The murine Misty mutation: Phenotypic effects on melanocytes, platelets and brown fat

Genetics

Volumn 148, Issue 1, 1998, Pages 381-390

  Sviderskaya, Elena V ^a   Novak, Edward K ^b   Swank, Richard T ^b   Bennett, Dorothy C ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b ROSWELL PARK CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; CHOLERA TOXIN; CYCLIC AMP; GENE PRODUCT; INTERMEDIN; MELANIN; SEROTONIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BLEEDING TIME; BROWN ADIPOSE TISSUE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE MUTATION; MALE; MELANOCYTE; MELANOGENESIS; MOUSE; NONHUMAN; NUCLEOTIDE METABOLISM; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SIGNAL TRANSDUCTION; SKIN COLOR; THROMBOCYTE COUNT;

ADENOSINE TRIPHOSPHATE; ADIPOSE TISSUE, BROWN; ANIMALS; BLEEDING TIME; BLOOD PLATELETS; CELL DIVISION; GENES; HAIR COLOR; MELANOCYTES; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MUTATION; PHENOTYPE; PHENYLTHIOUREA; PIGMENTATION;

EID: 0031883753     PISSN: 00166731     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. BARBOSA, M. D. F. S., Q. A. NGUYEN, V. T. TCHERNEV, J. A. ASHLEY, J. C. DETTER et al., 1996 Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382: 262-265.
2. BAYNASH, A. G., K. HOSODA, A. GIAID, J. A. RICHARDSON, N. EMOTO et al., 1994 Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79: 1277-1285.
3. BENNETT, D. C., 1993 Genetics, development and malignancy of melanocytes. Int. Rev. Cytol. 146: 191-260.
4. BENNETT, D. C., P. J. 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. J. Cancer 39: 414-418.
5. BENNETT, D. C., P. J. COOPER, T. J. DEXTER, L. M. DEVLIN, J. HEASMAN et al., 1989 Cloned mouse melanocyte lines carrying the germline mutations albino and brown: complementation in culture. Development 105: 379-385.
6. BENNETT, D. C., D. HUSZAR, P. J. LAIPIS, R. JAENISCH and I. J. JACKSON, 1990 Phenotypic rescue of mutant brown melanocytes by a retrovirus carrying a wild-type tyrosinase-related protein gene. Development 110: 471-475.
7. BERTOLOTTO, C., K. BILLE, J.-P. ORTONNE and R. BALLOTTI, 1996 Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: implication of the microphthalmia gene product. J. Cell Biol. 134: 747-755.
8. BLOOM, W., and D. W. FAWCETT, 1986 A Textbook of Histology, Ed. 11. W. B. Saunders, Philadelphia.
9. BRECHER, G., and E. P. CRONKITE, 1950 Morphology and enumeration of human blood platelets. J. Appl. Physiol. 3: 365-367.
10. CALLAN, M. B., J. S. BENNETT, D. K. PHILLIPS, M. E. HASKINS, J. E. HAYDEN et al., 1995 Inherited platelet δ-storage pool disease in dogs causing severe bleeding: an animal model for a specific ADP deficiency. Thromb. Haemost. 74: 949-953.
11. CHAKRABORTY, A. K., J. T. PLATT, K. K. KIM, B. S. KWON, D. C. BENNETT et al., 1996 Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein. Eur. T. Biochem. 236: 180-188.
12. CROSTI, P. F., and P. E. LUCCHELLI, 1962 An easy method to determine the serotonin content of human platelets. J. Clin. Pathol. 15: 191-193.
13. DEJANA, E., A. CALLIONI, A. QUINTANA and G. GAETANO, 1979 Bleeding time in laboratory animals. II. A comparison of different assay conditions in rats. Thromb. Res. 15: 191-197.
14. De SEPULVEDA, P., J.-L. GUENET and J.-J. PANTHIER, 1995 Phenotypic reversions at the W/Kit locus mediated by mitotic recombination in the mouse. Mol. Cell. Biol. 15: 5898-5905.
15. DOOLITTLE, D. P., M. T. DAVISSON, J. N. GUIDI and M. C. GREEN, 1996 Catalog of mutant genes and polymorphic loci, pp. 17-854 in Genetic Variants and Strains of the Laboratory Mouse, Vol. 1, Ed. 3, edited by M. F. LYON, S. RASTAN and S. D. M. BROWN. Oxford University Press, Oxford, UK.
16. EISINGER, M., and O. MARKO, 1982 Selective proliferation of normal human melanocytes in the presence of phorbol ester and cholera toxin. Proc. Natl. Acad. Sci. USA 79: 2018-2022.
17. FENG G H., T. BAILIN, J. OH and R. A. SPRITZ, 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.
18. FIEDOREK, F. T., and E. S. KAY, 1994 Mapping of PCR-based markers for mouse chromosome 4 on a backcross penetrant for the misty (m) mutation. Mamm. Genome 5: 479-485.
19. FRIEDMANN, P. S., F. E. WREN and J. N. S. MATTHEWS, 1990 Ultraviolet stimulated melanogenesis by human melanocytes is augmented bv di-acyl glycerol but not TPA. J. Cell. Physiol. 142: 334-341.
20. HIROBE, T., 1992 Basic fibroblast growth factor stimulates the sustained proliferation of mouse epidermal melanoblasts in a serum-free medium in the presence of dibutyryl cyclic AMP and keratinocytes. Development 114: 435-445.
21. HOLMSEN, H., 1989 Physiological functions of platelets. Ann. Med. 21: 23-38.
22. JACKSON, I. J., 1994 Molecular and developmental genetics of mouse coat color. Annu. Rev. Genet. 28: 189-217.
23. JACKSON, I. J., and D. C. BENNETT, 1990 Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant. Proc. Natl. Acad. Sci. USA 87: 7010-7014.
24. KING, R. A., V. J. HEARING, D. J. CREEL and W. S. OETTING, 1995 Albinism. Metabo. Basis Inherit. Dis. 3: 4353-4392.
25. MACFARLANE, D. E., 1986 Agonists and receptors: adenosine diphosphate. Platelet Respons. Metab. 2: 19-36.
26. NAGLE, D. L., M. A. KARIM, E. A. WOOLF, L. HOLMGREN, P. BORK et al., 1996 Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet. 14: 307-311.
27. NÉCHAD, M., 1986 Structure and development of brown adipose tissue, pp. 1-30 in Brown Adipose Tissue, edited by P. TRAYHURN and D. G. NICHOLLS. Edward Arnold, Baltimore.
28. NEWMAN, P. J., and M. PONCZ, 1995 Inherited disorders of platelets. Metab. Basis Inherit. Dis. 3: 3335-3366.
29. NICHOLLS, D. G., and R. M. LOCKE, 1984 Thermogenic mechanisms in brown fat. Physiol. Rev. 64: 1-64.
30. NOVAK, E. K., S.-W. HUI and R. T. SWANK, 1981 The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 57: 38-43.
31. NOVAK, E. K., H. O. SWEET, M. PROCHAZKA, M. PARENTIS, R. SOBLE et al., 1988 Cocoa: a new mouse model for platelet storage pool deficiency. Br. J. Haematol. 69: 371-378.
32. ORLOW, S. J., 1995 Melanosomes are specialized members of the lysosomal lineage of organelles. J. Invest. Dermatol. 105: 3-7.
33. PAWELEK, J. M., and A. B. LERNER, 1978 5,6-Dihydroxyindole is a melanin precursor showing potent cytotoxicity. Nature 276: 627-628.
34. PEROU, C. M., K. J. MOORE, D. L. NAGLE, D. J. MISUMI, E. A. WOOLF et al., 1996 Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genet. 13: 303-308.
35. PRESTON, S. F., M. VOLPI, C. M. PEARSON and R. D. BERLIN, 1987 Regulation of cell shape in the Cloudman melanoma line. Proc. Natl. Acad. Sci. USA 84: 5247-5251.
36. RAO, A. K., 1990 Congenital disorders of platelet function. Hematol. Oncol. 4: 65-86.
37. RHEINWALD, J. G., and H. GREEN, 1975 Formation of a keratinizing epithelium in culture by a cloned cell line derived from a teratoma. Cell 6: 317-330.
38. SATO, C., S. ITO and T. TAKEUCHI, 1985 Establishment of a mouse melanocyte clone which synthesizes both eumelanin and pheomelanin. Cell Struct. Funct. 10: 421-425.
39. SILVERS, W. K., 1979 The Coat Colors of Mice. Springer-Verlag, New York.
40. SPANAKIS, E., P. LAMINA and D. C. BENNETT, 1992 Effects of the developmental colour mutations silver and recessive spotting on proliferation of diploid and immortal mouse melanocytes in culture. Development 114: 675-680.
41. SPRITZ, R. A., and V. J. HEARING, 1994 Genetic disorders of pigmentation. Adv. Hum. Genet. 22: 1-45.
42. SVIDERSKAYA, E. V., W. F. WAKELING and D. C. BENNETT, 1995 A cloned, immortal line of murine melanoblasts inducible to differentiate to melanocytes. Development 121: 1547-1557.
43. SWANK, R. T., M. REDDINGTON, O. HOWLETT and E. K. NOVAK, 1991 Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78: 2036-2044.
44. SWANK, R. T., M. REDDINGTON and E. K. NOVAK, 1996 Inherited prolonged bleeding time and platelet storage pool deficiency (SPD) in the subtle gray (sut) mouse. Lab. Anim. Sci. 46: 56-60.
45. TAMURA, A., R. HALABAN, G. MOELLMANN, J. M. COWAN, M. R. LERNER et al., 1987 Normal murine melanocytes in culture. In Vitro Cell. Dev. Biol. 23: 519-522.
46. TASSABEHJI, M., V. E. NEWTON and A. P. READ, 1994 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet. 8: 251-255.
47. TRUETT, G. E., R. J. TEMPELMAN, and J. A. WALKER, 1996 Misty (m) affects energy balance related phenotypes. Obes. Res. 4: 515.
48. WEISS, H. J., L. D. WITTE, K. L. KAPLAN, B. A. LAGES, A. CHERNOFF et al., 1979 Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in α-granules, platelet factor 4, β-thromboglobulin and platelet-derived growth factor. Blood 54: 1296-1319.
49. WILKIE, T. M., Y. CHEN, D. J. GILBERT, K. J. MOORE, L. Yu et al., 1993 Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors. Genomics 18: 175-184.
50. WONG, G., and J. PAWELEK, 1975 Melanocyte-stimulating hormone promotes activation of pre-existing tyrosinase molecules in Cloudman S91 melanoma cells. Nature 255: 644-646.
51. WOOLLEY, G. W., 1941 "Misty" a new coat color dilution in the mouse, Mus musculus. Am. Naturalist 75: 507-508.
52. WOOLLEY, G. W., 1945 Misty dilution in the mouse. J. Hered. 36: 269-270.
53. YAMAMOTO, H., S. TAKEUCHI, T. KUDO, C. SATO and T. TAKEUCHI, 1989 Melanin production in cultured albino melanocytes transfected with mouse tyrosinase cDNA. Jpn. J. Genet. 64: 121-135.