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...

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Bibliographic Details
Published in:Schizophrenia research 2002-11, Vol.58 (1), p.87-91
Main Authors: Meyer, Jobst, Mai, Marion, Ortega, Gabriela, Mössner, Rainald, Lesch, Klaus-Peter
Format: Article
Language:English
Subjects:
Adult and adolescent clinical studies
Biological and medical sciences
Catatonic schizophrenia
Chromosomes, Human, Pair 15
Connexin
Connexins - genetics
DNA Mutational Analysis
Exons - genetics
Gap Junction delta-2 Protein
Gene Frequency
Genetic Linkage
Genetic Predisposition to Disease - genetics
Humans
Introns - genetics
Medical sciences
Mutation
Mutation analysis
Open Reading Frames - genetics
Pedigree
Polymorphism, Genetic
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Psychoses
Regulatory Sequences, Nucleic Acid - genetics
Schizophrenia
Schizophrenia, Catatonic - genetics
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Summary: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.
ISSN:0920-9964
1573-2509
DOI:10.1016/S0920-9964(02)00206-2