Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

Genetic variation in humans and the great apes has been amply explored using a wide variety of markers, among them tandem repeats (TRs). Because of the nature of TRs, highly variable in length due to its high mutation rate, they are an important source of genetic variation, and thus especially infor...

Descripción completa

Detalles Bibliográficos
Autor: Carvalho, Tiago Loureiro de
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2016
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/383060
Acceso en línea:http://hdl.handle.net/10803/383060
Access Level:acceso abierto
Palabra clave:Tandem repeats
Gene expression
Great apes
Evolution
Genetic diversity
Repeticiones en tandem
Expression génica
Grandes simios
Evolución
Diversidad genética
575
Descripción
Sumario:Genetic variation in humans and the great apes has been amply explored using a wide variety of markers, among them tandem repeats (TRs). Because of the nature of TRs, highly variable in length due to its high mutation rate, they are an important source of genetic variation, and thus especially informative in fields such as population and conservation genetics. Particularly, they are still often used to illuminate natural populations complex evolutionary histories and structure. TR variation is also associated with several pathological conditions, and hypothesized to have an important role in the evolution of gene regulation. In this work a recently developed TR genotyping algorithm was applied on human and nonhuman great apes whole-genome sequencing data. The analysis of the TR variation indicate that this information is useful to describe fine scale population variation, and hints at a substantial contribution of TRs to gene expression divergence during great apes evolution.