Sticky DNA:: Self-association properties of long GAA•TTC repeats in R•R•Y triplex structures from Friedreich's ataxia

被引：256

作者：

Sakamoto, N

Chastain, PD

Parniewski, P

Ohshima, K

Pandolfo, M

Griffith, JD

Wells, RD ^{[1
]}

机构：

[1] Texas A&M Univ, Ctr Genome Res, Inst Biosci & Technol, Texas Med Ctr, Houston, TX 77030 USA

[2] Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA

[3] Univ Montreal, Ctr Hosp, Montreal, PQ H2L 4M1, Canada

来源：

MOLECULAR CELL | 1999年 / 3卷 / 04期

关键词：

D O I：

10.1016/S1097-2765(00)80474-8

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A novel DNA structure, sticky DNA, is described for lengths of (GAA.TTC)(n) found in intron 1 of the frataxin gene of Friedreich's ataxia patients. Sticky DNA is formed by the association of two purine.purine pyrimidine (R.R.Y) triplexes in negatively supercoiled plasmids at neutral pH. An excellent correlation was found between the lengths of (GAA.TTC) (>59 repeats): first, in FRDA patients, second, required to inhibit transcription in vivo and in vitro, and third, required to adopt the sticky conformation. Fourth, (GAAGGA.TCCTTC)(65), also found in intron 1, does not form sticky DNA, inhibit transcription, or associate with the disease. Hence, R.R.Y triplexes and/or sticky DNA may be involved in the etiology of FRDA.

引用

页码：465 / 475

页数：11

共 49 条

[1] The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure [J].

Bidichandani, SI ;

Ashizawa, T ;

Patel, PI .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) :111-121

[2]

Bidichandani SI, 1997, AM J HUM GENET, V60, P1251

[3] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].

Campuzano, V ;

Montermini, L ;

Molto, MD ;

Pianese, L ;

Cossee, M ;

Cavalcanti, F ;

Monros, E ;

Rodius, F ;

Duclos, F ;

Monticelli, A ;

Zara, F ;

Canizares, J ;

Koutnikova, H ;

Bidichandani, SI ;

Gellera, C ;

Brice, A ;

Trouillas, P ;

DeMichele, G ;

Filla, A ;

DeFrutos, R ;

Palau, F ;

Patel, PI ;

DiDonato, S ;

Mandel, JL ;

Cocozza, S ;

Koenig, M ;

Pandolfo, M .

SCIENCE, 1996, 271 (5254) :1423-1427

[4] Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes [J].

Campuzano, V ;

Montermini, L ;

Lutz, Y ;

Cova, L ;

Hindelang, C ;

Jiralerspong, S ;

Trottier, Y ;

Kish, SJ ;

Faucheux, B ;

Trouillas, P ;

Authier, FJ ;

Durr, A ;

Mandel, JL ;

Vescovi, A ;

Pandolfo, M ;

Koenig, M .

HUMAN MOLECULAR GENETICS, 1997, 6 (11) :1771-1780

[5] Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations [J].

Cossee, M ;

Schmitt, M ;

Campuzano, V ;

Reutenauer, L ;

Moutou, C ;

Mandel, JL ;

Koenig, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) :7452-7457

[6] Frataxin fracas [J].

Cossee, M ;

Campuzano, V ;

Koutnikova, H ;

Fischbeck, K ;

Mandel, JL ;

Koenig, M ;

Bidichandani, SI ;

Patel, PI ;

Molte, MD ;

Canizares, J ;

DeFrutos, R ;

Pianese, L ;

Cavalcanti, F ;

Monticelli, A ;

Cocozza, S ;

Montermini, L ;

Pandolfo, M .

NATURE GENETICS, 1997, 15 (04) :337-338

[7] Clinical and genetic abnormalities in patients with Friedreich's ataxia [J].

Durr, A ;

Cossee, M ;

Agid, Y ;

Campuzano, V ;

Mignard, C ;

Penet, C ;

Mandel, JL ;

Brice, A ;

Koenig, M .

NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (16) :1169-1175

[8] Differential stability of the (GAA)(n) tract in the Friedreich ataxia (STM7) gene [J].

Epplen, C ;

Epplen, JT ;

Frank, G ;

Miterski, B ;

Santos, EJM ;

Schols, L .

HUMAN GENETICS, 1997, 99 (06) :834-836

[9] Effect of third strand composition on triple helix formation: Purine versus pyrimidine oligodeoxynucleotides [J].

Faucon, B ;

Mergny, JL ;

Helene, C .

NUCLEIC ACIDS RESEARCH, 1996, 24 (16) :3181-3188

[10]

Filla A, 1996, AM J HUM GENET, V59, P554

← 1 2 3 4 5 →