Otoferlin蛋白与听毛细胞突触传导
郭旭尧;袁伟;张学渊;
1:第三军医大学附属西南医院耳鼻咽喉-头颈外科





1 Yasunaga S,Grati M,Chardenoux S,et al.A mutation in OT-OF,encoding otoferlin,a FER-1-like protein,causes DFNB9,a nonsyndromic form of deafness[J].Nat Genet,1999,21:363.
2 Yasunaga S,Grati M,Chardenoux S,et al.Physical map of the region surrounding the OTOFERLIN locus on chromosome2p22-p23[J].Genomics,2000,66:110.
3 Yasunaga S,Grati M,Chardenoux S,et al.OTOF encodes mul-tiple long and short isoforms:genetic evidence that the long ones underlie recessive deafness DFNB9[J].Am J Hum Genet,2000,67:591.
4 Johnson SL,Forge A,Knipper M,et al.Tonotopic variation in the calcium dependence of neurotransmitter release and vesicle pool replenishment at mammalian auditory ribbon synapses[J].J Neurosci,2008,28:7 670.
5 Lek A,Lek M,North KN,et al.Phylogenetic analysis of ferlingenes reveals ancient eukaryotic origins[J].BMC Evol Biol,2010,10:231.
6 Pangrsic T,Lasarow L,Reuter K,et al.Hearing requires oto-ferlin-dependent efficient replenishment of synaptic vesicles in hair cells[J].Nat Neurosci,2010,13:869.
7 Johnson CP,Chapman ER.Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion[J].J Cell Biol,2010,191:187.
8 Helfmann S,Neumann P,Tittmann K,et al.The crystal struc-ture of the C?A domain of otoferlin reveals an unconventional top loop region[J].J Mol Biol,2011,406:479.
9 Schug N,Braig C,Zimmermann U,et al.Differential expression of otoferlin in brain,vestibular system,immature and mature cochlea of the rat[J].Eur J Neurosci,2006,24:3 372.
10 Roux I,Safieddine S,Nouvian R,et al.Otoferlin,defective in a human deafness form,is essential for exocytosis at the audito-ry ribbon synapse[J].Cell,2006,127:277.
11 Goodyear RJ,Legan PK,Christiansen JR,et al.Identification of the hair cell soma-1antigen,HCS-1,as otoferlin[J].J Assoc Res Otolaryngol,2010,11:573.
12 Zak M,Pfister M,Blin N.The otoferlin interactome in neu-rosensory hair cells:significance for synaptic vesicle release and trans-Golgi network[J].Int J Mol Med,2011,28:311.
13 Roberts WM.Snaring otoferlin's role in deafness[J].Cell,2006,127:258.
14 Ramakrishnan NA,Drescher MJ,Drescher DG.Direct inter-action of otoferlin with syntaxin1A,SNAP-25,and the L-type voltage-gated calcium channel Cavl1.3[J].J Biol Chem,2009,284:1 364.
15 Beurg M,Michalski N,Safieddine S,et al.Control of exocyto-sis by synaptotagmins and otoferlin in auditory hair cells[J].J Neurosci,2010,30:13 281.
16 Reisinger E,Bresee C,Neef J,et al.Probing the functional e-quivalence of otoferlin and synaptotagmin 1in exocytosis[J].J Neurosci,2011,31:4 886.
17 Pangrsic T,Lasarow L,Reuter K,et al.Hearing requires oto-ferlin-dependent efficient replenishment of synaptic vesicles in hair cells[J].Nat Neurosci,2010,13:869.
18 Heidrych P,Zimmermann U,Kuhn S,et al.Otoferlin interacts with myosin VI:implications for maintenance of the basolat-eral synaptic structure of the inner hair cell[J].Hum Mol Genet,2009,18:2 779.
19 Roux I,Hosie S,Johnson SL,et al.Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses[J].Hum Mol Genet,2009,18:4 615.
20 Engel J,Braig C,Rüttiger L,et al.Two classes of outer hair cells along the tonotopic axis of the cochlea[J].Neuroscience,2006,143:837.
21 Beurg M,Safieddine S,Roux I,et al.Calcium-and otoferlin-dependent exocytosis by immature outer hair cells[J].J Neurosci,2008,28:1 798.
22 Johnson SL,Franz C,Knipper M,et al.Functional maturation of the exocytotic machinery at gerbil hair cell ribbon synapses[J].J Physiol,2009,587:1 715.
23 Brandt N,Kuhn S,Münkner S,et al.Thyroid hormone defi-ciency affects postnatal spiking activity and expression of Ca2+and K+channels in rodent inner hair cells[J].J Neurosci,2007,27:3 174.
24 Schnowatzki E,Grant L,Fuchs P.Hair cell afferent synapses[J].Curr Opin Neurobiol,2008,18:389.
25 Heidrych P,Zimmermann U,Bress A,et al.Rab8bGTPase,aprotein transport regulator,is an interacting partner of otoferlin,defective in a human autosomal recessive deafness form [J].Hum Mol Uenet.2008.17.3 814.