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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><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>
</affiliation>
</author>
<author><name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Benchemsi, Noufissa" sort="Benchemsi, Noufissa" uniqKey="Benchemsi N" first="Noufissa" last="Benchemsi">Noufissa Benchemsi</name>
<affiliation><nlm:aff id="N0x919da98.0x963b920">Centre National de Transfusion Sanguine, Rabat, Morocco</nlm:aff>
</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><nlm:aff id="N0x919da98.0x963b920">Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bertranpetit, Jaume" sort="Bertranpetit, Jaume" uniqKey="Bertranpetit J" first="Jaume" last="Bertranpetit">Jaume Bertranpetit</name>
<affiliation><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>
</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>
<idno type="wicri:Area/Pmc/Corpus">000010</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000010</idno>
</publicationStmt>
<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><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>
</affiliation>
</author>
<author><name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Benchemsi, Noufissa" sort="Benchemsi, Noufissa" uniqKey="Benchemsi N" first="Noufissa" last="Benchemsi">Noufissa Benchemsi</name>
<affiliation><nlm:aff id="N0x919da98.0x963b920">Centre National de Transfusion Sanguine, Rabat, Morocco</nlm:aff>
</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><nlm:aff id="N0x919da98.0x963b920">Cancer Research Campaign Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bertranpetit, Jaume" sort="Bertranpetit, Jaume" uniqKey="Bertranpetit J" first="Jaume" last="Bertranpetit">Jaume Bertranpetit</name>
<affiliation><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>
</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 article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="publisher-id">AJHG</journal-id>
<journal-title>American Journal of Human Genetics</journal-title>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>The American
Society of Human Genetics</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">10577916</article-id>
<article-id pub-id-type="pmc">1288373</article-id>
<article-id pub-id-type="publisher-id">991068</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Articles</subject>
</subj-group>
</article-categories>
<title-group><article-title>Variation in Short Tandem Repeats Is Deeply Structured by Genetic
Background on the Human Y Chromosome</article-title>
<alt-title>Y-Chromosome STRs and Genetic Background</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Bosch</surname>
<given-names>Elena</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Calafell</surname>
<given-names>Francesc</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Santos</surname>
<given-names>Fabrício R.</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">2,3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pérez-Lezaun</surname>
<given-names>Anna</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Comas</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Benchemsi</surname>
<given-names>Noufissa</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tyler-Smith</surname>
<given-names>Chris</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bertranpetit</surname>
<given-names>Jaume</given-names>
</name>
<xref ref-type="aff" rid="N0x919da98.0x963b920">1</xref>
</contrib>
</contrib-group>
<aff id="N0x919da98.0x963b920"><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:
<email>jaume.bertranpetit@cexs.upf.es</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><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>
</date>
</history>
<copyright-statement>© 1999 by The American
Society of Human Genetics. All rights
reserved.</copyright-statement>
<copyright-year>1999</copyright-year>
<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>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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