Literature DB >> 1302022

Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs.

G Jansen1, M Mahadevan, C Amemiya, N Wormskamp, B Segers, W Hendriks, K O'Hoy, S Baird, L Sabourin, G Lennon.   

Abstract

The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA splicing in both human and mouse. The unstable [CTG]5-30 motif is found uniquely in humans, although the flanking nucleotides are also present in mouse. Characterization of the DM region of both species reveals another active gene (DMR-N9) in close proximity to the kinase gene. DMR-N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown. Clinical manifestation of DM may be caused by the expanded CTG-repeat compromising the (alternative) expression of DM-kinase or DMR-N9 proteins.

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1302022     DOI： 10.1038/ng0792-261

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  32 in total

1.  Instability versus predictability: the molecular diagnosis of myotonic dystrophy.

Authors:  G K Suthers; S M Huson; K E Davies
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

2.  Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.

Authors:  M G Hamshere; E E Newman; M Alwazzan; B S Athwal; J D Brook
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-08       Impact factor: 11.205

3.  Identification of a novel protein, DMAP, which interacts with the myotonic dystrophy protein kinase and shows strong homology to D1 snRNP.

Authors:  Y H Fu
Journal:  Genetica       Date:  1996-01       Impact factor: 1.082

4.  Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells.

Authors:  A A Benders; P J Groenen; F T Oerlemans; J H Veerkamp; B Wieringa
Journal:  J Clin Invest       Date:  1997-09-15       Impact factor: 14.808

Review 5.  Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.

Authors:  P N Strong; B S Brewster
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

6.  Evolutionary origin of expandable G-C-rich triplet repeat DNA sequences.

Authors:  W G Cooper
Journal:  Biochem Genet       Date:  1995-06       Impact factor: 1.890

Review 7.  Heritable trinucleotide repeats and neurological disorders.

Authors:  B S Shastry
Journal:  Experientia       Date:  1994-11-30

8.  Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Authors:  H G Brunner; H T Brüggenwirth; W Nillesen; G Jansen; B C Hamel; R L Hoppe; C E de Die; C J Höweler; B A van Oost; B Wieringa
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

9.  Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients.

Authors:  A A Benders; J A Timmermans; A Oosterhof; H J Ter Laak; T H van Kuppevelt; R A Wevers; J H Veerkamp
Journal:  Biochem J       Date:  1993-07-01       Impact factor: 3.857

10.  A study of DNA methylation in myotonic dystrophy.

Authors:  D J Shaw; S Chaudhary; S A Rundle; S Crow; J D Brook; P S Harper; H G Harley
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.