Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia
| Autor: | Sheila Christie, David J. Porteous, D Hsiao-Wei Loh, Benoit Arveiler, J K Millar, D. H. R. Blackwood, D. Lawson, Susan Anderson, Walter J. Muir, Rebecca S. Devon |
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| Rok vydání: | 2001 |
| Předmět: |
Genetic Markers
Candidate gene Genetic Linkage Molecular Sequence Data Translocation Breakpoint Nerve Tissue Proteins Translocation Genetic Cell Line Cellular and Molecular Neuroscience DISC1 Exon DISC2 Genetic linkage Humans Molecular Biology Gene In Situ Hybridization Fluorescence Genetics biology Genome Human Introns Psychiatry and Mental health Schizophrenia biology.protein Human genome RNA Splice Sites |
| Zdroj: | Molecular Psychiatry. 6:173-178 |
| ISSN: | 1476-5578 1359-4184 |
| DOI: | 10.1038/sj.mp.4000784 |
| Popis: | Two overlapping and antiparallel genes on chromosome 1, Disrupted In Schizophrenia 1 and 2 (DISC1 and DISC2), are disrupted by a (1;11)(q42.1;q14.3) translocation which segregates with schizophrenia through at least four generations of a large Scottish family. Consequently, these genes are worthy of further investigation as candidate genes potentially involved in the aetiology of major psychiatric illness. We have constructed a contiguous clone map of PACs and cosmids extending across at least 400 kb of the chromosome 1 translocation breakpoint region and this has provided the basis for examination of the genomic structure of DISC1. The gene consists of thirteen exons, estimated to extend across at least 300 kb of DNA. The antisense gene DISC2 overlaps with exon 9. Exon 11 contains an alternative splice site that removes 66 nucleotides from the open reading frame. The final intron of DISC1 belongs to the rare AT-AC class of introns. We have also mapped marker DIS251 in close proximity to DISC1, localising the gene within a critical region identified by several independent studies. Information regarding the structure of the DISC1 gene will facilitate assessment of its involvement in the aetiology of major mental illness in psychotic individuals unrelated to carriers of the translocation. |
| Databáze: | OpenAIRE |
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