A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

Human Molecular Genetics
C A BoucherF L Chartier

Abstract

Myotonic dystrophy (DM) is associated with a (CTG)n trinucleotide repeat expansion in the 3'-untranslated region of a protein kinase-encoding gene, DMPK, which maps to chromosome 19q13.3. Characterisation of the expression of this gene in patient tissues has thus far generated conflicting data on alterations in the steady state levels of DMPK mRNA, and on the final DMPK protein levels in the presence of the expansion. The DM region of chromosome 19 is gene rich, and it is possible that the repeat expansion may lead to dysfunction of a number of transcription units in the vicinity, perhaps as a consequence of chromatin disruption. We have searched for genes associated with a CpG island at the 3' end of DMPK. Sequencing of this region shows that the island extends over 3.5 kb and is interrupted by the (CTG)n repeat. Comparison of genomic sequences downstream (centromeric) of the repeat in human and mouse identified regions of significant homology. These correspond to exons of a gene predicted to encode a homeodomain protein. RT-PCR analysis shows that this gene, which we have called DM locus-associated homeodomain protein (DMAHP), is expressed in a number of human tissues, including skeletal muscle, heart and brain.

Citations

Jul 6, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·K KawakamiK Ikeda
Aug 10, 2002·Current Neurology and Neuroscience Reports·Laura P W Ranum, John W Day
Jan 29, 2005·Current Neurology and Neuroscience Reports·John W Day, Laura P W Ranum
Feb 23, 2002·Current Treatment Options in Cardiovascular Medicine·Bhavesh SachdevWilliam J. McKenna
Jun 7, 2003·Advances in Enzyme Regulation·Nadir M MaraldiFrancesco A Manzoli
Nov 7, 1998·Biochimica Et Biophysica Acta·H C SeoA Fjose
Jan 1, 1996·Ryōikibetsu shōkōgun shirīzu·T TamuraT Ishihara
Nov 24, 2001·Brain Research Bulletin·K Larkin, M Fardaei
Jun 1, 1997·Current Opinion in Cell Biology·P S Reddy, D E Housman
May 1, 1997·Neuromuscular Disorders : NMD·T AnsvedM Anvret
Jun 6, 2000·Neuromuscular Disorders : NMD·G E Morris
Nov 4, 2010·Human Molecular Genetics·Arturo López CastelChristopher E Pearson
Apr 29, 1998·Nucleic Acids Research·Z Korade-MirnicsE Hoffman
Apr 11, 2000·Nucleic Acids Research·S E HarrisK J Johnson
Mar 1, 1996·Acta Paediatrica·K Lindblad, M Schalling
Apr 21, 2001·Molecular and Cellular Biology·H OzakiK Kawakami
May 24, 2000·Journal of Clinical Pathology·C WinchesterM Thomas
Jul 25, 1998·Journal of Medical Genetics·B B de VriesM F Niermeijer
Nov 10, 2001·Annual Review of Genomics and Human Genetics·C J Cummings, H Y Zoghbi
Dec 19, 2008·PloS One·Warunee DansithongSita Reddy
Apr 16, 2013·BioMed Research International·Dušanka Savić PavićevićStanka Romac
Aug 31, 2001·Biochemical and Biophysical Research Communications·M ErikssonT Ansved
Jul 8, 1997·Proceedings of the National Academy of Sciences of the United States of America·B M DavisD E Housman
Nov 25, 1998·Proceedings of the National Academy of Sciences of the United States of America·F SpitzP Maire
Jul 8, 1997·Proceedings of the National Academy of Sciences of the United States of America·M G HamshereJ D Brook
Jun 26, 2008·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Bahareh ShojasaffarHossein Najmabadi
Jun 4, 1998·Current Opinion in Genetics & Development·S J TapscottC D Laird
Jun 22, 2002·Current Opinion in Genetics & Development·Laura P W Ranum, John W Day
Aug 1, 1992·Matrix : Collagen and Related Research·P RooneyJ McClure
Aug 1, 1992·Matrix : Collagen and Related Research·P H ByersJ Uitto
Jul 5, 2011·Trends in Molecular Medicine·Mário Gomes-PereiraGeneviève Gourdon
Jan 11, 2005·Neuromuscular Disorders : NMD·John W Day, Laura P W Ranum
Apr 6, 2004·American Journal of Human Genetics·Laura P W Ranum, John W Day
Feb 11, 1999·American Journal of Human Genetics·L T Timchenko
Sep 1, 2004·Neuromuscular Disorders : NMD·Partha S SarkarSita Reddy

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.