Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

Article Details

Citation

Whittock NV, Eady RA, McGrath JA

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

Biochem Biophys Res Commun. 2000 Jul 21;274(1):149-52.

PubMed ID
10903910 [ View in PubMed
]
Abstract

Keratins are a family of structurally related proteins that form the intermediate filament cytoskeleton in epithelial cells. Mutations in K1 and K5 result in the autosomal dominant disorders epidermolytic hyperkeratosis/bullous congenital ichthyosiform erythroderma and epidermolysis bullosa simplex, respectively. Most disease-associated mutations are within exons encoding protein domains involved in keratin filament assembly. However, some mutations occur outside the mutation hot-spots and may perturb intermolecular interactions between keratins and other proteins, usually with milder clinical consequences. To screen the entire keratin 1 and keratin 5 genes we have characterized their intron-exon organization. The keratin 1 gene comprises 9 exons spanning approximately 5.6 kb on 12q, and the keratin 5 gene comprises 9 exons spanning approximately 6.1 kb on 12q. We have also developed a comprehensive PCR-based mutation detection strategy using primers placed on flanking introns followed by direct sequencing of the PCR products.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Keratin, type II cytoskeletal 1P04264Details
Keratin, type II cytoskeletal 5P13647Details