Developmental expression patterns of connexin26 and -30 in the rat cochlea

Lautermann, J.; Frank, Hans-Georg; Jahnke, K.; Traub, Otto; Winterhager, Elke

doi:10.1002/(sici)1520-6408(1999)25:4<306::aid-dvg4>3.0.co;2-r

Cited by 87 publications

(70 citation statements)

References 27 publications

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“…18,19 Their co-expression is also detectable in human embryo cochlea after the 22nd week. 19,20 The co-expression of these two connexins also favoured the hypothesis that their connexons may form both homo-and/or hetero-channels. 21 …”

Section: Introductionmentioning

confidence: 96%

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

et al. 2002

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Congenital profound deafness has a known genetic origin in more than 50% of all cases. The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive inheritance. Mutations in the GJB2 gene (connexin 26) account for more than 50% of the recessive non syndromic deafness (DFNB1) among 30 loci. Other connexin genes have been more rarely involved and attention was given here to the GJB6 gene (connexin 30). We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL. More strikingly, association of this deletion in trans of the GJB2 gene 35delG or E47X mutations is also associated with NSHL.

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Section: Introductionmentioning

confidence: 96%

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

et al. 2002

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“…Cx26 encodes a gap junction protein known to form intercellular channels by the juxtaposition of connexon subunits between two adjacent cells. In the inner ear, these channels are expressed in the supporting cells, spiral limbus, stria vascularis and spiral ligament 11 and permit transport of fluids and small molecules of less than 1 kDa. 12 It has been proposed that potassium ions needed for the initiation of action potentials in the hair cells and inositol 1,4,5-trisphosphate, a Ca 2 þ -mobilizing messenger are transported through certain gap junction channels of the supporting cells and stria vascularis.…”

Section: Introductionmentioning

confidence: 99%

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

et al. 2008

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In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (À23G4T, I33T, 377_383dupTCCGCAT, W172R) and the remaining 14 (ivs1 þ 1G4A, M1V, 35delG, W24X, I35S, V37I, R75W, W77X, 312del14, E120del, Q124X, Y136X, R143W, R184P) being mutations previously described. To gain insight into functional consequences of these mutations, cellular localization of the mutant proteins and their ability to permit lucifer yellow transfer between cells was studied in seven of them (W24X, I33T, I35S, R75W, E120del, W172R and R184P). I35S and R184P showed impaired trafficking of the protein to the plasma membrane. I33T, R75W, E120del and W172R showed predominantly membrane localization but did not form functional gap junction channels. Surprisingly, W24X, a protein-truncating mutation, apparently permits formation of a full-length protein, perhaps due to a stop codon read-through mechanism. These results provide further evidence that Cx26 mutations affect gap junction activity by mis-regulation at multiple levels.

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“…Gap junction channels with particular connexin arrangements have specific properties, which are most likely tailored to their physiological roles. There is significant overlap of connexin 26 (Cx26) and Cx30 immunofluorescence in cochlear tissue (Lautermann et al, 1998(Lautermann et al, , 1999Ahmad et al, 2003;Forge et al, 2003b;Sun et al, 2005). Immunogold labeling has suggested that Cx26 and Cx30 are equally distributed within individual gap junction plaques (Forge et al, 2003b).…”

Section: Introductionmentioning

confidence: 99%

Compartmentalized and Signal-Selective Gap Junctional Coupling in the Hearing Cochlea

Jagger¹,

Forge²

2006

J. Neurosci.

102

114

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Developmental expression patterns of connexin26 and -30 in the rat cochlea

Cited by 87 publications

References 27 publications

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

Compartmentalized and Signal-Selective Gap Junctional Coupling in the Hearing Cochlea

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