Genomic organization and refined mapping of the mouse beta-dystrobrevin gene

Loh, N. Y., Ambrose, H. J., Guay-Woodford, L. M., DasGupta, S., Nawrotzki, R. A., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, K. E. 1998. Genomic organization and refined mapping of the mouse beta-dystrobrevin gene. Mammalian Genome 9 (11) , pp. 857-862.

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Abstract

beta-Dystrobrevin, a dystrophin-related protein that is expressed in non-muscle tissues, is highly homologous to alpha-dystrobrevin, a member of the dystrophin-associated protein complex (DPC). beta-Dystrobrevin associates with Dp71 and syntrophin and is believed to have a role in non-muscle DPCs. Here we report the characterization and mapping of the mouse beta-dystrobrevin gene. The mouse beta-dystrobrevin gene is organized into 21 exons spanning over 130 kb of DNA. We provide evidence that this gene is transcribed from at least two promoter regions but appears to utilize a common translation initiation site. We show that the similarity between beta-dystrobrevin and alpha-dystrobrevin is reflected in the conservation of their exon-intron junctions. beta-Dystrobrevin has been localized to proximal mouse Chromosome (Chr) 12 by backcross mapping. A database search revealed that two mouse genetic diseases involving tissues expressing beta-dystrobrevin have been mapped to this region, namely, congenital polycystic kidneys (cpk) and fatty liver dystrophy (fld). However, refined mapping analysis has excluded beta-dystrobrevin as a candidate gene for either disease.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Springer Verlag
ISSN:	0938-8990
Last Modified:	31 Oct 2022 09:34
URI:	https://orca.cardiff.ac.uk/id/eprint/81544

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