A frameshift mutation within LAMC2 is responsible for herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Mömke, Stefanie ^a   Kerkmann, Andrea ^a   Wöhlke, Anne ^a   Ostmeier, Miriam ^a   Hewicker Trautwein, Marion ^a   Ganter, Martin ^a   Kijas, James ^b   Distl, Ottmar ^a  

^a UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

^b CSIRO   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ; LAMININ ALPHA3; LAMININ BETA3; LAMININ GAMMA2; UNCLASSIFIED DRUG; CELL ADHESION MOLECULE; KALININ; LAMININ ALPHA 3;

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DOWNSTREAM PROCESSING; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE LOCATION; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; HERLITZ TYPE JUNCTIONAL EPIDERMOLYSIS BULLOSA; IMMUNOFLUORESCENCE TEST; LAMA3 GENE; LAMB3 GENE; LAMC2 GENE; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; SHEEP; STOP CODON; ANIMAL; GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALIA; OVIS ARIES;

ANIMALS; CELL ADHESION MOLECULES; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FRAMESHIFT MUTATION; LAMININ; POLYMORPHISM, SINGLE NUCLEOTIDE; SHEEP;

EID: 79955756283     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0018943     Document Type: Article

References (24)

1. Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, et al. (2002) Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 110: 41-51.
2. Bruckner-Tuderman L, (1992) Pathogenesis of mechanobullous disorders. Exp Dermatol 1: 115-120.
3. Castiglia D, Posteraro P, Spirito F, Pinola C, Angelo P, et al. (2001) Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol 117: 731-739.
4. Schneider H, Mühle C, Pacho F, (2007) Biological function of laminin-5 and pathogenic impact of its deficieny. Eur J Cell Biol 86: 701-717.
5. Spirito F, Charlesworth A, Linder K, Ortonne JP, Baird J, et al. (2002) Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol 119: 684-691.
6. Milenkovic D, Chaffaux S, Taourit S, Guérin G, (2003) A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genet Sel Evol 35: 249-256.
7. Graves KT, Henney PJ, Ennis RB, (2009) Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet 40: 35-41.
8. Nagata M, Iwasaki T, Masuda H, Shimizu H, (1997) Non-lethal junctional epidermolysis bullosa in a dog. Br J Dermatol 137: 445-449.
9. Dunstan RW, Sills RC, Wilkinson JE, Paller AS, Hashimoto KH, (1988) A disease resembling junctional epidermolysis bullosa in a toy poodle. Am J Dermatopathol 10: 442-447.
10. Capt A, Spirito F, Guaguere E, Spadafora A, Ortonne JP, et al. (2005) Inherited junctional epidermolysis bullosa in the German Pointer: Establishment of a large animal model. J Invest Dermatol 124: 530-535.
11. Guaguere E, Capt A, Spirito F, Meneguzzi G, (2003) L'Épidermolyse Bulleuse Jonctionnelle du Braque allemand: un modèle canin spontané de l'Épidermolyse Bulleuse Jonctionnelle de l'Homme. Bull Acad Vét France 157: 47-51.
12. Alhaidari Z, Olivry T, Spadafora A, Thomas RC, Perrin C, et al. (2006) Junctional epidermolysis bullosa in two domestic shorthair kittens. Vet Dermatol 16: 69-73.
13. Bruckner-Tuderman L, Guscetti F, Ehrensperger F, (1991) Animal model for dermolytic mechanobullous disease: sheep with recessive dystrophic epidermolysis bullosa lack collagen VII. J Invest Dermatol 96: 452-458.
14. Pérez V, Benavides J, Herrera EL, Reyes LE, Ferreras MC, et al. (2005) Epidermolysis bullosa in Assaf lambs. Proceedings of the 23rd Meeting of the European Society of Veterinary Pathology, Naples, Italy 173.
15. Kerkmann A, Ganter M, Frase R, Ostmeier M, Hewicker-Trautwein M, et al. (2010) Epidermolysis bullosa in German black headed mutton sheep. Berl Münch Tierärztl Wochenschr 123: 413-421.
16. Zhang XHF, Heller KA, Hefter I, Leslie CS, Chasin LA, (2003) Sequence information for the splicing of human pre-mRNA identified by support vector machine classification. Genome Res 13: 2637-2650.
17. Hiller M, Platzer M, (2008) Widespread and subtle: alternative splicing at short-distance tandem sites. Trends Genet 24: 246-255.
18. Masunaga T, Shimizu H, Ishiko A, Tomita Y, Aberdam D, et al. (1996) Localization of laminin-5 in the epidermal basement membrane. J Histochem Cytochem 44: 1223-1230.
19. Sasaki T, Göhring W, Mann K, Brakebusch C, Yamada Y, et al. (2001) Short arm region of laminin-5 γ2 chain: Structure, mechanism of processing and binding to heparin and proteins. J Mol Biol 314: 751-763.
20. Alley MR, O'Hara JO, Middelberg A, (1974) An epidermolysis bullosa of sheep. NZ Vet J 22: 55-59.
21. Abecasis GR, Cherny SS, Cookson WO, Cardon LR, (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30: 97-101.
22. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, et al. (2007) PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 81: 559-575.
23. Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
24. Bradbury PJ, Zhang Z, Kroon DE, Casstevens TM, Ramdoss Y, et al. (2007) TASSEL: software for association mapping of complex traits in diverse samples. Bioinformatics 23: 2633-2635.