The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs

Biochemical and Biophysical Research Communications
Alessandra Ferlini, Francesco Muntoni

Abstract

We have characterised the 2371 bp 5' end of intron 11 of the dystrophin gene. Comparative analysis of this intronic region revealed homologies with the following sequences: regions containing mobile elements; target sites for numerous transcription factors, two resolvases, and a histone-like DNA binding protein; three eukaryotic promoters. In addition, we identified three partially overlapping ORFs, and transcription analysis confirmed that one of these is expressed, representing the first gene reported to overlap the human dystrophin gene. We have also characterised a 136 bp sequence rearranged in intron 11 in a patient affected by X-linked dilated cardiomyopathy due to a dystrophinopathy. This is a multiple copy sequence with features of a repetitive element. Its comparative analysis showed a very high homology with human genomic and EST regions, adjacent and clustered with Alu, LINE1, and THE elements. The pattern of homology suggests that it may represent a novel Alu-like, transcriptionally active sequence with a possible retrotransposable capacity. We hypothesise that the 5' region of the dystrophin intron 11, containing common target areas for the insertion of mobile elements, may have a role in the rearrangement of this ...Continue Reading

References

Dec 1, 1992·Mutation Research·J Favor, C Morawetz
May 1, 1990·Genomics·B LevinsonJ Gitschier
Nov 25, 1983·Nucleic Acids Research·L M KunkelS A Latt

❮ Previous
Next ❯

Citations

Nov 13, 2008·Cytotechnology·Niall BarronMohan Muniyappa
Sep 29, 2009·Neuromuscular Disorders : NMD·Jana SedláckováLenka Fajkusová
Jul 30, 2008·Human Mutation·Madhuri R HegdeMichael E Zwick
Aug 18, 2010·Laboratory Investigation; a Journal of Technical Methods and Pathology·Bruce F SmithDongsheng Duan
Sep 1, 2005·Journal of Human Genetics·Van Khanh TranMasafumi Matsuo
Mar 17, 2020·Journal of Neuromuscular Diseases·Niall P Keegan
Jul 17, 1999·Neuromuscular Disorders : NMD·A FerliniF Muntoni

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.