Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene

Journal Article · Sat Jun 01 04:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0266· OSTI ID:476775

Levy-Lahad, E ^[1]; Wang, Kai; Fu, Ying Hui ^[2]

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1. Univ. of Washington, Seattle, WA (United States)
2. 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, Journal Name: Genomics Journal Issue: 2 Vol. 34; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DNA SEQUENCING
DNA-CLONING
DOMINANT MUTATIONS
ETIOLOGY
EXONS
GENE MUTATIONS
GENE REGULATION
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 1
INTRONS
MAN
MENTAL DISORDERS
NERVOUS SYSTEM DISEASES
POLYMERASE CHAIN REACTION
SPLICING
STRUCTURE-ACTIVITY RELATIONSHIPS
TISSUE DISTRIBUTION
TRANSCRIPTION