当前位置： SCI文献检索 > MOLECULAR AND CELLULAR BIOLOGY期刊下所有文献 > Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.

Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.

Abstract：

:Sensory hair cells convert mechanical motion into chemical signals. Otoferlin, a six-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a role in exocytosis at hair cell ribbon synapses. To date, however, otoferlin has been studied almost exclusively in mouse models, and no rescue experiments have been reported. Here we describe the phenotype associated with morpholino-induced otoferlin knockdown in zebrafish and report the results of rescue experiments conducted with full-length and truncated forms of otoferlin. We found that expression of otoferlin occurs early in development and is restricted to hair cells and the midbrain. Immunofluorescence microscopy revealed localization to both apical and basolateral regions of hair cells. Knockdown of otoferlin resulted in hearing and balance defects, as well as locomotion deficiencies. Further, otoferlin morphants had uninflated swim bladders. Rescue experiments conducted with mouse otoferlin restored hearing, balance, and inflation of the swim bladder. Remarkably, truncated forms of otoferlin retaining the C-terminal C2F domain also rescued the otoferlin knockdown phenotype, while the individual N-terminal C2A domain did not. We conclude that otoferlin plays an evolutionarily conserved role in vertebrate hearing and that truncated forms of otoferlin can rescue hearing and balance.

journal_name

Mol Cell Biol

journal_title

Molecular and cellular biology

authors

Chatterjee P,Padmanarayana M,Abdullah N,Holman CL,LaDu J,Tanguay RL,Johnson CP

doi

10.1128/MCB.01439-14

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

1043-54

issue

6

eissn

0270-7306

issn

1098-5549

pii

MCB.01439-14

journal_volume

35

pub_type

杂志文章

相关文献

MOLECULAR AND CELLULAR BIOLOGY文献大全
  • A transcriptional insulator element, the su(Hw) binding site, protects a chromosomal DNA replication origin from position effects.

    abstract：:Eukaryotic chromosomes are organized into domains of activity for both transcription and DNA replication. Transcriptional "border," or "insulator," elements have been implicated in mediating the organization of transcriptional domains. However, the DNA sequence elements which might demarcate domains of DNA replication...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.17.4.2202

    authors： Lu L,Tower J

    更新日期：1997-04-01 00:00:00

  • PSF is a novel corepressor that mediates its effect through Sin3A and the DNA binding domain of nuclear hormone receptors.

    abstract：:Members of the type II nuclear hormone receptor subfamily (e.g., thyroid hormone receptors [TRs], retinoic acid receptors, retinoid X receptors [RXRs], vitamin D receptor, and the peroxisome proliferator-activated receptors) bind to their response sequences with or without ligand. In the absence of ligand, these DNA-b...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.21.7.2298-2311.2001

    authors： Mathur M,Tucker PW,Samuels HH

    更新日期：2001-04-01 00:00:00

  • Hypersensitivity of aryl hydrocarbon receptor-deficient mice to lipopolysaccharide-induced septic shock.

    abstract：:Aryl hydrocarbon receptor (AhR), a ligand-activated transcription factor, is known to mediate a wide variety of pharmacological and toxicological effects caused by polycyclic aromatic hydrocarbons. Recent studies have revealed that AhR is involved in the normal development and homeostasis of many organs. Here, we demo...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.00337-09

    authors： Sekine H,Mimura J,Oshima M,Okawa H,Kanno J,Igarashi K,Gonzalez FJ,Ikuta T,Kawajiri K,Fujii-Kuriyama Y

    更新日期：2009-12-01 00:00:00

  • Regulated expression of a mammalian nonsense suppressor tRNA gene in vivo and in vitro using the lac operator/repressor system.

    abstract：:We have exploited the Escherichia coli lac operator/repressor system as a means to regulate the expression of a mammalian tRNA gene in vivo and in vitro. An oligonucleotide containing a lac operator (lacO) site was cloned immediately upstream of a human serine amber suppressor (Su+) tRNA gene. Insertion of a single la...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.12.10.4271

    authors： Syroid DE,Tapping RI,Capone JP

    更新日期：1992-10-01 00:00:00

  • The first pre-rRNA-processing event occurs in a large complex: analysis by gel retardation, sedimentation, and UV cross-linking.

    abstract：:The first processing event that mouse pre-rRNA undergoes occurs within the external transcribed spacer and is efficiently reproduced in vitro. Analysis with nondenaturing polyacrylamide gels revealed the formation of heparin-resistant complexes of retarded electrophoretic mobility on the substrate rRNA. The specificit...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.10.9.4920

    authors： Kass S,Sollner-Webb B

    更新日期：1990-09-01 00:00:00

  • Cleavage and cytoplasmic relocalization of histone deacetylase 3 are important for apoptosis progression.

    abstract：:The apoptotic process is accompanied by major changes in chromatin structure and gene expression. The apoptotic genetic program is progressively set up with the inhibition of antiapoptotic genes and the activation of proapoptotic ones. Here, we show that the histone deacetylase 3 (HDAC-3), which is a known co-represso...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.00869-06

    authors： Escaffit F,Vaute O,Chevillard-Briet M,Segui B,Takami Y,Nakayama T,Trouche D

    更新日期：2007-01-01 00:00:00

  • Stat1-vitamin D receptor interactions antagonize 1,25-dihydroxyvitamin D transcriptional activity and enhance stat1-mediated transcription.

    abstract：:The cytokine gamma interferon (IFN-gamma) and the calcitropic steroid hormone 1,25-dihydroxyvitamin D (1,25D) are activators of macrophage immune function. In sarcoidosis, tuberculosis, and several granulomatoses, IFN-gamma induces 1,25D synthesis by macrophages and inhibits 1,25D induction of 24-hydroxylase, a key en...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.22.8.2777-2787.2002

    authors： Vidal M,Ramana CV,Dusso AS

    更新日期：2002-04-01 00:00:00

  • Functional analysis of centrosomal kinase substrates in Drosophila melanogaster reveals a new function of the nuclear envelope component otefin in cell cycle progression.

    abstract：:Phosphorylation is one of the key mechanisms that regulate centrosome biogenesis, spindle assembly, and cell cycle progression. However, little is known about centrosome-specific phosphorylation sites and their functional relevance. Here, we identified phosphoproteins of intact Drosophila melanogaster centrosomes and ...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.00814-12

    authors： Habermann K,Mirgorodskaya E,Gobom J,Lehmann V,Müller H,Blümlein K,Deery MJ,Czogiel I,Erdmann C,Ralser M,von Kries JP,Lange BM

    更新日期：2012-09-01 00:00:00

  • The Drosophila polycomb group protein Psc contacts ph and Pc through specific conserved domains.

    abstract：:The Polycomb group proteins are transcriptional repressors that are thought to act through multimeric nuclear complexes. We show that ph and Psc coprecipitate with Pc from nuclear extracts. We have analyzed the domains required for the association of Psc with ph and Pc by using the yeast two-hybrid system and an in vi...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.18.5.2712

    authors： Kyba M,Brock HW

    更新日期：1998-05-01 00:00:00

  • A silencer element for the lipoprotein lipase gene promoter and cognate double- and single-stranded DNA-binding proteins.

    abstract：:Transfection experiments with constructs containing various 5'-deleted fragments of the human lipoprotein lipase (LPL) promoter and the chloramphenicol acetyltransferase reporter gene revealed an LPL silencer element (LSE) in the region of nucleotides -225 to -81 of the LPL gene that functioned in Chinese hamster ovar...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.15.1.517

    authors： Tanuma Y,Nakabayashi H,Esumi M,Endo H

    更新日期：1995-01-01 00:00:00

  • Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene.

    abstract：:Coagulation factor VIII is an essential cofactor required for normal hemostatic function. A deficiency in factor VIII results in the bleeding disorder hemophilia A. Despite the fact that the factor VIII gene was cloned a decade ago, the mechanisms which control its transcription remain unresolved. In our studies, we h...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.16.5.1936

    authors： McGlynn LK,Mueller CR,Begbie M,Notley CR,Lillicrap D

    更新日期：1996-05-01 00:00:00

  • Topoisomerase-specific drug sensitivity in relation to cell cycle progression.

    abstract：:The nuclear enzyme DNA topoisomerase II catalyzes the breakage and resealing of duplex DNA and plays an important role in several genetic processes. It also mediates the DNA cleavage activity and cytotoxicity of clinically important anticancer agents such as etoposide. We have examined the activity of topoisomerase II...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.7.9.3119

    authors： Chow KC,Ross WE

    更新日期：1987-09-01 00:00:00

  • Evidence that the functional beta-actin gene is single copy in most mice and is associated with 5' sequences capable of conferring serum- and cycloheximide-dependent regulation.

    abstract：:Hybridization to synthetic oligonucleotides representing conserved regions in the promoter and first intron of several vertebrate beta-actin genes was used to discriminate between what appears to be a single functional beta-actin gene and numerous pseudogenes in the mouse genome. Sequences derived from the 5' end of t...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.8.1.480

    authors： Elder PK,French CL,Subramaniam M,Schmidt LJ,Getz MJ

    更新日期：1988-01-01 00:00:00

  • Imprinted Nesp55 influences behavioral reactivity to novel environments.

    abstract：:Genomic imprinting results in parent-of-origin-dependent monoallelic expression of selected genes. Although their importance in development and physiology is recognized, few imprinted genes have been investigated for their effects on brain function. Gnas is a complex imprinted locus whose gene products are involved in...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.25.8.3019-3026.2005

    authors： Plagge A,Isles AR,Gordon E,Humby T,Dean W,Gritsch S,Fischer-Colbrie R,Wilkinson LS,Kelsey G

    更新日期：2005-04-01 00:00:00

  • A plant mitochondrial sequence transcribed in transgenic tobacco chloroplasts is not edited.

    abstract：:RNA editing occurs in two higher-plant organelles, chloroplasts and mitochondria. Because chloroplasts and mitochondria exhibit some similarity in editing site selection, we investigated whether mitochondrial RNA sequences could be edited in chloroplasts. We produced transgenic tobacco plants that contained chimeric g...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.15.3.1377

    authors： Sutton CA,Zoubenko OV,Hanson MR,Maliga P

    更新日期：1995-03-01 00:00:00

  • Coordinate regulation of the oxygen-dependent degradation domains of hypoxia-inducible factor 1 alpha.

    abstract：:Oxygen-dependent proteolysis is the primary means of regulating the hypoxia-inducible factor (HIF) family of transcription factors. The alpha-subunit of HIF factor 1 (HIF-1) contains two highly conserved oxygen-dependent degradation domains (402 ODD and 564 ODD), each of which includes a proline that is hydroxylated i...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.25.15.6415-6426.2005

    authors： Chan DA,Sutphin PD,Yen SE,Giaccia AJ

    更新日期：2005-08-01 00:00:00

  • Essential function of protein 4.1G in targeting of membrane protein palmitoylated 6 into Schmidt-Lanterman incisures in myelinated nerves.

    abstract：:Protein 4.1G is a membrane skeletal protein found in specific subcellular structures in myelinated Schwann cells and seminiferous tubules. Here, we show that in the mouse sciatic nerve, protein 4.1G colocalized at Schmidt-Lanterman incisures (SLI) and the paranodes with a member of the membrane-associated guanylate ki...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.05945-11

    authors： Terada N,Saitoh Y,Ohno N,Komada M,Saitoh S,Peles E,Ohno S

    更新日期：2012-01-01 00:00:00

  • Akt-directed glucose metabolism can prevent Bax conformation change and promote growth factor-independent survival.

    abstract：:The serine/threonine kinase Akt is a component of many receptor signal transduction pathways and can prevent cell death following growth factor withdrawal. Here, we show that Akt inhibition of cell death is not dependent on new protein translation. Instead, Akt inhibition of cell death requires glucose hydrolysis thro...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.23.20.7315-7328.2003

    authors： Rathmell JC,Fox CJ,Plas DR,Hammerman PS,Cinalli RM,Thompson CB

    更新日期：2003-10-01 00:00:00

  • Transcriptional pausing caused by NELF plays a dual role in regulating immediate-early expression of the junB gene.

    abstract：:Human 5,6-dichloro-1-beta-D-ribofuranosylbenzimidazole sensitivity-inducing factor (DSIF) and negative elongation factor (NELF) negatively regulate transcription elongation by RNA polymerase II (RNAPII) in vitro. However, the physiological roles of this negative regulation are not well understood. Here, by using a num...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.02366-05

    authors： Aida M,Chen Y,Nakajima K,Yamaguchi Y,Wada T,Handa H

    更新日期：2006-08-01 00:00:00

  • Effects of alterations in cellular iron on biosynthesis of the transferrin receptor in K562 cells.

    abstract：:Treatment of K562 cells, a human erythroleukemia cell line, with desferrioxamine raised the levels of the receptor for transferrin (Tf) two- to threefold over that of the control cells. The levels of receptor were reduced by at least 50 and 35% of that of the control in cells treated with diferric Tf and ferric ammoni...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.5.4.595

    authors： Rao KK,Shapiro D,Mattia E,Bridges K,Klausner R

    更新日期：1985-04-01 00:00:00

  • Tyrosine phosphorylation of the Rho guanine nucleotide exchange factor Trio regulates netrin-1/DCC-mediated cortical axon outgrowth.

    abstract：:The chemotropic guidance cue netrin-1 mediates attraction of migrating axons during central nervous system development through the receptor Deleted in Colorectal Cancer (DCC). Downstream of netrin-1, activated Rho GTPases Rac1 and Cdc42 induce cytoskeletal rearrangements within the growth cone. The Rho guanine nucleot...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.01264-12

    authors： DeGeer J,Boudeau J,Schmidt S,Bedford F,Lamarche-Vane N,Debant A

    更新日期：2013-02-01 00:00:00

  • Ligand-dependent repression of the erythroid transcription factor GATA-1 by the estrogen receptor.

    abstract：:High-dose estrogen administration induces anemia in mammals. In chickens, estrogens stimulate outgrowth of bone marrow-derived erythroid progenitor cells and delay their maturation. This delay is associated with down-regulation of many erythroid cell-specific genes, including alpha- and beta-globin, band 3, band 4.1, ...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.15.6.3147

    authors： Blobel GA,Sieff CA,Orkin SH

    更新日期：1995-06-01 00:00:00

  • Bradykinin B(2) receptor-mediated mitogen-activated protein kinase activation in COS-7 cells requires dual signaling via both protein kinase C pathway and epidermal growth factor receptor transactivation.

    abstract：:The signaling routes linking G-protein-coupled receptors to mitogen-activated protein kinase (MAPK) may involve tyrosine kinases, phosphoinositide 3-kinase gamma (PI3Kgamma), and protein kinase C (PKC). To characterize the mitogenic pathway of bradykinin (BK), COS-7 cells were transiently cotransfected with the human ...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.19.8.5289

    authors： Adomeit A,Graness A,Gross S,Seedorf K,Wetzker R,Liebmann C

    更新日期：1999-08-01 00:00:00

  • Deficiency of PTEN in Jurkat T cells causes constitutive localization of Itk to the plasma membrane and hyperresponsiveness to CD3 stimulation.

    abstract：:Pleckstrin homology (PH) domain binding to D3-phosphorylated phosphatidylinositides (PI) provides a reversible means of recruiting proteins to the plasma membrane, with the resultant change in subcellular localization playing a key role in the activation of multiple intracellular signaling pathways. Previously we foun...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.20.18.6945-6957.2000

    authors： Shan X,Czar MJ,Bunnell SC,Liu P,Liu Y,Schwartzberg PL,Wange RL

    更新日期：2000-09-01 00:00:00

  • Intramolecular disulfide bonds of the prolactin receptor short form are required for its inhibitory action on the function of the long form of the receptor.

    abstract：:The short form (S1b) of the prolactin receptor (PRLR) silences prolactin-induced activation of gene transcription by the PRLR long form (LF). The functional and structural contributions of two intramolecular disulfide (S-S) bonds within the extracellular subdomain 1 (D1) of S1b to its inhibitory function on the LF wer...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/MCB.01716-08

    authors： Xie YL,Hassan SA,Qazi AM,Tsai-Morris CH,Dufau ML

    更新日期：2009-05-01 00:00:00

  • Phosphatidylinositol kinase activity in virus-transformed and nontransformed cells.

    abstract：:We assayed phosphatidylinositol (PI) kinase (EC 2.7.1.67) activity in detergent extracts of nontransformed or virus-transformed cells. Nontransformed chicken embryo fibroblasts (CEF) contain PI kinase activity with an apparent specific activity of 20 pmol/min per mg of protein. This activity sedimented as a single pea...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.5.9.2399

    authors： Sugano S,Hanafusa H

    更新日期：1985-09-01 00:00:00

  • The yeast MOT2 gene encodes a putative zinc finger protein that serves as a global negative regulator affecting expression of several categories of genes, including mating-pheromone-responsive genes.

    abstract：:The STE4 gene encodes the beta subunit of a heterotrimeric G protein that is an essential component of the pheromone signal transduction pathway. To identify downstream component(s) of Ste4, we sought pseudo-revertants that restored mating competence to ste4 mutants. The suppressor mot2 was isolated as a recessive mut...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.14.5.3150

    authors： Irie K,Yamaguchi K,Kawase K,Matsumoto K

    更新日期：1994-05-01 00:00:00

  • Sequence-specific activation of transcription by adenovirus EIa products is observed in HeLa cells but not in 293 cells.

    abstract：:The adenovirus EIa gene products activate transcription from the viral EIII and EIIaE promoters. We studied the mechanism of this stimulation by constructing a series of chimeric promoter recombinants containing the upstream regions of the EIII and EIIaE promoters linked to the TATA box-start-site regions of the viral...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.6.1.201

    authors： Leff T,Chambon P

    更新日期：1986-01-01 00:00:00

  • Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions.

    abstract：:To examine the sequence complexity and differential expression of human alpha-tubulin genes, we constructed cDNA libraries from two unrelated tissue types (epidermis and fetal brain). The complete sequence of a positively hybridizing alpha-tubulin clone from each library is described. Each is shown to represent an abu...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.3.10.1738

    authors： Cowan NJ,Dobner PR,Fuchs EV,Cleveland DW

    更新日期：1983-10-01 00:00:00

  • Signaling in the yeast pheromone response pathway: specific and high-affinity interaction of the mitogen-activated protein (MAP) kinases Kss1 and Fus3 with the upstream MAP kinase kinase Ste7.

    abstract：:Kss1 and Fus3 are mitogen-activated protein kinases (MAPKs or ERKs), and Ste7 is their activating MAPK/ERK kinase (MEK), in the pheromone response pathway of Saccharomyces cerevisiae. To investigate the potential role of specific interactions between these enzymes during signaling, their ability to associate with each...

    journal_title：Molecular and cellular biology

    pub_type： 杂志文章

    doi：10.1128/mcb.16.7.3637

    authors： Bardwell L,Cook JG,Chang EC,Cairns BR,Thorner J

    更新日期：1996-07-01 00:00:00