Effects of G-protein mutations on skin color

Nature Genetics

Volumn 36, Issue 9, 2004, Pages 961-968

  Van Raamsdonk, Catherine D ^a   Fitch, Karen R ^a   Fuchs, Helmut ^b   De Angelis, Martin Hrabé ^b   Barsh, Gregory S ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; MELANIN; PROTEIN SUBUNIT; PROTEIN TYROSINE KINASE; STEM CELL FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DARK SKIN; DEVELOPMENT; DSK GENE; EDNRB GENE; EMBRYO; GENE; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; GNA11 GENE; GNAQ GENE; HAIR COLOR; MOLECULAR CLONING; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; POSITIONAL CLONING; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SKIN COLOR;

ANIMALS; EMBRYONIC AND FETAL DEVELOPMENT; GTP-BINDING PROTEIN ALPHA SUBUNITS, GQ-G11; MELANOCYTES; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SIGNAL TRANSDUCTION; SKIN PIGMENTATION;

ANIMALIA;

EID: 4444258913     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1412     Document Type: Article

References (43)

1. Quevedo, W.C. & Holstein, T.J. General Biology of Mammalian Pigmentation. in The Pigmentary System (eds. Nordlunkd, J.J., Boissy, R.E., Hearing, V.J., King, R.A. & Ortonne, J.-P.) 43-58 (Oxford University Press, New York, 1998).
2. Nolan, P.M. et al. A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat. Genet. 25, 440-443 (2000).
3. Hrabe de Angelis, M.H. et al. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat. Genet. 25, 444-447 (2000).
4. Shiroishi, T. A large-scale mouse mutagenesis with a chemical mutagen ENU. Tanpakushitsu Kakusan Koso 46, 2613-2618 (2001).
5. Fitch, K.R. et al. Genetics of dark skin in mice. Genes Dev. 17, 214-228 (2003).
6. Hubbard, T. et al. The Ensembl genome database project. Nucleic Acids Res. 30, 38-41 (2002).
7. Neves, S.R., Ram, P.T. & Iyengar, R. G protein pathways. Science 296, 1636-1639 (2002).
8. Wilkie, T.M. & Yokoyama, S. Evolution of the G protein alpha subunit multigene family. Soc. Gen. Physiol. Ser. 49, 249-270 (1994).
9. Wilkie, T.M., Scherle, P.A., Strathmann, M.P., Slepak, V.Z. & Simon, M.I. Characterization of G-protein alpha subunits in the Gq class: expression in murine tissues and in stromal and hematopoietic cell lines. Proc. Natl. Acad. Sci. USA 88, 10049-10053 (1991).
10. Yoshida, R., Kusakabe, T., Kamatani, M., Daitoh, M. & Tsuda, M. Central nervous system-specific expression of G protein alpha subunits in the ascidian Ciona intestinalis. Zoolog. Sci. 19, 1079-1088 (2002).
11. Coghill, E.L. et al. A gene-driven approach to the identification of ENU mutants in the mouse. Nat. Genet. 30, 255-256 (2002).
12. Sunahara, R.K., Tesmer, J.J., Gilman, A.G. & Sprang, S.R. Crystal structure of the adenylyl cyclase activator Gsalpha. Science 278, 1943-1947 (1997).
13. Offermanns, S., Toombs, C.F., Hu, Y.H. & Simon, M.I. Defective platelet activation in G alpha(q)-deficient mice. Nature 389, 183-186 (1997).
14. Offermanns, S. et al. Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. EMBO J. 17, 4304-4312 (1998).
15. Mayer, T.C. The migratory pathway of neural crest cells into the skin of mouse embryos. Dev. Biol. 34, 39-46 (1973).
16. Hirobe, T. Histochemical survey of the distribution of the epidermal melanoblasts and melanocytes in the mouse during fetal and postnatal periods. Anat. Rec. 208, 589-594 (1984).
17. Wilkie, A.L., Jordan, S.A. & Jackson, I.J. Neural crest progenitors of the melanocyte lineage: coat colour patterns revisited. Development 129, 3349-3357 (2002).
18. Jordan, S.A. & Jackson, I.J. MGF (KIT ligand) is a chemokinetic factor for melanoblast migration into hair follicles. Dev. Biol. 225, 424-436 (2000).
19. Byrne, C., Tainsky, M. & Fuchs, E. Programming gene expression in developing epidermis. Development 120, 2369-2383 (1994).
20. McGowan, K.M. & Coulombe, P.A. Onset of keratin 17 expression coincides with the definition of major epithelial lineages during skin development. J. Cell Biol. 143, 469-486 (1998).
21. Shin, M.K., Levorse, J.M., Ingram, R.S. & Tilghman, S.M. The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature 402, 496-501 (1999).
22. Geissler, E.N., Ryan, M.A. & Housman, D.E. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell 55, 185-192 (1988).
23. Bennett, D.C. & Lamoreux, M.L. The color Loci of mice - a genetic century. Pigment Cell Res. 16, 333-344 (2003).
24. Mackenzie, M.A., Jordan, S.A., Budd, P.S. & Jackson, I.J. Activation of the receptor tyrosine kinase Kit is required for the proliferation of melanoblasts in the mouse embryo. Dev. Biol. 192, 99-107 (1997).
25. Pavan, W.J. & Tilghman, S.M. Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes. Proc. Natl. Acad. Sci. USA 91, 7159-7163 (1994).
26. Hornyak, T.J., Hayes, D.J., Chiu, L.Y. & Ziff, E.B. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech. Dev. 101, 47-59 (2001).
27. Spiegel, A.M. & Weinstein, L.S. Inherited diseases involving g proteins and g protein-coupled receptors. Annu. Rev. Med. 55, 27-39 (2004).
28. Dong, Q. et al. Screening of candidate oncogenes in human thyrotroph tumors: absence of activating mutations of the G alpha q, G alpha 11, G alpha s, or thyrotropin-releasing hormone receptor genes. J. Clin. Endocrinol. Metab. 81, 1134-1140 (1996).
29. Doi, M. & Iwasaki, K. Regulation of retrograde signaling at neuromuscular junctions by the novel C2 domain protein AEX-1. Neuron 33, 249-259 (2002).
30. Bastiani, C.A., Gharib, S., Simon, M.I. & Sternberg, P.W. Caenorhabditis elegans Galphaq regulates egg-laying behavior via a PLCbeta-independent and serotonin-dependent signaling pathway and likely functions both in the nervous system and in muscle. Genetics 165, 1805-1822 (2003).
31. Lee, H.O., Levorse, J.M. & Shin, M.K. The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors. Dev. Biol. 259, 162-175 (2003).
32. Opdecamp, K., Kos, L., Arnheiter, H. & Pavan, W.J. Endothelin signalling in the development of neural crest-derived melanocytes. Biochem. Cell Biol. 76, 1093-1099 (1998).
33. Hou, L., Pavan, W.J., Shin, M.K. & Arnheiter, H. Cell-autonomous and cell nonautonomous signaling through endothelin receptor B during melanocyte development. Development 131, 3239-3247 (2004).
34. Pollock, P.M. et al. Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia. Nat. Genet. 34, 108-112 (2003).
35. Kunisada, T. et al. Keratinocyte expression of transgenic hepatocyte growth factor affects melanocyte development, leading to dermal melanocytosis. Mech. Dev. 94, 67-78 (2000).
36. Brundage, L. et al. Mutations in a C. elegans Gqalpha gene disrupt movement, egg laying, and viability. Neuron 16, 999-1009 (1996).
37. D'Angelo, D.D. et al. Transgenic Galphaq overexpression induces cardiac contractile failure in mice. Proc. Natl. Acad. Sci. USA 94, 8121-8126 (1997).
38. Yoshida, H., Kunisada, T., Kusakabe, M., Nishikawa, S. & Nishikawa, S.I. Distinct stages of melanocyte differentiation revealed by anlaysis of nonuniform pigmentation patterns. Development 122, 1207-1214 (1996).
39. Hou, L., Panthier, J.J. & Amheiter, H. Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF. Development 127, 5379-5389 (2000).
40. Opdecamp, K. et al. Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 124, 2377-2386 (1997).
41. Yoshida, H. et al. Review: melanocyte migration and survival controlled by SCF/c-kit expression. J. Investig. Dermatol. Symp. Proc. 6, 1-5 (2001).
42. Ivey, K. et al. Galphaq and Galpha11 proteins mediate endothelin-1 signaling in neural crest-derived pharyngeal arch mesenchyme. Dev. Biol. 255, 230-237 (2003).
43. Hosoda, K. et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79, 1267-1276 (1994).