Population genetics of Copy Number Variants: the case of the Romani population
Much information has been gathered for the Romani population so far, spanning historical, linguistics and genetics research. While whole genome analyses for this population started only recently, most studies using genetic data so far only relied on single nucleotide polymorphisms (SNPs). In this wo...
| Author: | |
|---|---|
| Format: | doctoral thesis |
| Status: | Published version |
| Publication Date: | 2023 |
| Country: | España |
| Institution: | CBUC, CESCA |
| Repository: | TDR. Tesis Doctorales en Red |
| OAI Identifier: | oai:www.tdx.cat:10803/687993 |
| Online Access: | http://hdl.handle.net/10803/687993 |
| Access Level: | Open access |
| Keyword: | Human population genetics Human evolution Copy number variants Underrepresented populations Romani population Genética de población humana Evolución humana Variantes de número de copias Poblaciones subrepresentadas Población Romaní 575 |
| Summary: | Much information has been gathered for the Romani population so far, spanning historical, linguistics and genetics research. While whole genome analyses for this population started only recently, most studies using genetic data so far only relied on single nucleotide polymorphisms (SNPs). In this work we address, for the first time, whole genome Copy Number Variant (CNV) markers in the Romani. Using deletions, we reconstruct the relationships of Romani with related populations (Eurasian and South Asian) and highlight differentiation among them. Moreover, increased presence of deletions at Loss of Function (LoF)-intolerant genes in Romani points to a relaxation of natural selection towards putative slightly deleterious variants in the population. Finally, Romani show overrepresentation of such deletions in genes related to nervous system features and, moreover, their linkage disequilibrium with SNPs in previously reported genes of biomedical importance in Romani could suggest a contribution of CNVs and SNPs to phenotypically related outcomes. |
|---|