Xeroderma pigmentosum and related syndromes;Xeroderma pigmentosum und verwandte syndrome

Hautarzt

Volumn 54, Issue 1, 2003, Pages 33-40

  Berneburg, Mark ^a   Krutmann, J ^b  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Cockayne Syndrome; DNA repair; Nucleotide excision repair; Trichothiodystrophy; Xeroderma pigmentosum

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; COCKAYNE SYNDROME; DNA DAMAGE; DNA REPAIR; EXCISION REPAIR; GENE MUTATION; GENODERMATOSIS; HUMAN; PHOTOSENSITIVITY; SKIN TUMOR; TRANSCRIPTION REGULATION; XERODERMA PIGMENTOSUM; ADOLESCENT; ADULT; DIFFERENTIAL DIAGNOSIS; GENETICS; HAIR DISEASE; INFANT; NEWBORN; PRECANCER; PRESCHOOL CHILD; PROGNOSIS; SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COCKAYNE SYNDROME; DIAGNOSIS, DIFFERENTIAL; DNA REPAIR; HAIR DISEASES; HUMANS; INFANT; INFANT, NEWBORN; PRECANCEROUS CONDITIONS; PROGNOSIS; SKIN NEOPLASMS; SYNDROME; XERODERMA PIGMENTOSUM;

EID: 0038605709     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Berneburg M, Lehmann AR (2001) Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. Adv Genetics 43:71-102
2. de Laat WL, Jaspers NG, Hoeijmakers JH (1999) Molecular mechanism of nucleotide excision repair. Genes Dev 13:768-785
3. Lehmann AR (1998) Dual functions of DNA repair genes: molecular, cellular, and clinical implications. Bioessays 20:146-155
4. van Hoffen A, Natarajan AT, Mayne LV et al. (1993) Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. Nucleic Acids Res 21:5890-5895
5. van Gool A, van der Horst E, Citterio E, Hoeijmakers JH (1997) Cockayne syndrome: defective repair of transcription? Embo J 16:4155-4162
6. Schaeffer L, Moncollin V, Roy R et al. (1994) The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. Embo J 13:2388-2392
7. Chang RD, Komberg RD (2000) Electron crystal structure of the transcription factor and DNA repair. Cell 102:609-613
8. Lehmann AR (1995) Nucleotide excision repair and the link with transcription. Trends Biochem Sci 20:402-405
9. Wood RD (1999) DNA damage recognition during nucleotide excision repair in mammalian. Biochimie 81:39-44
10. Cooper T, Nouspikel SG, Clarkson SA, Leadon SA (1997) Defective transcription-coupled repair of oxidative base damage. Science 275:990-993
11. Le Page F, Kwoh A, Avrutskaya A et al. (2000) Transcription-coupled repair of 8-oxoguanine: requirement for XPG,TFIIH and CSB Cell 101:159-171
12. Schaeffer L, Roy R, Humbert S et al. (1993) DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260:58-63
13. Viprakasit V, Gibbons RJ, Broughton BC et al. (2001) Mutations in the general transcription factor TFIIH result in TTD. Hum Mol Genet 10:2797-2802
14. Keriel A, Stary A, Sarasin A et al. (2002) XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors. Cell 109:125-135
15. Norris PG, Limb GA, Hamblin AS, Hawk JL (1988) Impairment of natural-killer-cell activity in xeroderma pigmentosum. N Engl J Med 319:1668-1669
16. Norris PG, Limb GA, Hamblin AS et al. (1990) Immune function, mutant frequency, and cancer risk in the DNA repair repair deficiency syndrome xeroderma pigmentosum. J Invest Dermatol 94:94-100
17. Ahrens C, Grewe M, Berneburg M et al. (1997) Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals. Proc Natl Acad Sci USA 94:6837-6841
18. Berneburg M, Clingen PH, Harcourt SA et al. (2000) The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. Cancer Res 60:431-438
19. Vink AA, Shreedhar V, Roza L et al. (1998) Cellular target of UVB-induced DNA damage resulting in local suppression of contact hypersensitivity J Photochem Photobiol B 44:107-111
20. Schwarz A, Stander S, Berneburg M et al. (2002) Interleukin-12 suppresses ultraviolet radiation-induced apoptosis by inducing DNA repair. Nat Cell Biol 4:26-31
21. Kraemer KH, Levy DD, Parris CN et al. (1994) Xeroderma pigmentosum and related disorders: examining the linkage J Invest Dermatol 103:96-101
22. Fritsch C, Bolsen K, Ruzicka T, Goerz G (1997) Congenital erythropoietic porphyria. J Am Acad Dermatol 36:594-610
23. Hahn H, Wicking C, Zaphiropoulous PG et al. (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal. Cell 85:841-851
24. Johnson RL, Rothman AL, Xie J et al. (1996) Human homolog of patched, a candidate gene for the basal cell nevus. Science 272:1668-1671
25. Lehmann AR (2001) The xeroderma pig mentosum group D (XPD) gene: one gene, two functions. Genes Dev 15:15-23
26. Stege H, Roza L, Vink AA et al. (2000) Enzyme plus light therapy to repair immunosuppressive effects on human skin damaged by ultraviolet B-radiation. Proc Natl Acad Sci 97:1790-1795
27. Yarosh D, Alas LG, Yee V et al. (1992) Pyrimidine dimer removal enhanced by DNA repair liposomes reduces the incidence of UV skin cancer in mice. Cancer Res 52:4227-4231
28. Yarosh D, Klein J, O'Connor A et al. (2001) Effect of topically applied T4 endonuclease V in liposomes on skin cancer. Lancet 357-926-929
29. Fritsch C Lang K, Neuse W et al. (1998) Photodynamic diagnosis and therapy in dermatology. Skin Pharmacol Appl Skin Physiol 11:358-373
30. van Gool AJ, Citterio E, Rademakers S et al. (1997) The Cockayne syndrome B protein, involved in transcription-coupled DNA repair Embo J 16:5955-5965
31. Berneburg M, Lowe JE, Nardo T et al. (2000) UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and cockayne syndrome Embo J 19:1157-1166
32. Stefanini M, Fawcett H, Botta E et al. (1996) Genetic analysis of twenty-two patients with Cockayne syndrome Hum Genet 97:418-423
33. Nouspikel P, Lalle R Leadon SA et al. (1997) A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum. Proc Natl Acad Sci USA 94:3116-3121
34. Friedberg EC (1996) Cockayne syndrome - a primary defect in DNA repair, transcription or both. Bioessays 18:731-738
35. Poissonnier M, Blanc A, Bat P (1988) Genetic counseling in a case of neuro-ectodermosis: Vera Price Syndrome. J Genet Hum 36:361-365
36. Itin PH, Sarasin A, Pittelkow M (2001) Trichothiodystrophy: update on the sulfur-deficient brittle hair J Am Acad Dermatol 44:891-920
37. Botta E, Nardo T, Broughton BC et al. (1998) Analysis of mutations in the XPD gene in Italian patients with Cockayne Syndrome. Am J Hum Genet 63:1036-1048
38. Vermeulen W, Bergmann E, Auriol J et al. (2000) Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A. Nat Genet 26:307-313
39. Taylor EM, Broughton BC, Botta E et al. (1997) Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene Proc Natl Acad Sci USA 94:8658-8663
40. Mariani E, Facchini A, Honorati AM et al. (1992) Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy. Clin Exp Immunol 88:376-382
41. Broughton BC, Berneburg M, Fawcett H et al. (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy. Hum Mol Genet 10:2539-2547