Copyright © 1999 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 65, Issue 5, 1437-1448, 1 November 1999
doi:10.1086/302617
Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism
Matthew E. Hurles1, *, Reiner Veitia2, *, Eduardo Arroyo3, Manuel Armenteros4, Jaume Bertranpetit5, †, Anna Pérez-Lezaun5, †, Elena Bosch5, †, Maria Shlumukova1, ‡, Anne Cambon-Thomsen6, Ken McElreavey2, Adolfo López de Munain7, Arne Röhl8, Ian J. Wilson9, §, Lalji Singh10, Arpita Pandya11, Fabrício R. Santos11, ∥, Chris Tyler-Smith11 and Mark A. Jobling1, 
, 
1 Department of Genetics, University of Leicester, University Road, Leicester, United Kingdom
2 Unité d'Immunogénétique Humaine, Institut Pasteur, Paris
3 Universidad Complutense de Madrid, Facultad de Medicina, Policia Judicial, Guardia Civil, Madrid
4 Centro de Investigacion y Criminalistica, Laboratorio de ADN, Policia Judicial, Guardia Civil, Madrid
5 Unitat d'Anthropologia, Departimento de Biologia Animal, Universitat de Barcelona, Barcelona
6 INSERM U518, Faculté de Médecine, Toulouse
7 Servicio de Neurologia, Arantzazuko Amaren Ospitalea, San Sebastian, Spain
8 Mathematisches Seminar, Universität Hamburg, Hamburg
9 School of Biological Sciences, Queen Mary and Westfield College, London
10 Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad; India
11 CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford
Address for correspondence and reprints: Dr. Mark A. Jobling, Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, United Kingdom* The first two authors contributed equally to this work and are listed alphabetically.
† Present affiliation: Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona.
‡ Present affiliation: School of Biomedical Sciences, Queen's Medical Centre, Nottingham.
§ Present affiliation: Department of Mathematical Sciences, King's College, Aberdeen.
∥ Present affiliation: Departamento de Biologia Geral, Instituto Ciências Biologicas/Universidade Federal de Minas Gerais, Minas Gerais, Brazil.
Abstract
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.
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