Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

Molecular Vision

Volumn 16, Issue , 2010, Pages 1898-1906

  Rebeh, Imen Ben ^a   Morinière, Madeleine ^b   Ayadi, Leila ^a   Benzina, Zeineb ^c   Charfedine, Ilhem ^c   Feki, Jamel ^c   Ayadi, Hammadi ^a   Ghorbel, Abdelmonem ^c   Baklouti, Faouzi ^b   Masmoudi, Saber ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b UNIVERSITÉ LYON 1   (France)

^c Service d'Ophtalmologie   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; MESSENGER RNA; METHIONINE; MYOSIN VIIA;

ADULT; AGED; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 11Q; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE SEQUENCE; GENETIC LINKAGE; GENETIC TRANSFECTION; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; HUMAN CELL; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MYO7A GENE; OPHTHALMOSCOPY; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINITIS PIGMENTOSA; RETINOPATHY;

ADOLESCENT; ADULT; AGED; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; CHILD; CHROMOSOME SEGREGATION; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENOTYPE; HELA CELLS; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION, MISSENSE; MYOSINS; PEDIGREE; RETINAL DISEASES; RNA SPLICE SITES; STRUCTURAL HOMOLOGY, PROTEIN;

EID: 78149488928     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. 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; 125:557-66.
2. Kros CJ, Marcotti W, van Netten SM, Self TJ, Libby RT, Brown SD, Richardson GP, Steel KP. Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nat Neurosci 2002; 5:41-7.
3. Wolfrum U, Liu X, Schmitt A, Udovichenko IP, Williams DS. Myosin VIIa as a common component of cilia and microvilli. Cell Motil Cytoskeleton 1998; 40:261-71.
4. El-Amraoui A, Schonn JS, Küssel-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; 3:463-70.
5. Gibbs D, Azarian SM, Lillo C, Kitamoto J, Klomp AE, Steel KP, Libby RT, Williams DS. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J Cell Sci 2004; 117:6473-83.
6. Liu X, Udovichenko IP, Brown SD, Steel KP, Williams DS. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci 1999; 19:6267-74.
7. Gibbs D, Kitamoto J, Williams DS. Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Proc Natl Acad Sci USA 2003; 100:6481-6.
8. Keats BJ, Corey DP. The usher syndromes. Am J Med Genet 1999; 89:158-66.
9. 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; 63:909-12.
10. 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 1997; 16:188-90.
11. 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 1997; 17:268-9.
12. Zina ZB, Masmoudi S, Ayadi H, Chaker F, Ghorbel AM, Drira M, Petit C. From DFNB2 to Usher syndrome: variable expressivity of the same disease. Am J Med Genet 2001; 101:181-3.
13. Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 2008; 29:502-11.
14. Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997; 25:3389-402.
15. Gulick AM, Bauer CB, Thoden JB, Pate E, Yount RG, Rayment I. X-ray structures of the Dictyostelium discoideum myosin motor domain with six non-nucleotide analogs. J Biol Chem 2000; 275:398-408.
16. Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993; 234:779-815.
17. Laskowski RA, Rullmannn JA, MacArthur MW, Kaptein R, Thornton JM. AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR. J Biomol NMR 1996; 8:477-86.
18. Guex N, Peitsch MC. SWISS-MODEL and the Swiss- PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18:2714-23.
19. Berezin C, Glaser F, Rosenberg J, Paz I, Pupko T, Fariselli P, Casadio R, Ben-Tal N. ConSeq: the identification of functionally and structurally important residues in protein sequences. Bioinformatics 2004; 20:1322-4.
20. Fraczkiewicz R, Braun W. Exact and efficient analytical calculation of the accessible surface areas and their gradients for macromolecules. J Comput Chem 1998; 19:319-333.
21. Deguillien M, Huang SC, Morinière M, Dreumont N, Benz EJ Jr, Baklouti F. Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation. Blood 2001; 98:3809-16.
22. Coureux PD, Wells AL, Menetrey J, Yengo CM, Morris CA, Sweeney HL, Houdusse A. A structural state of the myosin V motor without bound nucleotide. Nature 2003; 425:419-23.
23. Vilboux T, Chaudieu G, Jeannin P, Delattre D, Hedan B, Bourgain C, Queney G, Galibert F, Thomas A, André C. Progressive Retinal Atrophy in the Border Collie: A new XLPRA. BMC Vet Res 2008; 4:10.
24. Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet 2010; 77:563-71.
25. Weil D, Kussel 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. Nat Genet 1997; 16:191-3.
26. Holmes KC, Geeves MA. The structural basis of muscle contraction. Philos Trans R Soc Lond B Biol Sci 2000; 355:419-31.
27. Watanabe S, Umeki N, Ikebe R, Ikebe M. Impacts of Usher Syndrome Type IB Mutations on Human Myosin VIIa Motor Function. Biochemistry 2008; 47:9505-13.
28. Schwander M, Lopes V, Sczaniecka A, Gibbs D, Lillo C, Delano D, Tarantino LM, Wiltshire T, Williams DS, Müller U. A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. J Neurosci 2009; 29:15810-8.
29. Boulouiz R, Yun L, Omar A, Hanno B, Abdelaziz C, Christian K, Rouba H, Wollnik B, Barakat A. Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel lossof- function mutation and non-pathogenicity of p.Y1719C. Mol Vis 2007; 13:1862-5.
30. Le Guédard-Méreuze S, Vaché C, Baux D, Faugère V, Larrieu L, Abadie C, Janecke A, Claustres M, Roux AF, Tuffery-Giraud S. Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. Hum Mutat 2010; 31:347-55.
31. Neu-Yilik G, Kulozik AE. NMD: multitasking between mRNA surveillance and modulation of gene expression. Adv Genet 2008; 62:185-243.
32. Haj Khelil A, Deguillien M, Morinière M, Ben Chibani J, Baklouti F. Cryptic splicing sites are differentially utilized in vivo. FEBS J 2008; 275:1150-62.
33. Yu Y, Maroney PA, Denker JA, Zhang XH, Dybkov O, Lührmann R, Jankowsky E, Chasin LA, Nilsen TW. Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition. Cell 2008; 135:1224-36.