Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: A murine model of Waardenburg syndrome variation

Genomics

Volumn 34, Issue 3, 1996, Pages 285-298

  Asher Jr , James H ^a   Harrison, Ronald W ^a   Morell, Robert ^a   Carey, Melisa L ^a   Friedman, Thomas B ^a  

^a MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MORPHOLOGY; FEMALE; GENE MUTATION; GENOTYPE; MALE; MOUSE; NONHUMAN; PENETRANCE; PHENOTYPE; PIGMENTATION; PRIORITY JOURNAL; SURVIVAL; WAARDENBURG SYNDROME;

AGOUTI; ANIMALIA; MURINAE; MUS MUSCULUS; MUS SPRETUS; MUSCULUS;

EID: 0030585759     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0289     Document Type: Article

References (65)

1. Aasved, H. (1962). Waardenburg's syndrome. Acta Ophthalmol. 40: 622-628.
2. Ambani, L. M. (1983). Waardenburg and Hirschsprung Syndromes. J. Pediatr. 102: 802.
3. Anderson, T. W., and Sclove, S. L. (1986). "The Statistical Analysis of Data," 2nd ed., Scientific Press, Palo Alto, CA.
4. Arias, S. (1971). Genetic heterogeneity in the Waardenburg Syndrome. Birth Defects Orig. Art. Ser. 7: 87-101.
5. Arias, S. (1980). Waardenburg Syndrome - Two distinct types. Am. J. Med. Genet. 6: 99-100.
6. Asher, J. H., Jr., and Friedman, T. B. (1990). Mouse and hamster mutants as models for Waardenburg syndromes in humans. J. Med. Genet. 27: 618-626.
7. Asher, J. H., Jr., Morell, R., and Friedman, T. B. (1991). Waardenburg syndrome (WS): The analysis of a single family with a WSI mutation showing linkage to RFLP markers on Human chromosome 2q. Am. J. Hum. Genet. 48: 43-52.
8. Asher, J. H., Jr., Pierpont, J., and Friedman, T. B. (1993). A Waardenburg syndrome type 2 (WS2) mutation not linked to PAX3. Am. J. Hum. Genet. 53(Suppl.): 1685. (Abstract)
9. Asher, J. H., Jr., Sommer, A., Morell, R., and Friedman, T. B. (1996). Missense mutation in the paired domain of PAX3 causes Craniofacial-deafness-hand syndrome. Hum. Mut. 7: 30-35.
10. Baldwin, C. T., Hoth, C. F., Amos, J. A., da-Silva, E. O., and Milunsky, A. (1992). An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355: 637-638.
11. Bookstein, F. L. (1991). "Morphometric Tools for Landmark Data: Geometry and Biology," Cambridge Univ. Press, England.
12. Bultman, S. J., Michaud, E. J., and Woychik, R. P. (1992). Molecular characterization of the mouse agouti locus. Cell 71: 1195-1204.
13. Calinikos, J. (1963). Waardenburg's syndrome. J. Laryngol. Otol. 77: 59-62.
14. Coleman, D. L. (1978). Obese and diabetics: Two mutant genes causing diabetes-obesity syndromes in mice. Diabetologia 14: 141-148.
15. Davis, L. G., Dibner, M. D., and Battey, J. F. (1986). "Methods in Molecular Biology," Elsevier, New York.
16. Delleman, J. W., and Hageman, M. J. (1978). Ophthalmological findings in 34 patients with Waardenburg syndrome. J. Pediatr. Ophthalmol. Strabis. 15: 341-345.
17. Dickie, M. M. (1964). New splotch alleles in the mouse. J. Hered. 55: 97-101.
18. Dietrich, W. F., Lander, E. S., Smith, J. S., Moser, A. R., Gould, K. A., Luongo, C., Borenstein, N., and Dove, W. (1993). Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 75: 631-639.
19. DiGeorge, A. M., Olmsted, R. W., and Robinson, D. H. (1960). Waardenburg Syndrome. J. Pediatr. 57: 649-699.
20. Divekar, M. V. (1957). Waardenburg's syndrome. J. All India Ophthalmol. Soc. 5: 1-5.
21. 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67: 767-774.
22. Farrer, L. A., Grundfast, K. M., Amos, J., Arnos, K. S., Asher, J. H., Jr., Beighton, P., Diehl, S., Fex, J., Foy, C., Friedman, T. B., Greenberg, J., Hoth, C., Marazita, M., Milunsky, A., Morell, R., Nance, W., Newton, V., Ramesar, R., San Augustin, T. B., Skare, J., Stevens, C. A., Wagner, R. G., Wilcox, E. R., Winship, I., and Read, A. P. (1992). Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am. J. Hum. Genet. 50: 902-913.
23. Farrer, L. A., Arnos, K. S., Asher, J. H., Jr., Baldwin, C. T., Diehl, S. R., Friedman, T. B., Greenberg, J., Grundfast, K. M., Hoth, C., Lalwani, A. K., Landa, B., Leverton, K., Milunsky, A., Morell, R., Nance, W., Newton, V., Ramesar, R., Rao, V. S., Reynolds, J. E., San Agustin, T. B., Wilcox, E. R., Winship, I., and Read, A. P. (1994). Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am. J. Hum. Genet. 55: 728-737.
24. Foy, C., Newton, V., Wellesley, D., Harris, R., and Read, A. P. (1990). Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse. Am. J. Hum. Genet. 46: 1017-1023.
25. Goldberg, M. F. (1966). Waardenburg syndrome with fundus and other anomalies. Arch. Ophthalmol. 76: 797-810.
26. Goodman, R. M., Lewithal, I., Solomon, A., and Klein, D. (1982). Upper limb involvement in the Klein-Waardenburg Syndrome. Am. J. Med. Genet. 11: 425-433.
27. Hageman, M. J., and Delleman, J. W. (1977). Heterogeneity in Waardenburg Syndrome. Am. J. Hum. Genet. 29: 468-485.
28. Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., and Baldwin, C. T. (1993). Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-1). Am. J. Hum. Genet. 52: 455-462.
29. Hughes, A. E., Newton, V. E., Liu, X. Z. and Read, A. P. (1994). A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet. 7: 509-512.
30. Klein, D. (1983). Historical background and evidence for dominant inheritance of the Klein-Waardenburg Syndrome (Type III). Am. J. Med. Genet. 14: 231-239.
31. Lander, E. S., and Schork, N. J. (1994). Genetic dissection of complex traits. Science 265: 2037-2040.
32. Leamy, L. (1974). Heritability of osteometric traits in a random bred population of mice. J. Hered. 65: 109-120.
33. Liu, X., Newton, V. E., and Read, A. P. (1995). Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria. Am. J. Med. Genet. 55: 95-100.
34. Lyon, M., and Searle, A. B. (1989). "Genetic Variants and Strains of the Laboratory Mouse," 2nd ed., Oxford Univ. Press, NY.
35. Meijer, R., and Walker, J. C. (1964). Waardenburg's syndrome. Plastic Reconstr. Surg. 34: 363-367.
36. Meire, F., Standaert, L., DeLaey, J. J., and Zeng, L. H. (1987). Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn Ptosis. Am. J. Med. Genet. 27: 683-687.
37. Morell, R., Friedman, T. B., Moeljopawiro, S., Hartono, Soewito, and Asher, J. H., Jr. (1992). A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum. Mol. Genet. 1: 243-247.
38. Morell, R., Friedman, T. B., and Asher, J. H., Jr. (1993). A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. Hum. Mol. Genet. 2: 1487-1488.
39. Nance, W. E., and McConnell, F. E. (1973). Status and prospects of research in hereditary deafness. Adv. Hum. Genet. 4: 173-250.
40. Nance, W. E., and Sweeney, A. (1975). Genetic factors in deafness of early life. Oto. Clin. N. Am. 8: 19-48.
41. Nater, J., and Wasserman, W. (1974). "Applied Linear Statistical Models: Regression, Analysis of Variance and Experimental Design," Richard D. Irwin, Inc., Homewood, IL.
42. Omenn, G. S., and McKusick, V. A. (1979). The association of Waardenburg syndrome and Hirschsprung megacolon. Am. J. Med. Genet. 3: 217-233.
43. Pantke, O. A., and Cohen, M. M. (1971). The Waardenburg syndrome. Birth Defects: Orig. Art. Ser. 7: 147-152.
44. Partington, M. W. (1964). Waardenburg's syndrome and heterochromia iridis in a deaf school population. Can. Med. Assoc. J. 90: 1008-1017.
45. Pasteris, N. G., Trask, B. J., Sheldon, S., and Gorski, J. L. (1993). Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum. Mol. Genet. 2: 953-959.
46. Pavan, W. J., Mac, S., Cheng, M., and Tilghman, S. M. (1995). Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res. 5: 29-41.
47. Puffenberger, E. G., Hosoda, K., Washington, S. S., Nakao, K., deWit, D., Yanagisawa, M., and Chakravarti, A. (1994). A missense mutation of the endothelin B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257-1266.
48. Ray, D. K. (1961). Waardenburg's syndrome. Br. J. Ophthalmol. 45: 568-569.
49. Read, A. P. (1995). Pax genes - Paired feet in three camps. Nature Genet. 9: 333-334.
50. Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., and Malcolm, S. (1994). Mutations in the fibroblast growth factor 2 gene cause Crouzon syndrome. Nature Genet. 8: 98-103.
51. Reed, W. B., Stone, V. M., Boder, E., and Ziprokowski, L. (1967). Pigmentary disorders in association with congenital deafness. Arch. Dermatol. 95: 176-186.
52. Rugel, S. J., and Keates, E. U. (1965). Waardenburg's syndrome in six generations of one family. Am. J. Dis. Child. 109: 579-583.
53. Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayword, R., Jones, B., Malcolm, S., Winter, R. M., Oldridge, M., Slaney, S. F., Poole, M. D., and Wilki, A. O. M. (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 9: 173-176.
54. Shah, K. N., Dalal, S. J., Desai, M. P., Sheth, P. N., Joshi, N. C., and Ambani, L. M. (1981). White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome. J. Pediatr. 99: 432-435.
55. Sheffer, R., and Zlotogora, J. (1992). Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am. J. Med. Genet. 42: 320-322.
56. Siracusa, L. D., Buchberg, A. M., Copeland, N. G., and Jenkins, N. A. (1989). Recombinant inbred strain and interspecific backcross analysis of molecular markers flanking the murine agouti coat color locus. Genetics 122: 669-679.
57. Siracusa, L. D., Alvord, W. G., Bickmore, W. A., Jenkins, N. A., and Copeland, N. G. (1991). Interspecific backcross mice show sex-specific differences in allelic inheritance. Genetics 128: 813-821.
58. Snedecor, G. W., and Cochran, W. G. (1967). "Statistical Methods," 6th ed., Iowa State Univ. Press, Ames, IA.
59. Sommer, A., Young-Wee, T., and Frye, T. (1983). Previously undescribed syndrome of craniofacial, hand anomalies and sensorineural deafness. Am. J. Med. Genet. 15: 71-77.
60. Stoller, F. M. (1962). A deaf-mute with two congenital syndromes. Arch. Otolaryngol. 76: 42-46.
61. Tassabehji, M., Read, A. P., Newton, V. E., Harris, R., Balling, R., Gruss, P., and Strachan, T. (1992). Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355: 635-636.
62. Tassabehji, M., Newton, V. E., and Read, A. P. (1994). Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet. 8: 251-255.
63. d) mouse mutant carries a point mutation within the paired box of the Pax-3 gene. Genomics 17: 364-369.
64. Waardenburg, P. J. (1951). A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am. J. Hum. Genet. 3: 195-253.
65. Wang, L., Karmody, C. S., and Pashayan, H. (1981). Waardenburg's syndrome: Variations in expressivity. Otolaryn. Head Neck Surg. 89: 666-670.