The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

Nature Genetics

Volumn 23, Issue 3, 1999, Pages 329-332

  Huang, Liping ^a,b   Kuo, Yien Ming ^b   Gitschier, Jane ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; SYNTAXIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENETIC CODE; IMMUNOFLUORESCENCE TEST; MOLECULAR CLONING; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; THROMBOCYTE DISORDER; YEAST;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES; CLONING, MOLECULAR; FLUORESCENT ANTIBODY TECHNIQUE; INTRACELLULAR MEMBRANES; LECTINS; MEMBRANE FUSION; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PLATELET STORAGE POOL DEFICIENCY; PRECIPITIN TESTS; PROTEIN BINDING; QA-SNARE PROTEINS; RNA, MESSENGER; TWO-HYBRID SYSTEM TECHNIQUES;

ANIMALIA; RODENTIA;

EID: 0032743997     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/15507     Document Type: Article

References (28)

1. Roberts, E. A new mutation in the house mouse (Mus musculus). Science 74, 569 (1931).
2. Novak, E.K., Hui, S.-W. & Swank, R.T. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63, 536-544 (1984).
3. Lyon, M.F. & Searle, A.G. Genetic Variants and Strains of the Laboratory Mouse 274-275, 841 (Oxford University Press, Oxford, 1989).
4. 1-antitrypsin deficiency. Lab. Invest. 68, 233-241 (1993).
5. Theriault, L.L. & Hurley, L.S. Ultrastructure of developing melanosomes in C57 black and pallid mice. Dev. Biol. 23, 261-275 (1970).
6. Novak, E.K. & Swank, R.T. Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics 92, 189-204 (1979).
7. Advani, R.J. et al. Seven novel mammalian SNARE proteins localize to distinct membrane compartments. J. Biol. Chem. 273, 10317-10324 (1998).
8. Prekeris, R., Klumperman, J., Chen, Y.A. & Scheller, R.H. Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicilar recycling endosomes. J. Cell Biol. 143, 957-971 (1998).
9. Kantheti, P. et al. Mutation in AP-3 δ in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21, 111-122 (1998).
10. Feng, L. et al. The β3A subunit gene (ApBb1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum. Mol. Genet 8, 323-330 (1999).
11. White, R.A. et al. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nature Genet. 2, 80-83 (1992).
12. Robinson, R.A. et al. location of the mouse β-2 microglobulin gene B2m determined by linkage analysis. Immunogenetics 14, 449-452 (1981).
13. White, R.A., Dowler, L.L., Hummel, G.S. & Adkison, L.R. Exclusion of Epb4.2 as a candidate for the mouse mutant pallid. Mouse Newsletter 95, 492-494 (1997).
14. Gwynn, B., Korsgren, C., Cohen, C.M., Ciciotte, S.L. & Peters, L.L. The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Genomics 42, 532-535 (1997).
15. Zuberi, A.R., Nguyen, H.Q., Auman, H.J., Taylor, B.A. & Roopenian, D.C. A genetic linkage map of mouse chromosome 2 extending from thrombospondin to paired box gene 1, including the H3 minor histocompatibility complex. Genomia 33, 75-84 (1996).
16. Dietz H.C. et al. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259, 680-683 (1993).
17. Dell'Angelica, E.C., Klumperman, J., Stoorvogel, W. & Bonifacino, J.S. Association of the AP-3 adaptor complex with clathrin. Science 280, 431-434 (1998).
18. Ooi, C.E. et al. Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J. 16, 4508-4518 (1997).
19. Simpson, F., Peden, A.A., Christopoulou, P.L. & Robinson, M.S. Characterization of the adaptor-related protein complex, AP-3. J. Cell Biol. 137, 835-845 (1997).
20. Dell'Angelica, E.C. et al. AP-3: an adaptor-like protein complex with ubiquitous expression. EMBO J. 16, 917-928 (1997).
21. Barbosa, M.D.F.S. et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382, 262-265 (1996).
22. Nagle, D.L. et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet. 14, 307-311 (1996).
23. Feng, F.H., Bailin, T., Oh, J. & Spritz, R.A. Mouse pale ear (ep) is homologous to human Hermanshy-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum. Mol. Genet. 6, 793-797 (1997).
24. Gardner, J.M. et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc. Natl Acad. Sci. USA 94, 9238-9243 (1997).
25. Oh, J. et al. 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 (1998).
26. Huang, L. & Gitschier, J. A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nature Genet. 17, 292-297 (1997).
27. James, P., Halladay, J. & Craig, E.A. Genomic libraries and a host strain designed for highly efficient two-hybrid selection in yeast. Genetics 144, 1425-1436 (1996).
28. O'Donohue, M.F., Cheutin, T., Klein, C., Kaplan, H. & Ploton, D. Mounting technique allows observation of immune-labeled cells on plastic coverslips. Biotechniques 24, 910-914 (1998).