The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency (original) (raw)
References
Roberts, E. A new mutation in the house mouse (Mus musculus). Science74, 569 (1931). ArticleCAS Google Scholar
Novak, E.K., Hui, S.-W. & Swank, R.T. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood63, 536–544 (1984). CASPubMed Google Scholar
Lyon, M.F. & Searle, A.G. Genetic Variants and Strains of the Laboratory Mouse 274–275, 841 (Oxford University Press, Oxford, 1989). Google Scholar
Martorana, P.A. et al. The pallid mouse. A model of genetic α1-antitrypsin deficiency. Lab. Invest.68, 233–241 (1993). CASPubMed Google Scholar
Theriault, L.L. & Hurley, L.S. Ultrastructure of developing melanosomes in C57 black and pallid mice. Dev. Biol.23, 261–275 (1970). ArticleCAS Google Scholar
Novak, E.K. & Swank, R.T. Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics92, 189–204 (1979). CASPubMedPubMed Central Google Scholar
Advani, R.J. et al. Seven novel mammalian SNARE proteins localize to distinct membrane compartments. J. Biol. Chem.273, 10317–10324 (1998). ArticleCAS Google Scholar
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). ArticleCAS Google Scholar
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. Neuron21, 111–122 (1998). ArticleCAS Google Scholar
Feng, L. et al. 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. Hum. Mol. Genet.8, 323–330 (1999). ArticleCAS Google Scholar
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). ArticleCAS Google Scholar
Robinson, R.A. et al. Location of the mouse β-2 microglobulin gene B2m determined by linkage analysis. Immunogenetics14, 449–452 (1981). ArticleCAS Google Scholar
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 Newsletter95, 492–494 (1997). Google Scholar
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. Genomics42, 532–535 (1997). ArticleCAS Google Scholar
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. Genomics33, 75–84 (1996). ArticleCAS Google Scholar
Dietz H.C. et al. The skipping of constitutive exons in vivo induced by nonsense mutations. Science259, 680–683 (1993). ArticleCAS Google Scholar
Dell'Angelica, E.C., Klumperman, J., Stoorvogel, W. & Bonifacino, J.S. Association of the AP-3 adaptor complex with clathrin. Science280, 431–434 (1998). ArticleCAS Google Scholar
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). ArticleCAS Google Scholar
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). ArticleCAS Google Scholar
Dell'Angelica, E.C. et al. AP-3: an adaptor-like protein complex with ubiquitous expression. EMBO J.16, 917–928 (1997). ArticleCAS Google Scholar
Barbosa, M.D.F.S. et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature382, 262–265 (1996). ArticleCAS Google Scholar
Nagle, D.L. et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet.14, 307–311 (1996). ArticleCAS Google Scholar
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). ArticleCAS Google Scholar
Gardner, J.M. et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc. Natl Acad. Sci. USA94, 9238–9243 (1997). ArticleCAS Google Scholar
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). ArticleCAS Google Scholar
Huang, L. & Gitschier, J. A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nature Genet.17, 292–297 (1997). ArticleCAS Google Scholar
James, P., Halladay, J. & Craig, E.A. Genomic libraries and a host strain designed for highly efficient two-hybrid selection in yeast. Genetics144, 1425–1436 (1996). CASPubMedPubMed Central Google Scholar
O'Donohue, M.F., Cheutin, T., Klein, C., Kaplan, H. & Ploton, D. Mounting technique allows observation of immuno-labeled cells on plastic coverslips. Biotechniques24, 910–914 (1998). ArticleCAS Google Scholar