Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)

Audiology and Neurotology

Volumn 11, Issue 3, 2006, Pages 157-164

  Di Leva, Francesca ^a,b   D'Adamo, Pio ^c   Cubellis, Maria Vittoria ^a   D'Eustacchio, Angela ^c   Errichiello, Monica ^a   Saulino, Claudio ^a   Auletta, Gennaro ^a   Giannini, Pasquale ^a   Donaudy, Francesca ^c   Ciccodicola, Alfredo ^b   Gasparini, Paolo ^c,d   Franzè, Annamaria ^a,b   Marciano, Elio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Dominant hearing loss; Missense mutation; Molecular modelling; Motor head domain; Myosin VIIA

Indexed keywords

MYOSIN VIIA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; FAMILY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; ITALY; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SCHOOL CHILD; STATISTICAL SIGNIFICANCE; VESTIBULAR SYSTEM;

AMINO ACID SEQUENCE; AUDITORY THRESHOLD; BASE SEQUENCE; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; DYNEIN ATPASE; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSINS; PEDIGREE; VESTIBULAR DISEASES;

EID: 33645990900     PISSN: 14203030     EISSN: 14219700     Source Type: Journal    
DOI: 10.1159/000091199     Document Type: Article

References (32)

1. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C: Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 2004;14:347-356.
2. Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A: Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat 2004;24:274-275.
3. Chen Z, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling W, Mooseker MS, Corey DP: Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics 1996;36:440-444.
4. Chen LF, Winkler H, Reedy MK, Reedy MC, Taylor KA: Molecular modelling of averaged rigor crossbridges from tomograms of insect flight muscle. J Struct Biol 2002;138:92-104.
5. El-Amraoui A, Schonn JS, Kussel-Andermann P, Blanchard S, Desnos C, Henry JP, Wolfrum U, Darchen F, Petit C: MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep 2002;3:463-470.
6. Houdusse A, Kalabokis VN, Himmel D, Szent-Gyorgyi AG, Cohen C: Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head. Cell 1999;97:459-470.
7. Kussel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C: Unconventional myosin VIIA is a novel A-kinase-anchoring protein. J Biol Chem 2000a;275:29654-29659.
8. Kussel-Andermann P, El-Amraoui A, Safieddine S, Nouaille S, Perfettini I, Lecuit M, Cossart P, Wolfrum U, Petit C: Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J 2000b;19:6020-6029.
9. Levy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D: Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 1997;6:111-116.
10. Linn H, Ermekova KS, Rentschler S, Sparks AB, Kay BK, Sudol M: Using molecular repertoires to identify high-affinity peptide ligands of the WW domain of human and mouse YAP. J Biol Chem 1997;378:531-537.
11. Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD: Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 1998;63:909-912.
12. Liu X, Udovichenko IP, Brown SD, Steel KP, Williams DS: Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci 1999;19:6267-6274.
13. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD: Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997a;16:188-190.
14. Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD: Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997b;17:268-269.
15. Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H: Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 2004;115:149-156.
16. Mizuguchi K, Deane CM, Blundell TL, Overington JP: HOMSTRAD: a database of protein structure alignments for homologous families. Protein Sci 1998;7:2469-2471.
17. Pires JR, Taha-Nejad F, Toepert F, Ast T, Hoffmuller U, Schneider-Mergener J, Kuhne R, Macias MJ, Oschkinat H: Solution structures of the YAP65 WW domain and the variant L30 K in complex with the peptides GTPPPPYTVG, N-(n-Octyl)-GPPPY and PLPPY and the application of peptide libraries reveal a minimal binding epitope. J Mol Biol 2001;314:1147-1156.
18. Rehm HL: Genetics and the genome project. Ear Hear 2003;24:270-274.
19. Sahly I, El-Amraoui A, Abitbol M, Petit C, Dufier JL: Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (Berl) 1997;196:159-170.
20. Sali A, Blundell TL: Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993;234:779-815.
21. Sayle RA, Milner-White EJ: RASMOL: biomolecular graphics for all. Trends Biochem Sci 1995;20:374-376.
22. Self T, Mahony M, Fleming J, Walsh J, Brown SD, Steel KP: Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 1998;125:557-566.
23. Shi J, Blundell TL, Mizuguchi K: FUGUE: sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties. J Mol Biol 2001;310:243-257.
24. Smith CA, Rayment I: X-ray structure of the magnesium (II).ADP. vanadate complex of the Dictyostelium discoideum myosin motor domain to 1.9 A resolution. Biochemistry 1996;35:5404-5417.
25. Street VA, Kallman JC, Kiemele KL: Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. J Med Genet 2004;41:e62.
26. Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K: Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope 2002;112:292-297.
27. Verdecia MA, Bowman ME, Lu KP, Hunter T, Noel JP: Structural basis for phosphoserine-proline recognition by group IV WW domains Nat Struct Biol 2000;7:639-643.
28. Vriend GJ: WHAT IF: A molecular modeling and drug design program. Mol Graph 1990;8:52-56.
29. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C: Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995;374:60-61.
30. Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 1996;59:1074-1083.
31. Wolfrum U, Liu X, Schmitt A, Udovichenko IP, Williams DS: Myosin VIIa as a common component of cilia and microvilli. Cell Motil Cytoskeleton 1998;40:261-271.
32. Zarrinpar A, Lim WA: Converging on proline: the mechanism of WW domain peptide recognition. Nat Struct Biol 2000;7:611-613.