Genomic organization of the mouse dystrobrevin gene: Comparative analysis with the dystrophin gene

Journal Article · Sat Feb 01 04:00:00 EST 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1996.4515· OSTI ID:476887

Ambrose, H J; Blake, D J; Nawrotzki, R A; Davies, K E ^[1]

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1. Univ. of Oxford (United Kingdom)

Dystrobrevin, the mammalian orthologue of the Torpedo 87-kDa postsynaptic protein, is a member of the dystrophin gene family with homology to the cysteine-rich carboxy-terminal domain of dystrophin. Torpedo dystrobrevin copurifies with the acetylcholine receptors and is thought to form a complex with dystrophin and syntrophin. This complex is also found at the sarcolemma in vertebrates and defines the cytoplasmic component of the dystrophin-associated protein complex. Previously we have cloned several dystrobrevin isoforms from mouse brain and muscle. Here we show that these transcripts are the products of a single gene located on proximal mouse chromosome 18. To investigate the diversity of dystrobrevin transcripts we have determined that the mouse dystrobrevin gene is organized into 24 coding exons that span between 130 and 170 kb at the genomic level. The gene encodes at least three distinct protein isoforms that are expressed in a tissue-specific manner. Interestingly, although there is only 27% amino acid identity between the homologous regions of dystrobrevin and dystrophin, the positions of 8 of the 15 exon-intron junctions are identical. 47 refs., 4 figs., 2 tabs.

• OSTI ID: 476887
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 39; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ACETYLCHOLINE
AMINO ACID SEQUENCE
CHROMOSOMES
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
GENE REGULATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
MICE
MUSCLES
PATHOGENESIS
POLYMERASE CHAIN REACTION
PROBES
PROTEINS
RECEPTORS
SPLICING
STRUCTURE-ACTIVITY RELATIONSHIPS
TISSUE DISTRIBUTION
TRANSCRIPTION