Cited by 171Pleistocene-Era Hominins and ArchaeologyGenomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Evolution of genetic and genomic features unique to the human lineage

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O'Bleness, Majesta, Searles, Veronica B., Varki, Ajit, Gagneux, Pascal, Sikela, James M.·2012·Nature Reviews Genetics

Abstract

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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  1. [100]Ohno S Evolution by gene duplication Springer-Verlag 1970 A classic text that provides some of the first arguments making the case that gene duplication is a major mechanism underlying genome evolution

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Authors
O'Bleness, M., Searles, V. B., Varki, A., Gagneux, P., & Sikela, J. M.
Affiliations
  • University of Colorado Anschutz (US)
  • University of California San Diego (US)
  • Center for Academic Research and Training in Anthropogeny (US)
Corresponding author
Sikela, James M.
Venue
Nature Reviews Genetics
Published
2012-11-16
Volume
13
Issue
12
Pages
853-866
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
OpenAlex
W2008252053
Cited by
168
References
132
Citations by year
2026: 4 · 2025: 8 · 2024: 18 · 2023: 16 · 2022: 6 · 2021: 14 · 2020: 7 · 2019: 8 · 2018: 10 · 2017: 12 · 2016: 13 · 2015: 18 · 2014: 19 · 2013: 13 · 2012: 2
FWCI
19.38
Type
journal article
Language
en
Open access
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • G. Harold and Leila Y. Mathers Foundation
  • National Institutes of Health
  • National Institute of General Medical Sciences (R01GM095882)
Topics
  • Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
Keywords
human evolution, primate genomics, human lineage, adaptive evolution, disease-associated loci, genome completeness, comparative genomics
MeSH terms
Animals, Chromosomes, Human, Humans, Karyotyping, Phenotype, Primates, Species Specificity, Hominidae, Genome, Human, Evolution, Molecular, Genomics, Genetic Speciation, Comparative Genomic Hybridization

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