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Titolo:
THE OCULAR ALBINISM TYPE-1 GENE-PRODUCT IS A MEMBRANE GLYCOPROTEIN LOCALIZED TO MELANOSOMES
Autore:
SCHIAFFINO MV; BASCHIROTTO C; PELLEGRINI G; MONTALTI S; TACCHETTI C; DELUCA M; BALLABIO A;
Indirizzi:
TELETHON INST GENET & MED,SAN RAFFAELE BIOMED SCI PK,VIA OLGETTINA 58I-20132 MILAN ITALY IST NAZL RIC CANC,ADV BIOTECHNOL CTR I-16100 GENOA ITALY IST DEMOPAT IMMACOLATA I-00100 ROME ITALY UNIV GENOA,SCH MED,LAB MOL EMBRIOL,INST ANAT I-16100 GENOA ITALY UNIV SIENA,DEPT MOL BIOL I-53100 SIENA ITALY
Titolo Testata:
Proceedings of the National Academy of Sciences of the United Statesof America
fascicolo: 17, volume: 93, anno: 1996,
pagine: 9055 - 9060
SICI:
0027-8424(1996)93:17<9055:TOATGI>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
TYROSINASE-RELATED PROTEIN-1; II OCULOCUTANEOUS ALBINISM; LOCUS PROTEIN; DOPACHROME TAUTOMERASE; IDENTIFICATION; PIGMENTATION; EXPRESSION; CELLS; MACROMELANOSOMES; KERATINOCYTES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
M.V. Schiaffino et al., "THE OCULAR ALBINISM TYPE-1 GENE-PRODUCT IS A MEMBRANE GLYCOPROTEIN LOCALIZED TO MELANOSOMES", Proceedings of the National Academy of Sciences of the United Statesof America, 93(17), 1996, pp. 9055-9060

Abstract

Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation. Ultrastructural examination of skin melanocytes and of the retinal pigment epithelium reveals the presence of macromelanosomes, suggesting a defect in melanosome biogenesis. The gene responsible for OA1 is exclusively expressed in pigment cells and encodes a predicted protein of 404 aa displaying several putative transmembrane domains andsharing no similarities with previously identified molecules. Using polyclonal antibodies we have identified the endogenous OA1 protein in retinal pigment epithelial cells, in normal human melanocytes and in various melanoma cell lines. Two forms of the OA1 protein were identified by Western analysis, a 60-kDa glycoprotein and a doublet of 48 and 45 kDa probably corresponding to unglycosylated precursor polypeptides. Upon subcellular fractionation and phase separation with the nonionic detergent Triton X-114, the OA1 protein segregated into the melanosome-rich fraction and behaved as an authentic integral membrane protein. Immunofluorescence and immunogold analyses on normal human melanocytes confirmed the melanosomal membrane localization of the endogenous OA1 protein, consistent with its possible involvement in melanosome biogenesis. The identification of a novel melanosomal membrane protein involved in a human disease will provide insights into the mechanisms that control the cell-specific pathways of subcellular morphogenesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 03:08:55