An unstable triplet repeat in a gene related to myotonic muscular dystrophy

Y. H. Fu; A. Pizzuti; R. G. Fenwick; J. King; S. Rajnarayan; P. W. Dunne; J. Dubel; G. A. Nasser; T. Ashizawa; P. De Jong; B. Wieringa; R. Korneluk; M. B. Perryman; H. F. Epstein; C. Thomas Caskey

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

Y. H. Fu, A. Pizzuti, R. G. Fenwick, J. King, S. Rajnarayan, P. W. Dunne, J. Dubel, G. A. Nasser, T. Ashizawa, P. De Jong, B. Wieringa, R. Korneluk, M. B. Perryman, H. F. Epstein, C. Thomas Caskey

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1347 Scopus citations

Abstract

Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.

Original language	English (US)
Pages (from-to)	1256-1258
Number of pages	3
Journal	Science
Volume	255
Issue number	5049
State	Published - Mar 6 1992

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Cite this

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title = "An unstable triplet repeat in a gene related to myotonic muscular dystrophy",

abstract = "Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.",

author = "Fu, {Y. H.} and A. Pizzuti and Fenwick, {R. G.} and J. King and S. Rajnarayan and Dunne, {P. W.} and J. Dubel and Nasser, {G. A.} and T. Ashizawa and {De Jong}, P. and B. Wieringa and R. Korneluk and Perryman, {M. B.} and Epstein, {H. F.} and Caskey, {C. Thomas}",

year = "1992",

month = mar,

day = "6",

language = "English (US)",

volume = "255",

pages = "1256--1258",

journal = "Science",

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publisher = "American Association for the Advancement of Science",

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TY - JOUR

T1 - An unstable triplet repeat in a gene related to myotonic muscular dystrophy

AU - Fu, Y. H.

AU - Pizzuti, A.

AU - Fenwick, R. G.

AU - King, J.

AU - Rajnarayan, S.

AU - Dunne, P. W.

AU - Dubel, J.

AU - Nasser, G. A.

AU - Ashizawa, T.

AU - De Jong, P.

AU - Wieringa, B.

AU - Korneluk, R.

AU - Perryman, M. B.

AU - Epstein, H. F.

AU - Caskey, C. Thomas

PY - 1992/3/6

Y1 - 1992/3/6

N2 - Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.

AB - Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.

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JO - Science

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

Abstract

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