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PMID: 10577916 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

American journal of human genetics ·Vol. 65 ·No. 6 ·1999-12-00 ·Pages 1623-38

Bosch E, Calafell F, Santos FR, Pérez-Lezaun A, Comas D, Benchemsi N, Tyler-Smith C, Bertranpetit J

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.

MeSH Terms
Africa, Northern Alleles Evolution, Molecular Gene Frequency/genetics Genetic Variation/genetics Haplotypes/genetics Humans Male Microsatellite Repeats/genetics Polymorphism, Genetic/genetics Reproducibility of Results Spain Tandem Repeat Sequences/genetics Time Factors Y Chromosome/genetics
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Bosch E
Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain.
Calafell F
Santos F R
Pérez-Lezaun A
Comas D
Benchemsi N
Tyler-Smith C
Bertranpetit J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302676
Published
1999-12-00
Pages
1623-38
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1288373
Subset
IM
External Links
PubMed source DOI: 10.1086/302676 PMC Full Text View journal details
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