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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness

Contributors

Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele

Published in

Frontiers in bioscience, vol. 13, p. 1557-1567

Publication date

2008

Abstract

Recently, we and others have shown that mutations in TMPRSS3 were responsible for autosomal recessive non-syndromic hearing loss. TMPRSS3 is a member of the Type II Transmembrane Serine Protease (TTSP) family and encodes for a protease that also contains LDLRA (low-density lipoprotein receptor class A) and SRCR (scavenger receptor cysteine rich) domains. Fourteen pathogenic mutations, which occur not only in the catalytic domain but also in the LDLRA and SRCR domains, have been identified to date that cause the DFNB8/10 forms of deafness. In vitro experiments demonstrated that TMPRSS3 mutants were proteolytically inactive indicating that TMPRSS3 protease activity is critical for normal auditory function. However, how missense mutations in the LDLRA and SRCR domains affect the proteolytic activity of TMPRSS3 remains to be elucidated. Although the role of TMPRSS3 in the auditory system is currently not completely understood, it has been shown to regulate the activity of the ENaC sodium channel in vitro and could therefore participate in the regulation of sodium concentration in the cochlea. TMPRSS3 mutations are not a common cause of hereditary deafness, the elucidation of its function is nevertheless important for better understanding of hearing, and provide biological targets for therapeutic interventions.

Keywords

  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21/genetics
  • DNA Mutational Analysis
  • Family Health
  • Genes, Recessive
  • Hearing Loss, Sensorineural/genetics/pathology
  • Humans
  • Membrane Proteins/genetics/metabolism/physiology
  • Mutation
  • Neoplasm Proteins/genetics/metabolism/physiology
  • Serine Endopeptidases/genetics/metabolism/physiology

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

GUIPPONI, Michel, ANTONARAKIS, Stylianos, SCOTT, Hamish Steele. TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. In: Frontiers in bioscience, 2008, vol. 13, p. 1557–1567. doi: 10.2741/2780

Main files (1)

Article (Accepted version)

Identifiers

Additional URL for this publication

http://www.bioscience.org/2008/v13/af/2780/list.htm

Journal ISSN

1093-4715
950views
883downloads

Technical informations

Creation

01/04/2009 11:57:00

First validation

01/04/2009 11:57:00

Update

14/03/2023 15:03:53

Status update

14/03/2023 15:03:53

Last indexation

29/10/2024 11:25:00
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