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

收藏

页码：245 / 253

页数：9

相关论文

共 113 条

[91] FOCI OF TRINUCLEOTIDE REPEAT TRANSCRIPTS IN NUCLEI OF MYOTONIC-DYSTROPHY CELLS AND TISSUES [J].

TANEJA, KL ;

MCCURRACH, M ;

SCHALLING, M ;

HOUSMAN, D ;

SINGER, RH .

JOURNAL OF CELL BIOLOGY, 1995, 128 (06) :995-1002

[92] MYOTONIC-DYSTROPHY PATIENTS HAVE LARGER CTG EXPANSIONS IN SKELETAL-MUSCLE THAN IN LEUKOCYTES [J].

THORNTON, CA ;

JOHNSON, K ;

MOXLEY, RT .

ANNALS OF NEUROLOGY, 1994, 35 (01) :104-107

[93] Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene [J].

Thornton, CA ;

Wymer, JP ;

Simmons, Z ;

McClain, C ;

Moxley, RT .

NATURE GENETICS, 1997, 16 (04) :407-409

[94] Identification of a (CUG)(n) triplet repeat RNA-binding protein and its expression in myotonic dystrophy [J].

Timchenko, LT ;

Miller, JW ;

Timchenko, NA ;

DeVore, DR ;

Datar, KV ;

Lin, LJ ;

Roberts, R ;

Caskey, CT ;

Swanson, MS .

NUCLEIC ACIDS RESEARCH, 1996, 24 (22) :4407-4414

[95] Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy [J].

Timchenko, LT ;

Timchenko, NA ;

Caskey, CT ;

Roberts, R .

HUMAN MOLECULAR GENETICS, 1996, 5 (01) :115-121

[96] MYOTONIC-DYSTROPHY - EVIDENCE FOR A POSSIBLE DOMINANT-NEGATIVE RNA MUTATION [J].

WANG, JZ ;

PEGORARO, E ;

MENEGAZZO, E ;

GENNARELLI, M ;

HOOP, RC ;

ANGELINI, C ;

HOFFMAN, EP .

HUMAN MOLECULAR GENETICS, 1995, 4 (04) :599-606

[97] EXPANDED CTG TRIPLET BLOCKS FROM THE MYOTONIC-DYSTROPHY GENE CREATE THE STRONGEST KNOWN NATURAL NUCLEOSOME POSITIONING ELEMENTS [J].

WANG, YH ;

GRIFFITH, J .

GENOMICS, 1995, 25 (02) :570-573

[98] The [(G/C)(3)NN](n) motif: A common DNA repeat that excludes nucleosomes [J].

Wang, YH ;

Griffith, JD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (17) :8863-8867

[99] PREFERENTIAL NUCLEOSOME ASSEMBLY AT DNA TRIPLET REPEATS FROM THE MYOTONIC-DYSTROPHY GENE [J].

WANG, YH ;

AMIRHAERI, S ;

KANG, S ;

WELLS, RD ;

GRIFFITH, JD .

SCIENCE, 1994, 265 (5172) :669-671

[100] Long CCG triplet repeat blocks exclude nucleosomes: A possible mechanism for the nature of fragile sites in chromosomes [J].

Wang, YH ;

Gellibolian, R ;

Shimizu, M ;

Wells, RD ;

Griffith, J .

JOURNAL OF MOLECULAR BIOLOGY, 1996, 263 (04) :511-516

← 3 4 5 6 7 8 9 10 11 12 →