A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation

Development

Volumn 130, Issue 19, 2003, Pages 4665-4672

  Rao, Cherie ^a   Foernzler, Dorothee ^a   Loftus, Stacie K ^b   Liu, Shanming ^a   McPherson, John D ^c   Jungers, Katherine A ^d   Apte, Suneel S ^d   Pavan, William J ^b   Beier, David R ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c WASHINGTON UNIVERSITY   (United States)

^d LERNER RESEARCH INSTITUTE   (United States)

Author keywords

ADAMTS; Melanocyte migration; Mouse; White spotting

Indexed keywords

METALLOPROTEINASE; PROTEIN ADAMTS; UNCLASSIFIED DRUG;

ARTICLE; CAENORHABDITIS ELEGANS; CELL MATURATION; CELL MIGRATION; CONTROLLED STUDY; DEVELOPMENTAL BIOLOGY; EMBRYO; EMBRYO DEVELOPMENT; MAMMAL; MELANOCYTE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; SEQUENCE HOMOLOGY; SKIN PIGMENTATION;

ADAM PROTEINS; ANIMALS; CELL MOVEMENT; DISINTEGRINS; EMBRYO; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION; MELANOCYTES; METALLOENDOPEPTIDASES; MICE; MICE, INBRED C57BL; MUTATION; PHYLOGENY; PIGMENTATION; SKIN;

CAENORHABDITIS; CAENORHABDITIS ELEGANS; MAMMALIA;

EID: 0041700100     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: 10.1242/dev.00668     Document Type: Article

References (38)

1. Baynash, A. G., Hosoda, K., Giaid, A., Richardson, J. A., Emoto, N., Hammer, R. E. and Yanagisawa, M. (1994). Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79, 1277-1285.
2. Beier, D. R., Morton, C. C., Leder, A., Wallace, R. and Leder, P. (1989). Perinatal lethality (ple): A mutation caused by integration of a transgene into distal mouse chromosome 15. Genomics 4, 498-504.
3. Blelloch, R., Anna-Arriola, S. S., Gao, D., Li, Y., Hodgkin, J. and Kimble, J. (1999). The gon-1 gene is required for gonadal morphogenesis in Caenorhabditis elegans. Dev. Biol. 216, 382-393.
4. Blelloch, R. and Kimble, J. (1999). Control of organ shape by a secreted metalloprotease in the nematode Caenorhabditis elegans. Nature 399, 586-590.
5. Colige, A., Sieron, A. L., Li, S. W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W. et al. (1999). Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am. J. Hum. Genet. 65, 308-317.
6. Dickie, M. M. (1954). Expanding knowledge of the genome of the mouse. J. Natl. Cancer Inst. 15, 679.
7. Dunn, L. C. and Charles, D. (1937). Studies on spotting patterns. Genetics 22, 14-42.
8. Duttlinger, R., Manova, K., Chu, T. Y., Gyssler, C., Zelenetz, A. D., Bachvarova, R. F. and Besmer, P. (1993). W-sash affects positive and negative elements controlling c-kit expression: ectopic c-kit expression at sites of kit-ligand expression affects melanogenesis. Development 118, 705-717.
9. European Backcross Collaborative Group (1994). Towards high resolution maps of the mouse and human genomes - a facility for ordering markers to 0.1 cM resolution. Hum. Mol. Genet. 3, 621-627.
10. Haldane, J. B. S., Sprunt, A. D. and Haldane, N. M. (1915). Reduplication in mice. J. Genet. 5, 133-135.
11. Heissig, B., Hattori, K., Dias, S., Friedrich, M., Ferris, B., Hackett, N. R., Crystal, R. G., Besmer, P., Lyden, D., Moore, M. A. et al. (2002). Recruitment of stem and progenitor cells from the bone marrow niche requires MMP-9 mediated release of kit-ligand. Cell 109, 625-637.
12. Hodgkinson, C. A., Moore, K. J., Nakayama, A., Steingrimsson, E., Copeland, N. G., Jenkins, N. A. and Arnheiter, H. (1993). Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74, 395-404.
13. Hosoda, K., Hammer, R. E., Richardson, J. A., Baynash, A. G., Cheung, J. C., Giaid, A. and Yanagisawa, M. (1994). Targeted and natural (piebaldlethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79, 1267-1276.
14. Hurskainen, T. L., Hirohata, S., Seldin, M. F. and Apte, S. S. (1999). ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family. J. Biol. Chem. 274, 25555-25563.
15. Kluppel, M., Nagle, D. L., Bucan, M. and Bernstein, A. (1997). Long-range genomic rearrangements upstream of Kit dysregulate the developmental pattern of Kit expression in W57 and Wbanded mice and interfere with distinct steps in melanocyte development. Development 124, 65-77.
16. Lehmann, R. (2001). Cell migration in invertebrates: clues from border and distal tip cells. Curr. Opin. Genet. Dev. 11, 457-463.
17. Levy, G. G., Nichols, W. C., Lian, E. C., Foroud, T., McClintick, J. N., McGee, B. M., Yang, A. Y., Siemieniak, D. R., Stark, K. R., Gruppo, R. et al. (2001). Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413, 488-494.
18. Llamazares, M., Cal, S., Quesada, V. and Lopez-Otin, C. (2003). Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON-domain. J. Biol. Chem. 31, 31.
19. Loftus, S. K., Larson, D. M., Baxter, L. L., Antonellis, A., Chen, Y., Wu, X., Jiang, Y., Bittner, M., Hammer, J. A., 3rd and Pavan, W. J. (2002). Mutation of melanosome protein RAB38 in chocolate mice. Proc. Natl. Acad. Sci. USA 99, 4471-4476.
20. Matesic, L. E., Yip, R., Reuss, A. E., Swing, D. A., O'Sullivan, T. N., Fletcher, C. F., Copeland, N. G. and Jenkins, N. A. (2001). Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc. Natl. Acad. Sci. USA 98, 10238-10243.
21. Mayer, T. and Maltby, E. (1964). An experimental investigation of pattern development in lethal spotting and belted mouse embryos. Dev. Biol. 9, 269-286.
22. Mercer, J. A., Seperack, P. K., Strobel, M. C., Copeland, N. G. and Jenkins, N. A. (1991). Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349, 709-713.
23. Murray, J. and Snell, G. (1945). Belted, a new sixth chromosome mutation in the mouse. J. Hered. 36, 266-268.
24. Nusgens, B. V., Verellen-Dumoulin, C., Hermanns-Le, T., de Paepe, A., Nuytinck, L., Pierard, G. E. and Lapiere, C. M. (1992). Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nat. Genet. 1, 214-217.
25. Pavan, W. J. and Tilghman, S. M. (1994). Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes. Proc. Natl. Acad. Sci. USA 91, 7159-7163.
26. Potterf, S. B., Furumura, M., Dunn, K. J., Arnheiter, H. and Pavan, W. J. (2000). Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum. Genet. 107, 1-6.
27. Ross, M., LaBrie, S., McPherson, J. and Stanton, V. (1999). Screening large-insert libraries by hybridization. In Current Protocols in Human Genetics (ed. N. C. Dracopoli, J. L. Haines, B. R. Korf, D. T. Moir, C. C. Morton, C. E. Seidman, J. G. Seidman and D. R. Smith), pp. 5.6.1-5.6.52. New York, NY: John Wiley and Sons.
28. Schaible, R. (1972). Comparative effects of piebald-spotting genes on clones of melanocytes in different vertebrate species. In Pigmentation: Its Genesis and Biologic Control (ed. V. Riley), pp. 343-357. New York: Appleton-Century-Crofts.
29. Silvers, W. K. (1979). The Coat Colors of Mice. New York: Sringer-Verlag.
30. Somerville, R. P., Longpre, J. M., Jungers, K. A., Engle, J. M., Ross, M., Evanko, S., Wight, T. N., Leduc, R. and Apte, S. S. (2003). Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. J. Biol. Chem. 278, 9503-9513.
31. Southard-Smith, E. M., Kos, L. and Pavan, W. J. (1998). Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat. Genet. 18, 60-64.
32. Steel, K. P., Davidson, D. R. and Jackson, I. J. (1992). TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115, 1111-1119.
33. Tortorella, M., Pratta, M., Liu, R. Q., Abbaszade, I., Ross, H., Burn, T. and Arner, E. (2000). The thrombospondin motif of aggrecanase-1 (ADAMTS-4) is critical for aggrecan substrate recognition and cleavage. J. Biol. Chem. 275, 25791-25797.
34. Tortorella, M. D., Burn, T. C., Pratta, M. A., Abbaszade, I., Hollis, J. M., Liu, R., Rosenfeld, S. A., Copeland, R. A., Decicco, C. P., Wynn, R. et al. (1999). Purification and cloning of aggrecanase-1: a member of the ADAMTS family of proteins. Science 284, 1664-1666.
35. Voisey, J. and van Daal, A. (2002). Agouti: from mouse to man, from skin to fat. Pigment Cell Res. 15, 10-18.
36. Wilkinson, D. G. and Nieto, M. A. (1993). Guide to techniques in mouse development. In Methods in Enzymology (ed. P. M. Wassarman and M. L. DePamphilis), pp. 361-373. San Diego: Academic Press.
37. Wilson, S. M., Yip, R., Swing, D. A., O'Sullivan, T. N., Zhang, Y., Novak, E. K., Swank, R. T., Russell, L. B., Copeland, N. G. and Jenkins, N. A. (2000). A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc. Natl. Acad. Sci. USA 97, 7933-7938.
38. Wu, M., Hemesath, T. J., Takemoto, C. M., Horstmann, M. A., Wells, A. G., Price, E. R., Fisher, D. Z. and Fisher, D. E. (2000). c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev. 14, 301-312.