Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance
Summary: The identity of most functional elements in the mammalian genome and the phenotypes they impact are unclear. Here, we perform a genome-wide comparative analysis of patterns of accelerated evolution in species with highly distinctive traits to discover candidate functional elements for clini...
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ftdoajarticles:oai:doaj.org/article:1c6eb0e6f5a745c48768ca0a0d0959f6 2023-05-15T17:53:36+02:00 Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance Elliott Ferris Lisa M. Abegglen Joshua D. Schiffman Christopher Gregg 2018-03-01T00:00:00Z https://doi.org/10.1016/j.celrep.2018.02.008 https://doaj.org/article/1c6eb0e6f5a745c48768ca0a0d0959f6 EN eng Elsevier http://www.sciencedirect.com/science/article/pii/S2211124718301761 https://doaj.org/toc/2211-1247 2211-1247 doi:10.1016/j.celrep.2018.02.008 https://doaj.org/article/1c6eb0e6f5a745c48768ca0a0d0959f6 Cell Reports, Vol 22, Iss 10, Pp 2742-2755 (2018) Biology (General) QH301-705.5 article 2018 ftdoajarticles https://doi.org/10.1016/j.celrep.2018.02.008 2022-12-31T10:45:11Z Summary: The identity of most functional elements in the mammalian genome and the phenotypes they impact are unclear. Here, we perform a genome-wide comparative analysis of patterns of accelerated evolution in species with highly distinctive traits to discover candidate functional elements for clinically important phenotypes. We identify accelerated regions (ARs) in the elephant, hibernating bat, orca, dolphin, naked mole rat, and thirteen-lined ground squirrel lineages in mammalian conserved regions, uncovering ∼33,000 elements that bind hundreds of different regulatory proteins in humans and mice. ARs in the elephant, the largest land mammal, are uniquely enriched near elephant DNA damage response genes. The genomic hotspot for elephant ARs is the E3 ligase subunit of the Fanconi anemia complex, a master regulator of DNA repair. Additionally, ARs in the six species are associated with specific human clinical phenotypes that have apparent concordance with overt traits in each species. : Ferris et al. report an analysis of accelerated evolution in the elephant, little brown bat, big brown bat, orca, dolphin, naked mole rate, and thirteen-lined ground squirrel that reveals candidate functional genomic elements for shaping somatic mutation rate, cancer risk, digit development, immunity, glaucoma, pigmentation, and other clinical phenotypes. Keywords: accelerated evolution, epigenetics, enhancer, phylogenomics, Peto’s paradox, somatic mutation, elephant, naked mole rat, regulatory element, cancer Article in Journal/Newspaper Orca Directory of Open Access Journals: DOAJ Articles Ferris ENVELOPE(76.094,76.094,-69.405,-69.405) Cell Reports 22 10 2742 2755 |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
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English |
topic |
Biology (General) QH301-705.5 |
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Biology (General) QH301-705.5 Elliott Ferris Lisa M. Abegglen Joshua D. Schiffman Christopher Gregg Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance |
topic_facet |
Biology (General) QH301-705.5 |
description |
Summary: The identity of most functional elements in the mammalian genome and the phenotypes they impact are unclear. Here, we perform a genome-wide comparative analysis of patterns of accelerated evolution in species with highly distinctive traits to discover candidate functional elements for clinically important phenotypes. We identify accelerated regions (ARs) in the elephant, hibernating bat, orca, dolphin, naked mole rat, and thirteen-lined ground squirrel lineages in mammalian conserved regions, uncovering ∼33,000 elements that bind hundreds of different regulatory proteins in humans and mice. ARs in the elephant, the largest land mammal, are uniquely enriched near elephant DNA damage response genes. The genomic hotspot for elephant ARs is the E3 ligase subunit of the Fanconi anemia complex, a master regulator of DNA repair. Additionally, ARs in the six species are associated with specific human clinical phenotypes that have apparent concordance with overt traits in each species. : Ferris et al. report an analysis of accelerated evolution in the elephant, little brown bat, big brown bat, orca, dolphin, naked mole rate, and thirteen-lined ground squirrel that reveals candidate functional genomic elements for shaping somatic mutation rate, cancer risk, digit development, immunity, glaucoma, pigmentation, and other clinical phenotypes. Keywords: accelerated evolution, epigenetics, enhancer, phylogenomics, Peto’s paradox, somatic mutation, elephant, naked mole rat, regulatory element, cancer |
format |
Article in Journal/Newspaper |
author |
Elliott Ferris Lisa M. Abegglen Joshua D. Schiffman Christopher Gregg |
author_facet |
Elliott Ferris Lisa M. Abegglen Joshua D. Schiffman Christopher Gregg |
author_sort |
Elliott Ferris |
title |
Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance |
title_short |
Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance |
title_full |
Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance |
title_fullStr |
Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance |
title_full_unstemmed |
Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance |
title_sort |
accelerated evolution in distinctive species reveals candidate elements for clinically relevant traits, including mutation and cancer resistance |
publisher |
Elsevier |
publishDate |
2018 |
url |
https://doi.org/10.1016/j.celrep.2018.02.008 https://doaj.org/article/1c6eb0e6f5a745c48768ca0a0d0959f6 |
long_lat |
ENVELOPE(76.094,76.094,-69.405,-69.405) |
geographic |
Ferris |
geographic_facet |
Ferris |
genre |
Orca |
genre_facet |
Orca |
op_source |
Cell Reports, Vol 22, Iss 10, Pp 2742-2755 (2018) |
op_relation |
http://www.sciencedirect.com/science/article/pii/S2211124718301761 https://doaj.org/toc/2211-1247 2211-1247 doi:10.1016/j.celrep.2018.02.008 https://doaj.org/article/1c6eb0e6f5a745c48768ca0a0d0959f6 |
op_doi |
https://doi.org/10.1016/j.celrep.2018.02.008 |
container_title |
Cell Reports |
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22 |
container_issue |
10 |
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2742 |
op_container_end_page |
2755 |
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1766161297737515008 |