Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 599-610

  Hovnanian, Alain ^a   Rochat, Ariane ^b   Bodemer, Christine ^c   Petit, Elisabeth ^a   Rivers, Caroline A ^a   Prost, Catherine ^d   Fraitag, Sylvie ^c   Christiano, Angela M ^e   Uitto, Jouni ^e   Lathrop, Mark ^a   Barrandon, Yann ^b   De Prost, Yves ^c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ECOLE NORMALE SUPÉRIEURE   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d SAINT LOUIS HOSPITAL   (France)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COLLAGEN SYNTHESIS; EPIDERMOLYSIS BULLOSA; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 16944363423     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515495     Document Type: Article

References (61)

1. Al-Imara L, Richards AJ, Eady RAJ, Leigh IM, Farrall M, Pope FM (1992) Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1. J Med Genet 29:381-382
2. Baserga SJ, Benz EJ (1988) Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci 85:2056-2060
3. Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RCM, et al (1996) Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 5:1953-1961
4. Bruckner-Tuderman L (1993) Epidermolysis bullosa. In: Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders: molecular, genetic and medical aspects. Wiley-Liss, New York, pp 507-532
5. Bruckner-Tuderman L, Mitsuhashi Y, Schnyder UW, Bruckner P (1989) Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa. J Invest Dermatol 93:3-9
6. Bruckner-Tuderman L, Niemi KM, Kero M, Schnyder UW, Reunala T (1990) Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa. Br J Dermatol 122:383-390
7. Bruckner-Tuderman L, Nilssen Ø, Zimmermann DR, Dours-Zimmermann MT, Kalinke DU, Gedde-Dahl T, Winberg J-O (1995) Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. J Cell Biol 131: 551-559
8. Burgeson RE (1993) Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 101:252-255
9. Burgeson RE, Lunstrum GP, Rokosova B, Rimberg CS, Rosenbaum LM, Keene DR (1990) The structure and function of type VII collagen. Ann NY Acad Sci 580:32-43
10. Chomczynski P, Sacchi N (1987) Single step method of RNA isolation of acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
11. Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J (1994a) Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 21:160-168
12. Christiano AM, D'Alessio M, Paradisi M, Angelo C, Mazzanti C, Puddu P, Uitto J (1996a) A common insertion in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 106:679-684
13. Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, et al (1993) A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet 4:62-66
14. Christiane AM, Greenspan DS, Lee S, Uitto J (1994b) Cloning of human type VII collagen: complete primary sequence of the α1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 269:20256-20262
15. Christiano AM, Hoffman GG, Chung-Honet LC, Seungbok L, Wen C, Uitto J, Greenspan DS (1994c) Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics 21:169-179
16. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, Uitto J. A strategy for identification of sequence variants in COL7A1, and a novel 2 bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat (in press)
17. Christiano AM, Lee JY-Y, Chen WJ, LaForgia S, Uitto J (1995a) Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum Mol Genet 4:1579-1583
18. Christiano AM, McGrath JA, Tan KC, Uitto J (1996b) 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 58: 671-681
19. Christiano AM, McGrath JA, Uitto J (1996c) Influence of the second COL7A1 mutation in determining the phenotype severity of recessive dystrophic epidermolysis bullosa. J Invest Dermatol 106:766-770
20. Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J (1995b) A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. J Invest Dermatol 104:438-440
21. Christiano AM, Rosenbaum LM, Chung-Honet LC, Parente MG, Woodley DT, Pan T-C, Zhang RZ, et al (1992) The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric: homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor. Hum Mol Genet 1:475-481
22. Christiano AM, Ryynänen M, Uitto J (1994d) Dominant dystrophic epidermolysis bullosa: identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen. Proc Nad Acad Sci USA 91:3549-3553
23. Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J (1995c) Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. J Clin Invest 95: 1328-1334
24. Church GM, Gilbert W (1984) Genomic sequencing. Proc Natl Acad Sci USA 81:1991-1995
25. Dunnill MGS, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RAJ (1996) Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 107:171-177
26. Dunnill MGS, Richards AJ, Milana G, Mollica F, Atherton D, Winship I, Farrell M, et al (1994a) Genetic linkage to the type VII collagen gene in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. J Med Genet 31:745-748
27. Dunnill MGS, Richards AJ, Milana G, Mollica F, Eady RA, Pope FM (1994b) A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. Hum Mol Genet 3: 1693-1694
28. Eady RAJ (1985) Transmission electron microscopy. In: Skerrow D, Skerrow C (eds) Methods in skin research. John Wiley, London, pp 1-36
29. Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RA, Esterly NB, Holbrook KA, et al (1991) Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 24:119-135
30. Gammon WR, Abernethy ML, Padilla KM, Prisayanh PS, Cook ME, Wright J, Briggaman RA, et al (1992) Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix. J Invest Dermatol 99:691-696
31. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments. Proc Nad Acad Sci USA 90:10325-10329
32. Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M (1996) Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet 59:292-300
33. Greenspan DS (1993) The carboxy-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene. Hum Mol Genet 2:273-278
34. Heagerty AHM, Kennedy AR, Leigh IM, Purkis P, Eady RAJ (1986) Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH7:2 monoclonal antibody: use in diagnosis. Br J Dermatol 115:125-131
35. Hilal H, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano AM, et al (1993) A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet 5:287-293
36. Hovnanian A, Christiano AM, Uitto J (1993) The molecular genetics of dystrophic epidermolysis bullosa. Arch Dermatol 129:1566-1570
37. Hovnanian A, Duquesnoy P, Blanchet-Bardon C, Knowlton RG, Amselem S, Lathrop M, Dubertret L, et al (1992) Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest 90:1032-1036
38. Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M (1994) Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 55:289-296
39. Kivirikko S, Li K, Christiano AM, Uitto J (1996) Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization. J Invest Dermatol 106:1300-1306
40. Leigh IM, Eady RAJ, Heagerty AHM, Purkis PE, Whitehead PA, Burgeson RE (1988) Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 90:639-642
41. Lerman LS, Silverstein K (1987) Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. In: Wu R (ed) Methods in enzymology. Academic Press, New York, pp 482-501
42. Maquat LE (1995) When cells stop making sense: effect of non-sense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
43. McGrath JA, Ishida-Yamamoto A, O'Grady A, Leigh IM, Eady RAJ (1993) Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol 100:366-372
44. Mikkola H, Yee VC, Syrjälä M, Seitz R, Egbring R, Petrini P, Ljung R, et al (1996) Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood 87:141-151
45. Myers RM, Maniatis T, Lerman LS (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. In: Wu R (ed) Methods in enzymology. Academic-Press, New York, pp 501-527
46. Naeyaert JM, Nuytinck L, De Bie S, Beele H, Kint A, De Paepe A (1995) Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. J Invest Dermatol 104:803-805
47. Parente MG, Chung LC, Ryynänen J, Woodley DT, Wynn KC, Bauer EA, Mattel M-G, et al (1991) Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Nad Acad Sci USA 88:6931-6935
48. Prior TW, Papp AC, Snyder PJ, Burghes AHM, Bartolo C, Sedra MS, Western LM, et al (1993) A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet 4:357-360
49. Prosser J (1993) Detecting single-base mutations. Trends BioTechniques 11:238-246
50. Prost C, Dubertret L, Fosse M, Wechsler J, Touraine R (1984) A routine immuno-electron microscopic technique for localizing an auto-antibody on epidermal basement membrane. Br J Dermatol 110:1-7
51. Rheinwald JG, Green H (1975) Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell 6:331-334
52. Rochat A, Kobayashi K, Barrandon Y (1994) Location of stem cells of human hair follicles by clonal analysis. Cell 76: 1063-1073
53. Rusenko KW, Gammon WR, Fine JD, Briggamann RA (1989) The carboxy-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 92:623-627
54. Ryynänen M, Knowlton RG, Parente MG, Chung LC, Chu M-L, Uitto J (1991) Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am J Hum Genet 49:797-803
55. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
56. Sheffield VC, Cox DR, Lerman LS, Myers RM (1989) Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86:232-236
57. Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J (1996) Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 106:119-124
58. Tanaka T, Takahashi K, Furukawa F, Imamura S (1994) The epitope for anti-type VII collagen monoclonal antibody (LH7:2) locates at the central region of the N-terminal non-collagenous domain of type VII collagen. Br J Dermatol 131: 472-476
59. Tidman MJ, Eady RAJ (1984) Ultrastructural morphometry of normal human dermal-epidermal junction: the influence of age, sex, and body region on laminar and non-laminar components. J Invest Dermatol 83:448-453
60. Uitto J, Christiano AM (1994) Molecular basis of the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 287:16-22
61. Uitto J, Hovnanian A, Christiano AM (1995) Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Phys 107:245-252