Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome
Identifieur interne : 000001 ( Ncbi/Checkpoint ); précédent : 000000; suivant : 000002Variation 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 :
- American Journal of Human Genetics [ 0002-9297 ] ; 1999.
Abstract
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
Affiliations:
- Espagne, Maroc, Royaume-Uni
- Angleterre, Catalogne, Oxfordshire, Rabat-Salé-Kénitra
- Barcelone, Oxford, Rabat
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PMC:1288373Le document en format XML
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Background on the Human Y Chromosome</title>
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<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>
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<affiliations><list><country><li>Espagne</li>
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<li>Oxfordshire</li>
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<li>Oxford</li>
<li>Rabat</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Santos, Fabricio R" sort="Santos, Fabricio R" uniqKey="Santos F" first="Fabrício R." last="Santos">Fabrício R. Santos</name>
</noCountry>
<country name="Espagne"><region name="Catalogne"><name sortKey="Bosch, Elena" sort="Bosch, Elena" uniqKey="Bosch E" first="Elena" last="Bosch">Elena Bosch</name>
</region>
<name sortKey="Bertranpetit, Jaume" sort="Bertranpetit, Jaume" uniqKey="Bertranpetit J" first="Jaume" last="Bertranpetit">Jaume Bertranpetit</name>
<name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name>
<name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name>
<name sortKey="Perez Lezaun, Anna" sort="Perez Lezaun, Anna" uniqKey="Perez Lezaun A" first="Anna" last="Pérez-Lezaun">Anna Pérez-Lezaun</name>
</country>
<country name="Maroc"><region name="Rabat-Salé-Kénitra"><name sortKey="Benchemsi, Noufissa" sort="Benchemsi, Noufissa" uniqKey="Benchemsi N" first="Noufissa" last="Benchemsi">Noufissa Benchemsi</name>
</region>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name>
</region>
</country>
</tree>
</affiliations>
</record>
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