Inferring recent human population history from a Y chromosome perspective

The Y chromosome is the longest non-recombining DNA sequence of the human genome. This avoidance of recombination, together with its paternal inheritance, makes the Y chromosome a powerful tool with which to study population history, male genealogy, forensics and medical genetics. Besides the progre...

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Detalles Bibliográficos
Autor: Solé Morata, Neus
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/543846
Acceso en línea:http://hdl.handle.net/10803/543846
Access Level:acceso abierto
Palabra clave:Y-chromosome
Population genetics
STR
SNP
Surnames
North Africa
Evolution
TMRCA
575
Descripción
Sumario:The Y chromosome is the longest non-recombining DNA sequence of the human genome. This avoidance of recombination, together with its paternal inheritance, makes the Y chromosome a powerful tool with which to study population history, male genealogy, forensics and medical genetics. Besides the progress made in the field during the last two decades, the recent advent of massive parallel sequencing (MPS) has yielded the discovery of thousands of new variants that have allowed to build a more reliable phylogeny and to obtain direct estimates of its mutation rate. In the present thesis, I analyse the Y-chromosome diversity from two different perspectives and with different purposes. First, by targeting specific SNPs and STRs in ~ 2,500 men bearing one of the selected 50 Catalan surnames, we investigated the driving forces behind the origin, systematization, and diffusion of surnames. And then, by using whole Y-chromosome sequences from North African individuals belonging to the most frequent lineage in the area (E-M183), we have been able to refine the phylogeography of this lineage and to shed light on the controversial dates for its origin and spread.