Tomorrow 6th of May, Alice Ledda, member of Computational Genomics Group of GRIB (IMIM/UPF) will defence her thesis at 11: 00 at room Josep Marull, Dr. Aiguader 80.
Summary
We investigated the use of next generation sequencing data, from the 1000 Genomes Pilot Projects, 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 first study concluded that in vertebrate lineages amino acid tandem repeats were more conserved than similar sequences located in non-coding 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 different 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.