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

Journal of Investigative Dermatology

Volumn 113, Issue 4, 1999, Pages 673-686

  Whittock, Neil V ^a,b   Ashton, Gabrielle H S ^a   Mohammedi, Rafik ^a   Mellerio, Jemima E ^a   Mathew, Christopher G ^b   Abbs, Stephen J ^b   Eady, Robin A J ^a   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Epidermolysis bullosa; Skin blistering

Indexed keywords

COLLAGEN TYPE 7;

ARTICLE; DNA DETERMINATION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FLUORESCENCE; GENE MUTATION; HUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0032834881     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00732.x     Document Type: Article

References (91)

1. Bruckner-Tuderman L, Nilssen O, Zimmermann DR, Dours-Zimmermann MT, Kalinke DU, Gedde-Dahl T Jr, Winberg JO: Immunohistochemical and mutation analysis demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. J Cell Biol 131:551-559, 1995
2. Burgeson RE: Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 101:252-255, 1993
3. Chen W, Kubota S, Ujike H, Ishihara T, Seyama Y: A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. Biochemistry 37:15050-15056, 1998
4. Chen CH, Shyu PW, Wu SJ, Desnick RJ, Hsiao KJ: Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Hum Mutat 11:328-330, 1998
5. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159, 1987
6. Christiano AM, Greenspan DS, Hoffman GG, et al: A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nature Genet 4:62-66, 1993
7. Christiano AM, Hoffman GG, Chung-Honet LC, Lee S, Cheng W, Uitto J, Greenspan DS: Structural organisation of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterised gene. Genomics 21:169-179, 1994a
8. Christiano AM, Greenspan DS, Lee S, Uitto J: Cloning of human type VII collagen. Complete primary sequence of the (1 (VII) chain and identification of intragenic polymorphisms. J Biol Chem 269:20256-20262, 1994b
9. Christiano AM, Ryynanen M, Uitto J: Dominant dystrophic epidermolysis bullosa: Identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci USA 91:3549-3553, 1994c
10. Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J: 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, 1995a
11. Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalien R, Uitto J: 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, 1995b
12. Christiano AM, Lee JY-Y, Chen WJ, LaForgia S, Uitto J: 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, 1995c
13. Christiano AM, D'Alessio M, Paradisi M, Angelo C, Mazzanti C, Puddu P, Uitto J: A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 106:679-684, 1996a
14. Christiano AM, LaForgia S, Paller AS, McGuire J, Shimizu H, Uitto J: Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in ten families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 2:59-76, 1996b
15. 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 58:671-681, 1996c
16. Christiano AM, McGrath JA, Uitto J: Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive, dystrophic epidermolysis bullosa. J Invest Dermatol 106:766-770, 1996d
17. Christiano AM, Bart BJ, Epstein EH, Uitto J: Genetic basis of Bart's syndrome: a glycine substitution in the type VII collagen gene. J Invest Dermatol 106:778-780, 1996e
18. Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J: 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, 1996f
19. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, Uitto J: 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, 1997a
20. Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J: 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, 1997b
21. Christiano AM, Fine JD, Uitto J: 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, 1997c
22. Cotton RG, Rodriguez NR, Campbell RD: Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401, 1988
23. Cserhalmi-Friedman PB, Grossman J, Karpati S, Ahmad W, Horvath A, Christiano AM: Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. Exp Dermatol 8:143-145, 1999
24. Cserhalmi-Friedman PB, Karpati S, Horvath A, Christiano AM: Identification of a glycine substitution and a splice site mutation in the type collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. Arch Dermatol Res 289:640-645, 1997
25. Cserhalmi-Friedman PB, McGrath JA, Mellerio JE, et al: Restoration of open reading frame due to skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest 78:1483-1492, 1998
26. Darling TN, McGrath JA, Yee C, et al: Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalised atrophic benign epidermolysis bullosa. J Invest Dermatol 108:463-468, 1997
27. Darling TN, Yee C, Koh B, et al: Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalised atrophic benign epidermolysis bullosa. J Invest Dermatol 110:165-169, 1998
28. Dunnill MGS, Richards AJ, Milana G, Mollica F, Eady RA, Pope FM: 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, 1994
29. Dunnill MGS, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA: Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 107:171-177, 1996
30. Fodde R, Losekoot M: Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat 3:83-94, 1994
31. Forrest SM, Dahl HH, Howells DW, Dianzani I, Cotton RG: Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. Am J Hum Genet 49:175-183, 1991
32. Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329, 1993
33. Gardella R, Belleti L, Zoppi N, Marini D, Barlati S, Colombi M: 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, 1996
34. Gardner RJ, Bobrow M, Roberts RG: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 57:311-320, 1995
35. Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L: Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. Hum Genet 98:719-726, 1996
36. Gibson RA, Morgan NV, Goldstein LH, et al: Novel mutations and polymorphisms in the Fanconi anaemia group C gene. Hum Mutat 8:140-148, 1996
37. Greenman J, Mohammed S, Ellis D, et al: Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer. Genes Chromosomes Cancer 21:244-249, 1998
38. Grompe M, Muzny DM, Caskey CT: Scanning detection of mutations in human onuthine transcarhamoylase by chemical mismatch cleavage. Proc Natl Acad Sci USA 86:5888-5892, 1989
39. Hammami-Hauasli N, Kalinke DU, Schumann H, et al: A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin. J Invest Dermatol 109;384-389, 1997
40. Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Luthi U, Luger T, Bruckner-Tuderman L: Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. J Biol Chem 273:19228-19234, 1998a
41. Hammami-Hauasli N, Raghunath M, Kuster W, Bruckner-Tuderman L: Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 111:1214-1219, 1998b
42. Hashimoto I, Kon A, Tamai K, Uitto J: Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?. Exp Dermatol 8:140-142, 1999
43. Hilal L, Rochat A, Duquesnoy P, et al: A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nature Genet 5:287-292, 1993
44. Hovnanian A, Duquesnoy P, Blanchet-Bardon C, et al: Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest 90:1032-1036, 1992
45. Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M: Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 55:289-296, 1994
46. Hovnanian A, Rochat A, Bodemer C, et al: Characterisation 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, 1997
47. Jarvikallio A, Pulkkinen L, Uitto J: Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat 10:338-347, 1997
48. Jonkman MF, Moreno G, Rouan F, Oranje AP, Pulkkinen L, Uitto J: Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene. J Invest Dermatol 112:815-817, 1999
49. Kanters JK, Larsen LA, Orholm M, Agner E, Andersen PS, Vuust J, Christiansen M: Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome. J Cardiovasc Electrophysiol 9:620-624, 1998
50. Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J: 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, 1997a
51. Kon A, McGrath JA, Pulkkinen L, et al. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counselling. J Invest Dermatol 108:224-228, 1997b
52. Kon A, Pulkkinen L, Ishida-Yamamoto A, Hashimoto I, Uitto J: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 111:534-537, 1998
53. Korkko J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L: Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 95:1681-1685, 1998
54. Lee JY-Y, Pulkkinen L, Liu H-S, Chen Y-F, 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 108:947-949, 1997
55. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al: Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genet 14:320-323, 1996
56. McCarthy EM, Phillips JA 3rd: Characterisation of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum Mol Genet 7:1491-1496, 1998
57. McGrath JA, Ishida-Yamamoto A, O'Grady A, Leigh IM, Eady RA: Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol 100:366-372, 1993
58. Mecklenbeck S, Hammami-Hauasli N, Hopfner B, Schumann H, Kramer A, Kuster W, Bruckner-Tuderman L: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. J Invest Dermatol 112:398-400, 1999
59. Mellerio JE, Ashton GHS, Mohammedi R et al: Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 112:984-987, 1999
60. Mellerio JE, Dunhill MGS, Allison W, et al: Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 109:246-249, 1997
61. Myers RM, Maniatis T, Lerman I. Detection and localisation of single base changes by denaturing gradient gel electrophoresis. In: Wu R eds. Methods in Enzymology, Vol 155. San Diego: Academic Press, 1987, pp. 501-527
62. Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879, 1989
63. Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T: A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. Hum Mutat 11:335-336, 1998
64. Ries S, Buchler C, Schindler G, et al: Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Hum Mutat 12:44-51, 1998
65. Roberts E, Deeble VJ, Woods CG, Taylor GR: Potassium permanganate and tetracthylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch. Nucl Acids Res 25:3377-3378, 1997
66. Roest PAM, Roberts RG, Sugino S, van Ommen GTB, den Dunnen JT: Protein truncation test (PTT) for rapid detection of translation terminating mutations. Hum Mol Genet 2:1719-1721, 1993a
67. Roest PAM, Roberts RG, van der Tuijn AC, Heikoop JC, van Ommen GTB, den Dunnen JT: Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating invitations. Neuromusc Disord 3:391-394, 1993b
68. Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M: Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test. Hum Genet 98:328-332, 1996
69. Rouan F, Pulkkinen L, Jonkman MF, Bauer JW, Cserbalmi-Friedman PB, Christiano AM, Uitto J: Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counselling. J Invest Dermatol 111:1210-1213, 1998
70. Rowley G, Saad S, Gianelli F, Green P: Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage. Genomics 30:574-582, 1995
71. Ryynanen M, Knowlton RG, Parente MG, Chung LC, Chu M-L, Uitto J: 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, 1991
72. Ryynanen M, Ryynanen J, Sollberg S, Iozzo RV, Knowlton RG, Uitto J: Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J Clin Invest 89:974-980, 1992
73. Sakuntabhai A, Hammami-Hauasli N, Bodemer C, et al: Deletions within COL7A1 exon distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. Am J Hum Genet 63:737-748, 1998
74. Salas-Alanis JC, Mellerio JE, Amaya-Guerra M, Ashton GH, Eady RA, McGrath JA: Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa. Br J Dermatol 138:852-858, 1998
75. Saleeba JA, Ramus SJ, Cotton RG: Complete mutation detection using unlabelled chemical cleavage. Hum Mutat 1:63-69, 1992
76. Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucl Acids Res 15:7155-7174, 1987
77. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM: The sensitivity of single-stranded conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325-332, 1993
78. Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M: Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 100:2204-2210, 1997
79. Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J: Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 106:119-124, 1996
80. Takizawa Shimiza H, Rouan F, Kawai M, Udono M, Pulkkinen L, Nishikawa T, Uitto J: Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with musclar dystrophy disclosed by heteroduplex scanning and protein truncation tests. J Invest Dermatol 112:109-112, 1999
81. Tamai K, Ishida-Yamamoto A, Matsou S, et al: Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab Invest 76:209-217, 1997
82. Terracina M, Posteraro P, Schubert M, et al: Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localised recessive dystrophic epidermolysis bullosa. J Invest Dermatol 111:744-750, 1998
83. Tidman MJ, Eady RA: 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, 1985
84. Valentine CR: The association of nonsense codons with exon skipping. Mutat Res 411:87-117, 1998
85. Verpy E, Biasotto M, Meo T, Tosi M: Efficient detection of point mutations on color-coded strands of target DNA. Proc Natl Acad Sci USA 91:1873-1877, 1994
86. Vindevoghel L, Chung KY, Davis A, et al: A GT-rich sequence binding the transcription factor Sp1 is crucial for high expression of the human type VII collagen gene (COL7A1) in fibroblasts and keratinocytes. J Biol Chem 272:10196-10204, 1997
87. Vindevoghel L, Kon A, Lechleider RJ, Uitto J, Roberts AB, Mauviel A: Smad-dependent transcriptional activation of human type VII collagen gene (COL7A1) promoter by transforming growth factor-beta. J Biol Chem 273:13053-13057, 1998
88. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M: Detecting single base substitutions as heteroduplex polymorphisms. Genomics 12:301-306, 1992
89. Whittock NV, Roberts RG, Mathew CG, Abbs SJ: Dystrophin point mutation screening using a multiplexed protein truncation test. Genetic Testing 1:115-123, 1997
90. Winberg J-O, Hammami-Hauasli N, Nilssen O, et al: Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. Hum Mol Genet 6:1125-1135, 1997
91. Yau SC, Bobrow M, Abbs SJ: Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558, 1996