Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

DNA Repair

Volumn 10, Issue 7, 2011, Pages 781-791

  Gregg, Siobhán Q ^a,b   Robinson, Andria Rasile ^b,c   Niedernhofer, Laura J ^a,b  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Cancer; Endogenous damage; Genetic diseases; Knockout mice; Progeria

Indexed keywords

CITRIC ACID; CRE RECOMBINASE; CREATININE; CYTOKERATIN 5; DIMETHYLBENZ[A]ANTHRACENE; ENDONUCLEASE; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; FANCONI ANEMIA GROUP D2 PROTEIN; FANCONI ANEMIA GROUP L PROTEIN; FERRITIN; GLUCOSE; HEMOSIDERIN; LIVER ENZYME; MITOMYCIN C; MONOPHENOL MONOOXYGENASE; PEPTIDES AND PROTEINS; PREALBUMIN; PYRIMIDINE DIMER; SUCCINIC ACID; TELOMERIC REPEAT BINDING FACTOR 1; TELOMERIC REPEAT BINDING FACTOR 2; TRANSCRIPTION FACTOR IIH; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XERODERMA PIGMENTOSUM GROUP C PROTEIN; XPF PROTEIN;

ACTINIC KERATOSIS; AGING; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ANEUPLOIDY; APOPTOSIS; ARABIDOPSIS; ATAXIA; BRAIN ATROPHY; BRAIN DISEASE; CALCIFICATION; CARCINOGENESIS; CATALYSIS; CATARACT; CAUSE OF DEATH; CELL CYCLE ARREST; CELL CYCLE G2 PHASE; CELL DEATH; CELL GROWTH; CELL PROLIFERATION; CELL SURVIVAL; CEREBELLUM ATROPHY; CHROMATIN; COCKAYNE SYNDROME; COFS SYNDROME; COLON MOTILITY; CREATININE BLOOD LEVEL; CROSS LINKING; DEMENTIA; DNA BINDING; DNA DAMAGE; DNA REPAIR; DNA SYNTHESIS; DOUBLE STRANDED DNA BREAK; DROSOPHILA MELANOGASTER; DYSTONIA; ENZYME ACTIVE SITE; ENZYME BLOOD LEVEL; ERYTHEMA; EXCISION REPAIR; EXPERIMENTAL MODEL; EXPERIMENTAL MOUSE; FANCONI ANEMIA; FIBROBLAST; GASTROINTESTINAL TRACT; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENETIC COMPLEMENTATION; GLOMERULOSCLEROSIS; GLUCOSE URINE LEVEL; GROWTH DISORDER; GROWTH HORMONE SECRETING CELL; HEMATOPOIETIC SYSTEM; HEPATOBILIARY SYSTEM; HOMOLOGOUS RECOMBINATION; HUMAN; IMMUNOBLOTTING; IN VIVO STUDY; IONIZING RADIATION; JOINT CONTRACTURE; KIDNEY; KIDNEY DYSFUNCTION; KIDNEY FAILURE; KNOCKOUT MOUSE; KYPHOSIS; LIVER DYSFUNCTION; LIVER FUNCTION; MAMMAL CELL; MEIOSIS; METABOLIC ALKALOSIS; MICROCEPHALY; MISSENSE MUTATION; MOSAICISM; MUSCLE ATROPHY; MUSCULOSKELETAL SYSTEM; MUTATION RATE; NERVE DEGENERATION; NERVOUS SYSTEM; NONHUMAN; OPTIC NERVE ATROPHY; ORTHOLOGY; PHENOTYPE; PHOTOSENSITIVITY; POLYPLOIDY; PRIORITY JOURNAL; PROLACTIN SECRETING CELL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEINURIA; RADIATION DOSE; REVIEW; SACCHAROMYCES CEREVISIAE; SKIN CANCER; SPLEEN; SQUAMOUS CELL CARCINOMA; STEM CELL; STOP CODON; TELOMERE; TRICHOTHIODYSTROPHY; TSH SECRETING CELL; ULTRAVIOLET B RADIATION; ULTRAVIOLET RADIATION; UNSCHEDULED DNA SYNTHESIS; XERODERMA PIGMENTOSUM;

ANIMALS; DNA; DNA DAMAGE; DNA REPAIR; DNA REPAIR-DEFICIENCY DISORDERS; DNA-BINDING PROTEINS; ENDONUCLEASES; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; NEURODEGENERATIVE DISEASES; RARE DISEASES; TELOMERE; ULTRAVIOLET RAYS;

MUS;

EID: 79960394750     PISSN: 15687864     EISSN: 15687856     Source Type: Journal    
DOI: 10.1016/j.dnarep.2011.04.026     Document Type: Review

References (129)

1. Petit C., Sancar A. Nucleotide excision repair: from E. coli to man. Biochimie 1999, 81:15-25.
2. Kuraoka I., Kobertz W.R., Ariza R.R., Biggerstaff M., Essigmann J.M., Wood R.D. Repair of an interstrand DNA cross-link initiated by ERCC1-XPF repair/recombination nuclease. J. Biol. Chem. 2000, 275:26632-26636.
3. Ahmad A., Robinson A.R., Duensing A., van Drunen E., Beverloo H.B., Weisberg D.B., Hasty P., Hoeijmakers J.H., Niedernhofer L.J. ERCC1-XPF endonuclease facilitates DNA double-strand break repair. Mol. Cell. Biol. 2008, 28:5082-5092.
4. Sargent R.G., Brenneman M.A., Wilson J.H. Repair of site-specific double-strand breaks in a mammalian chromosome by homologous and illegitimate recombination. Mol. Cell Biol. 1997, 17:267-277.
5. Schlake C., Ostermann K., Schmidt H., Gutz H. Analysis of DNA repair pathways of Schizosaccharomyces pombe by means of swi-rad double mutants. Mutat. Res. 1993, 294:59-67.
6. Sekelsky J.J., McKim K.S., Chin G.M., Hawley R.S. The Drosophila meiotic recombination gene mei-9 encodes a homologue of the yeast excision repair protein Rad1. Genetics 1995, 141:619-627.
7. Busch D.B., van Vuuren H., de Wit J., Collins A., Zdzienicka M.Z., Mitchell D.L., Brookman K.W., Stefanini M., Riboni R., Thompson L.H., Albert R.B., van Gool A.J., Hoeijmakers J. Phenotypic heterogeneity in nucleotide excision repair mutants of rodent complementation groups 1 and 4. Mutat. Res. 1997, 383:91-106.
8. Zhu X.D., Niedernhofer L., Kuster B., Mann M., Hoeijmakers J.H., de Lange T. ERCC1/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol. Cell 2003, 12:1489-1498.
9. Munoz P., Blanco R., Flores J.M., Blasco M.A. XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. Nat. Genet. 2005, 37:1063-1071.
10. Niedernhofer L.J., Garinis G.A., Raams A., Lalai A.S., Robinson A.R., Appeldoorn E., Odijk H., Oostendorp R., Ahmad A., van Leeuwen W., Theil A.F., Vermeulen W., van der Horst G.T., Meinecke P., Kleijer W.J., Vijg J., Jaspers N.G., Hoeijmakers J.H. A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature 2006, 444:1038-1043.
11. Jaspers N.G., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H., Vermeulen W. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am. J. Hum. Genet. 2007, 80:457-466.
12. de Laat W.L., Jaspers N.G., Hoeijmakers J.H. Molecular mechanism of nucleotide excision repair. Genes Dev. 1999, 13:768-785.
13. Sijbers A.M., de Laat W.L., Ariza R.R., Biggerstaff M., Wei Y.F., Moggs J.G., Carter K.C., Shell B.K., Evans E., de Jong M.C., Rademakers S., de Rooij J., Jaspers N.G., Hoeijmakers J.H., Wood R.D. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell 1996, 86:811-822.
14. Tapias A., Auriol J., Forget D., Enzlin J.H., Scharer O.D., Coin F., Coulombe B., Egly J.M. Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors. J. Biol. Chem. 2004, 279:19074-19083.
15. Bardwell A.J., Bardwell L., Tomkinson A.E., Friedberg E.C. Specific cleavage of model recombination and repair intermediates by the yeast Rad1-Rad10 DNA endonuclease. Science 1994, 265:2082-2085.
16. Park C.H., Bessho T., Matsunaga T., Sancar A. Purification and characterization of the XPF-ERCC1 complex of human DNA repair excision nuclease. J. Biol. Chem. 1995, 270:22657-22660.
17. Enzlin J.H., Scharer O.D. The active site of the DNA repair endonuclease XPF-ERCC1 forms a highly conserved nuclease motif. EMBO J. 2002, 21:2045-2053.
18. Tsodikov O.V., Ivanov D., Orelli B., Staresincic L., Shoshani I., Oberman R., Scharer O.D., Wagner G., Ellenberger T. Structural basis for the recruitment of ERCC1-XPF to nucleotide excision repair complexes by XPA. EMBO J. 2007, 26:4768-4776.
19. Li L., Elledge S.J., Peterson C.A., Bales E.S., Legerski R.J. Specific association between the human DNA repair proteins XPA and ERCC1. Proc. Natl. Acad. Sci. USA 1994, 91:5012-5016.
20. Tsodikov O.V., Enzlin J.H., Scharer O.D., Ellenberger T. Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1. Proc. Natl. Acad. Sci. USA 2005, 102:11236-11241.
21. Tripsianes K, Folkers G., Ab E., Das D., Odijk H., Jaspers N.G., Hoeijmakers J.H., Kaptein R., Boelens R. The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair. Structure 2005, 13:1849-1858.
22. Kraemer K.H., Levy D.D., Parris C.N., Gozukara E.M., Moriwaki S., Adelberg S., Seidman M.M. Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. J. Invest. Dermatol. 1994, 103:96S-101S.
23. Mayne L.V., Lehmann A.R. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res. 1982, 42:1473-1478.
24. Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H., Mezzina M., Sarasin A. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am. J. Hum. Genet. 1997, 60:320-329.
25. Itoh T, Linn S., Ono T., Yamaizumi M. Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. J. Invest. Dermatol. 2000, 114:1022-1029.
26. Hoy C.A., Thompson L.H., Mooney C.L., Salazar E.P. Defective DNA cross-link removal in Chinese hamster cell mutants hypersensitive to bifunctional alkylating agents. Cancer Res. 1985, 45:1737-1743.
27. De Silva I.U., McHugh P.J., Clingen P.H., Hartley J.A. Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells. Mol. Cell. Biol. 2000, 20:7980-7990.
28. Niedernhofer L.J., Odijk H., Budzowska M., van Drunen E., Maas A., Theil A.F., de Wit J., Jaspers N.G., Beverloo H.B., Hoeijmakers J.H., Kanaar R. The structure-specific endonuclease Ercc1-Xpf is required to resolve DNA interstrand cross-link-induced double-strand breaks. Mol. Cell. Biol. 2004, 24:5776-5787.
29. McWhir J., Selfridge J., Harrison D.J., Squires S., Melton D.W. Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nat. Genet. 1993, 5:217-224.
30. de Vries A, van Oostrom C.T., Hofhuis F.M., Dortant P.M., Berg R.J., de Gruijl F.R., Wester P.W., van Kreijl C.F., Capel P.J., van Steeg H., et al. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 1995, 377:169-173.
31. Nakane H., Takeuchi S., Yuba S., Saijo M., Nakatsu Y., Murai H., Nakatsuru Y., Ishikawa T., Hirota S., Kitamura Y., et al. High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 1995, 377:165-168.
32. Tian M., Shinkura R., Shinkura N., Alt F.W. Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. Mol. Cell. Biol. 2004, 24:1200-1205.
33. Raschle M, Knipscheer P., Enoiu M., Angelov T., Sun J., Griffith J.D., Ellenberger T.E., Scharer O.D., Walter J.C. Mechanism of replication-coupled DNA interstrand crosslink repair. Cell 2008, 134:969-980.
34. Bhagwat N., Olsen A.L., Wang A.T., Hanada K., Stuckert P., Kanaar R., D'Andrea A., Niedernhofer L.J., McHugh P.J. XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair. Mol. Cell. Biol. 2009, 29:6427-6437.
35. Knipscheer P., Raschle M., Smogorzewska A., Enoiu M., Ho T.V., Scharer O.D., Elledge S.J., Walter J.C. The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science 2009, 326:1698-1701.
36. Munoz I.M., Hain K., Declais A.C., Gardiner M., Toh G.W., Sanchez-Pulido L., Heuckmann J.M., Toth R., Macartney T., Eppink B., Kanaar R., Ponting C.P., Lilley D.M., Rouse J. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. Mol. Cell 2009, 35:116-127.
37. Fekairi S., Scaglione S., Chahwan C., Taylor E.R., Tissier A., Coulon S., Dong M.Q., Ruse C., Yates 3rd J.R., Russell P., Fuchs R.P., McGowan C.H., Gaillard P.H. Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell 2009, 138:78-89.
38. Svendsen J.M., Smogorzewska A., Sowa M.E., O'Connell B.C., Gygi S.P., Elledge S.J., Harper J.W. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. Cell 2009, 138:63-77.
39. Andersen S.L., Bergstralh D.T., Kohl K.P., LaRocque J.R., Moore C.B., Sekelsky J. Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. Mol. Cell 2009, 35:128-135.
40. Auerbach A.D. Fanconi anemia and its diagnosis. Mutat. Res. 2009, 668:4-10.
41. Crossan G.P., van der Weyden L., Rosado I.V., Langevin F., Gaillard P.H., McIntyre R.E., Gallagher F., Kettunen M.I., Lewis D.Y., Brindle K., Arends M.J., Adams D.J., Patel K.J. Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. Nat. Genet. 2011, 43:147-152.
42. Kim Y., Lach F.P., Desetty R., Hanenberg H., Auerbach A.D., Smogorzewska A. Mutations of the SLX4 gene in Fanconi anemia. Nat. Genet. 2011, 43:142-146.
43. Stoepker C., Hain K., Schuster B., Hilhorst-Hofstee Y., Rooimans M.A., Steltenpool J., Oostra A.B., Eirich K., Korthof E.T., Nieuwint A.W., Jaspers N.G., Bettecken T., Joenje H., Schindler D., Rouse J., de Winter J.P. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat. Genet. 2011, 43:138-141.
44. Hefner E., Preuss S.B., Britt A.B. Arabidopsis mutants sensitive to gamma radiation include the homologue of the human repair gene ERCC1. J. Exp. Bot. 2003, 54:669-680.
45. Baker B.S., Carpenter A.T., Ripoll P. The utilization during mitotic cell division of loci controlling meiotic recombination and disjunction in Drosophila melanogaster. Genetics 1978, 90:531-578.
46. Fishman-Lobell J., Haber J.E. Removal of nonhomologous DNA ends in double-strand break recombination: the role of the yeast ultraviolet repair gene RAD1. Science 1992, 258:480-484.
47. Ivanov E.L., Haber J.E. RAD1 and RAD10, but not other excision repair genes, are required for double-strand break-induced recombination in Saccharomyces cerevisiae. Mol. Cell. Biol. 1995, 15:2245-2251.
48. Klein H.L Different types of recombination events are controlled by the RAD1 and RAD52 genes of Saccharomyces cerevisiae. Genetics 1988, 120:367-377.
49. Schiestl R.H., Prakash S. RAD10, an excision repair gene of Saccharomyces cerevisiae, is involved in the RAD1 pathway of mitotic recombination. Mol. Cell. Biol. 1990, 10:2485-2491.
50. Prado F, Aguilera A. Role of reciprocal exchange, one-ended invasion crossover and single-strand annealing on inverted and direct repeat recombination in yeast: different requirements for the RAD1, RAD10, and RAD52 genes. Genetics 1995, 139:109-123.
51. Paques F., Haber J.E. Two pathways for removal of nonhomologous DNA ends during double-strand break repair in Saccharomyces cerevisiae. Mol. Cell. Biol. 1997, 17:6765-6771.
52. Ma J.L., Kim E.M., Haber J.E., Lee S.E. Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences. Mol. Cell. Biol. 2003, 23:8820-8828.
53. Sargent R.G., Rolig R.L., Kilburn A.E., Adair G.M., Wilson J.H., Nairn R.S. Recombination-dependent deletion formation in mammalian cells deficient in the nucleotide excision repair gene ERCC1. Proc. Natl. Acad. Sci. USA 1997, 94:13122-13127.
54. Sargent R.G., Meservy J.L., Perkins B.D., Kilburn A.E., Intody Z., Adair G.M., Nairn R.S., Wilson J.H. Role of the nucleotide excision repair gene ERCC1 in formation of recombination-dependent rearrangements in mammalian cells. Nucleic Acids Res. 2000, 28:3771-3778.
55. Adair G.M., Rolig R.L., Moore-Faver D., Zabelshansky M., Wilson J.H., Nairn R.S. Role of ERCC1 in removal of long non-homologous tails during targeted homologous recombination. EMBO J. 2000, 19:5552-5561.
56. Niedernhofer L.J., Essers J., Weeda G., Beverloo B., de Wit J., Muijtjens M., Odijk H., Hoeijmakers J.H., Kanaar R. The structure-specific endonuclease Ercc1-Xpf is required for targeted gene replacement in embryonic stem cells. EMBO J. 2001, 20:6540-6549.
57. Al-Minawi A.Z., Saleh-Gohari N., Helleday T. The ERCC1/XPF endonuclease is required for efficient single-strand annealing and gene conversion in mammalian cells. Nucleic Acids Res. 2008, 36:1-9.
58. Satoh H., Hiyama K., Takeda M., Awaya Y., Watanabe K., Ihara Y., Maeda H., Ishioka S., Yamakido M. Telomere shortening in peripheral blood cells was related with aging but not with white blood cell count. Jpn. J. Hum. Genet. 1996, 41:413-417.
59. Hagelstrom R.T., Blagoev K.B., Niedernhofer L.J., Goodwin E.H., Bailey S.M. Hyper telomere recombination accelerates replicative senescence and may promote premature aging. Proc. Natl. Acad. Sci. USA 2010, 107:15768-15773.
60. Wu Y., Mitchell T.R., Zhu X.D. Human XPF controls TRF2 and telomere length maintenance through distinctive mechanisms. Mech. Ageing Dev. 2008, 129:602-610.
61. Kraemer K.H., Lee M.M., Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch. Dermatol. 1987, 123:241-250.
62. Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. PLoS Genet 2010, 6:e1000871.
63. Arase S., Kozuka T., Tanaka K., Ikenaga M., Takebe H. A sixth complementation group in xeroderma pigmentosum. Mutat. Res. 1979, 59:143-146.
64. Zelle B., Berends F., Lohman P.H. Repair of damage by ultraviolet radiation in xeroderma pigmentosum cell strains of complementation groups E and F. Mutat. Res. 1980, 73:157-169.
65. Nishigori C., Ishizaki K., Takebe H., Imamura S., Hayakawa M. A case of xeroderma pigmentosum group F with late onset of clinical symptoms. Arch. Dermatol. 1986, 122:510-511.
66. Yamamura K., Ichihashi M., Hiramoto T., Ogoshi M., Nishioka K., Fujiwara Y. Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan. Br. J. Dermatol. 1989, 121:471-480.
67. Norris P.G., Hawk J.L., Avery J.A., Giannelli F. Xeroderma pigmentosum complementation group F in a non-Japanese patient. J. Am. Acad. Dermatol. 1988, 18:1185-1188.
68. Fujiwara Y., Ichihashi M., Uehara Y., Matsumoto A., Yamamoto Y., Kano Y., Tanakura Y. Xeroderma pigmentosum groups C and F: additional assignments and a review of the subjects in Japan. J. Radiat. Res. (Tokyo) 1985, 26:443-449.
69. Fujiwara Y., Uehara Y., Ichihashi M., Nishioka K. Xeroderma pigmentosum complementation group F: more assignments and repair characteristics. Photochem. Photobiol. 1985, 41:629-634.
70. Kondo S., Mamada A., Miyamoto C., Keong C.H., Satoh Y., Fujiwara Y. Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F. Photodermatology 1989, 6:89-95.
71. Thielmann H.W., Popanda O., Edler L., Jung E.G. Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany. Cancer Res. 1991, 51:3456-3470.
72. Moriwaki S., Nishigori C., Imamura S., Yagi T., Takahashi C., Fujimoto N., Takebe H. A case of xeroderma pigmentosum complementation group F with neurological abnormalities. Br. J. Dermatol. 1993, 128:91-94.
73. Berneburg M., Clingen P.H., Harcourt S.A., Lowe J.E., Taylor E.M., Green M.H., Krutmann J., Arlett C.F., Lehmann A.R. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. Cancer Res. 2000, 60:431-438.
74. Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H. Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. Hum. Mol. Genet. 1998, 7:969-974.
75. Brookman K.W., Lamerdin J.E., Thelen M.P., Hwang M., Reardon J.T., Sancar A., Zhou Z.Q., Walter C.A., Parris C.N., Thompson L.H. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. Mol. Cell. Biol. 1996, 16:6553-6562.
76. Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G., Kleijer W.J. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J. Invest. Dermatol. 1998, 110:832-836.
77. Westerveld A., Hoeijmakers J.H., van Duin M., de Wit J., Odijk H., Pastink A., Wood R.D., Bootsma D. Molecular cloning of a human DNA repair gene. Nature 1984, 310:425-429.
78. Lowry R.B., MacLean R., McLean D.M., Tischler B. Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. J. Pediatr. 1971, 79:282-284.
79. Pena S.D, Shokeir M.H. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin. Genet. 1974, 5:285-293.
80. Graham J.M., Anyane-Yeboa K., Raams A., Appeldoorn E., Kleijer W.J., Garritsen V.H., Busch D., Edersheim T.G., Jaspers N.G. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am. J. Hum. Genet. 2001, 69:291-300.
81. Nouspikel T, Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc. Natl. Acad. Sci. USA 1997, 94:3116-3121.
82. Meira L.B., Graham J.M., Greenberg C.R., Busch D.B., Doughty A.T., Ziffer D.W., Coleman D.M., Savre-Train I., Friedberg E.C. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 2000, 66:1221-1228.
83. de Laat W.L., Sijbers A.M., Odijk H., Jaspers N.G., Hoeijmakers J.H. Mapping of interaction domains between human repair proteins ERCC1 and XPF. Nucleic Acids Res. 1998, 26:4146-4152.
84. Sijbers A.M., van der Spek P.J., Odijk H., van den Berg J., van Duin M., Westerveld A., Jaspers N.G., Bootsma D., Hoeijmakers J.H. Mutational analysis of the human nucleotide excision repair gene ERCC1. Nucleic Acids Res. 1996, 24:3370-3380.
85. Hamel B.C., Raams A., Schuitema-Dijkstra A.R., Simons P., van der Burgt I., Jaspers N.G., Kleijer W.J. Xeroderma pigmentosum-Cockayne syndrome complex: a further case. J. Med. Genet. 1996, 33:607-610.
86. Zafeiriou D.I., Thorel F., Andreou A., Kleijer W.J., Raams A., Garritsen V.H., Gombakis N., Jaspers N.G., Clarkson S.G. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. Pediatr. Res. 2001, 49:407-412.
87. Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G., Vermeulen W., Shivji M.K., Wood R.D., Clarkson S.G. Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Mol. Cell. Biol. 2004, 24:10670-10680.
88. Le May N., Mota-Fernandes D., Velez-Cruz R., Iltis I., Biard D., Egly J.M. NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack. Mol. Cell 2010, 38:54-66.
89. Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J. Med. Genet. 2003, 40:721-728.
90. Bosma P.T., van Eert S.J., Jaspers N.G., Stoter G., Nooter K. Functional cloning of drug resistance genes from retroviral cDNA libraries. Biochem. Biophys. Res. Commun. 2003, 309:605-611.
91. Ellis N.A., Ciocci S., German J. Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. Hum. Genet. 2001, 108:167-173.
92. Weeda G., Donker I., de Wit J., Morreau H., Janssens R., Vissers C.J., Nigg A., van Steeg H., Bootsma D., Hoeijmakers J.H. Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr. Biol. 1997, 7:427-439.
93. Prasher J.M, Lalai A.S., Heijmans-Antonissen C., Ploemacher R.E., Hoeijmakers J.H., Touw I.P., Niedernhofer L.J. Reduced hematopoietic reserves in DNA interstrand crosslink repair-deficient Ercc1-/- mice. EMBO J. 2005, 24:861-871.
94. Parmar K., D'Andrea A., Niedernhofer L.J. Mouse models of Fanconi anemia. Mutat. Res. 2009, 668:133-140.
95. Nunez F., Chipchase M.D., Clarke A.R., Melton D.W. Nucleotide excision repair gene (ERCC1) deficiency causes G(2) arrest in hepatocytes and a reduction in liver binucleation: the role of p53 and p21. FASEB J. 2000, 14:1073-1082.
96. Chipchase M.D., O'Neill M., Melton D.W. Characterization of premature liver polyploidy in DNA repair (Ercc1)-deficient mice. Hepatology 2003, 38:958-966.
97. Schumacher B., van der Pluijm I., Moorhouse M.J., Kosteas T., Robinson A.R., Suh Y., Breit T.M., van Steeg H., Niedernhofer L.J., van Ijcken W., Bartke A., Spindler S.R., Hoeijmakers J.H., van der Horst G.T., Garinis G.A. Delayed and accelerated aging share common longevity assurance mechanisms. PLoS Genet. 2008, 4:e1000161.
98. Caruso L.B., Silliman R.A. Geriatric medicine. Harrison's Principles of Internal Medicine 2006, McGraw Hill, New York. 17 ed. A.S. Fauci, E. Braunwald, D.L. Kasper, S.L. Hauser, D.L. Longo, J.L. Jameson, J. Loscalzo (Eds.).
99. Winter A.G., Samuel K., Hsia K.T., Melton D.W. The repair and recombination enzyme ERCC1 is not required for immunoglobulin class switching. DNA Repair (Amst.) 2003, 2:561-569.
100. Schrader C.E., Vardo J., Linehan E., Twarog M.Z., Niedernhofer L.J., Hoeijmakers J.H., Stavnezer J. Deletion of the nucleotide excision repair gene Ercc1 reduces immunoglobulin class switching and alters mutations near switch recombination junctions. J. Exp. Med. 2004, 200:321-330.
101. Kotnis A., Du L., Liu C., Popov S.W., Pan-Hammarstrom Q. Non-homologous end joining in class switch recombination: the beginning of the end. Philos. Trans. R. Soc. Lond. B Biol. Sci. 2009, 364:653-665.
102. Selfridge J., Hsia K.T., Redhead N.J., Melton D.W. Correction of liver dysfunction in DNA repair-deficient mice with an ERCC1 transgene. Nucleic Acids Res. 2001, 29:4541-4550.
103. Lawrence N.J., Sacco J.J., Brownstein D.G., Gillingwater T.H., Melton D.W. A neurological phenotype in mice with DNA repair gene Ercc1 deficiency. DNA Repair (Amst.) 2008, 7:281-291.
104. Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aardweg G., Jansen G.H., Ruijter J.M., Bergen A.A., van Norren D., Hoeijmakers J.H., van der Horst G.T. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol. Cell. Biol. 2007, 27:1433-1441.
105. Hsia K.T., Millar M.R., King S., Selfridge J., Redhead N.J., Melton D.W., Saunders P.T. DNA repair gene Ercc1 is essential for normal spermatogenesis and oogenesis and for functional integrity of germ cell DNA in the mouse. Development 2003, 130:369-378.
106. Paul C., Povey J.E., Lawrence N.J., Selfridge J., Melton D.W., Saunders P.T. Deletion of genes implicated in protecting the integrity of male germ cells has differential effects on the incidence of DNA breaks and germ cell loss. PLoS One 2007, 2:e989.
107. Dolle M.E., Busuttil R.A., Garcia A.M., Wijnhoven S., van Drunen E., Niedernhofer L.J., van der Horst G., Hoeijmakers J.H., van Steeg H., Vijg J. Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice. Mutat. Res. 2006, 596:22-35.
108. de Waard M.C., van der Pluijm I., Zuiderveen Borgesius N., Comley L.H., Haasdijk E.D., Rijksen Y., Ridwan Y., Zondag G., Hoeijmakers J.H., Elgersma Y., Gillingwater T.H., Jaarsma D. Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. Acta Neuropathol. 2010, 120:461-475.
109. Nevedomskaya E., Meissner A., Goraler S., de Waard M., Ridwan Y., Zondag G., van der Pluijm I., Deelder A.M., Mayboroda O.A. Metabolic profiling of accelerated aging ERCC1 d/-mice. J. Proteome Res. 2010, 9:3680-3687.
110. Li X.L., Shen S.R., Wang S., Ouyang H.H., Li G.C. Restoration of T cell-specific V(D)J recombination in DNA-PKcs(-/-) mice by ionizing radiation: the effects on survival, development, and tumorigenesis. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) 2002, 34:149-157.
111. Sonoda E., Sasaki M.S., Morrison C., Yamaguchi-Iwai Y., Takata M., Takeda S. Sister chromatid exchanges are mediated by homologous recombination in vertebrate cells. Mol. Cell. Biol. 1999, 19:5166-5169.
112. McVey M., Lee S.E. MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends Genet. 2008, 24:529-538.
113. Vo N., Seo H.Y., Robinson A., Sowa G., Bentley D., Taylor L., Studer R., Usas A., Huard J., Alber S., Watkins S.C., Lee J., Coehlo P., Wang D., Loppini M., Robbins P.D., Niedernhofer L.J., Kang J. Accelerated aging of intervertebral discs in a mouse model of progeria. J. Orthop. Res. 2010, 28:1600-1607.
114. Roughley P.J. Biology of intervertebral disc aging and degeneration: involvement of the extracellular matrix. Spine (Phila Pa 1976) 2004, 29:2691-2699.
115. Roughley P.J., Alini M., Antoniou J. The role of proteoglycans in aging, degeneration and repair of the intervertebral disc. Biochem. Soc. Trans. 2002, 30:869-874.
116. Tronche F, Casanova E., Turiault M., Sahly I., Kellendonk C. When reverse genetics meets physiology: the use of site-specific recombinases in mice. FEBS Lett. 2002, 529:116-121.
117. Doig J., Anderson C., Lawrence N.J., Selfridge J., Brownstein D.G., Melton D.W. Mice with skin-specific DNA repair gene (Ercc1) inactivation are hypersensitive to ultraviolet irradiation-induced skin cancer and show more rapid actinic progression. Oncogene 2006, 25:6229-6238.
118. J. Selfridge, L. Song, D.G. Brownstein, D.W. Melton, Mice with DNA repair gene Ercc1 deficiency in a neural crest lineage are a model for late-onset Hirschsprung disease, DNA Repair (Amst.), 9 653-660.
119. Lawrence N.J., Song L., Doig J., Ritchie A.M., Brownstein D.G., Melton D.W. Topical thymidine dinucleotide application protects against UVB-induced skin cancer in mice with DNA repair gene (Ercc1)-deficient skin. DNA Repair (Amst.) 2009, 8:664-671.
120. Smogorzewska A., van Steensel B., Bianchi A., Oelmann S., Schaefer M.R., Schnapp G., de Lange T. Control of human telomere length by TRF1 and TRF2. Mol. Cell. Biol. 2000, 20:1659-1668.
121. Munoz P., Blanco R., de Carcer G., Schoeftner S., Benetti R., Flores J.M., Malumbres M., Blasco M.A. TRF1 controls telomere length and mitotic fidelity in epithelial homeostasis. Mol. Cell. Biol. 2009, 29:1608-1625.
122. Fan L., Fuss J.O., Cheng Q.J., Arvai A.S., Hammel M., Roberts V.A., Cooper P.K., Tainer J.A. XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. Cell 2008, 133:789-800.
123. Callaghan T.M., Wilhelm: K.P. A review of ageing and an examination of clinical methods in the assessment of ageing skin, Part I: cellular and molecular perspectives of skin ageing. Int. J. Cosmet. Sci. 2008, 30:313-322.
124. Kuk J.L., Saunders T.J., Davidson L.E., Ross R. Age-related changes in total and regional fat distribution. Ageing Res. Rev. 2009, 8:339-348.
125. Baron M.S. Movement disorders in the older patient: differential diagnosis and general management. Cleve Clin. J. Med. 2005, 72:S38-51. Suppl 3.
126. Crimmins E., Vasunilashorn S., Kim J.K., Alley D. Biomarkers related to aging in human populations. Adv. Clin. Chem. 2008, 46:161-216.
127. Percy C., Pat B., Poronnik P., Gobe G. Role of oxidative stress in age-associated chronic kidney pathologies. Adv. Chronic Kidney Dis. 2005, 12:78-83.
128. Hadjipavlou A.G., Tzermiadianos M.N., Bogduk N., Zindrick M.R. The pathophysiology of disc degeneration: a critical review. J. Bone Joint Surg. Br. 2008, 90:1261-1270.
129. Imoto K., Boyle J., Oh K., Khan S., Ueda T., Nadem C., Slor H., Orgal S., Gadoth N., Busch D., Jaspers N.G., Tamura D., DiGiovanna J.J., Kraemer K.H. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J. Invest. Dermatol. 2007, 127(Suppl. (92)).