Immunoglobulin genes in Andalusia (Spain). Genetic diversity in the Mediterranean space

Fortes-Lima, César; Dugoujon, Jean‐Michel; Hernández, Candela; Reales, Guillermo; Calderón, R.

doi:10.1016/j.crvi.2014.08.004

Cited by 6 publications

(3 citation statements)

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“…The evolutionary origins of the L0, L1, L2 and L3 lineages are located in sub-Saharan Africa [ 41 ]. The neat markers of mtDNA L lineages among North Africans again support the view that the Sahara desert has not been an insurmountable barrier to the populations that border it ([ 15 , 38 , 42 ], among others). The M1 haplogroup is weakly represented in Andalusia <1% (Iberia: 0–2.1%), whereas in Moroccan Berbers, the frequencies vary between 2.1 and 4.3%.…”

Section: Resultssupporting

confidence: 54%

“…Comparatively, markers are less abundant for paternal genes although we have found visible traces of the North African E-M81 Y-chromosome lineage (referred to as the “Berber marker”) in the Andalusian gene pool [ 13 , 14 ]. A recently published study aimed at analyzing the geographic distribution of autosomal immunoglobulin genes at the GM locus across the Mediterranean highlighted the relatively high frequency (4% on average) of the sub-Saharan GM 1 , 17 5* haplotype in the Andalusian and neighboring Iberian Atlantic regions compared to other Mediterranean European populations [ 15 ]. These findings are understandable given the variation patterns of African mtDNA haplogroups across the Iberian Peninsula.…”

Section: Introductionmentioning

confidence: 99%

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Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm

et al. 2015

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Determining the timing, identity and direction of migrations in the Mediterranean Basin, the role of “migratory routes” in and among regions of Africa, Europe and Asia, and the effects of sex-specific behaviors of population movements have important implications for our understanding of the present human genetic diversity. A crucial component of the Mediterranean world is its westernmost region. Clear features of transcontinental ancient contacts between North African and Iberian populations surrounding the maritime region of Gibraltar Strait have been identified from archeological data. The attempt to discern origin and dates of migration between close geographically related regions has been a challenge in the field of uniparental-based population genetics. Mitochondrial DNA (mtDNA) studies have been focused on surveying the H1, H3 and V lineages when trying to ascertain north-south migrations, and U6 and L in the opposite direction, assuming that those lineages are good proxies for the ancestry of each side of the Mediterranean. To this end, in the present work we have screened entire mtDNA sequences belonging to U6, M1 and L haplogroups in Andalusians—from Huelva and Granada provinces—and Moroccan Berbers. We present here pioneer data and interpretations on the role of NW Africa and the Iberian Peninsula regarding the time of origin, number of founders and expansion directions of these specific markers. The estimated entrance of the North African U6 lineages into Iberia at 10 ky correlates well with other L African clades, indicating that U6 and some L lineages moved together from Africa to Iberia in the Early Holocene. Still, founder analysis highlights that the high sharing of lineages between North Africa and Iberia results from a complex process continued through time, impairing simplistic interpretations. In particular, our work supports the existence of an ancient, frequently denied, bridge connecting the Maghreb and Andalusia.

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Section: Resultssupporting

confidence: 54%

Section: Introductionmentioning

confidence: 99%

Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm

et al. 2015

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“…Large-scale screenings of human populations worldwide have uncovered considerable variability both in the kinds of GM haplotypes and in their frequencies. This led to new insights regarding genetic admixture, biogeography, ethno-anthropology, evolutionary biology and population genetics [22][23][24][25][26].…”

Section: Blood Group and Immunogenetic Markers Used In Genetic Studiesmentioning

confidence: 99%

Revisiting the demographic history of Central African populations from a genetic perspective

Breton

Fortes-Lima

Schlebusch

2021

Hum Popul Genet Genom

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Africa is the continent of our species’ origin and the deep history of humans is represented by African genetic variation. Through genetic studies, it has become evident that deep African population history is captured by relationships among African hunter-gatherers and that the world’s deepest population divergences occur among these groups. In this review, we look back at a study published by Cavalli-Sforza and colleagues in 1969 entitled “Studies on African Pygmies. I. A pilot investigation of Babinga Pygmies in the Central African Republic (with an analysis of genetic distances)”. The study analyzed 19 classical polymorphisms and found that the deepest divergences in African populations were represented by hunter-gatherer groups such as the southern African San and the central African rainforest hunter-gatherers. We repeated the original analyses from Cavalli-Sforza et al. [1] with about 22 thousand times more genome-wide genetic markers in populations similar to those included in the original study. Our high-resolution analyses gave similar results regarding the relationships of early-diverging African populations compared to the classical polymorphism analyses. This finding, however, does not imply that research has stagnated and that developments in technology and genetic methods over the last fifty years delivered no additional information regarding African history and adaptation. We review how technology and population genetic methods have advanced to give more detailed inferences about population structure, migrations, admixture patterns, timing of admixture, sex-biased admixture, and inferences of selection and adaptive introgression in rainforest hunter-gatherers and other African populations. We also comment on how sequencing of ancient DNA has influenced findings and deliberate on the progress and development of more complex models of African history, including alternatives to tree-models and the inference of possible archaic admixture in African populations. We review the growing complexity of our picture of population history in central Africa and Africa as a whole, emerging from genomic studies and other disciplines investigating human population history and adaptation. While data and knowledge are accumulating, certain populations and areas remain underrepresented in genomic research. Their inclusion, possibly also through ancient DNA studies, together with new methods of analysis and the testing of representative models of deep population history in Africa, will help to build a more complete picture of past population history in Africa. Based on “Cavalli-Sforza LL, Zonta LA, Nuzzo F, Bernini L, de Jong WW, Meera Khan P, Ray AK, Went LN, Siniscalco M, Nijenhuis LE, van Loghem E, Modiano G. Studies on African Pygmies. I. A pilot investigation of Babinga Pygmies in the Central African Republic (with an analysis of genetic distances). Am J Hum Genet. 1969 May;21(3):252-274”.

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Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula

Sánchez-Martínez

Hernández

Rodríguez

et al. 2021

Annals of Human Biology

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Immunoglobulin genes in Andalusia (Spain). Genetic diversity in the Mediterranean space

Cited by 6 publications

References 67 publications

Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm

Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm

Revisiting the demographic history of Central African populations from a genetic perspective

Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula

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