
authors: CM
authors: Zeigler-Johnson
authors: Serigne M
authors: SM
authors: Gueye
authors: Theodore G
authors: TG
authors: Schurr
authors: Timothy R
authors: TR
authors: Rebbeck
mesh_terms: D001741:Black or African American; D044383:Black People / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005788:Gene Pool; D005819:Genetic Markers; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D015143:Philadelphia; D012675:Senegal; D012737:Sex Factors; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers