Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene
- Univ. of Washington, Seattle, WA (United States)
- Darwin Molecular, Bothell, WA (United States); and others
Mutations in the gene STM2 result in autosomal dominant familial Alzheimer disease. To screen for mutations and to identify regulatory elements for this gene, the genomic DNA sequence and intron-exon structure were determined. Twelve exons including 10 coding exons were identified in a genomic region spanning 23, 737 bp. The first 2 exons encode the 5{prime}-untranslated region. Expression analysis of STM2 indicates that two transcripts of 2.4 and 2.8 kb are found in skeletal muscle, pancreas, and heart. In addition, a splice variant of the 2.4-kb transcript was identified that is the result of the use of an alternative splice acceptor site located in exon 10. The use of this site results in a transcript lacking a single glutamate. The promotor for this gene and the alternatively spliced exons leading to the 2.8-kb form of the gene remain to be identified. Expression of STM2 was high in skeletal muscle and pancreas, with comparatively low levels observed in brain. This expression pattern is intriguing since in Alzheimer disease, pathology and degeneration are observed only in the central nervous system. 19 refs., 2 figs., 3 tabs.
- OSTI ID:
- 476775
- Journal Information:
- Genomics, Vol. 34, Issue 2; Other Information: PBD: 1 Jun 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
TISSUE DISTRIBUTION
DNA SEQUENCING
GENE REGULATION
TRANSCRIPTION
SPLICING
GENETIC MAPPING
STRUCTURE-ACTIVITY RELATIONSHIPS
GENE MUTATIONS
HUMAN CHROMOSOME 1
MAN
NERVOUS SYSTEM DISEASES
MENTAL DISORDERS
HEREDITARY DISEASES
EXONS
INTRONS
DNA-CLONING
POLYMERASE CHAIN REACTION
GENETICS
ETIOLOGY
DOMINANT MUTATIONS