Fragile-X syndrome and myotonic dystrophy:: parallels and paradoxes

被引：16

作者：

Tapscott, SJ ^{[1
]}

Klesert, TR ^{[1
]}

Widrow, RJ ^{[1
]}

Stöger, R ^{[1
]}

Laird, CD ^{[1
]}

机构：

[1] Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 1998年 / 8卷 / 02期

关键词：

D O I：

10.1016/S0959-437X(98)80148-2

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Fragile-X syndrome and myotonic dystrophy are caused by triplet repeat expansions embedded in CpG islands in the transcribed non-coding regions of the FMR1 and the DMPK genes, respectively. Although initial reports emphasized differences in the mechanisms by which the expanded triplet repeats caused these diseases, results published in the past year highlight remarkable parallels in the likely molecular etiologies. At bath loci, expansion is associated with altered chromatin, aberrant methylation, and suppressed expression of the adjacent FMR1 and DMAHP genes, implicating epigenetic mediation of these genetic diseases. (C) Current Biology Ltd ISSN 0959-437X.

引用

页码：245 / 253

页数：9

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