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Gene ; 511(1): 62-5, 2012 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-22995344


Keratin-associated proteins (KAPs) are major structural components of hair and wool fibres, and play a critical role in determining the properties of the fibre. While over 100 KAP genes that have been grouped into 27 KAP families have been identified in mammals, most homologues remain unidentified in sheep. A BLAST search of the Ovine Genome Assembly v2.0 using a human KRTAP24-1 coding sequence (NM_001085455), identified a putative ovine KAP24-1 gene clustered with six other known KAP genes on chromosome 1. The KAP24-1 gene was amplified from the genomic DNA of 260 New Zealand Romney-cross sheep and stem-loop conformational polymorphism (SLCP) analysis of the amplicons revealed four unique banding-patterns, representing four different DNA sequences. These sequences were not closely homologous with any known ovine KRTAP and the highest similarity was with KRTAP24-1 sequences from humans, cattle, dog, pig, Sumatran orangutan and northern white-cheeked gibbon. This suggests that the sequences were allelic variants of ovine KRTAP24-1. Among these four sequences, seven nucleotide substitutions in the coding region were identified and four of the substitutions were non-synonymous. The putative ovine KAP24-1 polypeptide consisted of 252 amino acids. While probably belonging to the high-sulphur KAP group, the polypeptide had a moderate level of cysteine, but a high content of serine and tyrosine. The polypeptide possesses two putative N-glycosylation sites and a number of residues that may be O-glycosylated and/or phosphorylated.

Queratinas Específicas do Cabelo/genética , Carneiro Doméstico/genética , Alelos , Sequência de Aminoácidos , Animais , Sequência de Bases , Bovinos , Mapeamento Cromossômico , Primers do DNA/genética , Cães , Humanos , Hylobates , Queratinas Específicas do Cabelo/química , Queratinas Específicas do Cabelo/classificação , Dados de Sequência Molecular , Família Multigênica , Polimorfismo Genético , Pongo abelii , Homologia de Sequência de Aminoácidos , Especificidade da Espécie , Suínos
Exp Dermatol ; 20(7): 582-8, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21554405


Keratin IF (KRT) and keratin-associated protein genes encode the majority of wool and hair proteins. We have identified cDNA sequences representing nine novel sheep KRT genes, increasing the known active genes from eight to 17, a number comparable to that in the human. However, the absence of KRT37 in the type I family and the discovery of type II KRT87 in sheep exemplify species-specific compositional differences in hair KRT genes. Phylogenetic analysis of hair KRT genes within type I and type II families in the sheep, cattle and human genomes revealed a high degree of consistency in their sequence conservation and grouping. However, there were differences in the fibre compartmentalisation and keratinisation zones for the expression of six ovine KRT genes compared with their human orthologs. Transcripts of three genes (KRT40, KRT82 and KRT84) were only present in the fibre cuticle. KRT32, KRT35 and KRT85 were expressed in both the cuticle and the fibre cortex. The remaining 11 genes (KRT31, KRT33A, KRT33B, KRT34, KRT36, KRT38-39, KRT81, KRT83 and KRT86-87) were expressed only in the cortex. Species-specific differences in the expressed keratin gene sets, their relative expression levels and compartmentalisation are discussed in the context of their underlying roles in wool and hair developmental programmes and the distinctive characteristics of the fibres produced.

Expressão Gênica/genética , Queratinas/classificação , Queratinas/genética , Ovinos/genética , Ovinos/metabolismo , Animais , Sequência de Bases/genética , Bovinos , DNA Complementar/genética , Folículo Piloso/metabolismo , Humanos , Queratinócitos/metabolismo , Queratinas Específicas do Cabelo/classificação , Queratinas Específicas do Cabelo/genética , Queratinas Tipo I/classificação , Queratinas Tipo I/genética , Queratinas Tipo II/classificação , Queratinas Tipo II/genética , Anotação de Sequência Molecular , Dados de Sequência Molecular , Filogenia , Homologia de Sequência do Ácido Nucleico , Pele/metabolismo , Lã/química , Lã/crescimento & desenvolvimento
Exp Cell Res ; 313(10): 2010-20, 2007 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-17428470


The human keratin family comprises 54 members, 28 type I and 26 type II. Out of the 28 type I keratins, 17 are epithelial and 11 are hair keratins. Similarly, the 26 type II members comprise 20 epithelial and 6 hair keratins. As, however, 9 out of the 37 epithelial keratins are specifically expressed in the hair follicle, the total number of hair follicle-specific keratins (26) almost equals that of those expressed in the various forms of epithelia (28). Up to now, more than half of the latter have been found to be involved in inherited diseases, with mutated type I and type II members being roughly equally causal. In contrast, out of the 26 hair follicle-specific keratins only 5 have, at present, been associated with inherited hair disorders, while one keratin merely acts as a risk factor. In addition, all hair follicle-specific keratins involved in pathologies are type II keratins. Here we provide a detailed description of the respective hair diseases which are either due to mutations in hair keratins (monilethrix, ectodermal dysplasia of hair and nail type) or hair follicle-specific epithelial keratins (two mouse models, RCO3 and Ca(Rin) as well as pseudofolliculitis barbae).

Predisposição Genética para Doença/genética , Doenças do Cabelo/genética , Doenças do Cabelo/metabolismo , Folículo Piloso/metabolismo , Queratinas Específicas do Cabelo/genética , Queratinas Específicas do Cabelo/metabolismo , Animais , Mapeamento Cromossômico , Grupos de Populações Continentais , Modelos Animais de Doenças , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Doenças do Cabelo/fisiopatologia , Folículo Piloso/patologia , Folículo Piloso/fisiopatologia , Humanos , Queratinas Específicas do Cabelo/classificação , Mutação/genética