Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay

Laboratory Investigation

Volumn 84, Issue 10, 2004, Pages 1279-1288

  Buchroithner, Birgit ^a   Klausegger, Alfred ^a   Ebschner, Ulrike ^b   Anton Lamprecht, Ingrun ^b   Pohla Gubo, Gabriele ^a   Lanschuetzer, Christoph M ^a   Laimer, Martin ^a   Hintner, Helmut ^a   Bauer, Johann W ^a  

^a UNIVERSITY OF SALZBURG   (Austria)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Epidermolysis bullosa; Laminin 5; Nonsense mediated mRNA decay; Skin disease; Splicing

Indexed keywords

GENE PRODUCT; MESSENGER RNA; PROTEIN LAMB3; UNCLASSIFIED DRUG; CELL ADHESION MOLECULE; KALININ;

ADULT; ALLELE; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DESMOSOME; DNA SPLICING; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE; GENETIC ANALYSIS; HERITABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPLASIA; IMMUNOELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INTRON; LAMB3 GENE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA DEGRADATION; RNA SPLICING; SCORING SYSTEM; STOP CODON; WILD TYPE; ALTERNATIVE RNA SPLICING; GENETICS; MALE; MOLECULAR GENETICS; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; CELL ADHESION MOLECULES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; EXONS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR FAMILY; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 4944263841     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: 10.1038/labinvest.3700164     Document Type: Article

References (25)

1. Nelson KK, Green MR. Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing. Genes Dev 1988;2:319-329.
2. Ohshima Y, Gotoh Y. Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences. J Mol Biol 1987;195:247-259.
3. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-7174.
4. Caceres JF, Kornblihtt AR. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet 2002;18:186-193.
5. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285-298.
6. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999;96:307-310.
7. Maquat LE. Nonsense-mediated RNA decay in mammalian cells: a splicing-dependent means to down-regulate the levels of mRNAs that prematurely terminate translation. In: Sonenberg N, Hershey JWB, Mathews MB (eds). Translational control of gene expression. Cold Spring Harbor Laboratory Press: Cold Spring Harbour, NY, 2000, pp 849-868.
8. Goldsmith ME, Humphries RK, Ley T, et al. 'Silent' nucleotide substition in a beta+-thalassemia globin gene activates splice site in coding sequence RNA. Proc Natl Acad Sci USA 1983;80:2318-2322.
9. Chen W, Kubota S, Teramoto T, et al. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5'splice site at the mutant codon in cerebrotendineous xanthomatosis patients. Biochemistry 1998;37:4420-4428.
10. Tavassoli K, Eigel A, Wilke K, et al. Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. Hum Mutat 1998;12:301-303.
11. Matsui C, Wang CK, Nelson CF, et al. The assembly of laminin-5 subunits. J Biol Chem 1995;270: 23496-23503.
12. Pulkkinen L, Christiane AM, Gerecke D, et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994;24:357-360.
13. Nakano A, Chao SC, Pulkkinen L, et al. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes. Hum Genet 2002;110:41-51.
14. Hintner H, Stingl G, Schuler G, et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in mechanobullous diseases. J Invest Dermatol 1981;76:113-118.
15. Pulkkinen L, McGrath JA, Christiane AM, et al. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 1995;6:77-84.
16. 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 heteroduplices. Proc Natl Acad Sci USA 1993;90:10325-10329.
17. Ebschner U. Genetische Defekte an Kontaktstrukturen der dermo-epidermalen Junktionszone als Ursache atrophisierender und vernarbender Epidermolysen: Vergleichende ultrastrukturelle und immunelektronenmikroskopische Untersuchungen an Halbdesmosomen und Verankerungsfibrillen mit polyklonalen und monoklonalen Antikörpern. Thesis, University of Heidelberg, 1994.
18. Masunaga T, Shimizu H, Ishiko A, et al. Localization of laminin 5 in the epidermal basement membrane. J Histochem Cytochem 1996;44:1223-1230.
19. Anton-Lamprecht I, Gedde-Dahl Jr T. Epidermolysis bullosa. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, Emery AE (eds). Emery and Rimoin's Principles and Practice of Medical Genetics, 4th edn. London: Churchill Livingstone, 2002, pp 3810-3897.
20. Brody E, Abelson J. The 'spliceosome': yeast premessenger RNA associates with a 40S complex in a splicing-dependent reaction. Science 1985;228:963-967.
21. Furdon PJ, Kole R. Inhibition of splicing but not cleavage at the 5' splice site by truncating human beta-globin pre-mRNA. Proc Natl Acad Sci USA 1986;83:927-931.
22. Solnick D. Alternative splicing caused by RNA secondary structure. Cell 1985;43:667-676.
23. Carter MS, Li S, Wilkinson MF. A splicing-dependent regulatory mechanism that detects translation signals. EMBO J 1996;15:5965-5975.
24. Bauer JW, Lanschuetzer C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol 2003;28:53-60.
25. Lacerra G, Sierakowska H, Carestia C, et al. Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients. Proc Natl Acad Sci USA 2000;97:9591-9596.