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PMID:7539673

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Citation

McLean, WH, Rugg, EL, Lunny, DP, Morley, SM, Lane, EB, Swensson, O, Dopping-Hepenstal, PJ, Griffiths, WA, Eady, RA and Higgins, C (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat. Genet. 9:273-8

Abstract

Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.

Links

PubMed Online version:10.1038/ng0395-273

Keywords

Amino Acid Sequence; Base Sequence; DNA/genetics; DNA Primers/genetics; Ectodermal Dysplasia/classification; Ectodermal Dysplasia/genetics; Ectodermal Dysplasia/pathology; Female; Genes, Dominant; Genotype; Heterozygote; Humans; Keratins/genetics; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Polymerase Chain Reaction

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:DRB1

involved_in

GO:0008544: epidermis development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:K1C17

involved_in

GO:0008544: epidermis development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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