Cloning of the murine homolog of the ocular albinism type l (oa1) gene: sequence, genomic structure, and expression analysis in pigment cells

Genome Research

Volumn 6, Issue 9, 1996, Pages 880-885

  Bassi, Maria Teresa ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EYE PROTEIN; GPR143 PROTEIN, HUMAN; MEMBRANE PROTEIN; PRIMER DNA;

AMINO ACID SEQUENCE; ANIMAL; BIOSYNTHESIS; CHEMISTRY; COMPARATIVE STUDY; EXPERIMENTAL MELANOMA; GENETICS; HUMAN; LETTER; MELANOCYTE; METABOLISM; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE HOMOLOGY; SKIN;

ALBINISM, OCULAR; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DNA PRIMERS; EYE PROTEINS; HUMANS; MELANOCYTES; MELANOMA, EXPERIMENTAL; MEMBRANE GLYCOPROTEINS; MICE; MOLECULAR SEQUENCE DATA; PIGMENT EPITHELIUM OF EYE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE HOMOLOGY, AMINO ACID; SKIN;

EID: 0030226673     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.6.9.880     Document Type: Article

References (19)

1. Bassi, M.T., M.V. Schiaffino, A. Renieri, F. De Nigris, L. Galli, M. Bruttini, M. Gebbia, A.A.B. Bergen, R.A. Lewis, and A. Ballabio. 1995. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genet. 10: 13-19.
2. Bennett, D.C. and E.V. Sviderskaya. 1996. Advances in immortalization of cultured melanocytes and melanoblasts. In The pigmentary system and its disorders (ed. J.J. Nordlund, R.E. Boissy, V.J. Hearing, R.A. King, andJ.P. Ortonne). Oxford University Press, New York, NY.
3. Bennett, D.C., PJ. Cooper, and I.R. Hart. 1987. A line of non-tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth. Int. ]. Cancer 39: 414-418.
4. Dinulos, M.B., M.T. Bassi, E.I. Rugarli, V. Chapman, A. Ballabio, and C.M. Disteche. 1996. A new region of conservation is defined between human and mouse X chromosomes. Genomics 35: 244-247.
5. Easty, D.J., B.A. Guthrie, K. Maung, CJ. Farr, R.A. Lindberg, R.J. Toso, M. Herlyn, and D.C. Bennett. 1995. Protein B61 as a new growth factor: Expression of B61 and upregulation of its receptor epithelial cell kinase during melanoma progression. Cancer Res. 55: 2528-2532.
6. Frohman, M.A., M.K. Dush, and G.R. Martin. 1988. Rapid production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sei. 85: 8998-9002.
7. Garner, A. and B.S. Jay. 1980. Macromelanosomes in X-linked ocular albinism. Histopathology 4: 243-254.
8. King, R.A., V.J. Hearing, D.J. Creel, and W.S. Getting. 1995. Albinism. In The metabolic and molecular bases of inherited disease (ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle), pp. 4353-4392. McGraw-Hill, Inc., New York, NY.
9. Kyte, J.P. and R.F. Doolittle. 1982. A simple method for displaying the hydropathic character of a protein. J. mol. Biol. 157: 105-132.
10. Marck, C. 1988. "DNA Strider": A "C" program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers. Nucleic Acids Res. 16: 1829-1836.
11. O'Donnell, F.E., Jr., G.W. Hambrick Jr., W.R. Green, W.J. Iliff, and D.L. Stone. 1976. X-linked ocular albinism: An oculocutaneous macromelanosomal disorder. Arch. Ophthal. 94: 1883-1892.
12. Palmer, S., J. Perry, and A. Ashworth. 1995. A contravention of Ohno's law in mice. Nature Genet. 10: 472-476.
13. Rugarli, E., D.A. Adler, G. Borsani, K. Tsuchiya, B. Franco, X. Hauge, C. Disteche, V. Chapman, and A. Ballabio. 1995. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nature Genet. 10:466-471.
14. Sambrook, J., E.F. Fritsch, and T. Maniatis. 1989. Molecular cloning: A laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
15. Schiaffino, M.V., M.T. Bassi, L. Galli, A. Renieri, M. Bruttini, F. De Nigris, A.A.B. Bergen, S.J. Charles, J.R.W. Yates, A. Meindl, R.A. Lewis, R.A. King, and A. Ballabio. 1995. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum. Mol. Genet. 4: 2319-2325.
16. Schiaffino, M.V., C. Baschirotto, G. Pellegrini, S. Montalti, C. Tacchetti, M. De Luca, and A. Ballabio. 1996. The Ocular Albinism type l (OA1) gene product is a membrane glycoprotein localized to melanosomes. Proc. Natl. Acad. Sei. 93: 9055-9060.
17. Sviderskaya, E.V., D.J. Easty, S.P. Hill, and D.C. Bennett. 1996. Differential gene expression in immortal melanocytes, melanoblasts and melanoblast precursors. Pigment Cell Res. 9: (in press).
18. Wong, L., F.E. O'Donnell Jr., and W.R. Green. 1983. Giant pigment granules in the retinal pigment epithelium of a fetus with X-linked ocular albinism. Ophthalmic Paediatr. Genet. 2: 47-65.
19. Yoshiike, T., M. Manabe, M. Hayakawa, and H. Ogawa. 1985. Macromelanosomes in X-linked ocular albinism (XLOA). Acta Derm. Venereal (Stockholm) 65: 66-69.