| Autor: |
Baldinu, Paola, Cossu, Antonio, Manca, Antonella, Satta, Maria P., Sini, Maria C., Rozzo, Carla, Dessole, Salvatore, Cherchi, PierLuigi, Gianfrancesco, Fernando, Pintus, Adriana, Carboni, Annangela, Deiana, Angelo, Tanda, Francesco, Palmieri, Giuseppe |
| Zdroj: |
Human Mutation; Apr2004, Vol. 23 Issue 4, p318-326, 9p |
| Abstrakt: |
Allelic deletions, which are suggestive for the presence of tumor suppressor genes, represent a common event in endometrial cancer (EC). Previous loss-of-heterozygosity studies for human chromosome 10q identified a candidate deletion interval at 10q25-q26, which we further narrowed to a 160-kb region at 10q26, bounded by markers D10S1236 and WIAF3299. Using a positional candidate approach, we identified three alternative transcripts of a novel human gene, CASC2 (cancer susceptibility candidate 2; formely C10 orf5). One of such transcripts, CASC2a, encodes a short protein of 102 amino acids with no similarity to any other known gene product. Three (7%) CASC2a mutations were identified in tumor DNA from 44 EC patients. While c.−156G>T and c.22C>T (p.Pro8Ser) are sequence variants with unknown functional significance, c.84delA is a mutation with a truncation effect on the predicted protein (p. Asn28fsX50). Expression studies by real-time RT-PCR on several normal and tumor cells revealed that CASC2a mRNA is downregulated in cancer, suggesting that it may act as a potential tumor suppressor gene. The very low mutation rate seems to also indicate that inactivation of CASC2a might probably be due to mechanisms different from genetic alterations. Hum Mutat 23:318-326, 2004 © 2004 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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