Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

Siobhán Q. Gregg; Andria Rasile Robinson; Laura J. Niedernhofer

doi:10.1016/j.dnarep.2011.04.026

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

Siobhán Q. Gregg, Andria Rasile Robinson, Laura J. Niedernhofer

Research output: Contribution to journal › Review article › peer-review

128 Scopus citations

Abstract

ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.

Original language	English (US)
Pages (from-to)	781-791
Number of pages	11
Journal	DNA Repair
Volume	10
Issue number	7
DOIs	https://doi.org/10.1016/j.dnarep.2011.04.026
State	Published - Jul 15 2011
Externally published	Yes

Bibliographical note

Funding Information:
The authors are supported by the National Institutes of Health grants ES016114 and -03S1 . L.J.N. is also supported by the University of Pittsburgh Claude D. Pepper Center ( P30AG024827 ). The authors are extremely grateful to Dr. Lehmann and colleagues for contributing unpublished information and to the reviewers for critical additions to this manuscript.

Keywords

Cancer
Endogenous damage
Genetic diseases
Knockout mice
Progeria

UN SDGs

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

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10.1016/j.dnarep.2011.04.026

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title = "Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease",

abstract = "ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.",

keywords = "Cancer, Endogenous damage, Genetic diseases, Knockout mice, Progeria",

author = "Gregg, {Siobh{\'a}n Q.} and Robinson, {Andria Rasile} and Niedernhofer, {Laura J.}",

note = "Funding Information: The authors are supported by the National Institutes of Health grants ES016114 and -03S1 . L.J.N. is also supported by the University of Pittsburgh Claude D. Pepper Center ( P30AG024827 ). The authors are extremely grateful to Dr. Lehmann and colleagues for contributing unpublished information and to the reviewers for critical additions to this manuscript.",

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doi = "10.1016/j.dnarep.2011.04.026",

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T1 - Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

AU - Gregg, Siobhán Q.

AU - Robinson, Andria Rasile

AU - Niedernhofer, Laura J.

N1 - Funding Information: The authors are supported by the National Institutes of Health grants ES016114 and -03S1 . L.J.N. is also supported by the University of Pittsburgh Claude D. Pepper Center ( P30AG024827 ). The authors are extremely grateful to Dr. Lehmann and colleagues for contributing unpublished information and to the reviewers for critical additions to this manuscript.

PY - 2011/7/15

Y1 - 2011/7/15

N2 - ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.

AB - ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.

KW - Cancer

KW - Endogenous damage

KW - Genetic diseases

KW - Knockout mice

KW - Progeria

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DO - 10.1016/j.dnarep.2011.04.026

M3 - Review article

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AN - SCOPUS:79960394750

SN - 1568-7864

VL - 10

SP - 781

EP - 791

JO - DNA Repair

JF - DNA Repair

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ER -

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

Abstract

Bibliographical note

Keywords

UN SDGs

Publisher link

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