Positive Selection, Relaxation, and Acceleration in the Evolution of the Human and Chimp Genome 英文参考文献.docVIP

PositiveSelection,Relaxation, andAccelerationintheEvolution oftheHumanandChimpGenome Leonardo Arbiza1,Joaqu?′nDopazo2,Herna′nDopazo1* 1 Pharmacogenomics and Comparative Genomics Unit, Centro de Investigacio′n Pr?′ncipe Felipe (CIPF), Valencia, Spain, 2 Functional Genomics Unit, Bioinformatics Department,CentrodeInvestigacio′nPr?′ncipeFelipe(CIPF),Valencia,Spain For years evolutionary biologists have been interested in searching for the genetic bases underlying humanness. Recenteffortsatalargeoracompletegenomicscalehavebeenconductedtosearchforpositivelyselectedgenesin humanandinchimp.However,recentlydevelopedmethodsallowingforamoresensitiveandcontrolledapproachin the detection of positive selection can be employed. Here, using 13,198 genes, we have deduced the sets of genes involvedinrateacceleration,positiveselection,andrelaxationofselectiveconstraintsinhuman,inchimp,andintheir ancestral lineage since the divergence from murids. Significant deviations from the strict molecular clock were observedin469humanandin651chimpgenes.Themorestringentbranch-sitetestofpositiveselectiondetected108 human and 577 chimp positively selected genes. An important proportion of the positively selected genes did not showasignificantaccelerationinrates,andsimilarly,manyoftheacceleratedgenesdidnotshowsignificantsignalsof positiveselection.Functionaldifferentiationofgenesunderrateacceleration,positiveselection,andrelaxationwas not statistically significant between human and chimp with the exception of terms related to G-protein coupled receptorsandsensoryperception.Bothofthesewereover-representedunderrelaxationinhumaninrelationtochimp. Comparingdifferencesbetweenderivedandancestrallineages,amoreconspicuouschangeintrendsseemstohave favoredpositiveselectioninthehumanlineage.Sincemostofthepositivelyselectedgenesaredifferentunderthe samefunctional categoriesbetweenthese species,we suggestthat theindividual rolesofthealternativepositively selectedgenesmaybeanimportantfactorunderlyingbiologica