Gja8

Summary

Gene Symbol: Gja8
Description: gap junction protein, alpha 8
Alias: Aey5, Cnx50, Cx50, Lop10, gap junction alpha-8 protein, alpha 8 connexin, connexin-50, gap junction membrane channel protein alpha 8, lens fiber protein MP70, lens opacity 10
Species: mouse
Products:     Gja8

Top Publications

  1. Schwarz H, Chang Y, Lalley P, Willecke K. Chromosomal assignments of mouse genes for connexin 50 and connexin 33 by somatic cell hybridization. Somat Cell Mol Genet. 1994;20:243-7 pubmed
    ..X Chinese hamster somatic cell hybrids and molecular probes of murine connexin genes, we have assigned the connexin 50 gene to mouse chromosome 3...
  2. Deussing J, Roth W, Rommerskirch W, Wiederanders B, Von Figura K, Peters C. The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes. Mamm Genome. 1997;8:241-5 pubmed
  3. Gong X, Baldo G, Kumar N, Gilula N, Mathias R. Gap junctional coupling in lenses lacking alpha3 connexin. Proc Natl Acad Sci U S A. 1998;95:15303-8 pubmed
    ..cells of the lens are interconnected by an extensive network of gap junctions containing alpha3 (Cx46) and alpha8 (Cx50) connexins. A specific role for these connexins in lens homeostasis is not known...
  4. Sellitto C, Li L, White T. Connexin50 is essential for normal postnatal lens cell proliferation. Invest Ophthalmol Vis Sci. 2004;45:3196-202 pubmed
    Connexin50 (Cx50) is absolutely essential for normal postnatal lens growth. Deletion of Cx50 or replacement with Cx46 by knockin resulted in smaller lenses containing fewer cells...
  5. Peracchia C, Peracchia L. Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50. Am J Physiol Cell Physiol. 2005;288:C1381-9 pubmed
    ..on transjunctional voltage (V(j)) gating was studied by dual voltage-clamp in oocytes expressing mouse connexin 50 (Cx50) or a Cx50 mutant (Cx50-D3N), in which the third residue, aspartate (D), was mutated to asparagine (N)...
  6. DeRosa A, Xia C, Gong X, White T. The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins. J Cell Sci. 2007;120:4107-16 pubmed
    Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes...
  7. White T, Bruzzone R, Goodenough D, Paul D. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell. 1992;3:711-20 pubmed
    ..gap junction proteins, Cx50, and have shown that it is likely to correspond to the previously described lens fiber protein MP70. The N-terminal amino acid sequence of MP70 closely matches the sequence predicted by the clone...
  8. Runge P, Hawes N, Heckenlively J, Langley S, Roderick T. Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes. Invest Ophthalmol Vis Sci. 1992;33:3202-8 pubmed
    ..Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene. ..
  9. DeRosa A, Mese G, Li L, Sellitto C, Brink P, Gong X, et al. The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium. Exp Cell Res. 2009;315:1063-75 pubmed publisher
    Mutations in Connexin50 (Cx50) cause cataracts in both humans and mice. The mechanism(s) behind how mutated connexins lead to a variety of cataracts have yet to be fully elucidated...
  10. Cheng C, Xia C, Li L, White T, Niimi J, Gong X. Gap junction communication influences intercellular protein distribution in the lens. Exp Eye Res. 2008;86:966-74 pubmed publisher
    ..Although the mechanism that drives GFP transport between fiber cells remains unknown, this work reveals that gap junction communication plays a novel role in the regulation of intercellular protein distribution in the lens. ..

Detail Information

Publications72

  1. Schwarz H, Chang Y, Lalley P, Willecke K. Chromosomal assignments of mouse genes for connexin 50 and connexin 33 by somatic cell hybridization. Somat Cell Mol Genet. 1994;20:243-7 pubmed
    ..X Chinese hamster somatic cell hybrids and molecular probes of murine connexin genes, we have assigned the connexin 50 gene to mouse chromosome 3...
  2. Deussing J, Roth W, Rommerskirch W, Wiederanders B, Von Figura K, Peters C. The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes. Mamm Genome. 1997;8:241-5 pubmed
  3. Gong X, Baldo G, Kumar N, Gilula N, Mathias R. Gap junctional coupling in lenses lacking alpha3 connexin. Proc Natl Acad Sci U S A. 1998;95:15303-8 pubmed
    ..cells of the lens are interconnected by an extensive network of gap junctions containing alpha3 (Cx46) and alpha8 (Cx50) connexins. A specific role for these connexins in lens homeostasis is not known...
  4. Sellitto C, Li L, White T. Connexin50 is essential for normal postnatal lens cell proliferation. Invest Ophthalmol Vis Sci. 2004;45:3196-202 pubmed
    Connexin50 (Cx50) is absolutely essential for normal postnatal lens growth. Deletion of Cx50 or replacement with Cx46 by knockin resulted in smaller lenses containing fewer cells...
  5. Peracchia C, Peracchia L. Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50. Am J Physiol Cell Physiol. 2005;288:C1381-9 pubmed
    ..on transjunctional voltage (V(j)) gating was studied by dual voltage-clamp in oocytes expressing mouse connexin 50 (Cx50) or a Cx50 mutant (Cx50-D3N), in which the third residue, aspartate (D), was mutated to asparagine (N)...
  6. DeRosa A, Xia C, Gong X, White T. The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins. J Cell Sci. 2007;120:4107-16 pubmed
    Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes...
  7. White T, Bruzzone R, Goodenough D, Paul D. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell. 1992;3:711-20 pubmed
    ..gap junction proteins, Cx50, and have shown that it is likely to correspond to the previously described lens fiber protein MP70. The N-terminal amino acid sequence of MP70 closely matches the sequence predicted by the clone...
  8. Runge P, Hawes N, Heckenlively J, Langley S, Roderick T. Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes. Invest Ophthalmol Vis Sci. 1992;33:3202-8 pubmed
    ..Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene. ..
  9. DeRosa A, Mese G, Li L, Sellitto C, Brink P, Gong X, et al. The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium. Exp Cell Res. 2009;315:1063-75 pubmed publisher
    Mutations in Connexin50 (Cx50) cause cataracts in both humans and mice. The mechanism(s) behind how mutated connexins lead to a variety of cataracts have yet to be fully elucidated...
  10. Cheng C, Xia C, Li L, White T, Niimi J, Gong X. Gap junction communication influences intercellular protein distribution in the lens. Exp Eye Res. 2008;86:966-74 pubmed publisher
    ..Although the mechanism that drives GFP transport between fiber cells remains unknown, this work reveals that gap junction communication plays a novel role in the regulation of intercellular protein distribution in the lens. ..
  11. Xia C, Cheng C, Huang Q, Cheung D, Li L, Dunia I, et al. Absence of alpha3 (Cx46) and alpha8 (Cx50) connexins leads to cataracts by affecting lens inner fiber cells. Exp Eye Res. 2006;83:688-96 pubmed
    ..have been hypothesized to depend on intercellular gap junction channels, consisting of alpha3 (Cx46) and alpha8 (Cx50) connexin subunits, to transport metabolites, secondary messages and ions between lens cells...
  12. Xia C, Liu H, Cheung D, Cheng C, Wang E, Du X, et al. Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development. 2006;133:2033-40 pubmed
    Different mutations of alpha3 connexin (Cx46 or Gja8) and alpha8 connexin (Cx50 or Gja8), subunits of lens gap junction channels, cause a variety of cataracts via unknown mechanisms...
  13. Nielsen P, Baruch A, Shestopalov V, Giepmans B, Dunia I, Benedetti E, et al. Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1). Mol Biol Cell. 2003;14:2470-81 pubmed
    ..The spatial variation in the interaction of ZO-1 with lens gap junctions is intriguing and is suggestive of multiple dynamic roles for this association. ..
  14. White T. Unique and redundant connexin contributions to lens development. Science. 2002;295:319-20 pubmed
    ..Knockout of Cx46 causes a loss of homeostasis and cataracts. Deletion of Cx50 results in reduced ocular growth and cataracts...
  15. Gao J, Sun X, Martinez Wittinghan F, Gong X, White T, Mathias R. Connections between connexins, calcium, and cataracts in the lens. J Gen Physiol. 2004;124:289-300 pubmed
    ..test this calcium circulation hypothesis by studying calcium homeostasis in connexin (Cx46) knockout and (Cx46 for Cx50) knockin mouse lenses, which have different degrees of gap junction coupling...
  16. DeRosa A, Mui R, Srinivas M, White T. Functional characterization of a naturally occurring Cx50 truncation. Invest Ophthalmol Vis Sci. 2006;47:4474-81 pubmed
    ..functional consequences of this endogenous truncation by characterizing the properties of a C-terminal truncated Cx50 protein...
  17. Martinez Wittinghan F, Sellitto C, Li L, Gong X, Brink P, Mathias R, et al. Dominant cataracts result from incongruous mixing of wild-type lens connexins. J Cell Biol. 2003;161:969-78 pubmed
    ..In the lens, Cx46 and Cx50 provide the gap junctional coupling needed for homeostasis and growth...
  18. Gerido D, Sellitto C, Li L, White T. Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout mice. Invest Ophthalmol Vis Sci. 2003;44:2669-74 pubmed
    ..whether these two traits are influenced by genetic background and are dependent on each other, mice carrying the Cx50 deletion in two different strains were generated, and the growth defect and severity of cataracts were analyzed...
  19. Rong P, Wang X, Niesman I, Wu Y, Benedetti L, Dunia I, et al. Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development. 2002;129:167-74 pubmed
    ..communication network via gap junction channels, which are made up of at least three connexin isoforms, alpha8 (Cx50), alpha3 (Cx46) and alpha1 (Cx43), and which are encoded by three different genes...
  20. Baldo G, Gong X, Martinez Wittinghan F, Kumar N, Gilula N, Mathias R. Gap junctional coupling in lenses from alpha(8) connexin knockout mice. J Gen Physiol. 2001;118:447-56 pubmed
    Lens fiber cell gap junctions contain alpha(3) (Cx46) and alpha(8) (Cx50) connexins. To examine the roles of the two different connexins in lens physiology, we have genetically engineered mice lacking either alpha(3) or alpha(8) connexin...
  21. Evans C, Eastwood S, Rains J, Gruijters W, Bullivant S, Kistler J. Gap junction formation during development of the mouse lens. Eur J Cell Biol. 1993;60:243-9 pubmed
    ..Our results suggest that gap junctions in the central region of the developing mouse lens undergo sequential changes in immunoreactivity which may reflect potentially distinct functional phases of intercellular communication. ..
  22. White T, Paul D. Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol. 1999;61:283-310 pubmed
    ..In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity. ..
  23. Baruch A, Greenbaum D, Levy E, Nielsen P, Gilula N, Kumar N, et al. Defining a link between gap junction communication, proteolysis, and cataract formation. J Biol Chem. 2001;276:28999-9006 pubmed
  24. White T, Sellitto C, Paul D, Goodenough D. Prenatal lens development in connexin43 and connexin50 double knockout mice. Invest Ophthalmol Vis Sci. 2001;42:2916-23 pubmed
    ..and development, mice with a targeted deletion of the Cx43 gene were examined, and mice without both Cx43 and Cx50 were generated and analyzed...
  25. White T, Goodenough D, Paul D. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. J Cell Biol. 1998;143:815-25 pubmed
    ..Gap junctions in rodent lens fibers contain two known intercellular channel-forming proteins, connexin50 (Cx50) and Cx46...
  26. Chang B, Wang X, Hawes N, Ojakian R, Davisson M, Lo W, et al. A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum Mol Genet. 2002;11:507-13 pubmed
    ..We recently mapped an autosomal semi-dominant cataract [lens opacity 10 (Lop10)] mutation to mouse chromosome 3 and identified a missense mutation (G-->C) in the Gja8 gene, which ..
  27. Xia C, Cheung D, DeRosa A, Chang B, Lo W, White T, et al. Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation. J Cell Sci. 2006;119:2138-44 pubmed
    A G22R point mutation in alpha8 connexin (Cx50) has been previously shown to cause a severe cataract by interacting with endogenous wild-type alpha3 connexin (Cx46) in mouse lenses...
  28. Martinez Wittinghan F, Sellitto C, White T, Mathias R, Paul D, Goodenough D. Lens gap junctional coupling is modulated by connexin identity and the locus of gene expression. Invest Ophthalmol Vis Sci. 2004;45:3629-37 pubmed
    ..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) ..
  29. Ebihara L, Korzyukov Y, Kothari S, Tong J. Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cells. Am J Physiol Cell Physiol. 2014;306:C506-13 pubmed publisher
    ..to the basal membrane permeability of peripheral fiber cells isolated from transgenic mouse lenses lacking Cx50 or both Cx50 and Cx46 (dKO) using the whole cell patch-clamp technique...
  30. Berthoud V, Minogue P, Yu H, Schroeder R, Snabb J, Beyer E. Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation. Invest Ophthalmol Vis Sci. 2013;54:7614-22 pubmed publisher
    Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to autosomal dominant congenital cataracts in several human pedigrees...
  31. Peterfy M, Gyuris T, Antonio L, Takacs L. Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome. Gene. 1998;216:225-31 pubmed
    ..Our results indicate that only one of the three LIS1-related mouse loci (Pafaha/Lis1) is functional, in contrast with two closely related functional genes (LIS1 and LIS2) reported in humans. 1998 Elsevier Science B.V. ..
  32. Bodnar J, Chatterjee A, Castellani L, Ross D, Ohmen J, Cavalcoli J, et al. Positional cloning of the combined hyperlipidemia gene Hyplip1. Nat Genet. 2002;30:110-6 pubmed
    ..These results reveal a new pathway of potential clinical significance that contributes to plasma lipid metabolism. ..
  33. Ebihara L, Tong J, VERTEL B, White T, Chen T. Properties of connexin 46 hemichannels in dissociated lens fiber cells. Invest Ophthalmol Vis Sci. 2011;52:882-9 pubmed publisher
    ..Differentiating fiber cells were isolated from mouse lenses using collagenase. Cellular localization of connexin 50 (Cx50) and connexin 46 (Cx46) was assessed by immunofluorescence...
  34. Alapure B, Stull J, Firtina Z, Duncan M. The unfolded protein response is activated in connexin 50 mutant mouse lenses. Exp Eye Res. 2012;102:28-37 pubmed publisher
    ..While mutations in the gene for connexin 50 are known to cause autosomal dominant cataracts, it has not been previously reported whether mutant connexins ..
  35. Tong X, Aoyama H, Tsukihara T, Bai D. Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating. J Physiol. 2014;592:5187-202 pubmed publisher
    ..Specifically, G46D and G46E increased the Cx50 ?j from 201 to 256 and 293 pS, respectively and the G46K channel showed an apparent ?j of only 20 pS...
  36. Steele E, Lyon M, Favor J, Guillot P, Boyd Y, Church R. A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr Eye Res. 1998;17:883-9 pubmed
    ..The aim of this work was to identify and subsequently screen an optimal candidate gene for a mutation correlated and consistent with the observed phenotype...
  37. Bakthavachalu B, Kalanke S, Galande S, Ramanamurthy B, Parab P, Kohale K, et al. Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus. J Genet. 2010;89:147-54 pubmed
    ..3 and further mapping and sequence analysis identified the mutation in the GJA8 gene that encodes for connexin 50. The mutation represents a single nucleotide change at position 64 (G to C) that results in a change in the ..
  38. Pelletier R, Akpovi C, Chen L, Kumar N, Vitale M. Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes. Am J Physiol Regul Integr Comp Physiol. 2015;309:R255-76 pubmed publisher
    ..This report assesses mechanisms underlying the regulation of connexin 46 (Cx46) and Cx50 in mouse testis and those accompanying a "natural" seasonal and a pathological arrest of spermatogenesis, resulting ..
  39. Shakespeare T, Sellitto C, Li L, Rubinos C, Gong X, Srinivas M, et al. Interaction between Connexin50 and mitogen-activated protein kinase signaling in lens homeostasis. Mol Biol Cell. 2009;20:2582-92 pubmed publisher
    ..Activation of MAPK signaling pathways significantly increased coupling provided by Cx50, but not Cx46, in paired Xenopus laevis oocytes in vitro, as well as between freshly isolated lens cells in vivo...
  40. White T, Gao Y, Li L, Sellitto C, Srinivas M. Optimal lens epithelial cell proliferation is dependent on the connexin isoform providing gap junctional coupling. Invest Ophthalmol Vis Sci. 2007;48:5630-7 pubmed
    Gap junctions between epithelial cells are essential for normal lens growth. In mice, knockout of Cx50 or targeted replacement of Cx50 with Cx46 (knockin) caused smaller lenses because of decreased epithelial cell proliferation...
  41. Berthoud V, Minogue P, Lambert P, Snabb J, Beyer E. The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses. J Biol Chem. 2016;291:17569-78 pubmed publisher
  42. Logan C, Rajakaruna S, Bowen C, Radice G, Robinson M, Menko A. N-cadherin regulates signaling mechanisms required for lens fiber cell elongation and lens morphogenesis. Dev Biol. 2017;428:118-134 pubmed publisher
    ..The dependence of migration of the fiber cell apical domains along the EFI for lens morphogenesis on N-cadherin provides new insight into the process of tissue development. ..
  43. Maddala R, Nagendran T, de Ridder G, Schey K, Rao P. L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins. PLoS ONE. 2013;8:e64676 pubmed publisher
  44. Buniello A, Montanaro D, Volinia S, Gasparini P, Marigo V. An expression atlas of connexin genes in the mouse. Genomics. 2004;83:812-20 pubmed
  45. Li L, Cheng C, Xia C, White T, Fletcher D, Gong X. Connexin mediated cataract prevention in mice. PLoS ONE. 2010;5: pubmed publisher
    ..Thus, the use of an array of small molecules to promote lens homeostasis may become a feasible non-surgical approach for nuclear cataract prevention in the future. ..
  46. Simon A, Goodenough D. Diverse functions of vertebrate gap junctions. Trends Cell Biol. 1998;8:477-83 pubmed
  47. Zhou L, Chen T, Church R. Temporal expression of three mouse lens fiber cell membrane protein genes during early development. Mol Vis. 2002;8:143-8 pubmed
    Three different lens fiber cell intrinsic membrane proteins, MIP (Major Intrinsic Protein), MP19, and connexin50 (Cx50), have separately been implicated as causative candidates for congenital cataracts...
  48. Xia C, Chang B, DeRosa A, Cheng C, White T, Gong X. Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2. PLoS ONE. 2012;7:e52894 pubmed publisher
    ..This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or ?8 connexin) protein...
  49. Gao Y, Spray D. Structural changes in lenses of mice lacking the gap junction protein connexin43. Invest Ophthalmol Vis Sci. 1998;39:1198-209 pubmed
    ..Cx46 and Cx50 were also expressed in superficial and cortical fiber cells, with similar distributions in Cx43 (-/-) and wild-type ..
  50. Sohl G, Willecke K. An update on connexin genes and their nomenclature in mouse and man. Cell Commun Adhes. 2003;10:173-80 pubmed
    ..Furthermore, this short review contains an update on phenotypic correlations between connexin deficient mice and patients bearing mutations in their orthologous connexin genes. ..
  51. Xin L, Nakagawa S, Tsukihara T, Bai D. Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductance. Biophys J. 2012;102:1022-31 pubmed publisher
    ..acid residue (D) at the third position is critical in determining the voltage polarity of fast V(j)-gating of Cx50 channels...
  52. Chai Z, Goodenough D, Paul D. Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels. Mol Biol Cell. 2011;22:4503-12 pubmed publisher
    ..We found that Cx50 with PDZ-binding motif mutations did not form gap junction plaques or induce cell-cell communication in HeLa cells, ..
  53. Rubinos C, Villone K, Mhaske P, White T, Srinivas M. Functional effects of Cx50 mutations associated with congenital cataracts. Am J Physiol Cell Physiol. 2014;306:C212-20 pubmed publisher
    Mutations in connexin50 (Cx50) cause dominant cataracts in both humans and mice. The exact mechanisms by which mutations cause these variable phenotypes are poorly understood...
  54. Xu X, Ebihara L. Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. Invest Ophthalmol Vis Sci. 1999;40:1844-50 pubmed
    Recently, a missense mutation in the mouse connexin 50 (Cx50) gene has been associated with the nuclear opacity 2 (No2) mouse cataract...
  55. Graw J, Loster J, Soewarto D, Fuchs H, Meyer B, Reis A, et al. Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract. Exp Eye Res. 2001;73:867-76 pubmed
    ..This mutation results in Val-->Ala substitution at codon 64 of connexin50 (Cx50) also known as lens membrane protein 70 (MP70)...
  56. Yamashita S, Furumoto K, Nobukiyo A, Kamohara M, Ushijima T, Furukawa T. Mapping of A gene responsible for cataract formation and its modifier in the UPL rat. Invest Ophthalmol Vis Sci. 2002;43:3153-9 pubmed
    ..A candidate gene, connexin 50 (Cx50/Gja8), had a C-to-T transition at codon 340 that is predicted to result in a nonconservative substitution ..
  57. Chung J, Berthoud V, Novak L, Zoltoski R, Heilbrunn B, Minogue P, et al. Transgenic overexpression of connexin50 induces cataracts. Exp Eye Res. 2007;84:513-28 pubmed
    To examine the effects of increased expression of Cx50 in the mouse lens, transgenic mice were generated using a DNA construct containing the human Cx50 coding region and a C-terminal FLAG epitope driven by the chicken betaB1-crystallin ..
  58. Favor J. A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983;110:367-82 pubmed
  59. Chen Y, Zhou Y, Lin X, Wong H, Xu Q, Jiang J, et al. Molecular interaction and functional regulation of connexin50 gap junctions by calmodulin. Biochem J. 2011;435:711-22 pubmed publisher
    b>Cx50 (connexin50), a member of the ?-family of gap junction proteins expressed in the lens of the eye, has been shown to be essential for normal lens development...
  60. Kotsias B, Salim M, Peracchia L, Peracchia C. Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. J Membr Biol. 2006;214:1-8 pubmed
    ..between CFTR and gap junction channels, we coexpressed in Xenopus oocytes CFTR and either Cx45, Cx40, Cx32 or Cx50 and monitored junctional conductance (G (j)) and its sensitivity to transjunctional voltage (V (j)) by the dual ..
  61. Davies T, Barr K, Jones D, Zhu D, Kidder G. Multiple members of the connexin gene family participate in preimplantation development of the mouse. Dev Genet. 1996;18:234-43 pubmed
    ..The expression of multiple connexin genes during this early period of embryogenesis (when there are only two distinct cell types) raises questions about the functional significance of connexin diversity in this context. ..
  62. Dunia I, Cibert C, Gong X, Xia C, Recouvreur M, Levy E, et al. Structural and immunocytochemical alterations in eye lens fiber cells from Cx46 and Cx50 knockout mice. Eur J Cell Biol. 2006;85:729-52 pubmed
    ..the current study we describe the changes of overall organization of lens fiber cells in connexin 46 (Cx46) and connexin 50 (Cx50) knockout mice...
  63. Hart M, Korshunova Y, Cooper J. Mapping of the mouse actin capping protein alpha subunit genes and pseudogenes. Genomics. 1997;39:264-70 pubmed
    ..One mouse mutation, de, maps in the vicinity of the alpha 1 gene. No known mouse mutations map to regions near the alpha 2 or alpha 3 genes. ..
  64. Berthoud V, Minogue P, Yu H, Snabb J, Beyer E. Connexin46fs380 causes progressive cataracts. Invest Ophthalmol Vis Sci. 2014;55:6639-48 pubmed publisher
    ..reduced in both heterozygous and homozygous Cx46fs380 lenses at 1 month of age, whereas immunoreactive connexin50 (Cx50) was moderately decreased. The reduction in Cx50 became more severe in older lenses...
  65. Juneja S. mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouse. Indian J Physiol Pharmacol. 2003;47:147-56 pubmed
    ..The mRNA expression pattern of connexins (Cx26, Cx30.3, Cx31, Cx31.1, Cx32, Cx37, Cx40, Cx43, Cx45, Cx46 and Cx50) was analyzed by RT-PCR...
  66. Dorgau B, Herrling R, Schultz K, Greb H, Segelken J, Ströh S, et al. Connexin50 couples axon terminals of mouse horizontal cells by homotypic gap junctions. J Comp Neurol. 2015;523:2062-81 pubmed publisher
    ..We investigated the expression of Cx50, which was recently identified in axonless A-type horizontal cells of the rabbit retina...
  67. von Maltzahn J, Euwens C, Willecke K, Sohl G. The novel mouse connexin39 gene is expressed in developing striated muscle fibers. J Cell Sci. 2004;117:5381-92 pubmed
    ..As expression of no other known connexin could be verified in these cells, intercellular dye transfer might result from functional expression of Cx39 in developing striated muscle fibers. ..
  68. Wang E, Geng A, Maniar A, Mui B, Gong X. Connexin 50 Regulates Surface Ball-and-Socket Structures and Fiber Cell Organization. Invest Ophthalmol Vis Sci. 2016;57:3039-46 pubmed publisher
    The roles of gap junction protein connexin 50 (Cx50) encoded by Gja8, during lens development are not fully understood. Connexin 50 knockout (KO) lenses have decreased proliferation of epithelial cells and altered fiber cell denucleation...
  69. Forge A, Becker D, Casalotti S, Edwards J, Marziano N, Nevill G. Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. J Comp Neurol. 2003;467:207-31 pubmed
    ..Heteromeric cx26/cx30 connexons may be unique to the inner ear, which could be one factor underlying the non-syndromic character of the deafness caused by mutations in cx26. ..
  70. Kerscher S, Church R, Boyd Y, Lyon M. Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19). Genomics. 1995;29:445-50 pubmed
    ..The other two genes encode lens-specific gap junction and integral membrane proteins, respectively: The Gja8 locus encoding gap juction membrane channel protein alpha8, also called connexin50 or MP70, maps to chromosome 3, ..
  71. Zhao J, Izumi T, Nunomura K, Satoh S, Watanabe S. MARCKS-like protein, a membrane protein identified for its expression in developing neural retina, plays a role in regulating retinal cell proliferation. Biochem J. 2007;408:51-9 pubmed
    ..Mutation analysis of MLP demonstrated that myristoylation was necessary to promote proliferation and that phosphorylation inhibited proliferation, indicating the functional importance of membrane localization. ..
  72. Xin L, Gong X, Bai D. The role of amino terminus of mouse Cx50 in determining transjunctional voltage-dependent gating and unitary conductance. Biophys J. 2010;99:2077-86 pubmed publisher
    ..To better understand the molecular structure(s) determining the V(j)-gating properties and the ?(j) of Cx50, we have replaced part of the amino-terminus of mCx50 by the corresponding domain of mCx36 to engineer a chimera ..