Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms

Genome Research
Chiara RomualdiGuido Barbujani

Abstract

Previous studies have reported that about 85% of human diversity at Short Tandem Repeat (STR) and Restriction Fragment Length Polymorphism (RFLP) autosomal loci is due to differences between individuals of the same population, whereas differences among continental groups account for only 10% of the overall genetic variance. These findings conflict with popular notions of distinct and relatively homogeneous human races, and may also call into question the apparent usefulness of ethnic classification in, for example, medical diagnostics. Here, we present new data on 21 Alu insertions in 32 populations. We analyze these data along with three other large, globally dispersed data sets consisting of apparently neutral biallelic nuclear markers, as well as with a beta-globin data set possibly subject to selection. We confirm the previous results for the autosomal data, and find a higher diversity among continents for Y-chromosome loci. We also extend the analyses to address two questions: (1) whether differences between continental groups, although small, are nevertheless large enough to confidently assign individuals to their continent on the basis of their genotypes; (2) whether the observed genotypes naturally cluster into continen...Continue Reading

References

Sep 1, 1994·American Journal of Physical Anthropology·J H Relethford
Jan 1, 1995·Genetica·P Gill, I Evett
Oct 27, 1994·Nature·E S Lander, B Budowle
Mar 1, 1994·American Journal of Physical Anthropology·G J Armelagos
Sep 13, 1994·Proceedings of the National Academy of Sciences of the United States of America·M RuvoloM von Dornum
Nov 1, 1996·Genome Research·S S ArcotM A Batzer
Dec 24, 1996·Proceedings of the National Academy of Sciences of the United States of America·L J AusubelD A Hafler
Apr 29, 1997·Proceedings of the National Academy of Sciences of the United States of America·G BarbujaniL L Cavalli-Sforza
Jan 1, 1997·International Journal of Legal Medicine·M A JoblingC Tyler-Smith
Aug 19, 1997·Proceedings of the National Academy of Sciences of the United States of America·B Rannala, J L Mountain
Nov 14, 1997·Mutation Research·S S ArcotM A Batzer
Apr 29, 1998·Molecular Biology and Evolution·M F HammerS L Zegura
Aug 28, 1998·Journal of Molecular Biology·S S ArcotM A Batzer
Nov 7, 1998·Nature Genetics·M T SeielstadL L Cavalli-Sforza
Mar 3, 1999·American Journal of Human Genetics·T M KarafetM F Hammer
Mar 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·E E Harris, J Hey
Apr 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·P GagneuxD S Woodruff
Dec 22, 1999·The Journal of Clinical Endocrinology and Metabolism·C OddouxH Ostrer
Apr 14, 2000·American Journal of Human Genetics·M T Hamblin, A Di Rienzo
Sep 9, 2000·Genetics·L MarkovtsovaS Tavaré
Nov 4, 2000·Nature Genetics·P A UnderhillP J Oefner
Feb 17, 2001·American Journal of Human Genetics·W S WatkinsL B Jorde
Feb 17, 2001·Trends in Ecology & Evolution·M D. Jennions, R Brooks
Mar 10, 2001·Journal of the National Cancer Institute·R M HoffmanA L Potosky
Mar 14, 2001·The Journals of Gerontology. Series B, Psychological Sciences and Social Sciences·B A Shaw, N Krause
Apr 6, 2001·American Journal of Hematology·D A Estrada, H H Billett
Apr 20, 2001·Forensic Science International : Synergy·M Kayser, A Sajantila
May 26, 2001·Proceedings. Biological Sciences·I Nasidze, M Stoneking
Jun 23, 2001·Molecular Biology and Evolution·M F HammerS L Zegura
Oct 31, 2001·Nature Genetics·J F WilsonD B Goldstein

❮ Previous
Next ❯

Citations

Jul 17, 2008·Human Genetics·Francesc CalafellAntoine Blancher
Feb 6, 2007·Journal of Human Genetics·S García-ObregónJ A Peña
Apr 5, 2011·Journal of Community Health·Benrithung MurryK N Saraswathy
Dec 27, 2005·Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases·Rory BowdenPeter Donnelly
Nov 5, 2002·Trends in Genetics : TIG·Susan E Ptak, Molly Przeworski
Nov 16, 2002·Current Opinion in Genetics & Development·Laurent Excoffier
Nov 16, 2002·Current Opinion in Genetics & Development·Thomas H Eickbush, Anthony V Furano
Jun 6, 2003·Current Opinion in Genetics & Development·Andrew G Clark
Sep 28, 2004·Nature Genetics·Eran SegalAviv Regev
Oct 29, 2004·Nature Genetics·Mildred K Cho, Pamela Sankar
Mar 21, 2003·The New England Journal of Medicine·Richard S CooperRyk Ward
Feb 26, 2010·Medical Anthropology·Ian Whitmarsh
Apr 12, 2003·International Journal of Epidemiology·Richard S Cooper
Jun 12, 2012·Molecular Biology and Evolution·Thomas J MeyerMark A Batzer
Feb 27, 2007·JAAPA : Official Journal of the American Academy of Physician Assistants·Natalie Schmitz
Jan 5, 2011·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Eric Alden Smith
Mar 3, 2009·Genome Research·Ivan NasidzeMark Stoneking
Sep 2, 2004·Cold Spring Harbor Symposia on Quantitative Biology·J BertranpetitA Navarro
Aug 16, 2006·Annals of Human Genetics·Luciana Bastos-RodriguesSergio D J Pena
Nov 16, 2002·Science·Pamela Sankar, Mildred K Cho
May 12, 2009·Molekuliarnaia biologiia·V E Ramenskiĭ, Sh R Siuniaev
Jul 9, 2010·Molekuliarnaia biologiia·D S Solov'evaO P Balanovskiĭ
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Sarah A Tishkoff, Brian C Verrelli
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Rick A Kittles, Kenneth M Weiss
Oct 16, 2004·Annual Review of Genomics and Human Genetics·Guido Barbujani, David B Goldstein
Nov 17, 2004·Cytogenetic and Genome Research·A-H SalemM A Batzer
Mar 15, 2006·Human Heredity·Guido Barbujani, Elise M S Belle
Sep 28, 2006·Human Heredity·Michael SteffensMax P Baur
Oct 8, 2005·BMC Evolutionary Biology·David A Ray, Mark A Batzer
Mar 7, 2007·Genetics·D J WitherspoonL B Jorde
Aug 4, 2004·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·John W Belmont, Richard A Gibbs
Dec 8, 2011·Human Biology·Loth CherniAmel Benammar-Elgaaied
Dec 25, 2007·Pharmacogenomics·Marja K PasanenMikko Niemi
Apr 1, 2014·BMC Research Notes·Masharip AtadzhanovOwen A Ross
Feb 10, 2007·Psychosomatic Medicine·Jeanne M McCafferyEco de Geus
Oct 28, 2004·Nature Genetics·Lynn B Jorde, Stephen P Wooding
Oct 24, 2003·International Ophthalmology Clinics·M Roy Wilson

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