Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in chesapeake bay retriever dogs

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Olivry, Thierry ^a   Linder, Keith E ^a   Wang, Ping ^b   Bizikova, Petra ^a   Bernstein, Joseph A ^c   Dunston, Stanley M ^a   Paps, Judy S ^a   Casal, Margret L ^b  

^a NORTH CAROLINA STATE UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Long Green Animal Dermatology Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; CYTOKERATIN 10; CYTOKERATIN 14; DESMOPLAKIN; PLAKOPHILIN; PLAKOPHILIN 1; UNCLASSIFIED DRUG; KERATIN; PRIMER DNA;

ACANTHOLYSIS; AGING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; DESMOSOME; DISEASE SEVERITY; DISEASE TRANSMISSION; DOG DISEASE; DONOR SITE; ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME; ELECTRON MICROSCOPY; EROSION; FRICTION; HAIR LOSS; HISTOPATHOLOGY; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; INTERMEDIATE FILAMENT; INTRON; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PUPPY; SEQUENCE ANALYSIS; SKIN EXFOLIATION; STOP CODON; ANIMAL; BIOSYNTHESIS; CHEMISTRY; DISEASE MODEL; DNA SEQUENCE; DOG; ECTODERMAL DYSPLASIA; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; METHODOLOGY; MUTATION; PATHOLOGY; PHENOTYPE; SKIN; SKIN DISEASE; TRANSMISSION ELECTRON MICROSCOPY;

ANIMALIA; CANIS FAMILIARIS;

ANIMALS; DESMOSOMES; DISEASE MODELS, ANIMAL; DNA PRIMERS; DOGS; ECTODERMAL DYSPLASIA; GENE EXPRESSION REGULATION; KERATINS; MICROSCOPY, ELECTRON; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; PHENOTYPE; PLAKOPHILINS; SEQUENCE ANALYSIS, DNA; SKIN; SKIN DISEASES;

EID: 84863170212     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032072     Document Type: Article

References (22)

1. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, et al. (2008) The classification of inherited epidermolysis bullosa (EB): Report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 58: 931-950.
2. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leight IM, et al. (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia skin fragility syndrome. Nat Genet 17: 240-244.
3. McGrath JA, Hoeger PH, Christiano AM, McMillan JR, Mellerio JE, et al. (1999) Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 140: 297-307.
4. Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, et al. (2000) Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 115: 368-374.
5. Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, et al. (2002) Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 11: 107-114.
6. Sprecher E, Molho-Pessach V, Ingber A, Sagi E, Indelman M, et al. (2004) Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 122: 647-651.
7. Steijlen PM, van Steensel MA, Jansen BJ, Blokx W, van de Kerkhof PC, et al. (2004) Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene. J Invest Dermatol 122: 1321-1324.
8. Wessagowit V, McGrath JA, (2005) Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 85: 386-388.
9. Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, et al. (2006) Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 55: 157-161.
10. Tanaka A, Lai-Cheong JE, Cafe ME, Gontijo B, Salomao PR, et al. (2009) Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two brazilian families. Br J Dermatol 160: 692-697.
11. McGrath JA, Mellerio JE, (2010) Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin 28: 125-129.
12. Bergman R, Sprecher E, (2005) Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. Am J Dermatopathol 27: 333-338.
13. Jolly RD, Alley MR, O'Hara PJ, (1973) Familial acantholysis of angus calves. Vet Pathol 10: 473-483.
14. Riet-Correa F, Barros SS, Dame MC, Peixoto PV, (1994) Hereditary suprabasilar acantholytic mechanobullous dermatosis in buffaloes (Bubalus bubalis). Vet Pathol 31: 450-454.
15. Olivry T, Linder KE, (2009) Dermatoses affecting desmosomes in animals: A mechanistic review of acantholytic blistering skin diseases. Vet Dermatol 20: 313-326.
16. Bizikova P, Linder KE, Olivry T, (2011) Immunomapping of desmosomal and nondesmosomal adhesion molecules in healthy canine footpad, haired skin and buccal mucosal epithelia: Comparison with canine pemphigus foliaceus serum immunoglobulin G staining patterns. Vet Dermatol 22: 132-142.
17. Nel S, Van Heerden MB, Steenkamp G, Van Heerden WF, Boy SC, (2011) Immunohistochemical profile of odontogenic epithelium in developing dog teeth (canis familiaris). Vet Pathol 48: 276-282.
18. McGrath JA, Bolling MC, Jonkman MF, (2010) Lethal acantholytic epidermolysis bullosa. Dermatol Clin 28: 131-135.
19. McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, et al. (2003) Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol 121: 96-103.
20. Hartmann L, Theiss S, Niederacher D, Schaal H, (2008) Diagnostics of pathogenic splicing mutations: Does bioinformatics cover all bases? Front Biosci 13: 3252-3272.
21. Hatzfeld M, (2007) Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion? Biochim Biophys Acta 1773: 69-77.
22. Isken O, Maquat LE, (2007) Quality control of eukaryotic mRNA: Safeguarding cells from abnormal mRNA function. Genes Dev 21: 1833-1856.