A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

K. Ohshima; N. Sakamoto; M. Labuda; J. Poirier; M. L. Moseley; L. Montermini; L. P.W. Ranum; R. D. Wells; Massimo Pandolfo

doi:10.1212/wnl.53.8.1854

A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

K. Ohshima, N. Sakamoto, M. Labuda, J. Poirier, M. L. Moseley, L. Montermini, L. P.W. Ranum, R. D. Wells, Massimo Pandolfo

Genetics, Cell Biology and Development (TMED)

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

36 Scopus citations

Abstract

An individual with late-onset ataxia was found to be heterozygous for an unusual (GAAGGA)₆₅ sequence and a normal GAA repeat in the frataxin gene. No frataxin point mutation was present, excluding a form of Friedreich ataxia. (GAAGGA)₆₅ did not have the inhibitory effect on gene expression in transfected cells shown by pathogenic GAA repeats of similar length. GAA repeats, but not (GAAGGA)₆₅, adopt a triple helical conformation in vitro. We suggest that such a triplex structure is essential for suppression of gene expression.

Original language	English (US)
Pages (from-to)	1854-1857
Number of pages	4
Journal	Neurology
Volume	53
Issue number	8
DOIs	https://doi.org/10.1212/wnl.53.8.1854
State	Published - Nov 10 1999

Keywords

Friedreich ataxia
GAA triplet repeats
Hexanucleotide repeats
Transcription

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abstract = "An individual with late-onset ataxia was found to be heterozygous for an unusual (GAAGGA)65 sequence and a normal GAA repeat in the frataxin gene. No frataxin point mutation was present, excluding a form of Friedreich ataxia. (GAAGGA)65 did not have the inhibitory effect on gene expression in transfected cells shown by pathogenic GAA repeats of similar length. GAA repeats, but not (GAAGGA)65, adopt a triple helical conformation in vitro. We suggest that such a triplex structure is essential for suppression of gene expression.",

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T1 - A nonpathogenic GAAGGA repeat in the Friedreich gene

T2 - Implications for pathogenesis

AU - Ohshima, K.

AU - Sakamoto, N.

AU - Labuda, M.

AU - Poirier, J.

AU - Moseley, M. L.

AU - Montermini, L.

AU - Ranum, L. P.W.

AU - Wells, R. D.

AU - Pandolfo, Massimo

PY - 1999/11/10

Y1 - 1999/11/10

N2 - An individual with late-onset ataxia was found to be heterozygous for an unusual (GAAGGA)65 sequence and a normal GAA repeat in the frataxin gene. No frataxin point mutation was present, excluding a form of Friedreich ataxia. (GAAGGA)65 did not have the inhibitory effect on gene expression in transfected cells shown by pathogenic GAA repeats of similar length. GAA repeats, but not (GAAGGA)65, adopt a triple helical conformation in vitro. We suggest that such a triplex structure is essential for suppression of gene expression.

AB - An individual with late-onset ataxia was found to be heterozygous for an unusual (GAAGGA)65 sequence and a normal GAA repeat in the frataxin gene. No frataxin point mutation was present, excluding a form of Friedreich ataxia. (GAAGGA)65 did not have the inhibitory effect on gene expression in transfected cells shown by pathogenic GAA repeats of similar length. GAA repeats, but not (GAAGGA)65, adopt a triple helical conformation in vitro. We suggest that such a triplex structure is essential for suppression of gene expression.

KW - Friedreich ataxia

KW - GAA triplet repeats

KW - Hexanucleotide repeats

KW - Transcription

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A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

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