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Explore scientific publications on population genetics, ancient DNA, and ancestry research.

1117 Publications
14659 Authors
186 Journals
23 Years
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Ancestry Podcast 1999-12-01

Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome.

F Calafell, F R Santos, A Pérez-Lezaun et al.

American journal of human geneticsAm J Hum GenetVariation in short tandem repeats is deeply structured by genetic background on the human Y chromosome.162316381623-38Eleven biallelic polymorphisms and seven short-tandem-repeat (STR) loci mapping on the nonrecombining portion of the human Y chromosome have been typed in men from northwestern Africa. Analysis of the biallelic markers, which represent probable unique events in human evolution, allowed us to characterize the stable backgrounds or haplogroups of Y chromosomes that prevail in this geographic region. Variation in the more rapidly mutating genetic markers (STRs) has been used both to estimate the time to the most recent common ancestor for STR variability within these stable backgrounds and to explore whether STR differentiation among haplogroups still retains information about their phylogeny. When analysis of molecular variance was used to study the apportionment of STR variation among both genetic backgrounds (i.e., those defined by haplogroups) and population backgrounds, we found STR variability to be clearly structured by haplogroups. More than 80% of the genetic variance was found among haplogroups, whereas only 3.72% of the genetic variation could be attributed to differences among populations-that is, genetic variability appears to be much more structured by lineage than by population. This was confirmed when two population samples from the Iberian Peninsula were added to the analysis. The deep structure of the genetic variation in old genealogical units (haplogroups) challenges a population-based perspective in the comprehension of human genome diversity. A population may be better understood as an association of lineages from a deep and population-independent gene genealogy, rather than as a complete evolutionary unit.BoschEEUnitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain.CalafellFFSantosF RFRPérez-LezaunAAComasDDBenchemsiNNTyler-SmithCCBertranpetitJJengJournal ArticleResearch Support, Non-U.S. Gov'tUnited StatesAm J Hum Genet03704750002-9297IMAfrica, NorthernAllelesEvolution, MolecularGene FrequencygeneticsGenetic VariationgeneticsHaplotypesgeneticsHumansMaleMicrosatellite RepeatsgeneticsPolymorphism, GeneticgeneticsReproducibility of ResultsSpainTandem Repeat SequencesgeneticsTime FactorsY Chromosomegenetics199912190200032190199912190200061ppublish10577916PMC128837310.1086/302676S0002-9297(07)63582-4Electronic-Database Information

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F Calafell, F R Santos et al.
American journal of human geneticsAm J Hum GenetVariation in short tandem repeats is deeply structured by genetic background on the human Y chromosome.162316381623-38Eleven biallelic polymorphisms and seven short-tandem-repeat (STR) loci mapping on the nonrecombining portion of the human Y chromosome have been typed in men from northwestern Africa. Analysis of the biallelic markers, which represent probable unique events in human evolution, allowed us to characterize the stable backgrounds or haplogroups of Y chromosomes that prevail in this geographic region. Variation in the more rapidly mutating genetic markers (STRs) has been used both to estimate the time to the most recent common ancestor for STR variability within these stable backgrounds and to explore whether STR differentiation among haplogroups still retains information about their phylogeny. When analysis of molecular variance was used to study the apportionment of STR variation among both genetic backgrounds (i.e., those defined by haplogroups) and population backgrounds, we found STR variability to be clearly structured by haplogroups. More than 80% of the genetic variance was found among haplogroups, whereas only 3.72% of the genetic variation could be attributed to differences among populations-that is, genetic variability appears to be much more structured by lineage than by population. This was confirmed when two population samples from the Iberian Peninsula were added to the analysis. The deep structure of the genetic variation in old genealogical units (haplogroups) challenges a population-based perspective in the comprehension of human genome diversity. A population may be better understood as an association of lineages from a deep and population-independent gene genealogy, rather than as a complete evolutionary unit.BoschEEUnitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain.CalafellFFSantosF RFRPérez-LezaunAAComasDDBenchemsiNNTyler-SmithCCBertranpetitJJengJournal ArticleResearch Support, Non-U.S. Gov'tUnited StatesAm J Hum Genet03704750002-9297IMAfrica, NorthernAllelesEvolution, MolecularGene FrequencygeneticsGenetic VariationgeneticsHaplotypesgeneticsHumansMaleMicrosatellite RepeatsgeneticsPolymorphism, GeneticgeneticsReproducibility of ResultsSpainTandem Repeat SequencesgeneticsTime FactorsY Chromosomegenetics199912190200032190199912190200061ppublish10577916PMC128837310.1086/302676S0002-9297(07)63582-4Electronic-Database Information
1999-12-01
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