PURPOSE To investigate intercellular communication in the corneal epithelium, changes in the concentration of intracellular Ca(2+) ([Ca(2+)](i) ) induced by adenosine-5'-triphosphate (ATP) were analyzed. METHODS Rabbit corneal epithelia were loaded with Ca(2+) indicators and then stimulated by ATP (10 microM). [Ca(2+)](i) changes were monitored by means of conventional fluorescence and real-t...

PURPOSE To investigate the effects of reducing connexin (Cx) diversity in the lens when the amount of connexin protein is nearly constant. METHODS Lenses in which the Cx50 coding region was replaced by that of Cx46 (knockin [KI]), were compared with wild type (WT) and Cx50-knockout (KO) lenses. Gap junctional conductance (G(j)), and membrane conductance were evaluated by using frequency domai...

Congenital cataracts are a significant cause of visual impairment in childhood. They have a high incidence and are a significant cause of vision loss world wide causing approximately one tenth of childhood blindness [1]. Roughly 50% of congenital cataracts are hereditary and family studies have revealed that approximately 30% of children with bilateral isolated congenital cataract had a genetic...

Schizophrenia is a common mental disorder with high heritability and strong genetic heterogeneity. Common disease-common variants hypothesis predicts that schizophrenia is attributable in part to common genetic variants. However, recent studies have clearly demonstrated that copy number variations (CNVs) also play pivotal roles in schizophrenia susceptibility and explain a proportion of missing...

PURPOSE To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). METHODS One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genetic linkage analysis was performed on the known genetic loci for ADC...

PURPOSE To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract. METHODS Detailed family history and clinical data were recorded. Linkage analysis using fluorescently labeled microsatellite markers for the already known candidate gene loci was performed in combination with mutation screening by bidi...

PURPOSE The Upjohn Pharmaceuticals Limited (UPL) rat is a unique model for cataracts, which are inherited as an autosomal semidominant trait and expressed as early-onset (E-type) cataracts in homozygotes and as late-onset (L-type) cataracts in heterozygotes. In this study, a gene and its modifier, which are responsible for formation of cataract, were mapped. METHODS Fifty-five BN x (BN x UPL)...

PURPOSE To characterize the properties of connexin 46 hemichannels in differentiating fiber cells isolated from mouse lenses. METHODS Differentiating fiber cells were isolated from mouse lenses using collagenase. Cellular localization of connexin 50 (Cx50) and connexin 46 (Cx46) was assessed by immunofluorescence. Membrane currents were recorded using whole cell patch clamping. Dye uptake was...

The X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32), which is expressed in Schwann cells. We have compared the functional properties of 11 Cx32 mutations with those of the wild-type protein by testing their ability to form intercellular channels in the paired oocyte expression system. Although seven mutations were functiona...

Mutations in connexin 46 are associated with congenital cataracts. The purpose of this project was to characterize cellular and functional properties of two congenital cataract-associated mutations located in the NH2 terminus of connexin 46: Cx46D3Y and Cx46L11S, which we found localized to gap junctional plaques like wild-type Cx46 in transfected HeLa cells. Dual two-microelectrode-voltage-cla...