Structural and functional diversity of connexin genes in the mouse and human genome

Biological Chemistry

Volumn 383, Issue 5, 2002, Pages 725-737

  Willecke, Klaus ^a   Eiberger, Jürgen ^a   Degen, Joachim ^a   Eckardt, Dominik ^a   Romualdi, Alessandro ^a   Güldenagel, Martin ^a   Deutsch, Urban ^a   Söhl, Goran ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Alternative splicing; Connexin deficient mice; Human connexin genes; Human connexin mutants; Mouse connexin genes

Indexed keywords

GAP JUNCTION PROTEIN; ION; PROTEIN SUBUNIT;

ANIMAL TISSUE; CATARACT; CELL COMMUNICATION; CELL MEMBRANE; CONTROLLED STUDY; DATA BASE; DIFFUSION; EXON; GAP JUNCTION; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN GENOME; MEMBRANE CHANNEL; METABOLITE; MOUSE; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; ALTERNATIVE RNA SPLICING; ANIMAL; CELL JUNCTION; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE TARGETING; GENETIC DISORDER; GENETICS; GENOME; PHYSIOLOGY; TRANSGENIC MOUSE;

ALTERNATIVE SPLICING; ANIMAL; CONNEXINS; FRAMESHIFT MUTATION; GAP JUNCTIONS; GENE EXPRESSION; GENE TARGETING; GENETIC DISEASES, INBORN; GENOME, HUMAN; HUMAN; MICE; MICE, TRANSGENIC; SUPPORT, NON-U.S. GOV'T; ANIMALS; HUMANS;

ANIMALIA; RODENTIA; RUMEX;

EID: 0035985057     PISSN: 14316730     EISSN: None     Source Type: Journal    
DOI: 10.1515/BC.2002.076     Document Type: Review

References (103)

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4. A targeted disruption in connexin40 leads to distinct atrioventricular conduction defects
5. Connexin43: A protein from rat heart homologous to a gap junction protein from liver
6. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
7. Cx36 and the function of endocrine pancreas
8. Enhanced secretion of amylase from exocrine pancreas of connexin32-deficient mice
9. Junctional communication of pancreatic beta cells contributes to the control of insulin secretion and glucose tolerance
10. Cloning of a new gap junction gene (Cx36) highly expressed in mammalian brain neurons
11. Impaired conduction of vasodilation along arterioles in connexin40-deficient mice
12. Synchronous activity of inhibitory networks in neocortex requires electrical synapses containing connexin36
13. The diversity of connexin genes in the mouse and human genome
14. Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells
15. Expression of neuronal connexin36 in All amacrine cells of the mammalian retina
16. The human connexin gene family of gap junction proteins: Distinct chromosomal locations but similar structures
17. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
18. Organization and regulation of the rat Cx31 gene. Implication for a crucial role of the intron region
19. Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy
20. The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein
21. Disruption of α3 connexin gene leads to proteolysis and cataractogenesis in mice
22. Mutations in GJB6 cause non-syndromic autosomal dominant deafness at DFNA3 locus
23. Genomic organization of the rat connexin40 gene: Identical transcription start sites in heart and lung
24. Expression patterns of connexin genes in mouse retina
25. Visual transmission deficits in mice with targeted disruption of the gap junction gene connexin36
26. Conduction slowing and sudden arrhythmic death in mice with cardiac-restricted inactivation of connexin43
27. Conduction disturbances and increased atrial vulnerability in Connexin40-deficient mice analyzed by transesophageal stimulation
28. Molecular cloning of mouse connexins26 and -32: Similar genomic organization but distinct promoter sequences of two gap junction genes
29. Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: Molecular cloning of mouse connexin31 and -45 cDNAs
30. Impaired electrical signaling disrupts gamma frequency oscillations in connexin 36-deficient mice
31. Doubly mutant mice, deficient in connexin32 and -43, show normal prenatal development of organs where the two gap junction proteins are expressed in the same cells
32. Mouse connexin 45: Genomic cloning and exon usage
33. Defects in the germ line and gonads of mice lacking connexin43
34. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
35. Upstream genomic sequence of the human connexin26 gene
36. Intercellular communication in preimplantation development: The role of gap junctions
37. Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice
38. Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice
39. The scanning model for translation: An update
40. Altered dye diffusion and upregulation of Connexin37 in mouse aortic endothelium deficient in Connexin40
41. Defective vascular development in connexin 45-deficient mice
42. Loss of connexin45 causes a cushion defect in early cardiogenesis
43. The gap junction communication channel
44. Regulation of gap junctions by phosphorylation of connexins
45. Expression of the gap-junction connexins 26 and 30 in the rat cochlea
46. Endothelial cell-specific knockout of connexin43 causes hypotension and bradycardia in mice
47. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
48. The role of gap junction membrane channels in development
49. Gap junction communication and the modulation of cardiac neural crest cells
50. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
51. Connexin46 mutations in autosomal dominant congenital cataract
52. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
53. Gap junction structures. II. Analysis of the X-ray diffraction data
54. Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels
55. Molecular cloning and functional expression of the mouse gap junction gene connexin 57 in human HeLa cells
56. Molecular determinants of neural crest migration
57. Gap junction involvement in secretion: The pancreas experience
58. Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice
59. Use of alternate promoters for tissue-specific expression of the gene coding for connexin32
60. Molecular cloning and expression pattern of a putative novel human connexin (Cx31.9)
61. Strongly decreased gap junctional permeability to inositol 1,4,5-trisphosphate in connexin32 deficient hepatocytes
62. Selective permeability of different connexin channels to the second messenger inositol 1,4,5-trisphosphate
63. Molecular mechanism underlying a Cx50-linked congenital cataract
64. Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy
65. Innexins get into the gap
66. Unique and shared functions of different connexins in mice
67. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation
68. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding β connexins
69. Cardiac malformation in neonatal mice lacking connexin43
70. Connexins: A connection with the skin
71. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
72. Introduction to the structure and functions of junction communications or gap junctions
73. Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridization
74. Cx36 preferentially connects β-cells within pancreatic islets
75. Mouse connexin37: Gene structure and promoter analysis
76. Mouse connexin40: Gene structure and promoter analysis
77. Female infertility in mice lacking connexin37
78. Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block
79. A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve
80. The murine gap junction gene connexin36 is highly expressed in mouse retina and regulated during brain development
81. Connexin expression in the retina
82. A new alternatively spliced transcript of the mouse connexin32 gene is expressed in embryonic stem cells, oocytes, and liver
83. The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain development
84. High-resolution optical mapping of the right bundle branch in connexin40 knockout mice reveals slow conduction in the specialized conduction system
85. The extent of synchronous initiation and termination of DNA synthesis in regenerating mouse liver is dependent on connexin32 expressing gap junctions
86. Dilated bile canaliculi and attenuated decrease of nerve dependent bile secretion in connexin32 deficient mouse liver
87. Functional expression of the new gap junction gene connexin47 transcribed in mouse brain and spinal cord neurons
88. Endothelium-specific replacement of the connexin43 coding region by a lacZ reporter gene
89. Direct association of the gap junction protein connexin-43 with ZO-1 in cardiac myocytes
90. Structure of the junction between communicating cells
91. Null mutation of connexin43 causes slow propagation of ventricular activation in the late stages of mouse embryonic development
92. Electrophysiological properties of gap junction channels in hepatocytes isolated from connexin32-deficient and wild-type mice
93. Impaired conduction in the bundle branches of mouse hearts lacking the gap junction protein connexin40
94. Connexin expression in electrically coupled postnatal rat brain neurons
95. Cardiac conduction abnormalities in mice lacking the gap junction protein connexin40
96. IRES elements in connexin genes: A hypothesis explaining the need for connexins to be regulated at the translational level
97. Genetic diseases and gene knockouts reveal diverse connexin functions
98. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
99. Heart defects in connexin43-deficient mice
100. Structure of gap junction intercellular channels
101. Synthesis, assembly and structure of gap junction intercellular channels
102. The connexin43 gene is responsive to oestrogen