The Sox10(Dom) mouse: Modeling the genetic variation of Waardenburg-Shah (WS4) syndrome

Genome Research

Volumn 9, Issue 3, 1999, Pages 215-225

  Southard Smith, E Michelle ^a   Angrist, Misha ^b   Ellison, Jane S ^a   Agarwala, Richa ^a   Baxevanis, Andreas D ^a   Chakravarti, Aravinda ^b   Pavan, William J ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN RECEPTOR;

AGANGLIONOSIS; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CHROMOSOME 10; CONTROLLED STUDY; DNA BINDING; EXON; FEMALE; GASTROINTESTINAL TRACT; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HYPOPIGMENTATION; INTRON; LETHAL GENE; MALE; MOLECULAR EVOLUTION; MOUSE; NEURAL CREST; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; FEMALE; GENES, DOMINANT; HIGH MOBILITY GROUP PROTEINS; HIRSCHSPRUNG DISEASE; HUMANS; HYPOPIGMENTATION; MALE; MICE; MICE, CONGENIC; MICE, INBRED C3H; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; RATS; SYNDROME; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

ANIMALIA; VERTEBRATA;

EID: 0032898565     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Barton, G.J. 1993. ALSCRIPT, a tool to format multiple sequence alignments. Protein Eng. 6: 37-40.
2. Baxevanis, A.D., S.H. Bryant, and D. Landsman. 1995. Homology model building of the HMG-1 box structural domain. Nucleic Acids Res. 23: 1019-1029.
3. Baynash, A.G., K. Hosoda, A. Giaid, J.A. Richardson, N. Emoto, R.E. Hammer, and M. Yanagisawa. 1994. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79: 1277-1285.
4. Bryant, S.H. and C.E. Lawrence. 1993. An empirical energy function for threading protein sequence through the folding motif. Proteins 16: 92-113.
5. Cottingham, R.W., Jr., R.M. Idury, and A.A. Schaffer. 1993. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53: 252-263.
6. Davis, S., M. Schroeder, L.R. Goldin, and D.E. Weeks. 1996. Nonparametric simulation-based statistics for detecting linkage in general pedigrees. Am. J. Hum. Genet. 58: 867-880.
7. Dietrich, W., H. Katz, S.E. Lincoln, H.S. Shin, J. Friedman, N.C. Dracopoli, and E.S. Lander. 1992. A genetic map of the mouse suitable for typing intraspecific crosses. Genetics 131: 423-447.
8. Dudov, K.P. and R.P. Perry. 1984. The gene family encoding the mouse ribosomal protein L32 contains a uniquely expressed intron-containing gene and an unmutated processed gene. Cell 37: 457-468.
9. Edery, P., T. Attie, J. Amiel, A. Pelet, C. Eng, R.M. Hofstra, H. Martelli, C. Bidaud, A. Munnich, and S. Lyonnet. 1996. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung. Nat. Genet. 12: 442-444.
10. Goldin, L.R. and D.E. Weeks, 1993. Two-locus models of disease: Comparison of likelihood and nonparametric linkage methods. Am. J. Hum. Genet. 53: 908-915.
11. Herbarth, B., V. Pingault, N. Bondurand, K. Kuhlbrodt, I. Hermans-Borgmeyer, A. Puliti, N. Lemort, M. Goossens, and M. Wegner. 1998. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc. Natl. Acad. Sci. 95: 5161-5165.
12. Hofstra, R.M., J. Osinga, G. Tan-Sindhunata, Y. Wu, E.J. Kamsteeg, R.P. Stulp, C. van Ravenswaaij-Arts, D. Majoor-Krakauer, M. Angrist, A. Chakravarti, C. Meijers, and C.H. Buys. 1996. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat. Genet. 12: 445-447.
13. Hosoda, K., R.E. Hammer, J.A. Richardson, A.C. Baynash, J.C. Cheung, A. Giaid, and M. Yanagisawa. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79: 1267-1276.
14. Jones, D.N.M., M.A. Searles, G.L. Shaw, M.E.A. Churchill, S.S. Ner, J. Keeler, A.A. Travers, and D. Neuhaus. 1994. The solution structure and dynamics of the DNA-binding domain of HMG-D from Drosophila melanogaster. Structure 2: 609-627.
15. Kapur, R.P., R. Livingston, B. Doggett, D.A. Sweetser, J.R. Siebert, and R.D. Palmiter. 1996. Abnormal microenvironmental signals underlie intestinal aganglionosis in Dominant megacolon mutant mice. Dev. Biol. 174: 360-369.
16. Kelsh, R.N., M. Brand, Y.J. Jiang, C.P. Heisenberg, S. Lin, P. Haffter, J. Odenthal, M.C. Mullins, F.J. van Eeden, M. Furutani-Seiki, M. Granato, M. Hammerschmidt, D.A. Kane, R.M. Warga, D. Beuchle, L. Vogelsang, and C. Nusslein-Volhard. 1996. Zebrafish pigmentation mutations and the processes of neural crest development. Development 123: 369-389.
17. Kozak, M. 1996. Interpreting cDNA sequences: Some insights from studies on translation. Mamm. Genome 7: 563-574.
18. Kuhlbrodt, K., B. Herbarth, E. Sock, I. Hermans-Borgmeyer, and M. Wegner. 1998a. Sox10, a novel transcriptional modulator in glial cells. J. Neurosci. 18: 237-250.
19. Kuhlbrodt, K., B. Herbarth, E. Sock, J. Enderich, I. Hermans-Borgmeyer, and M. Wegner. 1998b. Cooperative function of POU proteins and SOX proteins in glial cells. J. Biol. Chem. 273: 16050-16057.
20. Lane, P.W. and H.M. Liu. 1984. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J. Hered. 75: 435-439.
21. Makalowski, W., J. Zhang, and M.S. Boguski. 1996. Comparative analysis of 1196 orthologous mouse and human full-length. Genome Res. 6: 846-857.
22. Nicholls, A., K.A. Sharp, and B. Honig. 1991. Protein folding and association: Insights from the thermodynamic properties of hydrocarbons. Proteins 11: 281-296.
23. Ott, J. 1989. Computer-simulation methods in human linkage analysis. Proc. Natl. Acad. Sci. 86: 4175-4178.
24. Ott, J. 1991. Analysis of human genetic linkage. The Johns Hopkins University Press, Baltimore, MD.
25. Pavan, W.J. and S.M. Tilghman. 1994. Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes. Proc. Natl. Acad. Sci. 91: 7159-7163.
26. Pavan, W.J., S. Mac, M. Cheng, and S.M. Tilghman. 1995. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res. 5: 29-41.
27. Pevny, L.H. and R. Lovell-Badge. 1997. Sox genes find their feet. Curr. Opin. Genet. Dev. 7: 338-344.
28. Pingault, V., N. Bondurand, K. Kuhlbrodt, D.E. Goerich, M.O. Prehu, A. Puliti, B. Herbarth, I. Hermans-Borgmeyer, E. Legius, G. Matthijs, J. Amiel, S. Lyonnet, I. Ceccherini, G. Romeo, J.C. Smith, A.P. Read, M. Wegner, and M. Goossens. 1998. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat. Genet. 18: 171-173.
29. Prior, H.M. and M.A. Walter. 1996. SOX genes: Architects of development. Mol. Med. 2: 405-412.
30. Puffenberger, E.G., K. Hosoda, S.S. Washington, K. Nakao, D. deWit, M. Yanagisawa, and A. Chakravarti. 1994. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257-1266.
31. Pusch, C., E. Hustert, D. Pfeifer, P. Sudbeck, R. Kist, B. Roe, Z. Wang, R. Balling, N. Blin, and G. Scherer. 1998. The SOX10/Sox10 gene from human and mouse: Sequence, expression and transactivation by the encoded HMG domain trascription factor. Hum. Genet. 103: 115-123.
32. Read, A.P. and V.E. Newton. 1997. Waardenburg syndrome. J. Med. Genet. 34: 656-665.
33. Schaffer, A.A., S.K. Gupta, K. Shriram, and R.W. Cottingham, Jr. 1994. Avoiding recomputation in linkage analysis. Hum. Hered. 44: 225-237.
34. Southard-Smith, E.M., L. Kos, and W.J. Pavan. 1998. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat. Genet. 18: 60-64.
35. Thomas, K.R., C. Deng, and M.R. Capecchi. 1992. High-fidelity gene targeting in embryonic stem cells by using sequence replacement vectors. Mol. Cell. Biol. 12: 2919-2923.
36. Weir, H.M., P.J. Kraulis, C.S. Hill, A.R.C. Raine, E.D. Laue, and J.O. Thomas. 1993. Structure of the HMG box motif in the B-domain of HMG1. EMBO J. 12: 1311-1319.