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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Detalhes bibliográficos
Autor: Carvalho, Tiago Loureiro de
Tipo de documento: tese
Estado:Versão publicada
Data de publicação:2016
País:España
Recursos:CBUC, CESCA
Repositório:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/383060
Acesso em linha:http://hdl.handle.net/10803/383060
Access Level:Acceso aberto
Palavra-chave:Tandem repeats
Gene expression
Great apes
Evolution
Genetic diversity
Repeticiones en tandem
Expression génica
Grandes simios
Evolución
Diversidad genética
575
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spelling Tandem repeat variation in human and great ape populations and its impact on gene expression divergenceCarvalho, Tiago Loureiro deTandem repeatsGene expressionGreat apesEvolutionGenetic diversityRepeticiones en tandemExpression génicaGrandes simiosEvoluciónDiversidad genética575Genetic 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.La variación genética en los seres humanos y grandes simios ha sido ampliamente explorada usando una gran variedad de marcadores, entre ellos repeticiones en tándem (RT). Debido a la naturaleza de las RT, muy variables en longitud debido a su alta tasa de mutación, estas constituyen una importante fuente de variación genética, y por lo tanto altamente informativas en áreas como la genética de poblaciones y de la conservación. En particular, a menudo aún se utilizan para elucidar las complejas historias evolutivas de las poblaciones naturales y su estructura genética. La variación de RT está también asociada con varias enfermedads, y se cree que desempeña un papel importante en la evolución de la regulación génica. En este trabajo un algoritmo desarrollado recientemente que genotipa RT a nivel de todo el genoma, se aplicó sobre datos de secuenciación de genomas humanos y de grandes simios. El análisis de la variació de RT sugiere que esta información es útil para describir la variación en poblaciones, y alude a una aportación sustancial de las RT a la divergencia de expresión génica durante la evolución de los grandes simios.Programa de doctorat en BiomedicinaUniversitat Pompeu FabraMarquès i Bonet, TomàsUniversitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut201620162016info:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/publishedVersion77 p.application/pdfapplication/pdfhttp://hdl.handle.net/10803/383060TDX (Tesis Doctorals en Xarxa)reponame:TDR. Tesis Doctorales en Redinstname:CBUC, CESCAInglésADVERTIMENT. L'accés als continguts d'aquesta tesi doctoral i la seva utilització ha de respectar els drets de la persona autora. Pot ser utilitzada per a consulta o estudi personal, així com en activitats o materials d'investigació i docència en els termes establerts a l'art. 32 del Text Refós de la Llei de Propietat Intel·lectual (RDL 1/1996). Per altres utilitzacions es requereix l'autorització prèvia i expressa de la persona autora. En qualsevol cas, en la utilització dels seus continguts caldrà indicar de forma clara el nom i cognoms de la persona autora i el títol de la tesi doctoral. No s'autoritza la seva reproducció o altres formes d'explotació efectuades amb finalitats de lucre ni la seva comunicació pública des d'un lloc aliè al servei TDX. Tampoc s'autoritza la presentació del seu contingut en una finestra o marc aliè a TDX (framing). Aquesta reserva de drets afecta tant als continguts de la tesi com als seus resums i índexs.info:eu-repo/semantics/openAccessoai:www.tdx.cat:10803/3830602026-06-14T12:46:07Z
dc.title.none.fl_str_mv Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
title Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
spellingShingle Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
Carvalho, Tiago Loureiro de
Tandem repeats
Gene expression
Great apes
Evolution
Genetic diversity
Repeticiones en tandem
Expression génica
Grandes simios
Evolución
Diversidad genética
575
title_short Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
title_full Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
title_fullStr Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
title_full_unstemmed Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
title_sort Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
dc.creator.none.fl_str_mv Carvalho, Tiago Loureiro de
author Carvalho, Tiago Loureiro de
author_facet Carvalho, Tiago Loureiro de
author_role author
dc.contributor.none.fl_str_mv Marquès i Bonet, Tomàs
Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
dc.subject.none.fl_str_mv Tandem repeats
Gene expression
Great apes
Evolution
Genetic diversity
Repeticiones en tandem
Expression génica
Grandes simios
Evolución
Diversidad genética
575
topic Tandem repeats
Gene expression
Great apes
Evolution
Genetic diversity
Repeticiones en tandem
Expression génica
Grandes simios
Evolución
Diversidad genética
575
description 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.
publishDate 2016
dc.date.none.fl_str_mv 2016
2016
2016
dc.type.none.fl_str_mv info:eu-repo/semantics/doctoralThesis
info:eu-repo/semantics/publishedVersion
format doctoralThesis
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10803/383060
url http://hdl.handle.net/10803/383060
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 77 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Universitat Pompeu Fabra
publisher.none.fl_str_mv Universitat Pompeu Fabra
dc.source.none.fl_str_mv TDX (Tesis Doctorals en Xarxa)
reponame:TDR. Tesis Doctorales en Red
instname:CBUC, CESCA
instname_str CBUC, CESCA
reponame_str TDR. Tesis Doctorales en Red
collection TDR. Tesis Doctorales en Red
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.228081

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