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Titolo:
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome
Autore:
Celebi, JT; Wanner, M; Ping, XL; Zhang, H; Peacocke, M;
Indirizzi:
Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg New York NY USA 10032 w York, NY 10032 USA
Titolo Testata:
HUMAN GENETICS
fascicolo: 3, volume: 107, anno: 2000,
pagine: 234 - 238
SICI:
0340-6717(200009)107:3<234:AOSDIP>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
BANNAYAN-ZONANA-SYNDROME; LHERMITTE-DUCLOS DISEASE; RILEY-RUVALCABA-SYNDROME; GERMLINE MUTATIONS; MULTIPLE HAMARTOMA; GENE; SPECTRUM; BREAST; CANCER; IDENTIFICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Celebi, JT Columbia Univ Coll Phys & Surg, Dept Dermatol, 630 W 168th St,VC-1526, NewYork, NY 10032 USA Columbia Univ Coll Phys & Surg 630 W 168th St,VC-1526 New York NY USA 10032
Citazione:
J.T. Celebi et al., "Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome", HUM GENET, 107(3), 2000, pp. 234-238

Abstract

Cowden syndrome (CS) and Bannayan Zonana syndrome (BZS) are two autosomal dominantly inherited conditions characterized by hamartomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with phenotypic findings of both CS and BZS. These mutations are found throughout the entire gene, with exon 5 being the most common site, and include point mutations, insertions and deletions. To date, 11 point mutations at the splice junctions of the PTEN gene have been reported, however, data on the alterations in the transcripts have been lacking. In this study, we have identified three novel splice site mutations in PTEN, in two families with CS and in one individual with BZS. One mutation affected the splice-acceptor site, which resulted in out-of-frame skipping of an entire exon. By contrast, the other mio mutations affected the splice-donor sites, and both showed inclusion of partial intronic sequences in the transcript due to activation of cryptic splice sites. These data demonstrate mRNA alterations as a consequence of splice site mutations in the PTEN gene.

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Documento generato il 19/09/20 alle ore 14:39:53