Comparative Genomics and Human Evolution: An evolutionary approach to biomedical problems

HERNÁN DOPAZO

Hinxton - Cambridge, UK

Conferencia; Talks of the European Bioinformatics Institute (EBI).; 2007

EBI-Sanger Institute

Title: Comparative Genomics and Human Evolution: An evolutionary approach to biomedical problems. Abstract: Adaptive evolution of genes and genomes is ultimately responsible for adaptation in morphology, behaviour and physiology and for species divergence and evolutionary innovations. While natural selection appears to be ubiquitous in shaping morphological and behavioral evolution, its role in evolution of genes and genomes is more controversial. The talk will present recent results on the study of natural selection at genome level in human and chimpanzee. Special references to the abundant signal of relaxation of selective constraints, rate acceleration and positive selection will be discused. Furthermore we discuss how evolutionary constraints at the protein codon level helps to deduce mutations associated to human diseases. The application of this evolutionary prediction at a genomic scale will provide an a priori hypothesis of the phenotypic effect of non-synonymous coding single nucleotide polymorphisms (SNPs) in the human genome. Finally we discuss different conclusions regarding positive selection on brain-specific genes along the evolutionary lineage leading to modern humans. Reviewing this issue we find that estimates of average dN/dS ratios are sensitive to the methods used for combining estimates and the methods used for positive selection detection.