Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome
Identifieur interne : 001101 ( Main/Curation ); précédent : 001100; suivant : 001102Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome
Auteurs : Elena Bosch [Espagne] ; Francesc Calafell [Espagne] ; Fabrício R. Santos [Royaume-Uni] ; Anna Pérez-Lezaun [Espagne] ; David Comas [Espagne] ; Noufissa Benchemsi [Maroc] ; Chris Tyler-Smith [Royaume-Uni] ; Jaume Bertranpetit [Espagne]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 1999.
English descriptors
Abstract
SummaryEleven 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.
Url:
- https://api.istex.fr/document/2FDA73F09B96FAB4A355FE4895BF85567D490FEF/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288373
DOI: 10.1086/302676
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ISTEX:2FDA73F09B96FAB4A355FE4895BF85567D490FEFLe document en format XML
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<front><div type="abstract">SummaryEleven 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.</div>
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<front><div type="abstract">SummaryEleven 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.</div>
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Background on the Human Y Chromosome</title>
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<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Santos, Fabricio R" sort="Santos, Fabricio R" uniqKey="Santos F" first="Fabrício R." last="Santos">Fabrício R. Santos</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Perez Lezaun, Anna" sort="Perez Lezaun, Anna" uniqKey="Perez Lezaun A" first="Anna" last="Pérez-Lezaun">Anna Pérez-Lezaun</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Benchemsi, Noufissa" sort="Benchemsi, Noufissa" uniqKey="Benchemsi N" first="Noufissa" last="Benchemsi">Noufissa Benchemsi</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Centre National de Transfusion Sanguine, Rabat, Morocco</nlm:aff>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Centre National de Transfusion Sanguine, Rabat</wicri:regionArea>
<placeName><settlement type="city">Rabat</settlement>
<region nuts="2">Rabat-Salé-Kénitra</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford;</nlm:aff>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
<wicri:orgArea>Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Bertranpetit, Jaume" sort="Bertranpetit, Jaume" uniqKey="Bertranpetit J" first="Jaume" last="Bertranpetit">Jaume Bertranpetit</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">10577916</idno>
<idno type="pmc">1288373</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288373</idno>
<idno type="RBID">PMC:1288373</idno>
<date when="1999">1999</date>
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<idno type="wicri:Area/Ncbi/Checkpoint">000001</idno>
<idno type="wicri:doubleKey">0002-9297:1999:Bosch E:variation:in:short</idno>
<idno type="wicri:Area/Main/Merge">001093</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Variation in Short Tandem Repeats Is Deeply Structured by Genetic
Background on the Human Y Chromosome</title>
<author><name sortKey="Bosch, Elena" sort="Bosch, Elena" uniqKey="Bosch E" first="Elena" last="Bosch">Elena Bosch</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Santos, Fabricio R" sort="Santos, Fabricio R" uniqKey="Santos F" first="Fabrício R." last="Santos">Fabrício R. Santos</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Perez Lezaun, Anna" sort="Perez Lezaun, Anna" uniqKey="Perez Lezaun A" first="Anna" last="Pérez-Lezaun">Anna Pérez-Lezaun</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Benchemsi, Noufissa" sort="Benchemsi, Noufissa" uniqKey="Benchemsi N" first="Noufissa" last="Benchemsi">Noufissa Benchemsi</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Centre National de Transfusion Sanguine, Rabat, Morocco</nlm:aff>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Centre National de Transfusion Sanguine, Rabat</wicri:regionArea>
<placeName><settlement type="city">Rabat</settlement>
<region nuts="2">Rabat-Salé-Kénitra</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford;</nlm:aff>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
<wicri:orgArea>Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Bertranpetit, Jaume" sort="Bertranpetit, Jaume" uniqKey="Bertranpetit J" first="Jaume" last="Bertranpetit">Jaume Bertranpetit</name>
<affiliation wicri:level="3"><nlm:aff id="N0x919da98.0x963b920">Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;</nlm:aff>
<country>Espagne</country>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
<wicri:orgArea>Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra</wicri:orgArea>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="1999">1999</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><title>Summary</title>
<p>Eleven 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.</p>
</div>
</front>
</TEI>
</PMC>
</double>
</record>
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