The role of mouse mutants in the identification of human hereditary hearing loss genes

Hearing Research

Volumn 130, Issue 1-2, 1999, Pages 1-6

  Probst, Frank J ^a   Camper, Sally A ^a  

^a 4301 MSRB III 1500 W Med Ctr D   (United States)

Author keywords

Deafness; Mouse; Usher syndrome; Waardenburg syndrome

Indexed keywords

ANIMAL MODEL; AUDITORY SYSTEM; DISEASE ASSOCIATION; GENE; GENE ISOLATION; GENE MAPPING; GENE MUTATION; HEARING LOSS; MICROPHTHALMIA; MOUSE; NONHUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVIEW; SEQUENCE HOMOLOGY; USHER SYNDROME; WAARDENBURG SYNDROME;

ANIMALS; DISEASE MODELS, ANIMAL; EYE ABNORMALITIES; HEARING DISORDERS; HUMANS; MICE; MICE, MUTANT STRAINS;

EID: 0032964783     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-5955(98)00231-7     Document Type: Review

References (60)

1. Adato A., Weil D., Kalinski H., Pel-Or Y., Ayadi H., Petit C., Korostishevsky M., Bonne-Tamir B. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am. J. Hum. Genet. 61:1997;813-821.
2. Arias S. Genetic heterogeneity in the Waardenburg Syndrome. Birth Defects Orig. Artic. Ser. 7:1971;87-101.
3. Asher J.H.J., Friedman T.B. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J. Med. Genet. 27:1990;618-626.
4. Asher J.H.J., Morell R., Friedman T.B. Waardenburg syndrome (WS): The analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2. Am. J. Hum. Genet. 48:1991;43-52.
5. Asher J.H.J., Sommer A., Morell R., Friedman T.B. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum. Mutat. 7:1996;30-35.
6. Baldwin C.T., Hoth C.F., Amos J.A., da-Silva E.O., Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature. 355:1992;637-638.
7. Brown K.A., Sutcliffe M.J., Steel K.P., Brown S.D.M. Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1. Genomics. 13:1992;189-193.
8. Copeland N.G., Jenkins N.A., Gilbert D.J., Eppig J.T., Maltais L.J., Miller J.C., Dietrich W.F., Weaver A., Lincoln S.E., Steen R.G., Stein L.D., Nadeau J.H., Lander E.S. A genetic linkage map of the mouse: Current applications and future prospects. Science. 262:1993;57-66.
9. Deol M.S. Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo. Nature. 209:1966;219-220.
10. Deol M.S. The neural crest and the acoustic ganglion. J. Embryol. Exp. Morphol. 17:1967;533-541.
11. Dobrovolskaia-Zavasdkaia N. L'irradiation des testicules et l'hérédité chez la souris. Arch. Biol. 38:1928;457-501.
12. 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell. 67:1991;767-774.
13. Epstein D.J., Vogan K.J., Trasler D.G., Gros P. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proc. Natl. Acad. Sci. USA. 90:1993;532-536.
14. Erkman L., McEvilly R.J., Luo L., Ryan A.K., Hooshmand F., O'Connell S.M., Keithley E.M., Rapaport D.H., Ryan A.F., Rosenfeld M.G. Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature. 381:1996;603-606.
15. Foy C., Newton V., Wellesley D., Harris R., Read A.P. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. Am. J. Hum. Genet. 46:1990;1017-1023.
16. Friedman T.B., Liang Y., Weber J.L., Hinnant J.T., Barber T.D., Winata S., Arhya I.N., Asher J.H.J. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet. 9:1995;86-91.
17. Gibson F., Walsh J., Mburu P., Vareia A., Brown K.A., Antonio M., Beisel K.W., Steel K.P., Brown S.D.M. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature. 374:1995;62-64.
18. Goulding M.D., Chalepakis G., Deutsch U., Erselius J.R., Gruss P. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J. 10:1991;1135-1147.
19. Guilford P., Ayadi H., Blanchard S., Chaib H., Le Paslier D., Weissenbach J., Drira M., Petit C. A human gene responsible for neurosensory, nonsyndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3:1994;989-993.
20. Hageman M.J., Delleman J.W. Heterogeneity in Waardenburg syndrome. Am. J. Hum. Genet. 29:1977;468-485.
21. Hertwig P. Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z. Indukt. Abstamm. Vererb.lehre. 80:1942;220-246.
22. Hodgkinson C.A., Moore K.J., Nakayama A., Steingrimsson E., Copeland N.G., Jenkins N.A., Arnheiter H. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 74:1993;395-404.
23. Hoth C.F., Milunsky A., Lipsky N., Sheffer R., Clarren S.K., Baldwin C.T. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WSI). Am. J. Hum. Genet. 52:1993;455-462.
24. Hughes A.E., Newton V.E., Liu X.Z., Read A.P. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet. 7:1994;509-512.
25. Kalatzis V., Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum. Mol. Genet. 7:1998;1589-1597.
26. Kimberling W.J., Möller C.G., Davenport S., Priluck I.A., Beighton P.H., Greenberg J., Reardon W., Weston M.D., Kenyon J.B., Grunkemeyer J.A., Dahl S.P., Overbeck L.D., Blackwood D.J., Brower A.M., Hoover D.M., Rowland P., Smith R.J.H. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 14:1992;988-994.
27. Levy G., Levi-Acobas F., Blanchard S., Gerber S., Larget-Piet D., Chenal V., Liu X.-Z., Newton V., Steel K.P., Brown S.D.M., Munnich A., Kaplan J., Petit C., Weil D. Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB. Hum. Mol. Genet. 6:1997;111-116.
28. Liang Y., Wang A., Probst F.J., Arhya I.N., Barber T.D., Chen K., Deshmukh D., Dolan D.F., Hinnant J.T., Carter L.E., Jain P.K., Lalwani A.K., Li X.C., Lupski J.R., Moeljopawiro K., Morell R., Negrini C., Wilcox E.R., Winata S., Camper S.A., Friedman T.B. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3 and supports homology to the mouse model shaker-2. Am. J. Hum. Genet. 62:1998;904-915.
29. Liu X., Walsh J., Mburu P., Kendrick-Jones J., Cope M.J.T.V., Steel K.P., Brown S.D.M. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genet. 16:1997;188-190.
30. Liu X., Walsh J., Tamagawa Y., Kitamura K., Nishizawa M., Steel K.P., Brown S.D.M. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genet. 17:1997;268-269.
31. Liu X.-Z., Newton V.E., Steel K.P., Brown S.D.M. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum. Mutat. 10:1997;168-170.
32. Lord E.M., Gates W.H. Shaker, a new mutation of the house mouse (Mus musculus). Am. Nat. 63:1929;435-442.
33. Moase C.E., Trasler D.G. Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans. J. Med. Genet. 29:1992;145-151.
34. Morell R., Friedman T.B., Moeljopawiro S., Hartono S., Asher J.H.J. A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum. Mol. Genet. 1:1992;243-247.
35. Probst F.J., Fridell R.A., Raphael Y., Saunders T.L., Wang A., Liang Y., Morell R.J., Touchman J.W., Lyons R.H., Noben-Trauth K., Friedman T.B., Camper S.A. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science. 280:1998;1444-1447.
36. Russell W.L. Splotch, a new mutation in the house mouse, Mus musculus. Genetics. 32:1947;102.
37. Self T., Mahony M., Fleming J., Walsh J., Brown S.D.M., Steel K.P. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development. 125:1998;557-566.
38. Smith R.J.H., Lee E.C., Kimberling W.J., Daiger S.P., Pelias M.Z., Keats B.J.B., Jay M., Bird A., Reardon W., Guest M., Ayyagari R., Hejtmancik J.F. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 14:1992;995-1002.
39. Smith S.D., Kenyon J.B., Kelley P.M., Hoover D., Comer B. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. Am. J. Hum. Genet. 61:(Suppl.):1997;A347.
40. Snell G.D., Law L.W. A linkage between shaker-2 and wavy-2 in the house mouse. J. Hered. 30:1939;447.
41. Snell G.D., Dickie M.M., Smith P., Kelton D.E. Linkage of loop-tail, leaden, Splotch and fuzzy in the mouse. J. Hered. 8:1954;271-273.
42. Sommer A., Young-Wee T., Frye T. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am. J. Med. Genet. 15:1983;71-77.
43. Steel K.P. Inherited hearing defects in mice. Annu. Rev. Genet. 29:1995;675-701.
44. Steel K.P., Barkway C. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development. 107:1989;453-463.
45. Steingrimsson E., Moore K.J., Lamoreux M.L., Ferre-D'Amare A.R., Burley S.K., Zimring D.C.S., Skow L.C., Hodgkinson C.A., Arnheiter H., Copeland N.G., Jenkins N.A. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature Genet. 8:1994;256-263.
46. Tamagawa Y., Kitamura K., Ishida T., Ishikawa K., Tanaka H., Tsuji S., Nishizawa M. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum. Mol. Genet. 5:1996;849-852.
47. Tassabehji M., Read A.P., Newton V.E., Harris R., Balling R., Gruss P., Strachan T. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature. 355:1992;635-636.
48. Tassabehji M., Newton V., Read A.P. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet. 8:1994;251-255.
49. Theil T., Zechner U., Klett C., Adolph S., Moroy T. Chromosomal localization and sequences of the murine Brn-3 family of developmental control genes. Cytogenet. Cell Genet. 66:1994;267-271.
50. Tietz W. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am. J. Hum. Genet. 15:1963;259-264.
51. Vahava O., Morell R., Lynch E.D., Weiss S., Kagan M.E., Ahituv N., Morrow J.E., Lee M.K., Skvorak A.B., Morton C.C., Blumenfeld A., Frydman M., Friedman T.B., King M., Avraham K.B. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science. 279:1998;1950-1954.
52. Van Camp G., Smith, R.J.H., 1998. Hereditary Hearing Loss Homepage. World Wide Web URL: http://dnalab-www.uia.ac.be/dnalab/hhh/.
53. Waardenburg P.J. 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. 3:1951;195-253.
54. Wakabayashi Y., Kikkawa Y., Matsumoto Y., Shinbo T., Kosugi S., Chou D., Furuya M., Jishage K., Noda T., Yonekawa H., Kominami R. Genetic and physical delineation of the region of the mouse deafness mutation shaker-2. Biochem. Biophys. Res. Commun. 234:1997;107-110.
55. Wakabayashi Y., Takahashi Y., Kikkawa Y., Okano H., Mishima Y., Ushiki T., Yonekawa H., Kominami R. A novel type of myosin encoded by the mouse deafness gene shaker-2. Biochem. Biophys. Res. Commun. 248:1998;655-659.
56. Wang A., Liang Y., Fridell R.A., Probst F.J., Wilcox E.R., Touchman J.W., Morton C.C., Morell R.J., Noben-Trauth K., Camper S.A., Friedman T.B. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 280:1998;1447-1451.
57. Weil D., Blanchard S., Kaplan J., Builford P., Gibson F., Walsh J., Mburu P., Vareia A., Levilliers J., Weston M.D., Kelley P.M., Kimberling W.J., Wagenaar M., Levi-Acobas F., Larget-Piet D., Munnich A., Steel K.P., Brown S.D.M., Petit C. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 374:1995;60-61.
58. Weil D., Kuessel P., Blanchard S., Levy G., Levi-Acobas F., Drira M., Ayadi H., Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature Genet. 16:1997;191-193.
59. Weston M.D., Kelley P.M., Overbeck L.D., Wagenaar M., Orten D.J., Hasson T., Chen Z.-Y., Corey D., Mooseker M., Sumegi J., Cremers C., Möller C., Jacobson S.G., Gorin M.B., Kimberling W.J. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am. J. Hum. Genet. 59:1996;1074-1083.
60. Xiang M., Gan L., Li D., Chen Z., Zhou L., O'Malley J., Klein W., Nathans J. Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. Proc. Natl. Acad. Sci. USA. 94:1997;9445-9450.