Analysis of human genetic variation in candidate genes under positive selections on the human linage

Natural selection has played an important role in shaping human genetic variation, thus, finding variants that have been targeted by positive selection can provide insights about which genes influence human phenotypic variability. In this work we conduct a genome-wide survey of protein-coding genes...

Descripción completa

Detalles Bibliográficos
Autor: Moreno Estrada, Andrés
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2009
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/7197
Acceso en línea:http://www.tdx.cat/TDX-0330110-123036
http://hdl.handle.net/10803/7197
Access Level:acceso abierto
Palabra clave:Human population genetics
Selecció natural
Variació
Genètica humana
Genètica de poblacions humanes
Human genetics
Variation
Natural selection
575
Descripción
Sumario:Natural selection has played an important role in shaping human genetic variation, thus, finding variants that have been targeted by positive selection can provide insights about which genes influence human phenotypic variability. In this work we conduct a genome-wide survey of protein-coding genes comparing humans, chimpanzees, and closely related species in order to detect the fraction of genes undergoing positive selection on the human lineage, and further investigate intraspecific variation in a subset of candidate genes in the search of recent selective events in worldwide human populations. Our results suggest that most of the genes implicated in selective events during early human evolution differ from those involved in recent human adaptations, implying distinct selective pressures during varying stages of human evolutionary history. We also found three genome regions with evidence of recent positive selection, which were dissected to propose targets of selection and discuss on the possible underlying selective pressures in each case.