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Titolo:
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
Autore:
Seznec, H; Lia-Baldini, AS; Duros, C; Fouquet, C; Lacroix, C; Hofmann-Radvanyi, H; Junien, C; Gourdon, G;
Indirizzi:
Univ Paris 05, Hop Necker Enfants Malad, INSERM, UR383, Paris, France UnivParis 05 Paris France Enfants Malad, INSERM, UR383, Paris, France Baylor Coll Med, Dept Med, Div Cardiol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Div Cardiol, Houston, TX 77030 USA Hop Ambroise Pare, Biochim Lab, Boulogne, France Hop Ambroise Pare Boulogne France e Pare, Biochim Lab, Boulogne, France
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 8, volume: 9, anno: 2000,
pagine: 1185 - 1194
SICI:
0964-6906(20000501)9:8<1185:TMCLHG>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOTONIC-DYSTROPHY PATIENTS; CAG TRINUCLEOTIDE REPEAT; UNSTABLE TRIPLET REPEAT; HUNTINGTON-DISEASE; ESCHERICHIA-COLI; (CTG)(N) REPEAT; MISMATCH REPAIR; CPG ISLANDS; IN-VITRO; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
60
Recensione:
Indirizzi per estratti:
Indirizzo: Gourdon, G Univ Paris 05, Hop Necker Enfants Malad, INSERM, UR383, Paris, France Univ Paris 05 Paris France lad, INSERM, UR383, Paris, France
Citazione:
H. Seznec et al., "Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability", HUM MOL GEN, 9(8), 2000, pp. 1185-1194

Abstract

Myotonic dystrophy (DM) is caused by a CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene. A very high level of instability is observed through successive generations and the size of the repeat is generally correlated with the severity of the disease and with age at onset. Furthermore, tissues from DM patients exhibit somatic mosaicism that increases with age. We generated transgenic mice carrying large human genomic sequences with 20, 55 or >300 CTG, cloned from patients from the same affected DM family. Using large human flanking sequences and a large amplification, we demonstrate that the intergenerational CTG repeat instability is reproduced in mice, with a strong bias towards expansions and with the same sex- and size-dependent characteristics as in humans. Moreover, a high level of instability, increasing with age, can be observed in tissues and in sperm. Although we did not observe dramatic expansions (or 'big jumps' over several hundred CTG repeats) as in congenital forms of DM, our model carrying >300 CTGis the first to show instability so close to the human DM situation. Our three models carrying different sizes of CTG repeat provide insight on the different factors modulating the CTG repeat instability.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 14:48:13