showing 5 related works from this author
Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean
2008
10 páginas, 1 figura, 4 páginas.-- et al.
La genètica de les migracions humanes: Seguint el rastre de les migracions a través del nostre genoma
2014
La reconstruccio de les migracions humanes es possible gracies a la informacio aportada per diverses disciplines. L’estudi de la diversitat genetica de les poblacions humanes actuals ens revela quins han estat els esdeveniments demografics i moviments migratoris passats que han deixat una empremta en el nostre genoma. El coneixement dels moviments migratoris en temps prehistorics ens permet comprovar hipotesis proposades des d’altres disciplines cientifiques. De la mateixa manera, la distribucio de la diversitat genetica en el futur dependra, en gran part, de les intenses migracions humanes actuals facilitades pels avencos tecnologics.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
2018
ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…
Ancient human genomes suggest three ancestral populations for present-day Europeans
2014
We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes1,2,3,4 with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians3, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these popula…
The genetics of human migration: Tracing migrations through the genome
2015
Various academic disciplines shed light on human migrations, helping us to reconstruct the past. Studying the genetic diversity of human populations today reveals past demographic and migratory events that have left an imprint on our genome. Armed with knowledge of migrations in prehistoric times, we can test hypotheses put forward in other scientific disciplines. Similarly, the distribution of genetic diversity in the future will largely depend on today’s extensive human migrations, facilitated by technological advances.