Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

American Journal of Human Genetics

Volumn 63, Issue 3, 1998, Pages 737-748

  Sakuntabhai, Anavaj ^a   Hammami Hauasli, Nadja ^c   Bodemer, Christine ^d   Rochat, Ariane ^e   Prost, Catherine ^e   Barrandon, Yann ^e   De Prost, Yves ^d   Lathrop, Mark ^a   Wojnarowska, Fenella ^b   Bruckner Tuderman, Leena ^c   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e SAINT LOUIS HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; DNA; MESSENGER RNA; POLYPEPTIDE; PROCOLLAGEN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; DISEASE SEVERITY; DOMINANT INHERITANCE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; HETEROZYGOTE; HUMAN; KERATINOCYTE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SKIN BIOPSY;

EID: 0032231415     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302029     Document Type: Article

References (68)

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. Ashkenas J, Byers PH (1997) The final stage of gene expression: chaperones and the regulation of protein fate. Am J Hum Genet 61:267-272
3. Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411-2414
4. Bruckner P, Prockop D (1981) Proteolytic enzymes as probes for the triple helical conformation of procollagen. Anal Biochem 110:360-368
5. 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
6. 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
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 N Y Acad Sci 580:32-43
10. Byers PH (1990) Brittle bones-fragile molecules: disorders of collagen gene structure and expression. Trends Genet 6: 293-300
11. Chomczynski P, Sacchi N (1987) Single step method of RNA isolation of acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
12. Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J (1997a) Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. J Invest Dermatol 109:390-394
13. 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
14. Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J (1996a) Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet 58:682-693
15. Christiano AM, Bart BJ, Epstein EHJ, Uitto J (1996b) Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene. J Invest Dermatol 106:778-780
16. Christiano AM, Fine J-D, Uitto J (1997b) Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. J Invest Dermatol 109:811-814
17. Christiano 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
18. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, Uitto J (1997c) A strategy for identification of sequence variants in COL7A1, and a novel 2 bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 10:408-414
19. 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
20. Christiano AM, McGrath JA, Tan KC, Uitto J (1996c) 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
21. 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
22. Christiano AM, Ryynänen M, Uitto J (1994c) Dominant dystrophic epidermolysis bullosa: identification of a glycine-toserine substitution in the triple-helical domain of type VII collagen. Proc Natl 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. Cooper TA, Mattox W (1997) The regulation of splice-site selection, and its role in human disease. Am J Hum Genet 61:259-266
25. Coulter LR, Landree MA, Cooper TA (1997) Identification of a new class of exonic splicing enhancers by in vivo selection. Mol Cell Biol 17:2143-2150
26. Dietz HC, Kendzior RJJ (1994) Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet 8:183-188
27. Dietz HC, Valle D, Francomano CA, Kendzior RJJ, Pyeritz RE, Cutting GR (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259: 680-683
28. Dominski Z, Kole R (1991) Selection of splice sites in pre-mRNAs with short internal exons. Mol Cell Biol 11: 6075-6083
29. 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
30. Dunnill MGS, Richards AJ, Milana G, Mollica F, Atherton D, Winship I, Farrell M, et al (1994) 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
31. Eady RAJ (1985) Transmission electron microscopy. In: Skerrow D, Skerrow C (eds) Methods in skin research. John Wiley, London, pp 1-36
32. Eperon LP, Graham IR, Griffiths AD, Eperon IC (1988) Effects of RNA secondary structure on alternative splicing of pre-mRNA: is folding limited to a region behind the transcribing RNA polymerase? Cell 54:393-401
33. 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
34. 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 Natl Acad Sci USA 90:10325-10329
35. Hammami-Hauasli N, Kalinke DU, Schumann H, Kalinke U, Pontz BF, Anton-Lamprecht I, Pulkkinen L, et al (1997) A combination of a common splice site mutation and a frame-shift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin. J Invest Dermatol 109:384-389
36. Hilal L, 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
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. Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, et al (1997) Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Hum Genet 61:599-610
40. Järvikallio A, Pulkkinen L, Uitto J (1997) Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat 10:338-347
41. Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, et al (1997a) Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 108:224-228
42. Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J (1997b) Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. J Invest Dermatol 109:684-687
43. König A, Bruckner-Tuderman L (1992) Transforming growth factor beta stimulates collagen VII expression by cutaneous cells in vitro. J Cell Biol 117:679-685
44. König A, Lauharanta J, Bruckner-Tuderman L (1992) Keratinocytes and fibroblasts from a patient with mutilating dystrophic epidermolysis bullosa synthesize drastically reduced amounts of collagen VII: lack of effect of transforming growth factor β. J Invest Dermatol 99:808-812
45. Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86: 425-441
46. Kuivaniemi H, Tromp G, Bergfeld WF, Kay M, Helm TN (1995) Ehlers-Danlos syndrome type IV: a single base substitution to the last nucleotide of exon 34 in COL3A1 leads to exon skipping. J Invest Dermatol 105:352-356
47. Kuivaniemi H, Tromp G, Prockop DJ (1991) Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 5:2052-2060
48. Lee JY-Y, Pulkkinen L, Liu H-S, Chen Y-F, Uitto J (1997) 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 108: 947-949
49. Matsuo M, Nishio H, Kitoh Y, Francke U, Nakamura H (1992) Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor. Biochem Biophys Res Commun 182:495-500
50. McConkey EH (1995) Mutation: qualitative aspects. In: McConkey EH (ed) Human genetics: the molecular revolution. Jones Bartlett, Boston, pp 148-150
51. 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
52. Morris NP, Keene DR, Glanville RW, Bentz H, Burgeson RE (1986) The tissue form of type VII collagen is an antiparallel dimer. J Biol Chem 261:5638-5644
53. 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
54. Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, et al (1993) Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest 91:1862-1867
55. Raghunath M, Bruckner P, Steinmann B (1994) Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta. J Mol Biol 236:940-949
56. Reed R (1996) Initial splice-site recognition and pairing during pre-mRNA splicing. Curr Opin Genet Dev 6:215-220
57. Reed R, Maniatis T (1986) A role for exon sequences and splice-site proximity in splice-site selection. Cell 46:681-690
58. 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
59. Rochat A, Kobayashi K, Barrandon Y (1994) Location of stem cells of human hair follicles by clonal analysis. Cell 76: 1063-1073
60. 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
61. Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, et al (1997) Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet 60:1344-1353
62. 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
63. Sonnenberg A, Gehslen KR, Aumailley M, Timpl R (1991) Isolation of α6-1 integrins from platelets and adherent cells by affinity chromatography on mouse laminin fragment E8 and human laminin pepsin fragment. Exp Cell Res 197: 234-244
64. Tidman MJ, Eady RAJ (1985) Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol 84:374-377
65. Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, et al (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80:431-437
66. Zhang MQ (1998) Statistical features of human exons and their flanking regions. Hum Mol Genet 7:919-932
67. Zhuang J, Tromp G, Kuivaniemi H, Nakayasu K, Prockop DJ (1993) Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type I procollagen (COL1A2) causes exon skipping in a proband with type I osteogenesis imperfecta. Hum Genet 91:210-216
68. Zuker M (1994) Prediction of RNA secondary structure by energy minimization. In: Griffin AM, Griffin HG (eds) Computer analysis of sequence data: methods in molecular biology. Humana Press, Totowa, NJ, pp 267-294