Tesis doctoral de Alice Ledda
Microsatellites are dna sequences formed by tandem repetition of short motifs. Short sequence tandem repeats are ubiquitous in eukaryotic genomes both in coding and non-coding regions. They show a very high level of polymophism and interspecic divergence. we investigated the use of next generation sequencing data, from the 1000 genomes pilot prjects, to quantify microsatellite variability in the human population and discover putative new loci involved in trinucleotide repeat expansion diseases. we analysed microsatellites phylogenetic conservation to learn about the role of selection in shaping microsatellite evolution. The rst study concluded that in vertebrate lineages amino acid tandem repeats were more conserved than similar sequences located in noncoding regions. This lead us to the conclusion that evolution was preserving repeats in protein-coding regions. In a second stage we analzed the conservation of microsatellites in dierent genomic regions, comparing them with the conservation of microsatellite in intergenic region. We concluded that selection was not preserving microsatellites only in exons but also in other genomic regions.
Datos académicos de la tesis doctoral «Distribution and evolution of short sequence tandem repeats in eukaryotic genomes«
- Título de la tesis: Distribution and evolution of short sequence tandem repeats in eukaryotic genomes
- Autor: Alice Ledda
- Universidad: Pompeu fabra
- Fecha de lectura de la tesis: 06/04/2011
Dirección y tribunal
- Director de la tesis
- María Del Mar Alba Soler
- Tribunal
- Presidente del tribunal: roderic Guigo serra
- Juan Antonio Subirana torrent (vocal)
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