Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients

Neuromuscular Disorders

Volumn 9, Issue 4, 1999, Pages 215-219

  Gennarelli, M ^a   Pavoni, M ^a   Amicucci, P ^a   Angelini, C ^b   Menegazzo, E ^b   Zelano, G ^b   Novelli, G ^a   Dallapiccola, B ^a  

^a Dept Biopathology Diagn I   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Brain; CTG trinucleotide repeat; DMAHP; Dominant negative effect; Myotonic dystrophy; RT PCR

Indexed keywords

HOMEODOMAIN PROTEIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN REGION; CASE REPORT; CHROMOSOME 19Q; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; HUMAN; MALE; MUTATION; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA METABOLISM; TRINUCLEOTIDE REPEAT;

BRAIN CHEMISTRY; DNA; DNA PRIMERS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0032993793     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00003-6     Document Type: Article

References (22)

1. Harper PS. Myotonic dystrophy, 2nd ed. London: Saunders, 1989.
2. Brook J.D., McCurrach M.E., Harley H.G.et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell. 68:1992;799-808.
3. Fu Y.H., Pizzuti A., Fenwick R.G.et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 255:1992;1256-1258.
4. Harley G.H., Brook J.D., Shelley A.R.et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 355:1992;545-546.
5. Gacy A.M., Goellner G.M., Spiro C.et al. GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intrallelic mechanism with other trinucleotide diseases. Mol Cell. 1:1998;583-593.
6. n trinucleotide repeats. Am J Med Genet. 65:1996;342-347.
7. Ohya K., Tachi N., Sato T., Kon S., Kikuchi K., Chiba S. Detection of the CTG repeat expansion in congenital myotonic dystrophy. Jpn J Hum Genet. 42:1997;169-180.
8. Korade-Mirnics Z., Babitzke P., Hoffman E. Myotonic dystrophy: molecular windows on a complex etiology. Nucl Acid Res. 26:1998;363-1368.
9. Fu Y., Friedman D.L., Richards S.et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 260:1993;235-238.
10. Wang J., Pegoraro E., Menegazzo E., Gennarelli M., Hoop R.C., Angelini C., Hoffman E.P. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet. 4:1995;599-606.
11. Harris S., Moncrieff C., Johnson K. Myotonic dystrophy: will the real gene please step forward? Hum Mol Genet. 5:1996;1417-1423.
12. Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet. 16:1997;405-407.
13. Thornton C.A., Wymer J.P., Simmons Z., McClain C., Moxley R.T. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet. 16:1997;407-409.
14. Otten A.D., Tapscott S.J. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci. 92:1995;5465-5469.
15. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Laboratory Press, 1992.
16. Cheng S., Barcelo J.M., Korneluk R.G. Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR. Hum Mutat. 7:1996;304-310.
17. Healt S.K., Carne S., Hoyle C., Johnson K., Wells D.J. Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. Hum Molec Genet. 6:1997;651-657.
18. Kobatashi S., Roy D., Spector A. Sodium/potassium ATPase in normal and cataractous human lenses. Curr Eye Res. 5:1992;327-334.
19. Philips A.V., Timchenko L.T., Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science. 280:1998;737-741.
20. Morrone A., Pegoraro E., Angelini C., Zammarchi E., Marconi G., Hoffman E.P. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J Clin Invest. 99:1997;1691-1698.
21. Ishii S., Nishio T., Sunohara N.et al. Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy. Hum Genet. 98:1996;138-140.
22. Ashizawa T. Myotonic dystrophy as a brain disorder. Arch Neurol. 55:1998;291-293.