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      Insights into hominid evolution from the gorilla genome sequence

      research-article
      1 , 2 , 3 , 4 , 1 , 4 , 2 , 5 , 2 , 3 , 6 , 7 , 1 , 8 , 4 , 1 , 9 , 10 , 1 , 1 , 3 , 11 , 2 , 1 , 12 , 4 , 8 , 13 , 1 , 1 , 4 , 14 , 1 , 1 , 15 , 3 , 1 , 1 , 16 , 15 , 12 , 17 , 2 , 8 , 12 , 6 , 1 , 3 , 9 , 10 , 12 , 1 , 12 , 1 , 18 , 4 , 1 , 19 , 12 , 19 , 5 , 3 , 11 , 4 , 4 , 8 , 1 , 1 , 9 , 10 , 15 , 1 , 20 , 1 , 14 , 14 , 2 , 1 , 1 , 1
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          Summary

          Gorillas are humans’ closest living relatives after chimpanzees, and are of comparable importance for the study of human origins and evolution. Here we present the assembly and analysis of a genome sequence for the western lowland gorilla, and compare the whole genomes of all extant great ape genera. We propose a synthesis of genetic and fossil evidence consistent with placing the human-chimpanzee and human-chimpanzee-gorilla speciation events at approximately 6 and 10 million years ago (Mya). In 30% of the genome, gorilla is closer to human or chimpanzee than the latter are to each other; this is rarer around coding genes, indicating pervasive selection throughout great ape evolution, and has functional consequences in gene expression. A comparison of protein coding genes reveals approximately 500 genes showing accelerated evolution on each of the gorilla, human and chimpanzee lineages, and evidence for parallel acceleration, particularly of genes involved in hearing. We also compare the western and eastern gorilla species, estimating an average sequence divergence time 1.75 million years ago, but with evidence for more recent genetic exchange and a population bottleneck in the eastern species. The use of the genome sequence in these and future analyses will promote a deeper understanding of great ape biology and evolution.

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          Most cited references45

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          Evolutionary and biomedical insights from the rhesus macaque genome.

          The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and physiologically similar to humans, rhesus monkeys are the most widely used nonhuman primate in basic and applied biomedical research. We determined the genome sequence of an Indian-origin Macaca mulatta female and compared the data with chimpanzees and humans to reveal the structure of ancestral primate genomes and to identify evidence for positive selection and lineage-specific expansions and contractions of gene families. A comparison of sequences from individual animals was used to investigate their underlying genetic diversity. The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species.
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            Ensembl 2009

            The Ensembl project (http://www.ensembl.org) is a comprehensive genome information system featuring an integrated set of genome annotation, databases, and other information for chordate, selected model organism and disease vector genomes. As of release 51 (November 2008), Ensembl fully supports 45 species, and three additional species have preliminary support. New species in the past year include orangutan and six additional low coverage mammalian genomes. Major additions and improvements to Ensembl since our previous report include a major redesign of our website; generation of multiple genome alignments and ancestral sequences using the new Enredo-Pecan-Ortheus pipeline and development of our software infrastructure, particularly to support the Ensembl Genomes project (http://www.ensemblgenomes.org/).
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              Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

              We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate recombination sites precisely, identify 70% of the sequencing errors (resulting in > 99.999% accuracy), and identify very rare single-nucleotide polymorphisms. We also directly estimated a human intergeneration mutation rate of approximately 1.1 x 10(-8) per position per haploid genome. Both offspring in this family have two recessive disorders: Miller syndrome, for which the gene was concurrently identified, and primary ciliary dyskinesia, for which causative genes have been previously identified. Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four. Our results demonstrate the value of complete genome sequencing in families.
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                Author and article information

                Journal
                0410462
                6011
                Nature
                Nature
                Nature
                0028-0836
                1476-4687
                24 January 2012
                07 March 2012
                08 September 2012
                : 483
                : 7388
                : 169-175
                Affiliations
                [1 ]Wellcome Trust Sanger Insitute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
                [2 ]Bioinformatics Research Center, Aarhus University, C.F. Møllers Allé 8, 8000 Aarhus C, Denmark
                [3 ]Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
                [4 ]European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SD, UK
                [5 ]Department of Genetic Medicine and Development, University of Geneva Medical School, Rue Michel-Servet 1, 1211 Geneva 4, Switzerland
                [6 ]Institut de Biologia Evolutiva (UPF-CSIC), 08003 Barcelona, Catalonia, Spain
                [7 ]Institucio Catalana de Recerca i Estudis Avançats, ICREA, 08010 Barcelona, Spain
                [8 ]Department of Zoology, University of Cambridge, Downing St, Cambridge, CB2 3EJ, UK
                [9 ]University of Cambridge, Department of Oncology, Hutchison/MRC Research Centre, Hills Road, Cambridge CB2 0XZ, UK
                [10 ]Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK
                [11 ]Howard Hughes Medical Institute, University of Washington, Seattle, Washington, 20815-6789, USA
                [12 ]Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
                [13 ]Department of Anthropology, Yale University, 10 Sachem Street, New Haven, Connecticut 06511, USA
                [14 ]The Genome Institute at Washington University, Washington University School of Medicine, Saint Louis, Missouri 63108, USA
                [15 ]MRC Functional Genomics Unit, University of Oxford, Department of Physiology, Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
                [16 ]Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
                [17 ]Comparative Genomics Unit, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892-2152, USA
                [18 ]Max Planck Institute for Evolutionary Anthropology, Primatology Department, Deutscher Platz 6, Leipzig 04103, Germany
                [19 ]Children’s Hospital Oakland Research Institute, Oakland, California 94609, USA
                [20 ]San Diego Zoo’s Institute for Conservation Research, Escondido, California 92027, USA
                Author notes
                Current Affiliations
                [a]

                Institut des Sciences de l’Évolution - Montpellier (I.S.E.-M.), Université de Montpellier II - CC 064, 34095 MONTPELLIER Cedex 05, France

                [b]

                Centre for Genomic Research, Institute of Integrative Biology, University of Liverpool, Crown Street Liverpool, L69 7ZB UK

                [c]

                Division of Biological Anthropology, University of Cambridge, Fitzwilliam Street, Cambridge, CB2 1QH, UK

                [d]

                EASIH, University of Cambridge, Addenbrooke’s Hospital, Cambridge, CB2 0QQ, UK

                [e]

                Oxford Nanopore Technologies, Edmund Cartwright House, 4 Robert Robinson Avenue, Oxford, OX4 4GA, UK

                [f]

                Institute of Microbiology, Chinese Academy of Sciences, Datun Rd, Chaoyang District, Beijing 100101, P. R. China

                [g]

                The Genome Analysis Centre, Norwich Research Park, Norwich, NR4 7UH, UK

                Article
                UKMS40463
                10.1038/nature10842
                3303130
                22398555
                eef3402f-02ea-4653-91ff-922f8373681d

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                History
                Funding
                Funded by: Wellcome Trust :
                Award ID: 089066 || WT
                Funded by: Wellcome Trust :
                Award ID: 077198 || WT
                Funded by: Wellcome Trust :
                Award ID: 077192 || WT
                Funded by: Wellcome Trust :
                Award ID: 077009 || WT
                Funded by: Wellcome Trust :
                Award ID: 062023 || WT
                Funded by: Wellcome Trust :
                Award ID: 062023 || WT
                Funded by: Wellcome Trust :
                Award ID: 062023 || WT
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