NA03987
DNA from Fibroblast
Description:
DYSTROPHIA MYOTONICA 1; DM1
DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Molecular characterization - other
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.47 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Distal weakness; clinical and electrical myotonia; cataracts; marked balding; see GM03986A Lymph; lymphoblast DNA studies showed expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats |
| Lee J, Li K, Zimmerman SC, A Selective Alkylating Agent for CTG Repeats in Myotonic Dystrophy Type 1 ACS chemical biology17:1103-1110 2022 |
| PubMed ID: 35483041 |
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| Neault N, O'Reilly S, Baig AT, Plaza-Diaz J, Azimi M, Farooq F, Baird SD, MacKenzie A, High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1) PloS one16:e0256276 2020 |
| PubMed ID: 34520479 |
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| Lee J, Bai Y, Chembazhi UV, Peng S, Yum K, Luu LM, Hagler LD, Serrano JF, Chan HYE, Kalsotra A, Zimmerman SC, Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1 Proceedings of the National Academy of Sciences of the United States of America116:8709-8714 2019 |
| PubMed ID: 30975744 |
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| de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011 |
| PubMed ID: 21247881 |
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| Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA, Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy Journal of cell science118:2923-33 2005 |
| PubMed ID: 15961406 |
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| Gorbunova V, Seluanov A, Mittelman D, Wilson JH, Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Hum Mol Genet13(23):2979-89 2004 |
| PubMed ID: 15459182 |
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| Savkur RS, Philips AV, Cooper TA, Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet29(1):40-7 2001 |
| PubMed ID: 11528389 |
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