Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor

Jinlong Huang; Yi Zhong; Alvin P. Makohon-Moore; Travis White; Maria Jasin; Mark A. Norell; Ward C. Wheeler; Christine A. Iacobuzio-Donahue

doi:10.1016/j.celrep.2022.110771

Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor

Jinlong Huang
, Yi Zhong
, Alvin P. Makohon-Moore
, Travis White
, Maria Jasin
, Mark A. Norell
, Ward C. Wheeler
, Christine A. Iacobuzio-Donahue

Center for Discovery and Innovation

Memorial Sloan-Kettering Cancer Center
American Museum of Natural History

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

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.

Original language	English
Article number	110771
Journal	Cell Reports
Volume	39
Issue number	5
DOIs	https://doi.org/10.1016/j.celrep.2022.110771
State	Published - 3 May 2022

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

BRCA2
CHLCA
CP: Cancer
DSS1
RAD51
cancer
chimpanzee
driver gene
fertility
human evolution
primate

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10.1016/j.celrep.2022.110771

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title = "Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor",

abstract = "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.",

keywords = "BRCA2, CHLCA, CP: Cancer, DSS1, RAD51, cancer, chimpanzee, driver gene, fertility, human evolution, primate",

author = "Jinlong Huang and Yi Zhong and Makohon-Moore, \{Alvin P.\} and Travis White and Maria Jasin and Norell, \{Mark A.\} and Wheeler, \{Ward C.\} and Iacobuzio-Donahue, \{Christine A.\}",

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doi = "10.1016/j.celrep.2022.110771",

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T1 - Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor

AU - Huang, Jinlong

AU - Zhong, Yi

AU - Makohon-Moore, Alvin P.

AU - White, Travis

AU - Jasin, Maria

AU - Norell, Mark A.

AU - Wheeler, Ward C.

AU - Iacobuzio-Donahue, Christine A.

PY - 2022/5/3

Y1 - 2022/5/3

N2 - 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.

AB - 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.

KW - BRCA2

KW - CHLCA

KW - CP: Cancer

KW - DSS1

KW - RAD51

KW - cancer

KW - chimpanzee

KW - driver gene

KW - fertility

KW - human evolution

KW - primate

UR - https://www.scopus.com/pages/publications/85129347419

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DO - 10.1016/j.celrep.2022.110771

M3 - Article

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AN - SCOPUS:85129347419

SN - 2639-1856

VL - 39

JO - Cell Reports

JF - Cell Reports

IS - 5

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ER -

Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor

Abstract

UN SDGs

Keywords

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