Actin in hair cells and hearing loss

被引：52

作者：

Drummond, Meghan C. ^{[1
]}

Belyantseva, Inna A. ^{[1
]}

Friderici, Karen H. ^{[2
]}

Friedman, Thomas B. ^{[1
]}

机构：

[1] Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA

[2] Michigan State Univ, Dept Microbiol & Mol Genet, Dept Pediat & Human Dev, E Lansing, MI 48824 USA

来源：

HEARING RESEARCH | 2012年 / 288卷 / 1-2期

关键词：

NONSYNDROMIC RECESSIVE DEAFNESS; GENOTYPE-PHENOTYPE CORRELATION; CYTOPLASMIC GAMMA-ACTIN; USHER-SYNDROME PROTEINS; MYOSIN-VIIA GENE; BETA-ACTIN; INNER-EAR; AUTOSOMAL-DOMINANT; UNCONVENTIONAL MYOSIN; TIP-LINK;

D O I：

10.1016/j.heares.2011.12.003

中图分类号：

R36 [病理学]; R76 [耳鼻咽喉科学];

学科分类号：

100104 ; 100213 ;

摘要：

Hereditary deafness is genetically heterogeneous such that mutations of many different genes can cause hearing loss. This review focuses on the evidence and implications that several of these deafness genes encode actin-interacting proteins or actin itself. There is a growing appreciation of the contribution of the actin interactome in stereocilia development, maintenance, mechanotransduction and malfunction of the auditory system. Published by Elsevier B.V.

引用

页码：89 / 99

页数：11

共 158 条

[71] Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family [J].

Liu, Ping ;

Li, Hu ;

Ren, Xiang ;

Mao, Haiyan ;

Zhu, Qihui ;

Zhu, Zhengfeng ;

Yang, Rong ;

Yuan, Wenlin ;

Liu, Jingyu ;

Wang, Qing ;

Liu, Mugen .

JOURNAL OF GENETICS AND GENOMICS, 2008, 35 (09) :553-558

[72] Mutations in the myosin VIIA gene cause non-syndromic recessive deafness [J].

Liu, XZ ;

Walsh, J ;

Mburu, P ;

KendrickJones, J ;

Cope, MJTV ;

Steel, KP ;

Brown, SDM .

NATURE GENETICS, 1997, 16 (02) :188-190

[73] β- and γ-actin genes differ in their mechanisms of down-regulation during myogenesis [J].

Lloyd, C ;

Gunning, P .

JOURNAL OF CELLULAR BIOCHEMISTRY, 2002, 84 (02) :335-342

[74] TRANSCRIPTIONAL CONTROL OF GENE EXPRESSION BY ACTIN AND MYOSIN [J].

Louvet, Emilie ;

Percipalle, Piergiorgio .

INTERNATIONAL REVIEW OF CELL AND MOLECULAR BIOLOGY, VOL 272, 2009, 272 :107-+

[75] Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11) [J].

Luijendijk, MWJ ;

van Wijk, E ;

Bischoff, AMLC ;

Krieger, E ;

Huygen, PLM ;

Pennings, RJE ;

Brunner, HG ;

Cremers, CWRJ ;

Cremers, FPM ;

Kremer, H .

HUMAN GENETICS, 2004, 115 (02) :149-156

[76] Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous [J].

Lynch, ED ;

Lee, MK ;

Morrow, JE ;

Welcsh, PL ;

Leon, PE ;

King, MC .

SCIENCE, 1997, 278 (5341) :1315-1318

[77] Regulation of Stereocilia Length by Myosin XVa and Whirlin Depends on the Actin-Regulatory Protein Eps8 [J].

Manor, Uri ;

Disanza, Andrea ;

Grati, M'Hamed ;

Andrade, Leonardo ;

Lin, Harrison ;

Di Fiore, Pier Paolo ;

Scita, Giorgio ;

Kachar, Bechara .

CURRENT BIOLOGY, 2011, 21 (02) :167-172

[78] Dynamic length regulation of sensory stereocilia [J].

Manor, Uri ;

Kachar, Bechara .

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 2008, 19 (06) :502-510

[79] MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss [J].

Melchionda, S ;

Ahituv, N ;

Bisceglia, L ;

Sobe, T ;

Glaser, F ;

Rabionet, R ;

Arbones, ML ;

Notarangelo, A ;

Di Iorio, E ;

Carella, M ;

Zelante, L ;

Estivill, X ;

Avraham, KB ;

Gasparini, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (03) :635-640

[80] The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development [J].

Mogensen, Mette M. ;

Rzadzinska, Agnieszka ;

Steel, Karen R. .

CELL MOTILITY AND THE CYTOSKELETON, 2007, 64 (07) :496-508

← 3 4 5 6 7 8 9 10 11 12 →