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Titolo:
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype
Autore:
Korge, BP; Hamm, H; Jury, CS; Traupe, H; Irvine, AD; Healy, E; Birch-Machin, M; Rees, JL; Messenger, AG; Holmes, SC; Parry, DAD; Munro, CS;
Indirizzi:
Univ Cologne, Klin & Poliklin Dermatol & Venerol, Dept Dermatol & Venerol,D-50924 Cologne, Germany Univ Cologne Cologne Germany D-50924 & Venerol,D-50924 Cologne, Germany Univ Wurzburg, Dept Dermatol, D-8700 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-8700 Dermatol, D-8700 Wurzburg, Germany So Gen Hosp, Dept Dermatol, Glasgow G51 4TF, Lanark, Scotland So Gen HospGlasgow Lanark Scotland G51 4TF gow G51 4TF, Lanark, Scotland Univ Munster, Dept Dermatol, D-4400 Munster, Germany Univ Munster Munster Germany D-4400 pt Dermatol, D-4400 Munster, Germany Royal Victoria Hosp, Dept Dermatol, Belfast BT12 6BA, Antrim, North Ireland Royal Victoria Hosp Belfast Antrim North Ireland BT12 6BA , North Ireland Univ Newcastle Upon Tyne, Dept Dermatol, Newcastle Upon Tyne NE1 7RU, Tyne& Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & Wear England NE1 7RU Royal Hallamshire Hosp, Dept Dermatol, Sheffield S10 2JF, S Yorkshire, England Royal Hallamshire Hosp Sheffield S Yorkshire England S10 2JF ire, England Royal Infirm, Dept Dermatol, Glasgow G31 2ER, Lanark, Scotland Royal Infirm Glasgow Lanark Scotland G31 2ER ow G31 2ER, Lanark, Scotland Massey Univ, Inst Fundamental Sci, Palmerston North, New Zealand Massey Univ Palmerston North New Zealand Palmerston North, New Zealand
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 4, volume: 113, anno: 1999,
pagine: 607 - 612
SICI:
0022-202X(199910)113:4<607:IONMIB>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN TYPE-I; ICHTHYOSIS BULLOSA; GENE-CLUSTER; CHROMOSOMAL LOCALIZATION; INTERMEDIATE FILAMENTS; SIEMENS; DOMAIN; 2E; EXPRESSION; DISEASE;
Keywords:
hair diseases; hair keratins; intermediate filaments; monilethrix protein structure;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Korge, BP Univ Cologne, Klin & Poliklin Dermatol & Venerol, Dept Dermatol & Venerol,D-50924 Cologne, Germany Univ Cologne Cologne Germany D-50924 ,D-50924 Cologne, Germany
Citazione:
B.P. Korge et al., "Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype", J INVES DER, 113(4), 1999, pp. 607-612

Abstract

Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6. It has been suggested that mutation in hHb1 produces a less severe phenotype. We have studied hair keratin genes and clinical features in 18 unrelated pedigrees of monilethrix from Germany, Scotland, Northern Ireland, and Portugal, in 13 of which mutations have not previously been identified. By examining the rod domains of hHb1, hHb3 and hHb6, we have identified mutations in nine of the new pedigrees, We again found the glutamine-lysine substitution (E413K) in the helix termination motif of hHb6 in two families, and in another, the corresponding E413K substitution in the hHb1 gene. In four families a similar substitution E402K was presentin a nearby residue. In addition two novel mutations within the helix initiation motif of hHb6 were found in Scottish and Portuguese cases, in whom the same highly conserved asparagine residue N114 was mutated to histidine (N114H) or aspartic acid (N114D) residues, respectively. In four other monilethrix pedigrees mutations in these domains of hHb1, hHb3, and hHb6 were clot found. The mutations identified predict a variety of possible structuralconsequences for the keratin molecule. A comparison of clinical features and severity between cases with hHb1 and hHb6 mutations does not suggest distinct effects on phenotype, with the possible exception of nail dystrophy, commoner with hHb1 defects. Other factors are required to explain the marked variation in clinical severity within and between cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 20:51:50