When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista

F. Bauduer; M. E. de la Morena-Barrio; S. Salloum-Asfar; B. de la Morena-Barrio; J. Padilla; A. Miñano; V. Vicente; P. Carbonell; J. Corral; J. Esteban

doi:10.1016/j.mehy.2020.109709

When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista

F. Bauduer^*, M. E. de la Morena-Barrio, S. Salloum-Asfar, B. de la Morena-Barrio, J. Padilla, A. Miñano, V. Vicente, P. Carbonell, J. Corral, J. Esteban

^*Corresponding author for this work

QBRI - Neurological Disorders Research Center

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

The C56R mutation associated with factor XI deficiency has been first evidenced in individuals from the French Basque Country. Genetic investigations revealed that this mutation occurred about 5400 years ago as a founder effect in this zone. Other cases were subsequently described in Southwestern Europe. Noticeably a cluster of cases was evidenced in Yecla, a small city from the province of Murcia, in Southeastern Spain. In correlation with historical sources our genetic data and surname analysis argue for associating this mutation with the migration of people from Western Pyrenees (and more probably from the Navarra province) toward Southeastern Spain during the Reconquista period.

Original language	English
Article number	109709
Journal	Medical Hypotheses
Volume	141
DOIs	https://doi.org/10.1016/j.mehy.2020.109709
Publication status	Published - Aug 2020

Keywords

Basques
Factor XI deficiency
Onomastics
Population genetics
Reconquista

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Bauduer, F., de la Morena-Barrio, M. E., Salloum-Asfar, S., de la Morena-Barrio, B., Padilla, J., Miñano, A., Vicente, V., Carbonell, P., Corral, J., & Esteban, J. (2020). When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista. Medical Hypotheses, 141, Article 109709. https://doi.org/10.1016/j.mehy.2020.109709

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title = "When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista",

abstract = "The C56R mutation associated with factor XI deficiency has been first evidenced in individuals from the French Basque Country. Genetic investigations revealed that this mutation occurred about 5400 years ago as a founder effect in this zone. Other cases were subsequently described in Southwestern Europe. Noticeably a cluster of cases was evidenced in Yecla, a small city from the province of Murcia, in Southeastern Spain. In correlation with historical sources our genetic data and surname analysis argue for associating this mutation with the migration of people from Western Pyrenees (and more probably from the Navarra province) toward Southeastern Spain during the Reconquista period.",

keywords = "Basques, Factor XI deficiency, Onomastics, Population genetics, Reconquista",

author = "F. Bauduer and {de la Morena-Barrio}, {M. E.} and S. Salloum-Asfar and {de la Morena-Barrio}, B. and J. Padilla and A. Mi{\~n}ano and V. Vicente and P. Carbonell and J. Corral and J. Esteban",

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doi = "10.1016/j.mehy.2020.109709",

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Bauduer, F, de la Morena-Barrio, ME, Salloum-Asfar, S, de la Morena-Barrio, B, Padilla, J, Miñano, A, Vicente, V, Carbonell, P, Corral, J & Esteban, J 2020, 'When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista', Medical Hypotheses, vol. 141, 109709. https://doi.org/10.1016/j.mehy.2020.109709

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T2 - The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista

AU - Bauduer, F.

AU - de la Morena-Barrio, M. E.

AU - Salloum-Asfar, S.

AU - de la Morena-Barrio, B.

AU - Padilla, J.

AU - Miñano, A.

AU - Vicente, V.

AU - Carbonell, P.

AU - Corral, J.

AU - Esteban, J.

PY - 2020/8

Y1 - 2020/8

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AB - The C56R mutation associated with factor XI deficiency has been first evidenced in individuals from the French Basque Country. Genetic investigations revealed that this mutation occurred about 5400 years ago as a founder effect in this zone. Other cases were subsequently described in Southwestern Europe. Noticeably a cluster of cases was evidenced in Yecla, a small city from the province of Murcia, in Southeastern Spain. In correlation with historical sources our genetic data and surname analysis argue for associating this mutation with the migration of people from Western Pyrenees (and more probably from the Navarra province) toward Southeastern Spain during the Reconquista period.

KW - Basques

KW - Factor XI deficiency

KW - Onomastics

KW - Population genetics

KW - Reconquista

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AN - SCOPUS:85082769475

SN - 0306-9877

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JO - Medical Hypotheses

JF - Medical Hypotheses

M1 - 109709

ER -

When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista

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