Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism

We have examined the worldwide distribution of a Y-chromosomal base-substitution polymorphism, the T/C transition at SRY-2627, where the T allele defines haplogroup 22; sequencing of primate homologues shows that the ancestral state cannot be determined unambiguously but is probably the C allele. Of...

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Published in:American journal of human genetics 1999-11, Vol.65 (5), p.1437-1448
Main Authors: Hurles, Matthew E., Veitia, Reiner, Arroyo, Eduardo, Armenteros, Manuel, Bertranpetit, Jaume, Pérez-Lezaun, Anna, Bosch, Elena, Shlumukova, Maria, Cambon-Thomsen, Anne, McElreavey, Ken, López de Munain, Adolfo, Röhl, Arne, Wilson, Ian J., Singh, Lalji, Pandya, Arpita, Santos, Fabrício R., Tyler-Smith, Chris, Jobling, Mark A.
Format: Article
Language:English
Subjects:
Base Sequence
Basques
Biological and medical sciences
Dating
DNA-Binding Proteins - genetics
Ethnicity
Evolution, Molecular
Fundamental and applied biological sciences. Psychology
Gene flow
Genetics of eukaryotes. Biological and molecular evolution
Haplotype
Haplotypes
Human
Humans
Iberia
Language
Male
Microsatellite Repeats - genetics
Molecular Sequence Data
Nuclear Proteins
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Population genetics, reproduction patterns
Sex-Determining Region Y Protein
Spain
Transcription Factors
Y chromosome
Y Chromosome - genetics
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Summary:We have examined the worldwide distribution of a Y-chromosomal base-substitution polymorphism, the T/C transition at SRY-2627, where the T allele defines haplogroup 22; sequencing of primate homologues shows that the ancestral state cannot be determined unambiguously but is probably the C allele. Of 1,191 human Y chromosomes analyzed, 33 belong to haplogroup 22. Twenty-nine come from Iberia, and the highest frequencies are in Basques (11%; n=117) and Catalans (22%; n=32). Microsatellite and minisatellite (MSY1) diversity analysis shows that non-Iberian haplogroup-22 chromosomes are not significantly different from Iberian ones. The simplest interpretation of these data is that haplogroup 22 arose in Iberia and that non-Iberian cases reflect Iberian emigrants. Several different methods were used to date the origin of the polymorphism: microsatellite data gave ages of 1,650, 2,700, 3,100, or 3,450 years, and MSY1 gave ages of 1,000, 2,300, or 2,650 years, although 95% confidence intervals on all of these figures are wide. The age of the split between Basque and Catalan haplogroup-22 chromosomes was calculated as only 20% of the age of the lineage as a whole. This study thus provides evidence for direct or indirect gene flow over the substantial linguistic barrier between the Indo-European and non–Indo-European–speaking populations of the Catalans and the Basques, during the past few thousand years.
ISSN:0002-9297
1537-6605
DOI:10.1086/302617