The utrophin and dystrophin genes share similarities in genomic structure

Pearce, Marcela, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M., Byth, Barbara C., Campbell, Louise, Monaco, Anthony P. and Davies, Kay E. 1993. The utrophin and dystrophin genes share similarities in genomic structure. Human Molecular Genetics 2 (11) , pp. 1765-1772. 10.1093/hmg/2.11.1765

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Abstract

Utrophin and dystrophin are highly homologous proteins which are reciprocally expressed in DMD (Duchenne muscular dystrophy) muscle. The remarkable similarity of these proteins suggests that they may play a similar cellular role in some circumstances; If this were the case then utrophin may be capable of replacing dystrophin in DMD patients. In this paper we show that the genomic structure of the utrophin gene is similar to the dystrophin gene, further exemplifying the relatedness of the two genes and their gene products. We have constructed a 1.25Mb contig of eight yeast artificial chromosome (YAC) clones covering the utrophin gene located on chromosome 6q24. Utrophin is encoded by multiple small exons spanning approximately 900kb. The distribution of exons within the genomic DNA has similarities to that of the dystrophin gene. In contrast to dystrophin, the utrophin gene has a long 5' untranslated region composed of two exons and a cluster of unmethylated, rare-cutting restriction enzyme sites at the 5' end of the gene. Similarities between the genomic structure suggest that utrophin and dystrophin arose through an ancient duplication event involving a large region of genomic DNA.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Oxford University Press
ISSN:	0964-6906
Last Modified:	24 Oct 2022 11:52
URI:	https://orca.cardiff.ac.uk/id/eprint/49615

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