| Evolution of genetic and genomic features unique to the human lineage. | |
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MedLine Citation:
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PMID: 23154808 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Given the unprecedented tools that are now available for rapidly comparing genomes, the identification and study of genetic and genomic changes that are unique to our species have accelerated, and we are entering a golden age of human evolutionary genomics. Here we provide an overview of these efforts, highlighting important recent discoveries, examples of the different types of human-specific genomic and genetic changes identified, and salient trends, such as the localization of evolutionary adaptive changes to complex loci that are highly enriched for disease associations. Finally, we discuss the remaining challenges, such as the incomplete nature of current genome sequence assemblies and difficulties in linking human-specific genomic changes to human-specific phenotypic traits. |
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Authors:
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Majesta O'Bleness; Veronica B Searles; Ajit Varki; Pascal Gagneux; James M Sikela |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Nature reviews. Genetics Volume: 13 ISSN: 1471-0064 ISO Abbreviation: Nat. Rev. Genet. Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-11-16 Completed Date: 2013-01-17 Revised Date: 2013-03-15 |
Medline Journal Info:
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Nlm Unique ID: 100962779 Medline TA: Nat Rev Genet Country: England |
Other Details:
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Languages: eng Pagination: 853-66 Citation Subset: IM |
Affiliation:
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Department of Biochemistry and Molecular Genetics, Human Medical Genetics and Neuroscience Programs, University of Colorado School of Medicine, Aurora, Colorado 80045, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Chromosomes, Human / genetics Comparative Genomic Hybridization Evolution, Molecular* Genetic Speciation Genome, Human* Genomics / trends Hominidae / genetics Humans Karyotyping Phenotype Primates / genetics Species Specificity |
| Grant Support | |
ID/Acronym/Agency:
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R01 GM095882/GM/NIGMS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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