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Titolo:
Instability of a (CGG)(98) repeat in the Fmr1 promoter
Autore:
Bontekoe, CJM; Bakker, CE; Nieuwenhuizen, IM; van der Linde, H; Lans, H; de Lange, D; Hirst, MC; Oostra, BA;
Indirizzi:
Erasmus Univ, CBG Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Open Univ, Dept Biol Sci, Milton Keynes MK7 6AA, Bucks, England Open UnivMilton Keynes Bucks England MK7 6AA nes MK7 6AA, Bucks, England
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 16, volume: 10, anno: 2001,
pagine: 1693 - 1699
SICI:
0964-6906(20010801)10:16<1693:IOA(RI>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; UNINTERRUPTED CGG REPEATS; TRINUCLEOTIDE REPEATS; HUNTINGTONS-DISEASE; TRIPLET REPEATS; TRANSGENIC MICE; CAG REPEAT; SECONDARY STRUCTURE; HAIRPIN STRUCTURES; FULL MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Oostra, BA Erasmus Univ, CBG Dept Clin Genet, POB 1738, NL-3000 DR Rotterdam, Netherlands Erasmus Univ POB 1738 Rotterdam Netherlands NL-3000 DR erlands
Citazione:
C.J.M. Bontekoe et al., "Instability of a (CGG)(98) repeat in the Fmr1 promoter", HUM MOL GEN, 10(16), 2001, pp. 1693-1699

Abstract

Fragile X syndrome is one of 14 trinucleotide repeat diseases. It arises due to expansion of a CGG repeat which is present in the 5 ' -untranslated region of the FMR1 gene, disruption of which leads to mental retardation. The mechanisms involved in trinucleotide repeat expansion are poorly understood and to date, transgenic mouse models containing transgenic expanded CGG repeats have failed to reproduce the instability seen in humans. As both cis-acting factors and the genomic context of the CGG repeat are thought to play a role in expansion, we have now generated a knock-in mouse Fmr1 gene in which the murine (CGG)(8) repeat has been exchanged with a human (CGG)(98) repeat. Unlike other CGG transgenic models, this model shows moderate CGGrepeat instability upon both in maternal and paternal transmission. This model will now enable us to study the timing and the mechanism of repeat expansion in mice.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 22:43:50