TY - JOUR
T1 - The mitochondrial landscape of African Americans
T2 - An examination of more than 2500 control region haplotypes from 22 U.S. locations
AU - Scheible, M.
AU - Just, R.
AU - Sturk-Andreaggi, K.
AU - Saunier, J.
AU - Parson, W.
AU - Parsons, T.
AU - Coble, M.
AU - Irwin, J.
N1 - Funding Information:
The authors would like to thank the Emerging Technologies Section, past and present, especially Toni Diegoli, Elizabeth Lyons, Katharine Strouss, Joanne Lee, Amanda Lehrmann, Kyla Harris, Brittany Box, Leslie Mounkes, Erin Gorden, Rachel Kinsel, Morgan Falk, Naila Bhatri (AFDIL) for data generation, analysis and review; Odile Loreille for ongoing support and fruitful discussion; Charla Marshall (AFDIL) for assistance with analyses; Liane Fendt, Theresa Harm, Gabriela Huber, Simone Nagl, Daniela Niederwieser, Alexander Röck, Christina Strobl, and Bettina Zimmermann (EMPOP, University of Innsbruck, Austria) for data analysis and assistance with database confirmation; an anonymous reviewer and John Buckleton for manuscript review and feedback; James Canik, Lanelle Chisolm, Brion Smith, COL Louis Finelli, CAPT Edward Reedy, Lt Col Laura Regan, Timothy McMahon, James Ross, Jon Norris, the American Registry of Pathology and the Armed Forces Medical Examiner System for logistical, administrative, and technical support; and the National Institute of Justice (InterAgency Agreement 2005-DN-R-086) for funding.
Publisher Copyright:
© 2016 Elsevier Ireland Ltd. All rights reserved.
PY - 2016/5/1
Y1 - 2016/5/1
N2 - The mitochondrial DNA (mtDNA) control region (16024-576) was Sanger-sequenced for a total of 2563 self-identified African Americans, using automated processing techniques and data review standards exceeding guidelines for forensic applications. Genetic diversity ranged from 0.9952 to 0.9998 in 22 population samples from 20 different states. Haplogroups of African ancestry, found in 82.48% of individuals overall, were most concentrated in the Southeast U.S. and decreased to the north and west. West African and West Central African haplotypes were well-represented in the population samples, especially in the southern U.S. states, while East African haplogroups were observed in low-frequency clusters in a handful of locations across the country. East Asian, Native American, and West Eurasian admixture was present in 3.16%, 2.93%, and 11.43% of samples, respectively. While some geographic substructure was detected across the population samples as clines in admixture frequencies, 20 of the 22 population samples were found to be statistically indistinguishable by pairwise comparisons and AMOVA calculations. Datasets from Hawaii and Idaho, however, were clear outliers. Overall, these more than 2500 control region sequences represent the most comprehensive regional sampling of African American mtDNA diversity to date, and are suitable for use in a forensic mtDNA database. The population data are made available via EMPOP (www.empop.org) and GenBank.
AB - The mitochondrial DNA (mtDNA) control region (16024-576) was Sanger-sequenced for a total of 2563 self-identified African Americans, using automated processing techniques and data review standards exceeding guidelines for forensic applications. Genetic diversity ranged from 0.9952 to 0.9998 in 22 population samples from 20 different states. Haplogroups of African ancestry, found in 82.48% of individuals overall, were most concentrated in the Southeast U.S. and decreased to the north and west. West African and West Central African haplotypes were well-represented in the population samples, especially in the southern U.S. states, while East African haplogroups were observed in low-frequency clusters in a handful of locations across the country. East Asian, Native American, and West Eurasian admixture was present in 3.16%, 2.93%, and 11.43% of samples, respectively. While some geographic substructure was detected across the population samples as clines in admixture frequencies, 20 of the 22 population samples were found to be statistically indistinguishable by pairwise comparisons and AMOVA calculations. Datasets from Hawaii and Idaho, however, were clear outliers. Overall, these more than 2500 control region sequences represent the most comprehensive regional sampling of African American mtDNA diversity to date, and are suitable for use in a forensic mtDNA database. The population data are made available via EMPOP (www.empop.org) and GenBank.
KW - African American
KW - Control region
KW - Mitochondrial DNA
UR - http://www.scopus.com/inward/record.url?scp=84959369235&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2016.01.002
DO - 10.1016/j.fsigen.2016.01.002
M3 - Article
C2 - 26919661
AN - SCOPUS:84959369235
SN - 1872-4973
VL - 22
SP - 139
EP - 148
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
ER -