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Titolo:
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
Autore:
Sprecher, E; Ishida-Yamamoto, A; Becker, OM; Marekov, L; Miller, CJ; Steinert, PM; Nelder, K; Richard, G;
Indirizzi:
Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol,Philadelphia, PA 19107 USA Thomas Jefferson Univ Philadelphia PA USA 19107hiladelphia, PA 19107 USA Thomas Jefferson Univ, Jefferson Med Coll, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA Thomas Jefferson Univ Philadelphia PA USA 19107 hiladelphia, PA 19107 USA Asahikawa Med Coll, Dept Dermatol, Asahikawa, Hokkaido 078, Japan Asahikawa Med Coll Asahikawa Hokkaido Japan 078 kawa, Hokkaido 078, Japan Tel Aviv Univ, Sch Chem, IL-69978 Tel Aviv, Israel Tel Aviv Univ Tel Aviv Israel IL-69978 h Chem, IL-69978 Tel Aviv, Israel NIAMS, Skin Biol Lab, NIH, Bethesda, MD USA NIAMS Bethesda MD USANIAMS, Skin Biol Lab, NIH, Bethesda, MD USA Texas Tech Univ, Dept Dermatol, Lubbock, TX 79409 USA Texas Tech Univ Lubbock TX USA 79409 Dept Dermatol, Lubbock, TX 79409 USA
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 4, volume: 116, anno: 2001,
pagine: 511 - 519
SICI:
0022-202X(200104)116:4<511:EFNFOT>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORNIFIED CELL-ENVELOPE; INTERMEDIATE FILAMENTS; CURTH-MACKLIN; PROTEINS; LORICRIN; DYNAMICS; SKIN; IDENTIFICATION; KERATODERMA; EXPRESSION;
Keywords:
cornified cell envelope; desmosomes; keratin intermediate filaments; loricrin; palmoplantar keratoderma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Richard, G Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol,233 S 10th St,BLSB Suite 409, Philadelphia, PA 19107 USA Thomas Jefferson Univ 233 S 10th St,BLSB Suite 409 Philadelphia PA USA 19107
Citazione:
E. Sprecher et al., "Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix", J INVES DER, 116(4), 2001, pp. 511-519

Abstract

Unraveling the molecular basis of inherited disorders of epithelial fragility has led to understanding of the complex structure and function of keratin intermediate filaments. Keratins are organized as a central alpha -helical rod domain flanked by nonhelical, variable end domains. Pathogenic mutations in 19 different keratin genes have been identified in sequences corresponding to conserved regions at the beginning and end of the rod. These areas have been recognized as zones of overlap between aligned keratin proteins and are thought to be crucial for proper assembly of keratin intermediatefilaments. Consequently, all keratin disorders of skin, hair, nail, and mucous membranes caused by mutations in rod domain sequences are characterized by perinuclear clumping of fragmented keratin intermediate filaments, thus compromising mechanical strength and cell integrity. We report here the first mutation in a keratin gene (KRT1) that affects the variable tail domain (V2) and results in a profoundly different abnormality of the cytoskeletal architecture leading to a severe form of epidermal hyperkeratosis known as ichthyosis hystrix Curth-Macklin, Structural analyses disclosed a failurein keratin intermediate filament bundling, retraction of the cytoskeleton from the nucleus, and failed translocation of loricrin to the desmosomal plaques. These data provide the first in vivo evidence for the crucial role of a keratin tail domain in supramolecular keratin intermediate filament organization and barrier formation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 14:43:23