Allele Variation of DYS19 and Y- Alu Insertion (YAP) Polymorphisms in Basques: An Insight into the Peopling of Europe and the Mediterranean Region

Calderón, R.; Carrión, Mónica; Pérez-Miranda, A.M.; Peña, José A.; Dugoujon, Jean‐Michel; Crouau‐Roy, Brigitte

doi:10.1353/hub.2003.0018

Cited by 9 publications

(4 citation statements)

References 21 publications

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“…However, the emerging panorama on the Pyrenean genetic diversity is based on quite fragmentary studies often focusing on the Basques. Molecular studies of the northern Navarre province have been carried out (Calderón et al 2000, 2003; Peña et al 2002), concerning GM and KM inmunoglobulin allotypes, three STRs loci from HLA region, DYS19 microsatellite and the YAP markers from Y chromosome. The studied sample was composed mainly of individuals of Baztan Valley (Western Pyrenees, Navarre province).…”

Section: Introductionmentioning

confidence: 99%

In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

López-Parra

Gusmão

Tavares

et al. 2009

Annals of Human Genetics

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SummaryThe male-mediated genetic legacy of the Pyrenean population was assessed through the analysis of 12 Y-STR and 27 Y-SNP loci in a sample of 169 males from 5 main geographical areas in the Spanish Pyrenees: Cinco Villas (Western Pyrenees), Jacetania and Valle de Arán (Central Pyrenees) and Alto Urgel and Cerdaña (Eastern Pyrenees). In the Iberian context, the Pyrenean samples present some specificities, being characterizeded by a high proportion of chromosomes R1b1b2-M269 (including the usually uncommon R1b1b2d-SRY 2627 and R1b1b2c-M153 types) or I2a2-M26 and low proportions of other haplogroups. Our results indicate that an old pre-Neolithic substrate is preponderant in populations of the whole Pyrenean fringe. However, AMOVA revealed a high level of substructure within Pyrenean populations, partially explained by drift effects as well as by the signature of an ancient genetic differentiation between Western and Eastern Pyrenees.

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Section: Introductionmentioning

confidence: 99%

In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

López-Parra

Gusmão

Tavares

et al. 2009

Annals of Human Genetics

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“…From one to 100 POALIN loci have been used in population studies (Hammer, 1994;Batzer et al, 1994Batzer et al, , 1996Sherry et al, 1994;Hammer et al, 1997;Rodriguez-Delfin et al, 1997;Bamshad et al, 2001;Comas et al, 2001;de Pancorbo et al, 2001;Nasidze et al, 2001;Watkins et al, 2001Watkins et al, , 2003Picornell et al, 2002;Calderon et al, 2003). Because each chromosome has its own unique evolutionary history, a relatively larger number of different POALINs may be needed to account for evolutionary and population factors such as selection, admixture, bottlenecks, linguistic barriers, disease, gene flow and stochastic variation.…”

Section: Introduction To Polymorphic Alu Insertions (Poalins)mentioning

confidence: 99%

Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review

Kulski¹,

Dunn²

2005

Cytogenet Genome Res

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Most polymorphic Alu insertions (POALINs) belong to a subgroup of the Alu multicopy retrotransposon family of short interspersed nucleotide elements (SINEs) that are categorized as AluYb8 and AluYa5. The number of AluYb8/AluYa5 members (∼4,492 copies) is significantly less than the ∼one million fixed Alu copies per human genome. We have studied the presence of POALINs within the Major Histocompatibility Complex (MHC) class I region on the short arm of chromosome 6 (6p21.3) because this region has a high gene density, many genes with immune system functions, large sequence variations and diversity, duplications and redundancy, and a strong association with more than 100 different diseases. Since little is known about POALINs within the MHC genomic region, we undertook to identify some of the members of the AluYb8/AluYa5 subfamily and to study their frequency of distribution and genetic characteristics in different populations. As a result of our comparative genomic analyses, we identified the insertion sites for five POALINs distributed within the MHC class I region. This brief review outlines the locations of the insertions and sequence features of the five MHC POALINs, their single site and haplotype frequencies in different geographic populations, and their association with different HLA class I genes and disease. We show that the MHC POALINs have a potential value as lineage and linkage markers for the study of human population genetics, disease associations, genomic diversity and evolution.

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“…Y-chromosome analyses reveal one haplotype (R1*M173), which appears to show evidence of expansion after the Last Glacial Maximum (Wells et al 2001) and a "high degree of non-Neolithic ancestry" in populations of Iberia (Flores et al 2004). Studies of Y-chromosome haplogroups among the Basques have demonstrated a high frequency of R1b, the most common haplogroup in Western Europe Calderon et al 2003;Flores et al 2004;Lucotte and Hazout 1996;Lucotte and Loirat 1999;Quintana-Murci et al 1999). Examination of Y-haplogroup diversity in Southeastern Europe demonstrated that the timing of the spread of agriculture in the region overlaps with the expansion of European Haplogroup I-M423, suggesting a cultural diffusion of agricultural technologies by autochthonous groups (Battaglia et al 2009).…”

mentioning

confidence: 99%

Paternal Genetic History of the Basque Population of Spain

et al. 2011

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Allele Variation of DYS19 and Y- Alu Insertion (YAP) Polymorphisms in Basques: An Insight into the Peopling of Europe and the Mediterranean Region

Cited by 9 publications

References 21 publications

In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review

Paternal Genetic History of the Basque Population of Spain

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