Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)

American Journal of Human Genetics

Volumn 73, Issue 5, 2003, Pages 1082-1091

  Zhu, M ^a   Yang, T ^c   Wei, S ^a   DeWan, A T ^d   Morell, R J ^e   Elfenbein, J L ^a   Fisher, R A ^b   Leal, S M ^d,f   Smith, R J H ^c   Friderici, K H ^a,b,g  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d ROCKEFELLER UNIVERSITY   (United States)

^e NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; AMINO ACID; ESPIN; GAMMA ACTIN; MEPROBAMATE; MYOSIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; AGING; AMINO ACID ANALYSIS; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; CELL DAMAGE; CELL ULTRASTRUCTURE; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; COCHLEA; CONTROLLED STUDY; CYTOSKELETON; DISEASE ASSOCIATION; FAMILY; FEMALE; GELATION; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; HEARING IMPAIRMENT; HUMAN; MALE; MAMMAL; MISSENSE MUTATION; NOISE; NONHUMAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERIZATION; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTOZOON; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS;

MAMMALIA; PROTOZOA;

EID: 0242607215     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/379286     Document Type: Article

References (41)

1. Adams AEM, Botstein D, Drubin DG (1989) A yeast actin-binding protein is encoded by SAC6 a gene found by suppression of an actin mutation. Science 243:231-233
2. Anagnostopoulos AV (2002) A compendium of mouse knockouts with inner ear defects. Trends Genet 18:499
3. Boeda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. Embo J 21:6689-6699
4. Cruickshanks KJ, Wiley TL, Tweed TS, Klein BEK, Klein R, Mares-Perlman JA, Nondahl DM (1998) Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin. Am J Epidemiol 148:879-886
5. DeRosier DJ, Tilney LG (1989) The structure of the cuticular plate, an in vivo actin gel. J Cell Biol 109:2853-2867
6. DeStefano AL, Gates GA, Heard-Costa N, Myers RH, Baldwin CT (2003) Genomewide linkage analysis to presbycusis in the Framingham heart study. Arch Otolaryngol Head Neck Surg 129:285-289
7. DeWan AT, Parrado AR, Leal SM (2003) A second kindred linked to the DFNA20 (17q25.3) reduces the genetic interval. Clin Genet 63:39-45
8. Elfenbein JL, Fisher RA, Wei S, Morell RJ, Stewart C, Friedman TB, Friderici K (2001) Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss. Ear Hear 22:279-288
9. Fabbrizio E, Bonet-Kerrache A, Leger JJ, Mornet D (1993) Actin-dystrophin interface. Biochemistry 32:10457-10463
10. Feinberg JM, Lebart Y, Benyamin Y, Roustin C (1997) Localization of a calcium sensitive binding site for gelsolin on actin subdomain I: implication for severing process. Biochem Biophys Res Commun 233:61-65
11. Fransen E, Lemkens N, Van Laer L, Van Camp G (2003) Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects. Exp Gerontol 38:353-359
12. Gates GA, Couropmitree NN, Myers RH (1999) Genetic associations in age-related hearing thresholds. Arch Otolaryngol Head Neck Surg 125:654-659
13. Hirokawa N, Tilney LG (1982) Interactions between actin filaments and between actin filaments and membranes in quick-frozen and deeply etched hair cells of the chick ear. J Cell Biol 95:249-261
14. Hofer D, Ness W, Drenckhahn D (1997) Sorting of actin isoforms in chicken auditory hair cells. J Cell Sci 110:765-770
15. Honts JE, Sandrock TS, Brower SM, O'Dell JL, Adams AEM (1994) Actin mutations that show suppression with fimbrin mutations identify a likely fimbrin-binding site on actin. J Cell Biol 126:413-422
16. Hu BH and Henderson D (1997) Changes in F-actin in the outer hair cell and the Deiters cell in the chinchilla cochlea following noise exposure. Hear Res 110:209-218
17. Hu BH, Henderson D, Nicotera TM (2002) Involvement of apoptosis in progression of cochlear lesion following exposure to intense noise. Hear Res 166:62-71
18. Hultcrantz M, Li HS (1995) Degeneration patterns of actin distribution in the organ of corti in two genotypes of mice. ORL J Otorhinolaryngol Relat Spec 57:1-4
19. Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN (2001) Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet 68:1333-1343
20. International Organization for Standardization (1984) ISO 7029: acoustics - threshold of hearing by air conduction as a function of age and sex for otologically normal persons. International Organization for Standardization, Geneva
21. Kabsch W, Mannherz HG, Suck D, Pai EF, Holmes KC (1990) Atomic structure of the actin: DNase I complex. Nature 347: 37-44
22. Karlsson KK, Harris JR, Svartengren M (1997) Description and primary results from an audiometric study of male twins. Ear Hear 18:114-120
23. Khaitlina SY (2001) Functional specificity of actin isoforms. Int Rev Cytology 202:35-98
24. Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, Taya C, Kamiya K, Yoshikawa Y, Tokano H, Kitamura K, Shimizu K, Wakabayashi Y, Shiroishi T, Kominami R, Yonekawa H (2003) Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 12:453-461
25. Li HS, Hultcrantz M (1994) Age-related degeneration of the organ of Corti in two genotypes of mice. ORL J Otorhinolaryngol Relat Spec 56:61-67
26. McGough A, Way M, DeRosier D (1994) Determination of the α-actinin-binding site on actin filaments by cryoelectron microscopy and image analysis. J Cell Biol 126:433-443
27. Morell RJ, Friderici KH, Wei S, Elfenbein JL, Friedman TB, Fisher RA (2000) A new locus for late-onset, progressive, hereditary hearing loss DNFA20 maps to 17q25. Genomics 63:1-6
28. Morton NE (1991) Genetic epidemiology of hearing impairment. Ann NY Acad Sci 630:16-31
29. Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L (2000) Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol 32:1687-1694
30. Olson TM, Michels VV, Thibodeau SN, Tai Y-S, Keating MT (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280:750-752
31. Petit C, Levilliers J, Hardelin J-P (2001) Molecular genetics of hearing loss. Annu Rev Genet 35:589-646
32. Raphael Y (2002) Cochlear pathology, sensory cell death and regeneration. Brit Med Bull 63:25-38
33. Schneider ME, Belyantseva IA, Azevedo RB, Kachar B (2002) Rapid renewal of auditory hair bundles. Nature 418:837-838
34. Schuknecht H, Gacek M (1993) Cochlear pathology in presbycusis. Ann Otol Rhinol Laryngol 102:1-16
35. Sheterline P, Clayton J, Sparrow JC (1998) Actin. Oxford University Press, New York
36. Soucek S, Michaels L, Frohlich A (1987) Pathological changes in the organ of Corti in presbyacusis as revealed by microslicing and staining. Acta Otlaryngol Suppl 436:93-102
37. Steel KP (1998) Progress in progressive hearing loss. Science 279:1870-1871
38. Tilney LG, Egelman EH, DeRosier DJ and Saunder JC (1983) Actin filaments, stereocilia, and hair cells of the bird cochlea. II. Packing of actin filaments in the stereocilia and in the cuticular plate and what happens to the organization when the sterocilia are bent. J Cell Biol 96:822-834
39. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (2003) Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 12:463-471
40. Yang T, Smith AJH (2000) A novel locus DFNA 26 maps to chromosome 17q25 in two unrelated families with progressive autosomal dominant hearing loss. Am J Hum Genet Suppl 67:300
41. Zuo J (2002) Transgenic and gene targeting studies of hair cells function in mouse inner ear. J Neurobiol 53:286-305