Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: The CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels

Human Molecular Genetics

Volumn 8, Issue 6, 1999, Pages 1053-1060

  Eriksson, Maria ^a   Ansved, Tor ^a   Edström, Lars ^a   Anvret, Maria ^a   Carey, Nessa ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; MESSENGER RNA; POLYADENYLIC ACID; PRIMER DNA; PROTEIN SERINE THREONINE KINASE;

ADOLESCENT; ADULT; ARTICLE; CELL CULTURE; CYTOPLASM; FEMALE; GENE EXPRESSION; GENE LOCUS; HUMAN; HUMAN TISSUE; HYPOTHESIS; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOTONIC DYSTROPHY; PHYSIOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; TRINUCLEOTIDE REPEAT;

ADULT; BIOPSY; CYTOSKELETAL PROTEINS; DATA INTERPRETATION, STATISTICAL; DNA, COMPLEMENTARY; DYSTROPHIN-ASSOCIATED PROTEINS; FEMALE; GENE EXPRESSION REGULATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0032971242     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.6.1053     Document Type: Article

References (26)

1. Fu, Y.-H., Pizzuti, A., Fenwick, R.G.Jr, King, J., Rajnarayan, S., Dunne, P.W., Dubel, J., Nasser, G.A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Perryman, M.B., Epstein, H.F. and Caskey, C.T. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science, 255, 1256-1258.
2. Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy, K., Leblond, S., Earle-Macdonald, J., de Jong, P.J., Wieringa, B. and Korneluk, R.G. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science, 255, 1253-1255.
3. Brook, J.D., McCurrach, M.E., Harley, H.G., Buckler, A.J., Church, D., Aburatani, H., Humter, K., Sranton, V.P., Thirion, J.-P., Hudson, T., Sohn, R., Zemelman, B., Snell, R.G., Rundle, S.A., Crow, S., Davies, J., Shelbourne, P., Buxton, J., Jones, C., Juvonen, V., Johnson, K., Harper, P.S., Shaw, D.J. and Housman, D.E. ( 1992) 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, 799-808.
4. Aslanidis, C., Jansen, G., Amemiya, C., Shutler, G., Mahadevan, M., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N.G.M., Vooijs, M., Buxton, J., Johnson, K., Smeets, H.J.M., Lennon, G.G., Carrano, A.V., Korneluk, R.G., Wieringa, B. and de Jong, P.J. (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature, 355, 548-551.
5. Buxton, J., Shelbourne, P., Davies, J., Jones, C., van Tongeren, T., Aslanidis, C., de Jong, P., Jansen, G., Anvret, M., Riley, B., Williamson, R. and Johnson, K. (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature, 355, 547-548.
6. Harley, H.G., Brook, J.D., Rundle, S.A., Crow, S., Reardon, W., Buckler, A.J., Harper, P.S., Housman, D.E. and Shaw, D.J. ( 1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature, 355, 545-546.
7. Brunner, H.G., Bruggenwirth, H.T., Nillesen, W., Jansen, G., Hamel, B.C.J., Hoppe, R.L.E., de Die, C.E.M., Howeler, C.J., van Oost, B.A., Wieringa, B., Ropers, H.H. and Smeets, H.J.M. (1993) Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am. J. Hum. Genet., 53, 1016-1023.
8. Jansen, G., Bachner, D., Coerwinkel, M., Wormskamp, N., Hameister, H. and Wieringa, B. (1995) Structural organization and developmental expression of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum. Mol. Genet., 4, 843-852.
9. n repeat. Hum. Mol. Genet., 4, 1919-1925.
10. n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc. Natl Acad. Sci. USA, 94, 13221-13226.
11. n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res., 24, 4407-4414.
12. Timchenko, L.T., Timchenko, N.A., Caskey, C.T. and Roberts, R. (1996) Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonc dystrophy. Hum. Mol. Genet., 5, 115-121.
13. Phillips, A.V., Timchenko, L.T. and Cooper, T.A. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741.
14. Krahe, R., Ashizawa, T., Abbruzzese, C., Roeder, E., Carango, P., Giacanelli, M., Funanage, V.L. and Siciliano, M.J. (1995) Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics, 28, 1-14.
15. Wang, J., Pegoraro, E., Menegazzo, E., Gennarelli, M., Hoop, R.C., Angelini, C. and Hoffman, E.P. (1995) Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum. Mol. Genet., 4, 599-606.
16. Fu, Y.-H., Friedman, D.L., Richards, S., Pearlman, J.A., Gibbs, R.A., Pizzuti, A., Ashizawa, T., Perryman, M.B., Scarlato, G., Fenwick, R.G.Jr and Caskey, C.T. (1993) Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science, 260, 235-238.
17. Hamshere, M.G., Newman, E.E., Alwazzan, M., Athwal, B.S. and Brook, J.D. (1997) Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighbouring genes. Proc. Natl Acad. Sci. USA, 94, 7394-7399.
18. Davis, B.M., McCurrach, M., Taneja, K.L., Singer, R.H. and Housman, D.E. (1997) Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc. Natl Acad. Sci. USA, 94, 7388-7393.
19. Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C. and Moxley, R.T. (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet., 16, 407-409.
20. Klesert, T.R., Otten, A.D., Bird, T.D. and Tapscott, S.J. (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genet., 16, 402-406.
21. Sabouri, L.A., Mahadevan, M.S., Narang, M., Lee, D.S.C., Surh, L.C. and Korneluk, R.G. (1993) Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet., 4, 233-238.
22. Laurent, A., Costa, J.M., Assouline, B., Voyer, M. and Vidaud, M. (1997) Myotonic dystrophy protein kinase gene expression in skeletal muscle from congenitally affected infants. Ann. Genet., 40, 169-174.
23. Murakami, Y., Ohio, H., Ikeda, U., Shimada, K., Momoi, T. and Kawakami, K. (1998) Promoter of mDMAHP/Six5: differential utilization of multiple transcription initiation sites and positive/negative regulatory elements. Hum. Mol. Genet., 7, 2103-2112.
24. Zatz, M., Passos-Bueno, M.R., Cerqueira, A., Marie, S.K., Vainzof, M. and Pavanello, R.C.M. (1995) Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum. Mol. Genet., 4, 401-406.
25. Thornton, C.A., Johnson, K. and Moxley, R.T. (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol., 35, 104-107.
26. Anvret, M., Ahlberg, G., Grandell, U., Hedberg, B., Johnson, K. and Edstrom, L. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2, 1397-1400.