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Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions

Khaled K Abu-Amero1*, Ali Hellani2, Ana M González3, Jose M Larruga3, Vicente M Cabrera3 and Peter A Underhill4

Author Affiliations

1 Molecular Genetics Laboratory, College of Medicine, King Saud University, Riyadh 11411, Saudi Arabia

2 Department of PGD, Saad Specialist Hospital, Al-Khobar, Saudi Arabia

3 Departamento de Genética, Universidad de La Laguna, 38271 La Laguna, Tenerife, Spain

4 Department of Psychiatry and Behavioural Sciences, Stanford University, School of Medicine, Stanford, California 94304, USA

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BMC Genetics 2009, 10:59  doi:10.1186/1471-2156-10-59

Published: 22 September 2009



Human origins and migration models proposing the Horn of Africa as a prehistoric exit route to Asia have stimulated molecular genetic studies in the region using uniparental loci. However, from a Y-chromosome perspective, Saudi Arabia, the largest country of the region, has not yet been surveyed. To address this gap, a sample of 157 Saudi males was analyzed at high resolution using 67 Y-chromosome binary markers. In addition, haplotypic diversity for its most prominent J1-M267 lineage was estimated using a set of 17 Y-specific STR loci.


Saudi Arabia differentiates from other Arabian Peninsula countries by a higher presence of J2-M172 lineages. It is significantly different from Yemen mainly due to a comparative reduction of sub-Saharan Africa E1-M123 and Levantine J1-M267 male lineages. Around 14% of the Saudi Arabia Y-chromosome pool is typical of African biogeographic ancestry, 17% arrived to the area from the East across Iran, while the remainder 69% could be considered of direct or indirect Levantine ascription. Interestingly, basal E-M96* (n = 2) and J-M304* (n = 3) lineages have been detected, for the first time, in the Arabian Peninsula. Coalescence time for the most prominent J1-M267 haplogroup in Saudi Arabia (11.6 ± 1.9 ky) is similar to that obtained previously for Yemen (11.3 ± 2) but significantly older that those estimated for Qatar (7.3 ± 1.8) and UAE (6.8 ± 1.5).


The Y-chromosome genetic structure of the Arabian Peninsula seems to be mainly modulated by geography. The data confirm that this area has mainly been a recipient of gene flow from its African and Asian surrounding areas, probably mainly since the last Glacial maximum onwards. Although rare deep rooting lineages for Y-chromosome haplogroups E and J have been detected, the presence of more basal clades supportive of the southern exit route of modern humans to Eurasian, were not found.