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DMWD  -  dystrophia myotonica, WD repeat containing

Homo sapiens

Synonyms: D19S593E, DM9, DMR-N9, DMRN9, Dystrophia myotonica WD repeat-containing protein, ...
 
 
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Disease relevance of DMWD

 

High impact information on DMWD

  • 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 [2].
  • We have identified a polymorphism in this gene and developed a quantitative allele-specific assay for DMWD RNA levels, which we have applied to nuclear and cytoplasmic fractions of RNA from DM cell lines [1].
  • From day 14.5 onwards DMR-N9 mRNAs were detected in all neural tissues, especially in the telencephalon and mesencephalon [3].
  • P59 (FK506 binding protein 59) interaction with heat shock proteins is highly conserved and may involve proteins other than steroid receptors [4].
 

Other interactions of DMWD

  • By the use of a standard curve and an endogenous control, we have applied the TaqMan system for absolute quantification of the expression levels of the three genes (DMPK, DMWD, and SIX5) in the same tissue sample [5].
 

Analytical, diagnostic and therapeutic context of DMWD

  • 16S rDNA sequence analysis led to the classification of these dichloromethane-utilizers in the genus Methylopila as a new species - Methylopila helvetica sp.nov. with the type strain DM9 (=VKM B-2189) [6].

References

  1. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Alwazzan, M., Newman, E., Hamshere, M.G., Brook, J.D. Hum. Mol. Genet. (1999) [Pubmed]
  2. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Jansen, G., Mahadevan, M., Amemiya, C., Wormskamp, N., Segers, B., Hendriks, W., O'Hoy, K., Baird, S., Sabourin, L., Lennon, G. Nat. Genet. (1992) [Pubmed]
  3. Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Jansen, G., Bächner, D., Coerwinkel, M., Wormskamp, N., Hameister, H., Wieringa, B. Hum. Mol. Genet. (1995) [Pubmed]
  4. P59 (FK506 binding protein 59) interaction with heat shock proteins is highly conserved and may involve proteins other than steroid receptors. Tai, P.K., Chang, H., Albers, M.W., Schreiber, S.L., Toft, D.O., Faber, L.E. Biochemistry (1993) [Pubmed]
  5. Real-time RT-PCR for CTG repeat-containing genes. Eriksson, M. Methods Mol. Biol. (2004) [Pubmed]
  6. Methylopila helvetica sp. nov. and Methylobacterium dichloromethanicum sp. nov.--novel aerobic facultatively methylotrophic bacteria utilizing dichloromethane. Doronina, N.V., Trotsenko, Y.A., Tourova, T.P., Kuznetsov, B.B., Leisinger, T. Syst. Appl. Microbiol. (2000) [Pubmed]
 
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