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...
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| Format: | doctoral thesis |
| Status: | Published version |
| Publication Date: | 2016 |
| Country: | España |
| Institution: | CBUC, CESCA |
| Repository: | TDR. Tesis Doctorales en Red |
| OAI Identifier: | oai:www.tdx.cat:10803/383060 |
| Online Access: | http://hdl.handle.net/10803/383060 |
| Access Level: | Open access |
| Keyword: | Tandem repeats Gene expression Great apes Evolution Genetic diversity Repeticiones en tandem Expression génica Grandes simios Evolución Diversidad genética 575 |
| Summary: | 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. |
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