Distribution and evolution of short sequence tandem repeats in eukariotic genomes

• Autores: Alice Ledda
• Directores de la Tesis: María del Mar Alba Soler (dir. tes.)
• Lectura: En la Universitat Pompeu Fabra ( España ) en 2011
• Idioma: español
• Tribunal Calificador de la Tesis: Roderic Guigó Serra (presid.), Francesc Calafell Majó (presid.), Juan Antonio Subirana Torrent (voc.)
• Materias:
  • Ciencias de la vida
    • Biología humana
      • Genética humana
    • Biología molecular
    • Biología vegetal (botánica)
• Enlaces
  • Tesis en acceso abierto en:  TDX  e-Repositori UPF 
• Resumen

  • 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 interspeci c 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 di erent 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.