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

American Journal of Human Genetics

Volumn 80, Issue 3, 2007, Pages 457-466

  Jaspers, Nicolaas G J ^a   Raams, Anja ^a   Silengo, Margherita Cirillo ^b   Wijgers, Nils ^a   Niedernhofer, Laura J ^c   Robinson, Andria Rasile ^c   Giglia Mari, Giuseppina ^a   Hoogstraten, Deborah ^a   Kleijer, Wim J ^a   Hoeijmakers, Jan H J ^a   Vermeulen, Wim ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; MITOMYCIN C;

ANIMAL TISSUE; ARTICLE; CASE REPORT; CLINICAL FEATURE; COCKAYNE SYNDROME; COFS SYNDROME; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA DAMAGE; ERCC1 GENE; EXCISION REPAIR; GENE; GENE MUTATION; GENETIC COMPLEMENTATION; GENOME; HUMAN; HUMAN CELL; INFANT; MOUSE; NONHUMAN; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROGERIA; TRICHOTHIODYSTROPHY; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM; XPF GENE;

ABNORMALITIES, MULTIPLE; ANIMALS; BRAIN; CELLS, CULTURED; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA REPAIR; DNA-BINDING PROTEINS; ENDONUCLEASES; EYE ABNORMALITIES; FATAL OUTCOME; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; POLYMERASE CHAIN REACTION; SKIN; SYNDROME;

EID: 33847056347     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/512486     Document Type: Article

References (57)

1. de Laat WL, Jaspers NGJ, Hoeijmakers JHJ (1999) Molecular mechanism of nucleotide excision repair. Genes Dev 13:768-785
2. Bootsma D, Kraemer K, Cleaver J, Hoeijmakers J (1997) Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 245-274
3. Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH, et al (1993) A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. AmJ Hum Genet 53:817-821
4. Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (2000) Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nat Genet 26:307-313
5. Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NGJ, Raams A, Argentini M, van der Spek PJ, et al (2004) A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet 36:714-719
6. Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, et al (1996) Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell 86:811-822
7. Busch DB, van Vuuren H, de Wit J, Collins A, Zdzienicka MZ, Mitchell DL, Brookman KW, Stefanini M, Riboni R, Thompson LH, et al (1997) Phenotypic heterogeneity in nucleotide excision repair mutants of rodent complementation groups 1 and 4. Mutat Res 383:91-106
8. Kuraoka I, Kobertz WR, Ariza RR, Biggerstaff M, Essigmann JM, Wood RD (2000) Repair of an interstrand DNA cross-link initiated by ERCC1-XPF repair/recombination nuclease. J Biol Chem 275:26632-26636
9. Niedernhofer LJ, Odijk H, Budzowska M, van Drunen E, Maas A, Theil AF, de Wit J, Jaspers NGJ, Beverloo HB, Hoeijmakers JHJ, et al (2004) The structure-specific endonuclease Ercc1-Xpf is required to resolve DNA interstrand cross-link-induced double-strand breaks. Mol Cell Biol 24:5776-5787
10. Schlake C, Ostermann K, Schmidt H, Gutz H (1993) Analysis of DNA repair pathways of Schizosaccharomyces pombe by means of swi-rad double mutants. Mutat Res 294:59-67
11. Schiestl RH, Prakash S (1990) RAD10, an excision repair gene of Saccharomyces cerevisiae, is involved in the RAD1 pathway of mitotic recombination. Mol Cell Biol 10:2485-2491
12. Radford SJ, Goley E, Baxter K, McMahan S, Sekelsky J (2005) Drosophila ERCC1 is required for a subset of MEI-9-dependent meiotic crossovers. Genetics 170:1737-1745
13. Sekelsky JJ, McKim KS, Chin GM, Hawley RS (1995) The Drosophila meiotic recombination gene mei-9 encodes a homologue of the yeast excision repair protein Rad1. Genetics 141:619-627
14. Adair GM, Rolig RL, Moore-Faver D, Zabelshansky M, Wilson JH, Nairn RS (2000) Role of ERCC1 in removal of long non-homologous tails during targeted homologous recombination. EMBO J 19:5552-5561
15. Niedernhofer LJ, Essers J, Weeda G, Beverloo B, de Wit J, Muijtjens M, Odijk H, Hoeijmakers JH, Kanaar R (2001) The structure-specific endonuclease Erccl-Xpf is required for targeted gene replacement in embryonic stem cells. EMBO J 20:6540-6549
16. Zhu XD, Niedernhofer L, Kuster B, Mann M, Hoeijmakers JH, de Lange T (2003) ERCC1/XPF removes the 3′ overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol Cell 12:1489-1498
17. Munoz P, Blanco R, Flores JM, Blasco MA (2005) XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. Nat Genet 37:1063-1071
18. Reed E (2006) ERCC1 measurements in clinical oncology. N Engl J Med 355:1054-1055
19. Kondo S, Mamada A, Miyamoto C, Keong CH, Satoh Y, Fujiwara Y (1989) 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. Photodermatol 6:89-95
20. Sijbers AM, van Voorst Vader PC, Snoek JW, Raams A, Jaspers NGJ, Kleijer WJ (1998) Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J Invest Dermatol 110:832-836
21. Westerveld A, Hoeijmakers JH, van Duin M, de Wit J, Odijk H, Pastink A, Wood RD, Bootsma D (1984) Molecular cloning of a human DNA repair gene. Nature 310:425-429
22. McWhir J, Selfridge J, Harrison DJ, Squires S, Melton DW (1993) Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nat Genet 5:217-224
23. Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, et al (2006) A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature 444:1038-1043
24. Weeda G, Donker I, de Wit J, Morreau H, Janssens R, Vissers CJ, Nigg A, van Steeg H, Bootsma D, Hoeijmakers JHJ (1997) Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol 7:427-439
25. Wood RD, Burki HJ (1982) Repair capability and the cellular age response for killing and mutation induction after UV. Mutat Res 95:505-514
26. Jaspers NGJ, Bootsma D (1982) Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. Proc Natl Acad Sci USA 79:2641-2644
27. Volker M, Mone MJ, Karmakar P, van Hoffen A, Schul W, Vermeulen W, Hoeijmakers JH, van Driel R, van Zeeland AA, Mullenders LH (2001) Sequential assembly of the nucleotide excision repair factors in vivo. Mol Cell 8:213-224
28. Jaspers NGJ, Raams A, Kelner MJ, Ng JM, Yamashita YM, Takeda S, McMorris TC, Hoeijmakers JHJ (2002) Anti-tumour compounds illudin S and irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription-and replication-coupled repair pathways. DNA Repair (Amst) 1:1027-1038
29. De Weerd-Kastelein EA, Keijzer W, Bootsma D (1972) Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nat New Biol 238:80-83
30. Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH (1990) A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell 62:777-791
31. van Vuuren AJ, Appeldoorn E, Odij k H, Humbert S, Moncollin V, Eker AP, Jaspers NGJ, Egly JM, Hoeijmakers JHJ (1995) Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities. Mutat Res 337:25-39
32. van der Spek PJ, Eker A, Rademakers S, Visser C, Sugasawa K, Masutani C, Hanaoka F, Bootsma D, Hoeijmakers JH (1996) XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes. Nucl Acids Res 24:2551-2559
33. Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC (2000) 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 66:1221-1228
34. Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NGJ (2001) 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 69:291-300
35. Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NGJ, Kleijer WJ (1996) Xeroderma pigmentosum-Cockayne syndrome complex: a further case. J Med Genet 33:607-610
36. Riedl T, Hanaoka F, Egly JM (2003) The comings and goings of nucleotide excision repair factors on damaged DNA. EMBO J 22:5293-5303
37. van Duin M, Janssen JH, de Wit J, Hoeijmakers JH, Thompson LH, Bootsma D, Westerveld A (1988) Transfection of the cloned human excision repair gene ERCC-1 to UV-sensitive CHO mutants only corrects the repair defect in complementation group-2 mutants. Mutat Res 193:123-130
38. van Duin M (1988) Cloning and characterization of the human DNA-excision repair gene ERCC1. Erasmus University, Rotterdam
39. de Laat WL, Sijbers AM, Odijk H, Jaspers NGJ, Hoeijmakers JHJ (1998) Mapping of interaction domains between human repair proteins ERCC1 and XPF. Nucl Acids Res 26:4146-4152
40. Biggerstaff M, Szymkowski DE, Wood RD (1993) Co-correction of the ERCC1, ERCC4 and xeroderma pigmentosum group F DNA repair defects in vitro. EMBO J 12:3685-3692
41. van Vuuren AJ, Appeldoorn E, Odijk H, Yasui A, Jaspers NGJ, Bootsma D, Hoeijmakers JHJ (1993) Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. EMBO J 12:3693-3701
42. Yagi T, Wood RD, Takebe H (1997) A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells. Mutagenesis 12:41-44
43. Vermeulen W, Rademakers S, Jaspers NGJ, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH (2001) A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 27:299-303
44. Hayashi T, Takao M, Tanaka K, Yasui A (1998) ERCC1 mutations in UV-sensitive Chinese hamster ovary (CHO) cell lines. Mutat Res 407:269-276
45. Sijbers AM, van der Spek PJ, Odijk H, van den Berg J, van Duin M, Westerveld A, Jaspers NGJ, Bootsma D, Hoeijmakers JHJ (1996) Mutational analysis of the human nucleotide excision repair gene ERCC1. Nucl Acids Res 24:3370-3380
46. van Duin M, van den Tol J, Warmerdam P, Odijk H, Meijer D, Westerveld A, Bootsma D, Hoeijmakers JH (1988) Evolution and mutagenesis of the mammalian excision repair gene ERCC-1. Nucleic Acids Res 16:5305-5322
47. Tsodikov OV, Enzlin JH, Scharer OD, Ellenberger T (2005) Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1. Proc Natl Acad Sci USA 102:11236-11241
48. Weeda G, Donker I, de Wit J, Morreau H, Janssens R, Vissers CJ, Nigg A, van Steeg H, Bootsma D, Hoeijmakers JH (1997) Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol 7:427-439
49. Selfridge J, Hsia KT, Redhead NJ, Melton DW (2001) Correction of liver dysfunction in DNA repair-deficient mice with an ERCC1 transgene. Nucleic Acids Res 29:4541-4550
50. Tian M, Shinkura R, Shinkura N, Alt FW (2004) Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. Mol Cell Biol 24:1200-1205
51. de Vries A, van Oostrom CT, Hofhuis FM, Dortant PM, Berg RJ, de Gruijl FR, Wester PW, van Kreijl CF, Capel PJ, van Steeg H, et al (1995) Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 377:169-173
52. -/- mice. EMBO J 24:861-871
53. Bielas S, Higginbotham H, Koizumi H, Tanaka T, Gleeson JG (2004) Cortical neuronal migration mutants suggest separate but intersecting pathways. Annu Rev Cell Dev Biol 20:593-618
54. Murai M, Enokido Y, Inamura N, Yoshino M, Nakatsu Y, van der Horst GT, Hoeijmakers JH, Tanaka K, Hatanaka H (2001) Early postnatal ataxia and abnormal cerebellar development in mice lacking xeroderma pigmentosum group A and Cockayne syndrome group B DNA repair genes. Proc Natl Acad Sci USA 98:13379-13384
55. Evans E, Moggs JG, Hwang JR, Egly JM, Wood RD (1997) Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J 16:6559-6573
56. Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NGJ, Clarkson SG (2001) Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. Pediatr Res 49:407-412
57. Thorel F, Constantinou A, Dunand-Sauthier I, Nouspikel T, Lalle P, Raams A, Jaspers NGJ, Vermeulen W, Shivji MK, Wood RD, et al (2004) Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Mol Cell Biol 24:10670-10680