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Tytuł:
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Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor.
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Autorzy:
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Huang J; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Zhong Y; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Makohon-Moore AP; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
White T; Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Jasin M; Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Norell MA; Division of Paleontology, American Museum of Natural History, New York, NY 10024, USA.
Wheeler WC; Division of Invertebrate Zoology, American Museum of Natural History, New York, NY 10024, USA.
Iacobuzio-Donahue CA; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA. Electronic address: .
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Źródło:
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Cell reports [Cell Rep] 2022 May 03; Vol. 39 (5), pp. 110771.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Original Publication: [Cambridge, MA] : Cell Press, c 2012-
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MeSH Terms:
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Pan troglodytes*/genetics
Primates*
Animals ; BRCA2 Protein/genetics ; Evolution, Molecular ; Humans ; Mutation/genetics ; Proteins/metabolism
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Grant Information:
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R35 CA220508 United States CA NCI NIH HHS; P30 CA008748 United States CA NCI NIH HHS; R01 CA179991 United States CA NCI NIH HHS
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Contributed Indexing:
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Keywords: BRCA2; CHLCA; CP: Cancer; DSS1; RAD51; cancer; chimpanzee; driver gene; fertility; human evolution; primate
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Substance Nomenclature:
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0 (BRCA2 Protein)
0 (BRCA2 protein, human)
0 (Proteins)
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Entry Date(s):
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Date Created: 20220504 Date Completed: 20220506 Latest Revision: 20230522
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Update Code:
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20240104
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DOI:
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10.1016/j.celrep.2022.110771
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PMID:
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35508134
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We performed a comparative analysis of human and 12 non-human primates to identify sequence variations in known cancer genes. We identified 395 human-specific fixed non-silent substitutions that emerged during evolution of human. Using bioinformatics analyses for functional consequences, we identified a number of substitutions that are predicted to alter protein function; one of these mutations is located at the most evolutionarily conserved domain of human BRCA2.
Competing Interests: Declaration of interests The authors declare no competing interests. C.A.I.-D. receives research support from Bristol Myers Squibb.
(Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)
