In this article we present 1H and 13C chemical shift assignments, secondary structural propensity data and normalized temperature coefficient data for N-terminal peptides of Connexin 26 (Cx26), Cx26G12R and Cx32G12R mutants seen in syndromic deafness and Charcot Marie Tooth Disease respectively, published in "Structural Studies of N-Terminal Mutants of Connexin 26 and Connexin 32 Using 1H NMR S...

BACKGROUND Indirect evidence suggests that connexin hemichannels are permeable to Ca(2+), but direct demonstration is lacking. RESULTS Calcium moves into liposomes containing purified Cx26 in response to a concentration gradient. CONCLUSION Cx26 hemichannels are permeable to Ca(2+). SIGNIFICANCE Cx26 hemichannels may play a role in Ca(2+) influx into cells under conditions that lead to he...

Gap-junction channels (GJCs) communicate the cytoplasm of adjacent cells and are formed by head-to-head association of two hemichannels (HCs), one from each of the neighbouring cells. GJCs mediate electrical and chemical communication between cells, whereas undocked HCs participate in paracrine signalling because of their permeability to molecules such as ATP. Sustained opening of HCs under pat...

In order to study the specific function of connexin-26 (Cx26, also known as gap junction beta-2 protein; Gjb2), we generated knockin mice that expressed either a floxed lacZ reporter or, after Cre-mediated deletion, connexin-32 (Cx32)-coding DNA, both driven by the endogenous Cx26 promoter. Heterozygous Cx26knock-inCx32 (Cx26KICx32) embryos developed normally until embryonic day 14.5 but died b...

Contrary to the previously purported role of gap junction (GJ) associated-protein connexin 26 (Cx26) as a tumor suppressor, increased expression of Cx26 has recently been demonstrated in several human malignancies. Surprisingly, this high expression is reportedly related to poor prognosis in squamous cell lung carcinoma and breast cancer. In this study, we examined levels of Cx26 in various hum...

EDITOR—Existing published data cannot conclusively determine if the M34T allele of connexin-26 (GJB2) is a recessive allele causing hearing loss. The recent article by Houseman et al (J Med Genet 2001;38:20-5) “Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/ M34T segregating with mild-moderate nonsyndromic sensorineural hearing loss,” does not resolve this que...

It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...

Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe hearing loss in two Qatari families. We have analyzed the effect of this mutation using a combinat...

This study was conducted to determine the level of expression and cellular localization of connexin 26 (Cx26) and the expression of p53 in colorectal adenocarcinoma as well as their relationship to clinicopathological features. Immunohistochemical staining was performed in 130 colorectal adenocarcinoma cases. A correlation between the expression levels of the two proteins and an analysis of the...