LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: Consequences at the mRNA and protein levels

Laboratory Investigation

Volumn 78, Issue 7, 1998, Pages 859-867

  Pulkkinen, Leena ^a,f   Jonkman, Marcel F ^b   McGrath, John A ^c   Kuijpers, Astrid ^d   Paller, Amy S ^e   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e NORTHWESTERN UNIVERSITY   (United States)

^f KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; LAMININ; MESSENGER RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE MUTATION; HEMIDESMOSOME; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; STOP CODON;

EID: 0031824701     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (48)

1. Aebi M, Hornig H, and Weissman C (1987). 5′ cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5′ splice region, not by the conserved 5′ GU. Cell 50:237-246.
2. Aumailley M and Krieg T (1996). Laminins: A family of diverse multifunctional molecules of basement membranes. J Invest Dermatol 106:209-214.
3. Bruins S, De Jong MC, Heeres K, Wilkinson MHF, Jonkman MF, and Van der Meer JB (1995). Fluorescence overlay antigen mapping of the epidermal basement membrane zone: III. Topographic staining and effective resolution. J Histochem Cytochem 43:649-656.
4. Champliaud M-F, Lunstrum GP, Rousselle P, Nishiyama T, Keene DR, and Burgeson RE (1996). Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment. J Cell Biol 132:1189-1198.
5. Chavanas S, Gache Y, Tadini GL, Pulkkinen L, Uitto J, Ortonne J-P, and Meneguzzi G (1997). A homozygous inframe deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 109:74-78.
6. Christiano AM and Uitto J (1996). Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 5:1-11.
7. Cooper DN (1993). Human gene mutation affecting RNA processing and translation. Ann Med 85:11-17.
8. Cui Y, Hagan KW, Zhang S, and Peltz SW (1995). Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev 9:423-436.
9. Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, and Yancey KB (1997). Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 108:463-468.
10. Engel J (1992). Laminins and other strange proteins. Biochemistry 31:10643-10651.
11. Fine J-D, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, and Sybert VP (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.
12. Ganguly A, Rock MJ, and Prockop DJ (1993). 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.
13. Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath JA, and Uitto J (1997). Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 60:352-365.
14. Gerecke DR, Wagman DW, Champliaud MF, and Burgeson RE (1994). The complete primary structure for a novel laminin chain, the laminin B1k chain. J Biol Chem 269:11073-11080.
15. Hashimoto I, Schnyder UW, and Anton-Lamprecht I (1976). Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152:72-86.
16. Hintner H and Wolff K (1982). Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118:375-384.
17. Jonkman MF, De Jong MC, Heeres K, Pas HH, van der Meer JB, Owaribe K, Martinez de Velasco AM, Niessen CM, and Sonnenberg A (1995). 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 95:1345-1352.
18. Jonkman MF, De Jong MC, Heeres K, Steijlen PM, Owaribe K, Küster W, Meurer M, Gedde-Dahl T Jr, Sonnenberg A, and Bruckner-Tuderman L (1996). Generalized atrophic benign epidermolysis bullosa. Either 180-kD bullous pemphigoid antigen or laminin 5 deficiency? Arch Dermatol 132:145-150.
19. Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, and Uitto J (1997). Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88:543-551.
20. Krämer A, Keller W, Appel B, and Lührmann R (1984). The 5′ terminus of the RNA moiety of U1 small nuclear ribonucleoprotein particles is required for the splicing of messenger RNA precursors. Cell 38:299-307.
21. Matsui C, Nelson CF, Hernandez GT, Scott HG, Bauer EA, and Hoeffler WK (1995). γ2 chain of laminin-5 is recognized by monoclonal antibody GB3. J Invest Dermatol 105:648-652.
22. McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RAJ, and Uitto J (1995a). Mutations in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (Type XVII), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11:83-86.
23. McGrath JA, Christiano AM, Pulkkinen L, Eady RAJ, and Uitto J (1996c). Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in non-lethal junctional epidermolysis bullosa. J Invest Dermatol 106:1157-1159.
24. McGrath JA, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano AM, Yancey KB, and Uitto J (1996a). A homozygous deletion mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 106:771-774.
25. McGrath JA and Eady RAJ (1997). The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. J Dermatol Sci 14:68-75.
26. McGrath JA, Gatalica B, Li K, Dunnill MGS, McMillan J, Christiano AM, Eady RAJ, and Uitto J (1996b). Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 148:1787-1796.
27. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, and Uitto J (1995b). Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474.
28. Mount SM, Petterson I, Hinterberger M, Karmas A, and Steitz JA (1983). The U1 small nuclear RNA-protein complex selectively binds a 5′ splice site in vitro. Cell 33:509-518.
29. Newman AJ (1994). Pre-mRNA splicing. Curr Opin Genet Dev 4:298-304.
30. Nishizawa Y, Uematsu J, and Owaribe K (1993). HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. J Biochem (Tokyo) 113:493-501.
31. Nomizu M, Otaka A, Utani A, Roller PP, and Yamada Y (1994). Assembly of synthetic laminin peptides into a triple-stranded coiled-coil structure. J Biol Chem 269:30386-30392.
32. Paller AS, Fine J-D, Kaplan S, and Pearson RW (1986). The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States. Arch Dermatol 122:704-710.
33. Pikkarainen T, Eddy R, Fukushima Y, Byers M, Shows T, Pihlajaniemi T, Saraste M, and Tryggvason K (1987). Human laminin β1 chain: A multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7. J Biol Chem 262:10454-10462.
34. Pohla-Gubo G, Lazarova Z, Giudice GJ, Liebert M, Grassegger A, Hintner H, and Yancey KB (1995). Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 4:119-206.
35. Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, and Uitto J (1994). A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360.
36. Pulkkinen L, McGrath JA, Christiano AM, and Uitto J (1995a). Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 6:77-84.
37. Pulkkinen L, Gerecke D, Christiano AM, Wagman DW, Burgeson RE, and Uitto J (1995b). Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics 25:192-198.
38. Pulkkinen L, Uitto J, and Christiano AM (in press, 1998). The molecular basis of junctional forms of epidermolysis bullosa. In: Fine J-D, Bauer EA, McGuire J, and Moshell A, editors. Epidermolysis bullosa. Baltimore, Maryland: The Johns Hopkins University Press.
39. Reed R (1996). Initial splice-site recognition and pairing during pre-mRNA splicing. Curr Opin Genet Dev 6:215-220.
40. Rouselle P, Lunstrum GP, Keene DR, and Burgeson RE (1991). Kalinin an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 114:567-576.
41. Scheffer H, Stulp RP, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl TJ, te Meerman GJ, Sonnenberg A, Buys CH, and Jonkman MF (1997). Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: The example of the collagen type XVII (COL17A1) locus in generalized atrophiC benign epidermolysis bullosa. Hum Genet 100:230-235.
42. Schumann H, Hammami-Hauasli NH, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, Uitto J, and Bruckner-Tuderman L (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.
43. Shapiro MB and 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.
44. Tidman M and Eady RAJ (1986). Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51-56.
45. Uitto J and Pulkkinen L (1996). Molecular complexity of the cutaneous basement membrane zone. Mol Biol Report 23: 35-46.
46. Utani A, Kopp JB, Kozak CA, Matsuki Y, Amizuka N, Sugiyama S, and Yamada Y (1995). Mouse kalinin B1 (laminin β3 chain): cloning and tissue distribution. Lab Invest 72:300-310.
47. Vailly J, Pulkkinen L, Miquel C, Christiano AM, Gerecke D, Burgeson RE, Uitto J, Ortonne J-P, and Meneguzzi G (1995). Identification of a homozygous one basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 104:462-466.
48. Wewer UM, Gerecke DR, Durkin ME, Kurtz KS, Mattei M-G, Champliaud M-F, Burgeson RE, and Albrechtsen R (1994). Human β2 chain of laminin (formerly S-chain): cDNA cloning, chromosomal localization, and expression in carcinomas. Genomics 24:243-252.