title: Origins of De Novo Genes in Human and Chimpanzee.
abstract: The birth of new genes is an important motor of evolutionary innovation. Whereas many new genes arise by gene duplication, others originate at genomic regions that did not contain any genes or gene copies. Some of these newly expressed genes may acquire coding or non-coding functions and be preserved by natural selection. However, it is yet unclear which is the prevalence and underlying mechanisms of de novo gene emergence. In order to obtain a comprehensive view of this process, we have performed in-depth sequencing of the transcriptomes of four mammalian species--human, chimpanzee, macaque, and mouse--and subsequently compared the assembled transcripts and the corresponding syntenic genomic regions. This has resulted in the identification of over five thousand new multiexonic transcriptional events in human and/or chimpanzee that are not observed in the rest of species. Using comparative genomics, we show that the expression of these transcripts is associated with the gain of regulatory motifs upstream of the transcription start site (TSS) and of U1 snRNP sites downstream of the TSS. In general, these transcripts show little evidence of purifying selection, suggesting that many of them are not functional. However, we find signatures of selection in a subset of de novo genes which have evidence of protein translation. Taken together, the data support a model in which frequently-occurring new transcriptional events in the genome provide the raw material for the evolution of new proteins.
authors.affiliation: Evolutionary Genomics Group, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.
authors.forename: Jorge
authors.initials: J
authors.lastname: Ruiz-Orera
authors.affiliation: Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain.
authors.forename: Jessica
authors.initials: J
authors.lastname: Hernandez-Rodriguez
authors.affiliation: Proteomics Unit, Universitat Pompeu Fabra (UPF), Barcelona, Spain.|Proteomics Unit, Centre de Regulació Genòmica (CRG), Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Chiva
authors.affiliation: Proteomics Unit, Universitat Pompeu Fabra (UPF), Barcelona, Spain.|Proteomics Unit, Centre de Regulació Genòmica (CRG), Barcelona, Spain.
authors.forename: Eduard
authors.initials: E
authors.lastname: Sabidó
authors.affiliation: Biomedical Primate Research Center (BPRC), Rijswijk, The Netherlands.
authors.forename: Ivanela
authors.initials: I
authors.lastname: Kondova
authors.affiliation: Biomedical Primate Research Center (BPRC), Rijswijk, The Netherlands.
authors.forename: Ronald
authors.initials: R
authors.lastname: Bontrop
authors.affiliation: Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain.|Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.|Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
authors.forename: Tomàs
authors.initials: T
authors.lastname: Marqués-Bonet
authors.affiliation: Evolutionary Genomics Group, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.|Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain.|Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
authors.forename: M Mar
authors.initials: MM
authors.lastname: Albà
mesh_terms: D000818:Animals; D001483:Base Sequence; D019143:Evolution, Molecular; D005260:Female; D015870:Gene Expression; D005796:Genes; D015894:Genome, Human; D006801:Humans; D008251:Macaca / Q000235:genetics; D008297:Male; D051379:Mice; D002679:Pan troglodytes / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid; D017412:Ribonucleoprotein, U1 Small Nuclear / Q000235:genetics*; D013737:Testis / Q000502:physiology; D024363:Transcription Initiation Site
chemical_list: D017412:Ribonucleoprotein, U1 Small Nuclear