Christine Petit - Selected publications#

• Iman Sahly, Eric Dufour, Cataldo Schietroma, Vincent Michel, Amel Bahloul, Isabelle Perfettini, Elise Pepermans, Amrit Estivalet, Diane Carette, Asadollah Aghaie, Inga Ebermann, Andrea Lelli, Maria Iribarne, Jean-Pierre Hardelin, Dominique Weil, José-Alain Sahel, Aziz El-Amraoui, Christine Petit. Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice, Journal of Cell Biology, october, 15, 2012.

• Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44.

• Safieddine S, El-Amraoui A, Petit C. The auditory hair cell ribbon synapse: from assembly to function. Annu Rev Neurosci. 2012;35:509-28.

• Richardson GP, Boutet de Monvel J, Petit C. How the genetics of deafness illuminates auditory physiology. Annu Rev Physiol. 2011 Mar 17;73:311-34.

• Verpy E, Leibovici M, Michalski N, Goodyear RJ, Houdon C, Weil D, Richardson GP, Petit C. Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. J Comp Neurol. 2011 Feb 1;519(2):194-210.

• Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis. 2011 May 11;6:21.

• Reisinger E, Bresee C, Neef J, Nair R, Reuter K, Bulankina A, Nouvian R, Koch M, Bückers J, Kastrup L, Roux I, Petit C, Hell SW, Brose N, Rhee JS, Kügler S, Brigande JV, Moser T. Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis. J Neurosci. 2011 Mar 30;31(13):4886-95.

• Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear RJ, Pepermans E, Michalski N, Perfettini I, Alegria-Prévot O, Chardenoux S, Do Cruzeiro M, Hardelin JP, Richardson GP, Avan P, Weil D, Petit C. 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. 2011 Apr 5;108(14):5825-30.

• Bahloul A, Michel V, Hardelin JP, Nouaille S, Hoos S, Houdusse A, England P, Petit C. Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet. 2010 Sep 15;19(18):3557-65.

• Beurg M, Michalski N, Safieddine S, Bouleau Y, Schneggenburger R, Chapman ER, Petit C, Dulon D. Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells. J Neurosci. 2010 Oct 6;30(40):13281-90.

• Boutet de Monvel J, Petit C. Wrapping up stereocilia rootlets. Cell. 2010 May 28;141(5):748-50.

• Del Castillo FJ, Cohen-Salmon M, Charollais A, Caille D, Lampe PD, Chavrier P, Meda P, Petit C. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. Hum Mol Genet. 2010 Jan 15;19(2):262-75.

• El-Amraoui A, Petit C. Cadherins as targets for genetic diseases. Cold Spring Harb Perspect Biol. 2010 Jan;2(1):a003095.

• Etournay R, Lepelletier L, Boutet de Monvel J, Michel V, Cayet N, Leibovici M, Weil D, Foucher I, Hardelin JP, Petit C. Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape. Development. 2010 Apr;137(8):1373-83.

• Wang DY, Wang YC, Weil D, Zhao YL, Rao SQ, Zong L, Ji YB, Liu Q, Li JQ, Yang HM, Shen Y, Benedict- Alderfer C, Zheng QY, Petit C, Wang QJ. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. BMC Med Genet. 2010 May 26;11:79.

• El-Amraoui A, Petit C. Stem cell therapy in the inner ear: recent achievements and prospects. Med Sci (Paris). 2010 Nov;26(11):981-5.

• Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42.

• Ashmore J, Avan P, Brownell WE, Dallos P, Dierkes K, Fettiplace R, Grosh K, Hackney CM, Hudspeth AJ, Jülicher F, Lindner B, Martin P, Meaud J, Petit C, Sacchi JR, Canlon B. The remarkable cochlear amplifier. Hear Res. 2010 Jul;266(1-2):1-17.

• Dulon D, Safieddine S, Jones SM, Petit C. Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses. J Neurosci. 2009 Aug 26;29(34):10474-87.

• Bahloul A, Simmler M-C, Michel V, Leibovici M, Perfettini I, Roux I, Weil D, Nouaille S, Zuo J, Zadro C, Licastro D, Gasparini P, Avan P, Hardelin J-P, Petit C. Vezatin, an integral membrane protein of adherens junctions, is required for the sound-resilience of cochlear hair cells. EMBO Mol Med. 2009 May;1(2):125-38.

• Belguith H, Masmoudi S, Medlej-Hashim M, Chouery E, Weil D, Ayadi H, Petit C, Megarbane A. Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1. Eur J Hum Genet. 2009 Jan;17(1):122-4.

• Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A, Demerens-de Chappedelaine C, Morillon E, Valensi F, Simon-Stoos KL, Mullikin JC, Noroski LM, Besse C, Wulffraat NM, Ferster A, Abecasis MM, Calvo F, Petit C, Candotti F, Abel L, Fischer A, Cavazzana-Calvo M. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009 Jan;41(1):106-11.

• Petit C, Richardson GP. Linking genes underlying deafness to hair-bundle development and function. Nat Neurosci. 2009 Jun;12(6):703-10.

• Roux I, Hosie S, Johnson SL, Bahloul A, Cayet N, Nouaille S, Kros CJ, Petit C, Safieddine S. Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses. Hum Mol Genet. 2009 Dec 1;18(23):4615-28.

• Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Hardelin J-P, Richardson GP, Avan P & Petit C. Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. Nature. 2008 Nov 13;456(7219):255-8.

• Lefèvre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, Hardelin J-P & Petit C. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008 Apr;135(8):1427-37.

• Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin J-P, Sato M & Petit C. Molecular characterization of the ankle link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007 Jun 13;27(24):6478-88.