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Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome

Identifieur interne : 000001 ( Ncbi/Merge ); précédent : 000000; suivant : 000002

Variation 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 ; Anna Pérez-Lezaun [Espagne] ; David Comas [Espagne] ; Noufissa Benchemsi [Maroc] ; Chris Tyler-Smith [Royaume-Uni] ; Jaume Bertranpetit [Espagne]

Source :

RBID : PMC:1288373

Abstract

Summary

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.


Url:
PubMed: 10577916
PubMed Central: 1288373

Links toward previous steps (curation, corpus...)


Links to Exploration step

PMC:1288373

Le document en format XML

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<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>
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<article-title>Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome</article-title>
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<contrib-group>
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<name>
<surname>Bosch</surname>
<given-names>Elena</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
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<name>
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<given-names>Francesc</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
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<name>
<surname>Santos</surname>
<given-names>Fabrício R.</given-names>
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</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
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<name>
<surname>Comas</surname>
<given-names>David</given-names>
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<name>
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<given-names>Chris</given-names>
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<name>
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<given-names>Jaume</given-names>
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<sup>1</sup>
Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona;
<sup>2</sup>
Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford;
<sup>3</sup>
Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; and
<sup>4</sup>
Centre National de Transfusion Sanguine, Rabat, Morocco</aff>
<author-notes>
<corresp>Address for correspondence and reprints: Dr. Jaume Bertranpetit, Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003 Barcelona, Catalonia, Spain. E-mail:
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<month>12</month>
<year>1999</year>
</pub-date>
<pub-date pub-type="epub">
<day>23</day>
<month>11</month>
<year>1999</year>
</pub-date>
<volume>65</volume>
<issue>6</issue>
<fpage>1623</fpage>
<lpage>1638</lpage>
<history>
<date date-type="received">
<day>21</day>
<month>7</month>
<year>1999</year>
</date>
<date date-type="accepted">
<day>8</day>
<month>9</month>
<year>1999</year>
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<copyright-statement>© 1999 by The American Society of Human Genetics. All rights reserved.</copyright-statement>
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<self-uri>10577916</self-uri>
<abstract>
<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>
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   |area=    TamazightV2
   |flux=    Ncbi
   |étape=   Merge
   |type=    RBID
   |clé=     PMC:1288373
   |texte=   Variation in Short Tandem Repeats Is Deeply Structured by Genetic
 Background on the Human Y Chromosome
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i   -Sk "pubmed:10577916" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd   \
       | NlmPubMed2Wicri -a TamazightV2 

Wicri

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Data generation: Wed Nov 15 18:28:35 2017. Site generation: Sat Feb 10 16:46:27 2024