The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

EMBO Molecular Medicine

Volumn 6, Issue 7, 2014, Pages 984-992

  Pepermans, Elise ^a,b,c   Michel, Vincent ^a,b,c   Goodyear, Richard ^d   Bonnet, Crystel ^b,c,e   Abdi, Samia ^f   Dupont, Typhaine ^a,b,c   Gherbi, Souad ^g   Holder, Muriel ^h   Makrelouf, Mohamed ⁱ   Hardelin, Jean Pierre ^a,b,c   Marlin, Sandrine ^g   Zenati, Akila ⁱ   Richardson, Guy ^d   Avan, Paul ^b,j,k   Bahloul, Amel ^a,b,c   Petit, Christine ^a,b,c,e,l  

^a INSTITUT PASTEUR   (France)

^b INSERM   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

^e INSTITUT DE LA VISION   (France)

^f CHU Mustapha   (Algeria)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ Benyoucef Benkhedda   (Algeria)

^j UNIVERSITÉ CLERMONT AUVERGNE   (France)

^k CENTRE JEAN PERRIN   (France)

^l Grp de Biol de la Cellule N   (France)

more..

Author keywords

Auditory mechano electrical transduction; Deafness; Protocadherin 15; Stereocilia; Tip link

Indexed keywords

CD2 ISOFORM; ISOPROTEIN; MEMBRANE PROTEIN; PROTOCADHERIN 15; UNCLASSIFIED DRUG; CADHERIN; PCDH15 PROTEIN, HUMAN; PCDH15 PROTEIN, MOUSE; PROTEIN PRECURSOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANTIBODY LABELING; ARTICLE; CELL MATURATION; CELL STRUCTURE; CHILDHOOD DISEASE; CONTROLLED STUDY; CYTOPLASM; ELECTROPHYSIOLOGICAL PROCEDURES; FRAMESHIFT MUTATION; HAIR CELL; HAIR GROWTH; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MOUSE; NONHUMAN; PERINATAL PERIOD; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; ANIMAL; CHILD; CYTOLOGY; FEMALE; GENETICS; KNOCKOUT MOUSE; MALE; MECHANOTRANSDUCTION; METABOLISM; MUTATION; ULTRASTRUCTURE;

ANIMALS; CADHERINS; CHILD; DEAFNESS; FEMALE; FRAMESHIFT MUTATION; HAIR CELLS, AUDITORY; HUMANS; MALE; MECHANOTRANSDUCTION, CELLULAR; MICE; MICE, KNOCKOUT; MUTATION; PROTEIN ISOFORMS; PROTEIN PRECURSORS;

EID: 84903632864     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.15252/emmm.201403976     Document Type: Article

References (21)

1. Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S et al (2006) The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci 26: 7022-7034
2. Avan P, Buki B, Petit C (2013) Auditory distortions: origins and functions. Physiol Rev 93: 1563-1619
3. Beurg M, Fettiplace R, Nam JH, Ricci AJ (2009) Localization of inner hair cell mechanotransducer channels using high-speed calcium imaging. Nat Neurosci 12: 553-558
4. Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Delepine M, Feldmann D et al (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 6: 21
5. Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear RJ, Pepermans E, Michalski N, Perfettini I, Alegria-Prevot O, Chardenoux S et al (2011) Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A 108: 5825-5830
6. Copley CO, Duncan JS, Liu C, Cheng H, Deans MR (2013) Postnatal refinement of auditory hair cell planar polarity deficits occurs in the absence of Vangl2. J Neurosci 33: 14001-14016
7. Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM et al (2003) Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol 13: 1129-1133
8. Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C (2012) Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet 21: 3835-3844
9. Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C et al (2009) Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 27: 182-189
10. Goodyear RJ, Forge A, Legan PK, Richardson GP (2010) Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells. J Comp Neurol 518: 4288-4297
11. Hardisty-Hughes RE, Parker A, Brown SD (2010) A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment. Nat Protoc 5: 177-190
12. Howard J, Hudspeth AJ (1988) Compliance of the hair bundle associated with gating of mechanoelectrical transduction channels in the bullfrog's saccular hair cell. Neuron 1: 189-199
13. Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J et al (2011) Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet 20: 466-481
14. Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Muller U, Kachar B (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature 449: 87-91
15. Lallemand Y, Luria V, Haffner-Krausz R, Lonai P (1998) Maternally expressed PGK-Cre transgene as a tool for early and uniform activation of the Cre site-specific recombinase. Transgenic Res 7: 105-112
16. Le Calvez S, Avan P, Gilain L, Romand R (1998) CD1 hearing-impaired mice. I: distortion product otoacoustic emission levels, cochlear function and morphology. Hear Res 120: 37-50
17. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1: 453-465
18. Patuzzi RB, Yates GK, Johnstone BM (1989) The origin of the low-frequency microphonic in the first cochlear turn of guinea-pig. Hear Res 39: 177-188
19. Spoendlin H, Baumgartner H (1977) Electrocochleography and cochlear pathology. Acta Otolaryngol 83: 130-135
20. Tilney LG, Tilney MS, Cotanche DA (1988) Actin filaments, stereocilia, and hair cells of the bird cochlea. V. How the staircase pattern of stereociliary lengths is generated. J Cell Biol 106: 355-365
21. Webb SW, Grillet N, Andrade LR, Xiong W, Swarthout L, Della Santina CC, Kachar B, Muller U (2011) Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development 138: 1607-1617