New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter

Acta Dermato-Venereologica

Volumn 89, Issue 1, 2009, Pages 6-11

  Almaani, Noor ^a   Liu, Lu ^b   Harrison, Naomi ^c   Tanaka, Akio ^a   Lai Cheong, Joey E ^a   Mellerio, Jemima E ^a   McGrath, John A ^a,c  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

Author keywords

Blister; COL7A1; Inherited skin disease; Pruritus

Indexed keywords

COLLAGEN TYPE 7; GLYCINE; INTERSTITIAL COLLAGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; COLLAGEN DEGRADATION; CONTROLLED STUDY; DOMINANT INHERITANCE; ENZYME ACTIVITY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA PRURIGINOSA; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HYPOTHESIS; INFLAMMATION; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROMOTER REGION; RECESSIVE INHERITANCE; SKIN PRURITUS;

COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA; HUMANS; MATRIX METALLOPROTEINASE 1; MUTATION; PHENOTYPE; PRURITUS;

EID: 58549110076     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0605     Document Type: Article

References (47)

1. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008; 58: 931-950.
2. Uitto J, Pulkkinen L, Christiano AM. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 1994; 103: 39S-46S.
3. Christiano AM, Ryynanen M, Uitto J. Dominant dystrophic epidermolysis bullosa: Identification of a Gly-Ser substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci 1994; 91: 3549-3553.
4. McGrath JA, Schofield OM, Eady RA. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-625.
5. Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 1997; 108: 947-949.
6. Mellerio JE, Ashton GH, Mohammedi R, Lyon CC, Kirby B, Harman KE, et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999; 112: 984-987.
7. Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, et al. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet 2006; 70: 339-347.
8. Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 2008; 159: 464-469.
9. Chuang GS, Martinez-Mir A, Yu HS, Has C. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol 2004; 29: 304-307.
10. Dang N, Klingberg S, Marr P, Murrell DF. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. J Dermatol Sci 2007; 46: 169-178.
11. Ee HL, Liu L, Goh CL, McGrath JA. Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. J Am Acad Dermatol 2007; 56: S77-S81.
12. Jiang W, Bu D, Yang Y, Zhu X. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol 2002; 82: 187-191.
13. Murata T, Masunaga T, Shimizu H, Takizawa Y, Ishiko A, Hatta N, et al. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Arch Dermatol Res 2000; 292: 477-481.
14. Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci 2004; 34: 195-200.
15. Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999: 113: 673-686.
16. Ren X, Liu JY, Zhai LY, Yao Q, Dai X, Cai Z, et al. A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. Br J Dermatol 2008; 158: 618-620.
17. Lapinski P, Lapiere JC, Traczyk T, Chan LS. Sporadic dystrophic epidermolysis bullosa with concomitant atopic dermatitis. Br J Dermatol 1998; 138: 315-320.
18. Titeux M, Pendaries V, Tonasso L, Décha A, Bodemer C, Hovnanian A. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat 2008; 29: 267-276.
19. Seltzer JL, Eisen AZ, Bauer EA, Morris NP, Glanville RW, Burgeson RE. Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin. J Biol Chem 1989; 264: 3822-3826
20. Chakraborti S, Mandal M, Das S, Mandal A, Chakraborti T. Regulation of matrix metalloproteinases: an overview. Mol Cell Biochem 2003; 253: 269-285.
21. Ghilardi G, Biondi ML, Mangoni J, Leviti S, DeMonti M, Guagnellini E, et al. Matrix metalloproteinase-1 promoter polymorphism 1G/2G is correlated with colorectal cancer invasiveness. Clin Cancer Res 2001; 7: 2344-2346.
22. Ye S, Dhillon S, Turner SJ, Bateman AC, Theaker JM, Pickering RM, et al. Invasiveness of cutaneous malignant melanoma is influenced by matrix metalloproteinase 1 gene polymorphism. Cancer Res 2001; 61: 1296-1298.
23. Zinzindohoué F, Lecomte T, Ferraz JM, Houllier AM, Cugnenc PH, Berger A, et al. Prognostic significance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer. Clin Cancer Res 2005; 15: 594-599.
24. Sambrook J, Fritsch EF, Maniatis T, editors. Molecular cloning. A laboratory manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
25. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, et al. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997; 10: 408-414.
26. Rutter JL, Mitchell TI, Butticè G, Meyers J, Gusella JF, Ozelius LJ, et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 1998; 58: 5321-5325.
27. Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, et al. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. Br J Dermatol 1998; 139: 730-737.
28. Murata T, Masunaga T, Ishiko A, Shimizu H, Nishikawa T. Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations. Arch Dermatol Res 2004; 295: 442-447.
29. Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17: 553-568.
30. Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999; 113: 673-686.
31. Christiano AM, McGrath JA, Tan KC, Uitto J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996; 58: 671-681.
32. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 2007; 44: 181-192.
33. Uitto J, Richard G. Progress in epidermolysis bullosa: genetic classification and clinical implications. Am J Med Genet C Semin Med Genet 2004; 131C: 61-74.
34. Kivisaari AK, Kallajoki M, Mirtti T, McGrath JA, Bauer JW, Weber F, et al. Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. Br J Dermatol 2008; 158: 778-785.
35. Changotade SI, Assoumou A, Guéniche F, Fioretti F, Séguier S, de Prost Y, et al. Epigallocatechin gallate's protective effect against MMP7 in recessive dystrophic epidermolysis bullosa patients. J Invest Dermatol 2007; 127: 821-828.
36. Bodemer C, Tchen SI, Ghomrasseni S, Séguier S, Gaultier F, Fraitag S, et al. Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation. J Invest Dermatol 2003; 121: 273-279.
37. Mallipeddi R. Epidermolysis bullosa and cancer. Clin Exp Dermatol 2002; 27: 616-623.
38. Hinoda Y, Okayama N, Takano N, Fujimura K, Suehiro Y, Hamanaka Y, et al. Association of functional polymorphisms of matrix metalloproteinase (MIMP)-1 and MMP-3 genes with colorectal cancer. Int J Cancer 2002; 102: 526-529.
39. Hashimoto T, Uchida K, Okayama N, Imate Y, Suehiro Y, Hamanaka Y, et al. Association of matrix metalloproteinase (MMP)-1 promoter polymorphism with head and neck squamous cell carcinoma. Cancer Lett 2004; 211: 19-24.
40. Przybylowska K, Kluczna A, Zadrozny M, Krawczyk T, Kulig A, Rykala J, et al. Polymorphisms of the promoter regions of matrix metalloproteinases genes MMP-1 and MMP-9 in breast cancer. Breast Cancer Res Treat 2006; 95: 65-72.
41. Tasci AI, Tugcu V, Ozbek E, Ozbay B, Simsek A, Koksal V. A single-nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances bladder cancer susceptibility. BJU Int 2008; 101: 503-507.
42. Zhu Y, Spitz MR, Lei L, Mills GB, Wu X. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances lung cancer susceptibility. Cancer Res 2001; 61: 7825-7829.
43. Murray GI, Duncan ME, O'Neil P, McKay JA, Melvin WT, Fothergill JE. Matrix metalloproteinase-1 is associated with poor prognosis in oesophageal cancer. J Pathol 1998; 185: 256-261.
44. Murray GI, Duncan ME, O'Neil P, Melvin WT, Fothergill JE. Matrix metalloproteinase-1 is associated with poor prognosis in colorectal cancer. Nat Med 1996; 2: 461-462.
45. Kanamori Y, Matsushima M, Minaguchi T, Kobayashi K, Sagae S, Kudo R, et al. Correlation between expression of the matrix metalloproteinase-1 gene in ovarian cancers and an insertion/deletion polymorphism in its promoter region. Cancer Res 1999; 59: 4225-4227.
46. Cheng S, Tada M, Hida Y, Asano T, Kuramae T, Takemoto N, et al. High MMP-1 mRNA expression is a risk factor for disease-free and overall survivals in patients with invasive breast carcinoma. J Surg Res 2008; 146: 104-109.
47. Coussens LM, Fingleton B, Matrisian LM. Matrix metalloproteinase inhibitors and cancer: trials and tribulations. Science 2002; 295: 2387-2392.