scholarly journals A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes

2010 ◽  
Vol 6 (4) ◽  
pp. 213-223 ◽  
Author(s):  
Sameh Wasseff ◽  
Charles K. Abrams ◽  
Steven S. Scherer
Keyword(s):  
Gap Junction ◽  
Lucifer Yellow ◽  
Brain Slices ◽  
Gene Encoding ◽  
Transfected Cells ◽  
Dominant Phenotype ◽  
Sulforhodamine B ◽  
Junction Protein ◽  
The Central Nervous System ◽  
Gap Junction Protein

Dominant mutations in GJA1, the gene encoding the gap junction protein connexin43 (Cx43), cause oculodentodigital dysplasia (ODDD), a syndrome affecting multiple tissues, including the central nervous system (CNS). We investigated the effects of the G60S mutant, which causes a similar, dominant phenotype in mice (Gja1Jrt/+). Astrocytes in acute brain slices from Gja1Jrt/+ mice transfer sulforhodamine-B comparably to that in their wild-type (WT) littermates. Further, astrocytes and cardiomyocytes cultured from Gja1Jrt/+ mice showed a comparable transfer of lucifer yellow to those from WT mice. In transfected cells, the G60S mutant formed gap junction (GJ) plaques but not functional channels. In co-transfected cells, the G60S mutant co-immunoprecipitated with WT Cx43, but did not diminish GJ coupling as measured by dual patch clamp. Thus, whereas G60S has dominant effects, it did not appreciably reduce GJ coupling.

Identification of a mutation in GJB6 gene, encoding a gap junction protein Cx30, in a family with Clouston syndrome

2013 ◽  
Vol 69 (2) ◽  
pp. e55
Author(s):  
Atsushi Fujimoto ◽  
Mazen Kurban ◽  
Motonobu Nakamura ◽  
Muhammad Farooq ◽  
Hiroki Fujikawa ◽  
...  
Keyword(s):  
Gap Junction ◽  
Gene Encoding ◽  
Junction Protein ◽  
Gap Junction Protein

Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

10.1038/3845 ◽  
1998 ◽  
Vol 20 (4) ◽  
pp. 370-373 ◽  
Author(s):  
Jia-hui Xia. ◽  
Chun-yu Liu ◽  
Bei-sha Tang ◽  
Qian Pan ◽  
Lei Huang ◽  
...  
Keyword(s):  
Gap Junction ◽  
Hearing Impairment ◽  
Autosomal Dominant ◽  
Gene Encoding ◽  
Junction Protein ◽  
Gap Junction Protein

scholarly journals Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

2021 ◽  
Vol 11 ◽  
Author(s):  
Irene Sargiannidou ◽  
Violetta Christophidou-Anastasiadou ◽  
Andreas Hadjisavvas ◽  
George A. Tanteles ◽  
Kleopas A. Kleopa
Keyword(s):  
Gap Junction ◽  
Protein A ◽  
Cellular Mechanisms ◽  
Gene Encoding ◽  
Pathogenic Variants ◽  
Junction Protein ◽  
Functional Consequences ◽  
Gap Junction Protein ◽  
Oculodentodigital Dysplasia Syndrome

Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic features of the syndrome. The functional consequences of this variant were also studied in an in vitro system. Cells expressed significantly less number of gap junction plaques with a great number of them retained intracellularly.

scholarly journals Gap junction proteins and cell-cell communication in the three functional zones of the adrenal gland

2002 ◽  
Vol 173 (1) ◽  
pp. 13-21 ◽  
Author(s):  
KT Davis ◽  
N Prentice ◽  
VL Gay ◽  
SA Murray
Keyword(s):  
Adrenal Gland ◽  
Gap Junction ◽  
Adrenal Cortex ◽  
Adrenal Glands ◽  
Lucifer Yellow ◽  
Cx43 Expression ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Gap Junction Proteins ◽  
Junction Proteins

Mouse and monkey adrenal glands were used to study the relationships between gap junction protein expression, intercellular communication and adrenal zonation. Dye communication patterns were determined by incubating freshly excised and hemisected adrenal glands in Lucifer yellow, a gap junction permeable fluorescent dye. Immunohistochemical techniques were used to localize adrenal gap junction proteins. The combination of these two techniques permitted the correlation of gap junction proteins with dye transfer and hormone responses in specialized regions of the adrenal cortex. Lucifer yellow dye communication was most pronounced in the inner glucocorticoid/androgen-producing regions (zona fasciculata/zona reticularis), but was virtually absent in the outer mainly mineralocorticoid-producing region (zona glomerulosa). This pattern of dye communication was coincident with immunohistochemical localization of the gap junction protein, alpha(1)Cx43. The variations in communication and alpha(1)Cx43 expression within the adrenal cortex are thought to be relevant to normal physiological regulation of the adrenal gland.

scholarly journals Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

2004 ◽  
Vol 75 (2) ◽  
pp. 251-260 ◽  
Author(s):  
Birgit Uhlenberg ◽  
Markus Schuelke ◽  
Franz Rüschendorf ◽  
Nico Ruf ◽  
Angela M. Kaindl ◽  
...  
Keyword(s):  
Gap Junction ◽  
Gene Encoding ◽  
Junction Protein ◽  
Gap Junction Protein

scholarly journals Sequence and developmental expression of mRNA coding for a gap junction protein in Xenopus.

1988 ◽  
Vol 107 (3) ◽  
pp. 1065-1073 ◽  
Author(s):  
R L Gimlich ◽  
N M Kumar ◽  
N B Gilula
Keyword(s):  
Gap Junction ◽  
Sequence Similarity ◽  
Developmental Expression ◽  
In Vitro Translation ◽  
Gene Encoding ◽  
Coding Sequence ◽  
Junction Protein ◽  
Tailbud Stage ◽  
Gap Junction Protein

Cloned complementary DNAs representing the complete coding sequence for an embryonic gap junction protein in the frog Xenopus laevis have been isolated and sequenced. The cDNAs hybridize with an RNA of 1.5 kb that is first detected in gastrulating embryos and accumulates throughout gastrulation and neurulation. By the tailbud stage, the highest abundance of the transcript is found in the region containing ventroposterior endoderm and the rudiment of the liver. In the adult, transcripts are present in the lungs, alimentary tract organs, and kidneys, but are not detected in the brain, heart, body wall and skeletal muscles, spleen, or ovary. The gene encoding this embryonic gap junction protein is present in only one or a few copies in the frog genome. In vitro translation of RNA synthesized from the cDNA template produces a 30-kD protein, as predicted by the coding sequence. This product has extensive sequence similarity to mammalian gap junction proteins in its putative transmembrane and extracellular domains, but has diverged substantially in two of its intracellular domains.

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