A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire.
J Invest Dermatol
; 124(6): 1170-6, 2005 Jun.
Article
em En
| MEDLINE
| ID: mdl-15955091
ABSTRACT
A mechanobullous skin disorder was identified in the progeny of a 3-y-old Friesian-Jersey crossbred bull. The condition presented as loss of skin and mucosa from contact areas and inflammation. Examination of skin samples under light microscopy revealed separation of the epidermis from the dermis. Electron microscopic analysis refined the site of cleavage to above the basement membrane involving lysis of basal keratinocytes. These observations were consistent with the simplex form of epidermolysis bullosa (EB) in humans. Candidate genes based on human gene mutations were assessed, resulting in keratin 5 being identified as the most likely candidate gene. The sequence of bovine keratin 5 was established and sequencing led to identification of a G to A substitution in all affected animals. This mutation leads to an amino acid change of glutamic acid to lysine in the final E (478) of the KLLEGE motif of the protein. The sire carried a de novo mutation and was mosaic, explaining his asymptomatic status and the less than expected frequency of affected offspring. Remarkably, the same mutation has been previously described in EB simplex in humans.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças dos Bovinos
/
Epidermólise Bolhosa Simples
/
Queratinas
/
Mosaicismo
/
Mutação
Limite:
Animals
Idioma:
En
Revista:
J Invest Dermatol
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Nova Zelândia
País de publicação:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA