Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr; Ming yi Chung; Sandro Banfi; Thomas J. Kwiatkowski; Antonio Servadio; Arthur L. Beaudet; Alanna E. McCall; Lisa A. Duvick; Laura P.W. Ranum; Huda Y. Zoghbi

doi:10.1038/ng0793-221

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr, Ming yi Chung, Sandro Banfi, Thomas J. Kwiatkowski, Antonio Servadio, Arthur L. Beaudet, Alanna E. McCall, Lisa A. Duvick, Laura P.W. Ranum, Huda Y. Zoghbi^*

^*此作品的通信作者

生命科學系暨基因體科學研究所

研究成果: Article › 同行評審

1480 引文斯高帕斯（Scopus）

摘要

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)_n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.

原文	English
頁（從 - 到）	221-226
頁數	6
期刊	Nature Genetics
卷	4
發行號	3
DOIs	https://doi.org/10.1038/ng0793-221
出版狀態	Published - 7月 1993

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abstract = "Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.",

author = "Orr, {Harry T.} and Chung, {Ming yi} and Sandro Banfi and Kwiatkowski, {Thomas J.} and Antonio Servadio and Beaudet, {Arthur L.} and McCall, {Alanna E.} and Duvick, {Lisa A.} and Ranum, {Laura P.W.} and Zoghbi, {Huda Y.}",

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T1 - Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

AU - Orr, Harry T.

AU - Chung, Ming yi

AU - Banfi, Sandro

AU - Kwiatkowski, Thomas J.

AU - Servadio, Antonio

AU - Beaudet, Arthur L.

AU - McCall, Alanna E.

AU - Duvick, Lisa A.

AU - Ranum, Laura P.W.

AU - Zoghbi, Huda Y.

PY - 1993/7

Y1 - 1993/7

N2 - Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.

AB - Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.

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JO - Nature Genetics

JF - Nature Genetics

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

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