Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 793-797

  Feng, Guo Hong ^a   Bailin, Tu ^a   Oh, Jangsuk ^a   Spritz, Richard A ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHEDIAK HIGASHI SYNDROME; CHROMOSOME 10Q; CHROMOSOME 19; CONTROLLED STUDY; GENE MUTATION; HUMAN; INTRON; MOUSE; MOUSE MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SYNTENY;

ANIMALIA; MURINAE;

EID: 0030954169     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.793     Document Type: Article

References (48)

1. Witkop, C.J., Babcock, M.N., Rao, G.H.R., Gaudier, F., Summers, C.G., Shanahan, G., 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. P. Rico, 82, 333-339.
2. Hermansky, F. and Pudlak, P. (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood, 14, 162-169.
3. Frenk, E. and Lattion, F. (1982) The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. J. Investig. Dermatol., 78, 141-143.
4. Witkop, C.J., Jr., Quevedo, W.C., Fitzpatrick, T.B., and King, R.A. (1989) In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, pp. 2905-2947.
5. Schallreuter, K.U., Frenk, E., Wolfe, L.S., Witkop, C.J. and Wood, J.M. (1993) Hermansky-Pudlak syndrome in a Swiss population. Dermatology, 187, 248-256.
6. White, J.G., Edson, J.R., Desnick, S.J. and Witkop, C.J., Jr. (1971) Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am. J. Pathol., 63, 319-332.
7. Hardisty, R.M., Mills, C.B. and Ketsa-Ard, K. (1972) The platelet defect associated with albinism. Br. J. Haematol., 23, 679-692.
8. Holmsen, H. and Weiss, H.J. (1972) Secretable storage pool in platelets. Blood, 39, 197-209.
9. Logan, L.J., Rapaport, S.I. and Maher, I. (1979) Albinism and abnormal platelet function. N. Engl. J. Med., 284, 1340-1345.
10. White, J.G., Witkop, C.J. and Gerritson, S.M.(1973) The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages. Am. J. Pathol., 70, 329-344.
11. Harmon, K.R., Witkop, C.J., White, J.G., King, R.A., Peterson, M., Moore, D., Tashjian, J., Marinelli, W.A. and Bitterman, P.B. (1994) Pathogenesis of pulmonary fibrosis: Platelet derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J. Lab. Clin. Med., 123, 617-627.
12. Jones, K.L., Stewart, R.M., Fowler, M., Fukuda, M., and Holcombe, R.F. (1992) Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. Clin. Immunol. Immunopath., 65, 219-226.
13. Burkhardt, J.K., Wiebel, F.A., Hester, S. and Argon, Y. (1993) The giant organelles in Beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. J. Exp. Med., 178, 1845-1856.
14. Holcombe, R.F., Jones, K.L. and Stewart, R.M. (1994) Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature. Immunodeficiency, 5, 131-140.
15. Zhao, H., Boissy, Y.L., Abdel-Malek, Z., King, R.A., Nordlund, J.J. and Boissy, R.E. (1994) On the analysis of the pathophysiology of Chediak-Higashi syndrome. Lab. Investig., 71, 25-34.
16. Silvers, W.K. (1979) The Coat Colors of Mice. Springer-Verlag, New York.
17. Lyon, M. and Searle, A.G. (1989) Genetic Variants and Strains of the Laboratory Mouse. Oxford University Press, Oxford, UK.
18. Bennett, D. (1993) Genetics, development, and malignancy of melanocytes. Int. Rev. Cytol., 146, 191-260.
19. 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.
20. Bailin, T., Oh, J., Feng, G.H., Fukai, K., and Spritz, R.A. (1997) Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J. Investig. Dermatol., in press.
21. Fukai, K., Oh, J., Frenk, E., Almodovar, C. and Spritz, R.A. (1995) Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum. Mol. Genet., 4, 1665-1669.
22. Wildenberg, S.C., Oetting, W.S., Almodovar, C., Krumwiede, M., White, J.G. and King, R.A. (1995) A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am. J. Hum. Genet., 57, 755-765.
23. Poirer, C. and J.-L. Guenet. (1994) Mouse chromosome 19. Mammalian Genome, 5, S266-S275.
24. O'Brien, E.P., Novak, E.K., Keller, S.A., Poirier, C., Guénet, J.-L. and Swank, R.T. (1994) Molecular map of Chromosome 19 including three genes affecting bleeding time: ep, ru, and bm. Mammalian Genome, 5, 356-360.
25. Hall, S.L. and Padgett, R.A. (1994) Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites. J. Mol. Biol., 239, 357-365.
26. Hall, S.L. and Padgett, R.A. (1996) Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns. Science, 271, 1716-1718.
27. Tarn, W.-Y. and Sleitz, J.A. (1996) A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro. Cell, 84, 801-811.
28. Parker, R. and Patterson, B. (1987) Architecture of fungal introns: Implications for spliceosome assembly. In Dudock, B. and Inouye, M. (eds), Molecular Biology of RNA: New Perspectives. Academic Press, New York, pp. 133-149.
29. Goguel, V. and Rosbash, M. (1993) Splice site choice and splicing efficiency are positively influenced by pre-mRNA intramolecular base pairing in yeast. Cell, 72, 893-901.
30. Libri, D., Stutz, F., McCarthy, T. and Roshbash, M. (1995) RNA structural patterns and splicing: molecular basis for an RNA-based enhancer. RNA, 1, 425-436.
31. Christy, R.J., Brown, A.R., Gourlie, B.B. and Huang, R.C.C. (1985) Nucleotide sequences of murine intracistemal A-particle gene LTRs have extensive variability within the R region. Nucleic Acids Res., 13, 289-302.
32. Duhl, D.M.J., Vrieling, H., Miller, K.A., Wolff, G.L. and Barsh, G.S. (1994) Neomorphic agouti mutations in obese yellow mice. Nature Genet., 8, 59-65.
33. Barbosa, M.D.F.S., Nguyen, Q.A., Tchemev, V.T., Ashley, J.A., Detter, J.C., Blaydes, S.M., Brandt, S.J., Chotal, D., Hodgman, C., Solari, R.C.E., Lovett, M. and Kingsmore, S.F. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature, 382, 262-265.
34. Nagle, D.L., Karim, M.A., Woolf, E.A., Holmgren, L., Bork, P., Misumi, D.J., McGrail, S.H., Dussault, B.J. Jr., Perou, C.M., Boissy, R.E., Duyk, G.M., Spritz, R.A. and Moore, K.J. (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet., 14, 307-311.
35. Perou, C.M., Moore, K.J., Nagle, D.L., Misumi, D.J., Woolf, E.A., McGrail, S.H., Holmgren, L., Brody, T.H., Dussault, B.J. Jr., Monroe, C.A., Duyk, G.M., Pryor, R.J., Li, L., Justice, M.J. and Kaplan, J. (1996) Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genet., 13, 303-308.
36. Lane, P.W. and Green. E.L. (1967) Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J. Hered., 58, 17-20.
37. Lavail, J.H., Nixon, R.A. and Sidman, R.L. (1978) Genetic control of retinal ganglion cell projections. J. Comp. Neur., 182, 399-422.
38. Balkema, G.W. and Drager, U.C. (1990) Origins of uncrossed retinofugal projections in normal and hypopigmented mice. Visual Neurosci., 4, 595-604.
39. Novak, E.K. and Swank, R.T. (1979) Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics, 92, 189-204.
40. Om, A., Hakansson, E.M., Gidlund, M., Ramstedt, U., Axberg, I., Wigzell, H. and Lundin, L.G. (1982) Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand. J. Immunol., 15, 305-310.
41. Brown, J.A., Novak, E.K. and Swank, R.T. (1985) Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: Evidence for two distinct pathways. J. Cell Biol., 100, 1894-1904.
42. Novak, E.K., Hui, S.-W. and Swank, R.T. (1981) The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood, 57, 38-43.
43. Novak, E.K., Hui, S.-W. and Swank, R.T. (1984) Platelet storage pool deficiency in mouse pigment mutants associated with seven distinct genetic loci. Blood, 63, 536-544.
44. Squires, K.E., Kirsch, M., Silverstein, S.C., Acosta. A., McElrath, M.J. and Murray, H.W. (1990) Defect in the tissue cellular immune response: Experimental visceral Leishmaniasis in euthymic C57BL/6 ep/ep mice. Infect. Immunity, 58, 3893-3898.
45. Murray, H.W., Hariprashad, J., McDermott, D.F. and Stoeckle, M.Y. (1996) Multiple host defense defects in failure of C57BL/6 ep/ep (pale ear) mice to resolve visceral Leishmania donovani infection. Infect. Immunity, 64, 161-166.
46. Shanahan, F., Randolph, L., King, R., Oseas, R., Brogan, M., Witkop, C., Rotter, J. and Targan, S. (1988) Hermansky-Pudlak syndrome: An immunologic assessment of 15 cases. Am. J. Med., 85, 823-828.
47. Ramsay, M. (1996) Protein trafficking violations. Nature Genet., 14, 242-245.
48. Lee, S.-T., Park, S.-K., Lee, K.-H., Holmes, S.A. and Spritz, R.A. (1995) A non-radioactive method for simultaneous detection of single-strand conformation polymorphisms (SSCPs) and heteroduplexes. Molecules Cells, 5, 668-672.