Mutational analysis of the connexin 36 gene (CX36) and exclusion of the coding sequence as a candidate region for catatonic schizophrenia in a large pedigree.
The murine connexin 36 gene (Cx36) encodes a gap-junction channel protein which is preferentially expressed in brain and retina. The human orthologue CX36 is located on chromosome 15q14, a region recently shown to contain a susceptibility gene for hereditary catatonic schizophrenia. Therefore, CX36 was considered as a positional candidate for mutational analysis. Three polymorphic sites within CX36 were found by sequencing the two exons, the intron-exon boundaries and the putative promoter region of the gene derived from patients and control subjects. No variant exclusively cosegregates with the disease in a large pedigree that mainly supports the chromosome 15q14 locus, providing evidence that CX36 is not causative for the pathogenesis of catatonic schizophrenia in this family.
D002884:Chromosomes, Human, Pair 15; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics; D012560:Schizophrenia, Catatonic / Q000235:genetics*; D000097004:Gap Junction delta-2 Protein
D017630:Connexins; D000097004:Gap Junction delta-2 Protein