The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 323-330

  Feng, Lijun ^a   Seymour, Albert B ^b   Jiang, Shelley ^a   To, Agnes ^c   Peden, Andrew A ^d   Novak, Edward K ^a   Zhen, Lijie ^a   Rusiniak, Michael E ^a   Eicher, Eva M ^e   Robinson, Margaret S ^d   Gorin, Michael B ^c   Swank, Richard T ^a  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b PFIZER INC   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL MODEL; ARTICLE; CASE REPORT; CHROMOSOME 13; CONTROLLED STUDY; ENDOSOME; GENE MAPPING; GENE MUTATION; GOLGI COMPLEX; HUMAN; HYPOPIGMENTATION; LYSOSOME; MALE; MELANOSOME; MOUSE; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PRIORITY JOURNAL; PROTEIN TRANSPORT; AMINO ACID SEQUENCE; ANIMAL; C3H MOUSE; C57BL MOUSE; CELL STRAIN COS1; CHEMISTRY; CONTIG MAPPING; FEMALE; GENE; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; METHODOLOGY; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE MUTANT; MUTATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; TISSUE DISTRIBUTION;

ANIMALIA; MAMMALIA;

BETA ADAPTIN; CLATHRIN ASSEMBLY PROTEIN; CLATHRIN ASSEMBLY PROTEIN AP180; COMPLEMENTARY DNA; MEMBRANE PROTEIN; MESSENGER RNA; NERVE PROTEIN; PHOSPHOPROTEIN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ADAPTOR PROTEIN COMPLEX BETA SUBUNITS; ADAPTOR PROTEINS, VESICULAR TRANSPORT; ALBINISM, OCULOCUTANEOUS; ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; CONTIG MAPPING; COS CELLS; DNA, COMPLEMENTARY; FEMALE; GENE EXPRESSION; GENES; HYPOPIGMENTATION; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MONOMERIC CLATHRIN ASSEMBLY PROTEINS; MUTATION; NERVE TISSUE PROTEINS; NIGHT BLINDNESS; PHOSPHOPROTEINS; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; TISSUE DISTRIBUTION; TRANSCRIPTION, GENETIC;

EID: 0032587547     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.323     Document Type: Article

References (33)

1. Sarvella, P.A. (1954) Pearl, a new spontaneous coat and eye color mutation in the house mouse. J. Hered., 45, 19-20.
2. O'Brien, E.P., Novak, E.K., Zhen. L., Manly, K.F., Stephenson, D. and Swank, R.T. (1995) Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). Mamm. Genome, 6, 19-24.
3. Seymour, A.B., Yanak, B.L., O'Brien, E.P., Rusiniak, M.E., Novak, E.K., Pinto, L.H., Swank, R.T. and Gorin, M.B. (1996) An integrated genetic map of the pearl locus of mouse chromosome 13. Genome Res., 6, 538-544.
4. Sagai, T., Koide, T., Endo, M., Tanoue, K., Kikkawa, Y., Yonekawa, H., Ishiguro, S., Tamai, M., Matsuda, Y., Wakana, S. and Shiroishi, T. (1998) rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak Syndrome (HPS): genetic and physical mapping. Mamm. Genome, 9, 2-7.
5. Swank, R.T., Novak, E.K., McGarry, M.P., Rusiniak, M.E. and Feng, L. (1998) Mouse models of Hermansky-Pudlak syndrome: a review. Pigment Cell Res., 11, 60-80.
6. Balkema, G. W., Mangini, N.J. and Pinto, L.H. (1983) Discrete visual defects in pearl mutant mice. Science, 219, 1085-1087.
7. Witkop, C.J., Quevedo, W.C. Jr, Fitzpatrick, T.B. and King, R.A. (1989) In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), Albinism. The Metabolic Basis of Inherited Diseases. McGraw Hill, New York, NY, pp. 2905-2947.
8. King, R.A., Hearing, V.J., Creel, D.J. and Oetting, W.S. (1995) In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), Albinism. The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, NY, Vol. III, pp. 4353-4392.
9. Witkop, C.J., Babcock, M.N., Rao, G.H.R., Gaudier, F., Summers, C.G., Shanahan, F., Harmon, K.R., Townsend, D., Sedano, H.O., King, R.A., Cal, S.X. and White, J.G. (1990) Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol. Assoc. Med. Puerto Rico, 82, 333-339.
10. White, J.G. (1990) Structural defects in inherited and giant platelet disorders. Adv. Hum. Genet., 19, 133-234.
11. Schekman, R. and Orci, L. (1996) Coat proteins and vesicle budding. Science, 271, 1526-1533.
12. Robinson, M.S. (1997) Coats and vesicle budding. Trends Cell Biol. 7, 99-102.
13. Simpson, F., Peden, A.A., Christopoulou, L. and Robinson, M.S. (1997) Characterization of the adaptor-related protein complex, AP-3. J. Cell. Biol., 137, 835-845.
14. Dell'Angelica, E.C., Ooi, C.E. and Bonifacino, J.S. (1997) β3A-adaptin, a subunit of the adaptor-like complex AP-3. J. Biol. Chem., 272, 15078-15084.
15. Mangini, N.J., Vanable, J.W. Jr, Williams, M.A. and Pinto, L.H. (1985) The optokinetic nystagmus and ocular pigmentation of hypopigmented mouse mutants. J. Comp. Neurol., 241, 191-209.
16. Kossut, M., Aldrich, L.B., Yamada, T. and Pinto, L.H. (1990) The binding of somatostatin to the mouse retina is altered by the pearl mutation. Brain Res., 522, 235-240.
17. Williams, M.A., Pinon, L.G.P., Liden, R. and Pinto, L.H. (1990) The pearl mutation accelerates the schedule of natural cell death in the early postnatal retina. Exp. Brain Res., 82, 393-400.
18. Honing, S., Sandoval, I.V. and von Figura, K. (1998) A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. EMBO J., 17, 1304-1314.
19. Faundez, V., Horng, J.-T. and Kelly, R.B. (1998) A function for the AP3 coat complex in synaptic vesicle formation from endosomes. Cell, 93, 423-432.
20. Cowles, C.R., Odorizzi, G., Payne, G.S. and Emr, S.D. (1997) The AP-3 adaptor complex is essential for cargo-selective transport to the yeast vacuole. Cell, 91, 109-118.
21. Stepp, J.D., Huang, K. and Lemmon, S.K. (1997) The yeast adaptor protein complex, AP-3, is essential for the efficient delivery of alkaline phosphatase by the alternate pathway to the vacuole. J. Cell. Biol., 139, 1761-1774.
22. Ooi, C.E., Moreira, J.E., Dell'Angelica, E.C. Poy, G., Wassarman, D.A. and Bonifacino, J.S. (1997) Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J., 16, 4508-4518.
23. Kantheti, P., Qiao, X., Diaz, M.E., Peden, A.P., Meyer, G.E., Carskadon, S.L., Kapfhamer, D., Sufalko, D., Robinson, M.S., Noebels, J.L. and Burmeister, M. (1998) Mutation of the AP-3 delta subunit in the mocha mouse links endosomal cargo transport to storage deficiency in platelets, melanosomes and neurotransmitter vesicles. Neuron, 21, 111-122.
24. Raymond, C.K., Robers, C.J., Moore, K.E., Howald, I. and Stevens, T.H. (1992) Biogenesis of the vacuole in Saccharomyres cerevisiae. Int. Rev. Cytol., 139, 59-120.
25. Stack, J.H., Horazdovsky, B. and Emr, S.D. (1995) Receptor-mediated protein sorting to the vacuole in yeast: roles for a protein kinase, a lipid kinase and GTP-binding proteins. Annu. Rev. Cell Dev. Biol., 11, 1-33.
26. Hazelwood, S., Shotelersuk, V. Wildenberg, S.C., Chen, D., Iwata, I., Kaiser-Kupfer, M.I., White, J.G., King, R.A. and Gahl, W.A. (1997) Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am. J. Hum. Genet., 61, 1088-1094.
27. Oh, J., Ho, L., Ala-Mello,. S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J.P., Fong, C.-T., Green, J.S., Heon, E., Legius, E., Levin, A.V., Nieuwenhuis, H.K., Pinckers, A., Tamura, N., Whiteford, M.L., Yamasaki, H. and Spritz, R.A. (1998) Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am. J. Hum. Genet., 62, 593-598.
28. Oh, J., Bailin, T., Fukai, K., Feng, G.H., Ho, L., Mao, J.-I., Frenk, E., Tamura, N. and Spritz, R.A. (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet., 14, 300-306.
29. Feng, G.H., Bailin, T., Oh, J. and Spritz, R.A. (1997) Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum. Mol. Genet., 6, 793-797.
30. Gardner, J.M., Wildenberg, S.C., Keiper, N.M., Novak, E.K., Rusiniak, M.E., Swank, R.T., Puri, N., Finger, J.N., Hagiwara, N., Lehman, A.L., Gales, T.L., Bayer, M., King, R.A. and Brilliant, M.N. (1997) The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc. Natl Acad. Sci. USA, 94, 9238-9243.
31. Ausubel, F.M., Brent, R., Kingston, R.E., Moor, D.D., Seidman, J.G., Smith, J.A. and Struhl, K. (1997) Current Protocols in Molecular Biology. John Wiley & Sons, New York, NY, Vol. 4.9.
32. Kere, J., Nagaraja, R., Mumm, S., Ciccodiola, A., D'Urso, M. and Schlessinger, D. (1992) Mapping human chromosomes by walking with sequence-tagged sites from end fragments or yeast artificial chromosome inserts. Genomics, 14, 241-248.
33. Feinberg, A.P. and Vogelstein, B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem., 132, 6-13.