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

G. Jansen; M. Mahadevan; C. Amemiya; N. Wormskamp; B. Segers; W. Hendriks; K. O'hoy; S. Baird; L. Sabourin; G. Lennon; P. L. Jap; D. Iles; M. Coerwinkel; M. Hofker; A. V. Carrano; P. J. de Jong; R. G. Korneluk; B. Wieringa

doi:10.1038/ng0792-261

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

G. Jansen, M. Mahadevan, C. Amemiya, N. Wormskamp, B. Segers, W. Hendriks, K. O'hoy, S. Baird, L. Sabourin, G. Lennon, P. L. Jap, D. Iles, M. Coerwinkel, M. Hofker, A. V. Carrano, P. J. de Jong, R. G. Korneluk, B. Wieringa^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	English
Pages (from-to)	261-266
Number of pages	6
Journal	Nature Genetics
Volume	1
Issue number	4
DOIs	https://doi.org/10.1038/ng0792-261
Publication status	Published - 1 Jul 1992
Externally published	Yes

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Jansen, G., Mahadevan, M., Amemiya, C., Wormskamp, N., Segers, B., Hendriks, W., O'hoy, K., Baird, S., Sabourin, L., Lennon, G., Jap, P. L., Iles, D., Coerwinkel, M., Hofker, M., Carrano, A. V., de Jong, P. J., Korneluk, R. G., & Wieringa, B. (1992). Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs. Nature Genetics, 1(4), 261-266. https://doi.org/10.1038/ng0792-261

@article{79f89e5493c04f7db91ab17da21ee869,

title = "Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs",

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.",

author = "G. Jansen and M. Mahadevan and C. Amemiya and N. Wormskamp and B. Segers and W. Hendriks and K. O'hoy and S. Baird and L. Sabourin and G. Lennon and Jap, {P. L.} and D. Iles and M. Coerwinkel and M. Hofker and Carrano, {A. V.} and {de Jong}, {P. J.} and Korneluk, {R. G.} and B. Wieringa",

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Jansen, G, Mahadevan, M, Amemiya, C, Wormskamp, N, Segers, B, Hendriks, W, O'hoy, K, Baird, S, Sabourin, L, Lennon, G, Jap, PL, Iles, D, Coerwinkel, M, Hofker, M, Carrano, AV, de Jong, PJ, Korneluk, RG & Wieringa, B 1992, 'Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs', Nature Genetics, vol. 1, no. 4, pp. 261-266. https://doi.org/10.1038/ng0792-261

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T1 - Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs

AU - Jansen, G.

AU - Mahadevan, M.

AU - Amemiya, C.

AU - Wormskamp, N.

AU - Segers, B.

AU - Hendriks, W.

AU - O'hoy, K.

AU - Baird, S.

AU - Sabourin, L.

AU - Lennon, G.

AU - Jap, P. L.

AU - Iles, D.

AU - Coerwinkel, M.

AU - Hofker, M.

AU - Carrano, A. V.

AU - de Jong, P. J.

AU - Korneluk, R. G.

AU - Wieringa, B.

PY - 1992/7/1

Y1 - 1992/7/1

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AB - 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.

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

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