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A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle.
Sartelet, Arnaud; Harland, Chad; Tamma, Nico; Karim, Latifa; Bayrou, Calixte; Li, Wanbo; Ahariz, Naima; Coppieters, Wouter; Georges, Michel; Charlier, Carole.
Afiliación
  • Sartelet A; Bovine Clinic, FARAH and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Harland C; Unit of Animal Genomics, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Tamma N; Unit of Animal Genomics, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Karim L; Unit of Animal Genomics, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Bayrou C; GIGA-Genomic platform, University of Liège, Liège, Belgium.
  • Li W; Department of Pathology, FARAH and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Ahariz N; Bovine Clinic, FARAH and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Coppieters W; Unit of Animal Genomics, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
  • Georges M; GIGA-Genomic platform, University of Liège, Liège, Belgium.
  • Charlier C; Unit of Animal Genomics, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
Anim Genet ; 46(5): 566-70, 2015 Oct.
Article en En | MEDLINE | ID: mdl-26370913
Four newborn purebred Belgian Blue calves presenting a severe form of epidermolysis bullosa were recently referred to our heredo-surveillance platform. SNP array genotyping followed by autozygosity mapping located the causative gene in a 8.3-Mb interval on bovine chromosome 24. Combining information from (i) whole-genome sequencing of an affected calf, (ii) transcriptomic data from a panel of tissues and (iii) a list of functionally ranked positional candidates pinpointed a private G to A nucleotide substitution in the LAMA3 gene that creates a premature stop codon (p.Arg2609*) in exon 60, truncating 22% of the corresponding protein. The LAMA3 gene encodes the alpha 3 subunit of the heterotrimeric laminin-332, a key constituent of the lamina lucida that is part of the skin basement membrane connecting epidermis and dermis layers. Homozygous loss-of-function mutations in this gene are known to cause severe junctional epidermolysis bullosa in human, mice, horse, sheep and dog. Overall, our data strongly support the causality of the identified gene and mutation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bovinos / Enfermedades de los Bovinos / Epidermólisis Ampollosa de la Unión / Laminina Tipo de estudio: Etiology_studies Límite: Animals Idioma: En Revista: Anim Genet Asunto de la revista: GENETICA / MEDICINA VETERINARIA Año: 2015 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bovinos / Enfermedades de los Bovinos / Epidermólisis Ampollosa de la Unión / Laminina Tipo de estudio: Etiology_studies Límite: Animals Idioma: En Revista: Anim Genet Asunto de la revista: GENETICA / MEDICINA VETERINARIA Año: 2015 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido