An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

被引：463

作者：

Koob, MD

Moseley, ML

Schut, LJ

Benzow, KA

Bird, TD

Day, JW

Ranum, LPW

机构：

[1] Univ Minnesota, Dept Neurol & Genet, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Dept Cell Biol & Dev, Minneapolis, MN 55455 USA

[3] Dept Vet Affairs Med Ctr, Seattle, WA 98108 USA

[4] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA

来源：

NATURE GENETICS | 1999年 / 21卷 / 04期

关键词：

D O I：

10.1038/7710

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTC expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.

引用

页码：379 / 384

页数：6

共 30 条

[1] Unstable mutations and neurodegenerative disorders
Brice, A
[J]. JOURNAL OF NEUROLOGY, 1998, 245 (08) : 505 - 510
[2] Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
Cancel, G
Durr, A
Didierjean, O
Imbert, G
Burk, K
Lezin, A
Belal, S
Benomar, A
AbadaBendib, M
Vial, C
Guimaraes, J
Chneiweiss, H
Stevanin, G
Yvert, G
Abbas, N
Saudou, F
Lebre, AS
Yahyaoui, M
Hentati, F
Vernant, JC
Klockgether, T
Mandel, JL
Agid, Y
Brice, A
[J]. HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 709 - 715
[3] EVIDENCE FOR A MECHANISM PREDISPOSING TO INTERGENERATIONAL CAG REPEAT INSTABILITY IN SPINOCEREBELLAR ATAXIA TYPE-I
CHUNG, MY
RANUM, LPW
DUVICK, LA
SERVADIO, A
ZOGHBI, HY
ORR, HT
[J]. NATURE GENETICS, 1993, 5 (03) : 254 - 258
[4] Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
David, G
Dürr, A
Stevanin, G
Cancel, G
Abbas, N
Benomar, A
Belal, S
Lebre, AS
Abada-Bendib, M
Grid, D
Holmberg, M
Yahyaoui, M
Hentati, F
Chkili, T
Agid, Y
Brice, A
[J]. HUMAN MOLECULAR GENETICS, 1998, 7 (02) : 165 - 170
[5] Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
Davis, BM
McCurrach, ME
Taneja, KL
Singer, RH
Housman, DE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) : 7388 - 7393
[6] Groenen P, 1998, BIOESSAYS, V20, P901, DOI 10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO
[7] 2-0
[8] THE CLINICAL-FEATURES AND CLASSIFICATION OF THE LATE ONSET AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS - A STUDY OF 11 FAMILIES, INCLUDING DESCENDANTS OF THE DREW FAMILY OF WALWORTH
HARDING, AE
[J]. BRAIN, 1982, 105 (MAR) : 1 - 28
[9] HOFFMANRADVANYI H, 1993, HUM MOL GENET, V2, P1263
[10] Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
Jansen, G
Groenen, PJTA
Bachner, D
Jap, PHK
Coerwinkel, M
Oerlemans, F
vandenBroek, W
Gohlsch, B
Pette, D
Plomp, JJ
Molenaar, PC
Nederhoff, MGJ
vanEchteld, CJA
Dekker, M
Berns, A
Hameister, H
Wieringa, B
[J]. NATURE GENETICS, 1996, 13 (03) : 316 - 324

← 1 2 3 →