Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Gene Review:

Ercc2 - excision repair cross-complementing rodent...

Mus musculus

Synonyms: AA407812, AU020867, AW240756, CXPD, DNA excision repair protein ERCC-2, ...

de Boer, J. et al., Andressoo, J.O. et al., Wijnhoven, S.W. et al., Auerbach, A.D. et al., Andressoo, J.O. et al.

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Ercc2

Trichothiodystrophy (TTD) patients with a mutation in the XPD gene of nucleotide excision repair (NER) have a short life span and show various features of premature aging, thereby linking DNA damage to the aging process [1].
Point mutations in the XPD gene lead either to the cancer-prone repair syndrome XP, sometimes in combination with a second repair condition; Cockayne syndrome; or the non-cancer-prone brittle-hair disorder trichothiodystrophy [2].
The xeroderma pigmentosum (XP) group D (XPD) gene encodes a DNA helicase that is a subunit of the transcription factor IIH complex, involved both in nucleotide excision repair of UV-induced DNA damage and in basal transcription initiation [2].
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria [3].

High impact information on Ercc2

To study the role of XPD in nucleotide excision repair and transcription and its implication in human disorders, we isolated the mouse XPD gene and generated a null allele via homologous recombination in embryonic stem cells by deleting XPD helicase domains IV-VI [2].
These results establish the essential function of the XPD protein in mammals and in cellular viability and are consistent with the notion that only subtle XPD mutations are found in XP, XP/Cockayne syndrome, and trichothiodystrophy patients [2].
However, when intercrossing heterozygotes, homozygous XPD mutant mice were selectively absent from the offspring [2].
More strikingly, genetic defects in the same NER pathway, and in some cases even within the same gene, XPD, can also give rise to disorders with greatly elevated cancer rates but without progeria (xeroderma pigmentosum) [4].
In this review, we will discuss the connection between genome maintenance, aging and cancer in light of a new mouse model of XPD disease [4].

Other interactions of Ercc2

Defects in the XPB, XPD, and XPG genes can result in three different syndromes, xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy, depending on the specific mutation involved [5].

References

Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. Wijnhoven, S.W., Beems, R.B., Roodbergen, M., van den Berg, J., Lohman, P.H., Diderich, K., van der Horst, G.T., Vijg, J., Hoeijmakers, J.H., van Steeg, H. DNA Repair (Amst.) (2005) [Pubmed]
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. de Boer, J., Donker, I., de Wit, J., Hoeijmakers, J.H., Weeda, G. Cancer Res. (1998) [Pubmed]
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Andressoo, J.O., Mitchell, J.R., de Wit, J., Hoogstraten, D., Volker, M., Toussaint, W., Speksnijder, E., Beems, R.B., van Steeg, H., Jans, J., de Zeeuw, C.I., Jaspers, N.G., Raams, A., Lehmann, A.R., Vermeulen, W., Hoeijmakers, J.H., van der Horst, G.T. Cancer Cell (2006) [Pubmed]
Nucleotide excision repair disorders and the balance between cancer and aging. Andressoo, J.O., Hoeijmakers, J.H., Mitchell, J.R. Cell Cycle (2006) [Pubmed]
Disorders of DNA replication and repair. Auerbach, A.D., Verlander, P.C. Curr. Opin. Pediatr. (1997) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

AgaP_AGAP002988	Anopheles gambiae str. PEST
UVH6	Arabidopsis thaliana
AGOS_AGR114C	Ashbya gossypii ATCC 10895
ERCC2	Bos taurus
Y50D7A.2	Caenorhabditis elegans
ERCC2	Canis lupus familiaris
ercc2	Danio rerio
Xpd	Drosophila melanogaster
ERCC2	Homo sapiens
KLLA0C17776g	Kluyveromyces lactis NRRL Y-1140
ERCC2	Macaca mulatta
MGG_03132	Magnaporthe oryzae 70-15
NCU01625	Neurospora crassa OR74A
Os05g0144800	Oryza sativa Japonica Group
ERCC2	Pan troglodytes
Ercc2	Rattus norvegicus
RAD3	Saccharomyces cerevisiae S288c
rad15	Schizosaccharomyces pombe 972h-
ercc2	Xenopus (Silurana) tropicalis

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.