Definition of regulatory sequence elements in the promoter region and the first intron of the myotonic dystrophy protein kinase gene.

The Journal of Biological Chemistry
Christopher J StorbeckRobert G Korneluk

Abstract

Myotonic dystrophy is the most common inherited adult neuromuscular disorder with a global frequency of 1/8000. The genetic defect is an expanding CTG trinucleotide repeat in the 3'-untranslated region of the myotonic dystrophy protein kinase gene. We present the in vitro characterization of cis regulatory elements controlling transcription of the myotonic dystrophy protein kinase gene in myoblasts and fibroblasts. The region 5' to the initiating ATG contains no consensus TATA or CCAAT box. We have mapped two transcriptional start sites by primer extension. Deletion constructs from this region fused to the bacterial chloramphenicol acetyltransferase reporter gene revealed only subtle muscle specific cis elements. The strongest promoter activity mapped to a 189-base pair fragment. This sequence contains a conserved GC box to which the transcription factor Sp1 binds. Reporter gene constructs containing a 2-kilobase pair first intron fragment of the myotonic dystrophy protein kinase gene enhances reporter activity up to 6-fold in the human rhabdomyosarcoma myoblast cell line TE32 but not in NIH 3T3 fibroblasts. Co-transfection of a MyoD expression vector with reporter constructs containing the first intron into 10 T1/2 fibroblasts...Continue Reading

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Citations

Feb 25, 2003·The American Journal of Pathology·Denis FurlingGlenn E Morris
Mar 17, 2000·Brain Research. Molecular Brain Research·T HolcombN P Curthoys
Jul 25, 2003·Biochimica Et Biophysica Acta·Qin-shi ZhuDaniel Levy
Aug 1, 2006·Nature Genetics·Mani S MahadevanLawrence H Phillips
Nov 23, 2010·Human Molecular Genetics·Masayuki NakamoriCharles A Thornton
Jan 13, 2016·Epigenomics·Lauren BuckleyMelanie Ehrlich
Apr 1, 2016·Molecular Biology of the Cell·Aymeric Ravel-ChapuisBernard J Jasmin
May 29, 2020·Molecular Biology and Evolution·Giulia Zancolli, Nicholas R Casewell
Apr 19, 2019·Human Molecular Genetics·Ramesh S YadavaMani S Mahadevan
Apr 18, 2021·Human Molecular Genetics·Ramesh S YadavaMani S Mahadevan

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