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Titolo:
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins
Autore:
Toyofuku, K; Wada, I; Valencia, JC; Kushimoto, T; Ferrans, VJ; Hearing, VJ;
Indirizzi:
NCI, Cell Biol Lab, NIH, Bethesda, MD 20892 USA NCI Bethesda MD USA 20892NCI, Cell Biol Lab, NIH, Bethesda, MD 20892 USA Sapporo Med Univ, Dept Biochem, Sapporo, Hokkaido, Japan Sapporo Med UnivSapporo Hokkaido Japan iochem, Sapporo, Hokkaido, Japan NHLBI, Pathol Sect, NIH, Bethesda, MD 20892 USA NHLBI Bethesda MD USA 20892 LBI, Pathol Sect, NIH, Bethesda, MD 20892 USA
Titolo Testata:
FASEB JOURNAL
fascicolo: 12, volume: 15, anno: 2001,
pagine: 2149 - 2161
SICI:
0892-6638(200110)15:12<2149:OAT1A3>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
DHICA OXIDASE ACTIVITY; ENDOPLASMIC-RETICULUM; MAMMALIAN TYROSINASE; ULTRASTRUCTURAL-LOCALIZATION; BINDING-SPECIFICITY; MELANOGENIC COMPLEX; MEMBRANE-PROTEINS; MELANIN FORMATION; MOLECULAR-BASIS; B-16 MELANOMA;
Keywords:
albinism; chaperones; pigmentation; melanogenesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
66
Recensione:
Indirizzi per estratti:
Indirizzo: Hearing, VJ NCI, Cell Biol Lab, NIH, Bldg 37,Room 1B25, Bethesda, MD 20892USA NCI Bldg 37,Room 1B25 Bethesda MD USA 20892 esda, MD 20892 USA
Citazione:
K. Toyofuku et al., "Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins", FASEB J, 15(12), 2001, pp. 2149-2161

Abstract

Various types of oculocutaneous albinism (OCA) are associated with reducedpigmentation in the skin, hair, and eyes that results from mutations in genes involved in melanin synthesis. Immortal mouse melanocyte lines (melan-a, melan-b, and melan-c) provide opportune models with which to investigate the etiology of two different types of OCA (types I and III), which arise from mutations in Tyr and Tyrp1, respectively. We compared intracellular processing, sorting, and degradation of tyrosinase and Tyrp1, and the effects on their catalytic function and melanin synthesis, in these wild-type and mutant melanocytes. A mutation in either Tyr or Tyrp1 increased the time of association of tyrosinase and Tyrp1 with calnexin and Bip, which in turn resulted in the retention of these mutant products in the ER. A mutation in either gene selectively enhanced the duration and efficiency of chaperone interactions (even with the wild-type protein in the mutant melanocytes) and markedly slowed their transport to melanosomes. These results show that OCA1 and OCA3 are (in some cases, at least) ER retention diseases wherein a mutation in one melanogenic protein affects the maturation and stability of the other in the melanogenic pathway.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 23:41:05