title: Lineage-specific gene duplication and loss in human and great ape evolution.
abstract: Given that gene duplication is a major driving force of evolutionary change and the key mechanism underlying the emergence of new genes and biological processes, this study sought to use a novel genome-wide approach to identify genes that have undergone lineage-specific duplications or contractions among several hominoid lineages. Interspecies cDNA array-based comparative genomic hybridization was used to individually compare copy number variation for 39,711 cDNAs, representing 29,619 human genes, across five hominoid species, including human. We identified 1,005 genes, either as isolated genes or in clusters positionally biased toward rearrangement-prone genomic regions, that produced relative hybridization signals unique to one or more of the hominoid lineages. Measured as a function of the evolutionary age of each lineage, genes showing copy number expansions were most pronounced in human (134) and include a number of genes thought to be involved in the structure and function of the brain. This work represents, to our knowledge, the first genome-wide gene-based survey of gene duplication across hominoid species. The genes identified here likely represent a significant majority of the major gene copy number changes that have occurred over the past 15 million years of human and great ape evolution and are likely to underlie some of the key phenotypic characteristics that distinguish these species.
authors.affiliation: Department of Pharmacology and Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.
authors.forename: Andrew
authors.initials: A
authors.lastname: Fortna
authors.forename: Young
authors.initials: Y
authors.lastname: Kim
authors.forename: Erik
authors.initials: E
authors.lastname: MacLaren
authors.forename: Kriste
authors.initials: K
authors.lastname: Marshall
authors.forename: Gretchen
authors.initials: G
authors.lastname: Hahn
authors.forename: Lynne
authors.initials: L
authors.lastname: Meltesen
authors.forename: Matthew
authors.initials: M
authors.lastname: Brenton
authors.forename: Raquel
authors.initials: R
authors.lastname: Hink
authors.forename: Sonya
authors.initials: S
authors.lastname: Burgers
authors.forename: Tina
authors.initials: T
authors.lastname: Hernandez-Boussard
authors.forename: Anis
authors.initials: A
authors.lastname: Karimpour-Fard
authors.forename: Deborah
authors.initials: D
authors.lastname: Glueck
authors.forename: Loris
authors.initials: L
authors.lastname: McGavran
authors.forename: Rebecca
authors.initials: R
authors.lastname: Berry
authors.forename: Jonathan
authors.initials: J
authors.lastname: Pollack
authors.forename: James M
authors.initials: JM
authors.lastname: Sikela
mesh_terms: D000818:Animals; D005075:Biological Evolution; D022202:Chromosomes, Artificial, Bacterial; D003001:Cloning, Molecular; D016000:Cluster Analysis; D018076:DNA, Complementary / Q000378:metabolism; D019143:Evolution, Molecular; D051523:Fibroblast Growth Factor 7 / Q000378:metabolism; D020440:Gene Duplication; D014644:Genetic Variation; D016678:Genome; D015186:Hominidae; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D008957:Models, Genetic; D008969:Molecular Sequence Data; D005810:Multigene Family; D009693:Nucleic Acid Hybridization; D002679:Pan troglodytes; D011148:Pongo pygmaeus; D011506:Proteins / Q000378:metabolism; D012091:Repetitive Sequences, Nucleic Acid; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013045:Species Specificity
chemical_list: D018076:DNA, Complementary; C496453:FGF7 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C407225:SPRY3 protein, human; D051523:Fibroblast Growth Factor 7