[1] Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet , 1995, 10(1): 13-19. [2] Fukuda N, Naito S, Masukawa D, Kaneda M, Miyamoto H, Abe T, Yamashita Y, Endo I, Nakamura F, Goshima Y. Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. Brain Res , 2015, 1602: 62-74. [3] Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci USA , 1996, 93(17): 9055-9060. [4] Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet , 1999, 23(1): 108-112. [5] Samaraweera P, Shen B, Newton JM, Barsh GS, Orlow SJ. The mouse ocular albinism 1 gene product is an endolysosomal protein. Exp Eye Res , 2001, 72(3): 319-329. [6] Newton JM, Orlow SJ, Barsh GS. Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. Genomics , 1996, 37(2): 219-225. [7] Surace EM, Angeletti B, Ballabio A, Marigo V. Expression pattern of the ocular albinism type 1 ( Oa1 ) gene in the murine retinal pigment epithelium. Invest Ophthalmol Vis Sci , 2000, 41(13): 4333-4337. [8] Vetrini F, Auricchio A, Du JY, Angeletti B, Fisher DE, Ballabio A., Marigo V. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Mol Cell Biol , 2004, 24(15): 6550-6559. [9] Schiaffino MV, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Pigment Cell Res , 2005, 18(4): 227-233. [10] Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The metabolic and molecular bases of inherited disease (8th ed). New York, Montreal: McGraw-Hill, 2001. [11] Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology , 1980, 4(3): 243-254. [12] Wong L, O'Donnell FE, Richard Green W. Giant pigment granules in the retinal pigment epithelium of a fetus with X-linked ocular albinism. Ophthalmic Paediatr Genet , 1983, 2(1): 47-65. [13] O'Donnell Jr FE, Hambrick GW, Richard Green W, Iliff WJ, Stone DL. X-linked ocular albinism: an oculocutaneous macromelanosomal disorder. Arch Ophthalmol , 1976, 94(11): 1883-1892. [14] Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DAM, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet , 1998, 62(4): 800-809. [15] Schiaffino MV, Dellambra E, Cortese K, Baschirotto C, Bondanza S, Clementi M, Nucci P, Ballabio A, Tacchetti C, De Luca M. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Hum Gene Ther , 2002, 13(8): 947-957. [16] Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC, Schiaffino MV. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet , 2008, 17(22): 3487-3501. [17] Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 ( OA1 ) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci , 2005, 46(12): 4358-4364. [18] Giordano F, Bonetti C, Surace EM, Marigo V, Raposo G. The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. Hum Mol Genet , 2009, 18(23): 4530-4545. [19] Piccirillo R, Palmisano I, Innamorati G, Bagnato P, Altimare D, Schiaffino MV. An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. J Cell Sci , 2006, 119(10): 2003-2014. [20] Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto KI, Valencia J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt DF, Appella E. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. J Proteome Res , 2003, 2(1): 69-79. [21] Falletta P, Bagnato P, Bono M, Monticone M, Schiaffino MV, Bennett DC, Goding CR, Tacchetti C, Valetti C. Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression. Pigment Cell Melanoma Res , 2014, 27(4): 565-579. [22] Fitzpatrick TB, Breathnach AS. The epidermal melanin unit system. Dermatol Wochenschr , 1963, 147: 481-489. [23] Slominski A, Wortsman J, Plonka PM, Schallreuter KU, Paus R, Tobin DJ. Hair follicle pigmentation. J Invest Dermatol , 2005, 124(1): 13-21. [24] Cui J, Shen LY, Wang GC. Role of hair follicles in the repigmentation of vitiligo. J Invest Dermatol , 1991, 97(3): 410-416. [25] Schiaffino MV. Signaling pathways in melanosome biogenesis and pathology. Int J Biochem Cell Biol , 2010, 42(7): 1094-1104. [26] Vachtenheim J, Borovanský J. “Transcription physiology” of pigment formation in melanocytes: central role of MITF. Exp Dermatol , 2010, 19(7): 617-627. [27] Steingrímsson E, Copeland NG, Jenkins NA. Melanocytes and the Microphthalmia transcription factor network. Annu Rev Genet , 2004, 38(1): 365-411. [28] Burgoyne T, Jolly R, Martin-Martin B, Seabra MC, Piccirillo R, Schiaffino MV, Futter CE. Expression of OA1 limits the fusion of a subset of MVBs with lysosomes-a mechanism potentially involved in the initial biogenesis of melanosomes. J Cell Sci , 2013, 126(22): 5143-5152. (责任编委: 蒋思文) |