Genetics and Physiology of Hearing

Leader

Research center

25 rue du Docteur Roux
75015 Paris
Christian Bréchot

Institution

Inserm
Collège de France
Université Pierre et Marie Curie

Laboratory

Phone: 01 45 68 88 90
UMRS 1120
Labex Lifesenses

Keywords

human genetics
electrophysiology
Biophysics
Biochemistry
Hearing molecular physiology
Sensorineural deafness
Retinal defects (Usher syndrome)
Cell biology
Available to host a PhD student

Publications

Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. J Cell Biol. 2016 Jan 18;212(2):231-44. doi: 10.1083/jcb.201509017. Epub 2016 Jan 11.

Avan P, Büki B, Petit C (2013) Auditory distortions: origins and functions. Physiol Rev 93, 1563?1619.

Bonnet C, ? Petit C, Marlin S (2013) Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment. Gene 527, 537-40.

Kamiya K, Michel V, Giraudet F, Riederer B, Foucher I, Papal S, Perfettini I, Le Gal S, Verpy E, Xia W, Seidler U, Georgescu MM, Avan P, El-Amraoui A, Petit C. An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells. Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9307-12. doi: 10.1073/pnas.1405322111. Epub 2014 Jun 11.

Boulay A-C, ? Petit C, Avan P, Cohen-Salmon M (2013) Hearing is normal without connexin30. J Neurosci 33, 430-34.

El-Amraoui A, Petit C (2013) Cadherin defects in inherited human diseases. Progr Mol Biol Transl Sci, Conn PM (ed.), Elsevier 116, 361-84.

Greenspan R, Petit C (2013) Neurogenetics. Curr Opin Neurobiol. 23, 1-2.

Lepelletier L, ? Petit C (2013) Auditory hair cell centrioles undergo confined brownian motion throughout the developmental migration of the kinocilium. Biophys J 105, 48-58.

Fields of research

Neurogenetics / neurodevelopment

Research Theme

Our research projects have two tightly linked goals: (i) to decipher the cellular and molecular mechanisms that underlie the development of the auditory system, the way it processes acoustic signals (mechanotransduction (MET), and the synaptic properties of the auditory sensory cells and their afferents; and (ii) to identify the genes and pathogenic pathways causing deafness in humans in early- and late-onset forms, as well as forms accompanied by retinal defects (Usher syndrome). We also search for therapeutic tools based on these findings.

C. Petit’s laboratory have identified genes causing some twenty different monogenic forms of deafness. The protein products of these genes are key components of the auditory MET machinery, the sensory cell synapse and the auditory nerves. Investigating the molecular physiology and pathophysiology of the peripheral auditory system through multidisciplinary analyses (morphological, biochemical, in vivo and ex vivo electrophysiology and behavior analyses) of mouse models for human deafness is a major focus of the lab. These models also allow us to detect new physiological properties of the hearing system.