Comparative genomics of amino acid tandem repeats

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Mularoni, Loris. Comparative genomics of amino acid tandem repeats. 2009
http://hdl.handle.net/10230/12005
dc.contributor.author Mularoni, Loris
dc.contributor.other Albà Soler, Mar
dc.contributor.other Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
dc.date.accessioned 2013-07-12T01:50:26Z
dc.date.available 2013-07-12T01:50:26Z
dc.date.issued 2009-07-28
dc.identifier.uri http://hdl.handle.net/10230/12005
dc.description.abstract Tandem amino acid repeats, also known as homopolimeric tract or homopeptides, are very common features of eukaryotic genomes and are present in nearly one-fifth of human encoded proteins. These structures have attracted much interest in the early 1990s when a number of neurological diseases associated with repeat expansion mutations were discovered in humans. Despite their abundance in coding proteins, little is known about their functional consequences. Two scenarios have been proposed. In one, tandem amino acid repeat is considered a neutral structure generated by slippage event and eventually tolerated in protein as long as it does not disrupt the protein function. However, an increasing number of studies proposed that tandem amino acid repeats may be involved in important functional or structural roles. For instance, tandem amino acid repeats had been found to be especially abundant in transcription factors and developmental proteins, where they can potentially modulate protein-protein interaction, exert an effect on gene transcriptional activity, or act as spacer between different protein domains. In addition, several studies have linked changes in repeat size to modification in developmental processes. Despite the advancement made in the last decade, little is known about the selective forces that shape their evolution. The aim of this thesis has been to gain further insight onto the evolutionary dynamics of tandem amino acid repeats by studying the different types of mutations that occur in the amino acid component of the human proteome, by studying the relationship between variability and abundance of amino acid tandem with the evolutionary constraints operating on the proteins, and by studying their conservation and distribution across various vertebrate genomes in both coding and non-coding sequences. The integration of these approaches enabled us to outline an evolutionary model of these structures.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Universitat Pompeu Fabra
dc.rights info:eu-repo/semantics/openAccess
dc.rights ADVERTIMENT. 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.
dc.title Comparative genomics of amino acid tandem repeats
dc.date.modified 2013-07-10T11:22:40Z
dc.subject.keyword repeat size variability
dc.subject.keyword vertebrate evolution
dc.subject.keyword gene evolutionary rate
dc.subject.keyword nucleotide triplet slippage
dc.subject.keyword amino acid tandem repeat
dc.subject.keyword variabilitat en la longitud de les repeticions
dc.subject.keyword evolució de vertebrats
dc.subject.keyword tassa evolutiva gènica
dc.subject.keyword slippage de triplets de nucleòtids
dc.subject.keyword repetició en tàndem d'aminoàcids
dc.subject.keyword 575

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http://hdl.handle.net/10803/7187

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