Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus
| Autor: | Sharon Chiappa, Hyun K. Lee, Issei Tachibana, Robert B. Jenkins, Bryan McIver, Cory Allen, Corey Raffel, Justin S. Smith |
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| Rok vydání: | 1999 |
| Předmět: |
Tumor suppressor gene
DNA Mutational Analysis Molecular Sequence Data Vesicular Transport Proteins Loss of Heterozygosity Locus (genetics) Nerve Tissue Proteins Biology medicine.disease_cause Loss of heterozygosity Gene mapping GTP-Binding Proteins Genetics medicine Coding region Animals Humans Deletion mapping Genes Tumor Suppressor Amino Acid Sequence Cloning Molecular Cerebellar Neoplasms Gene Adaptor Proteins Signal Transducing Base Sequence Sequence Homology Amino Acid DNA Neoplasm Exons Sequence Analysis DNA Molecular biology Introns Rats rab GTP-Binding Proteins Carcinogenesis Chromosomes Human Pair 17 Medulloblastoma |
| Zdroj: | Genomics. 59(1) |
| ISSN: | 0888-7543 |
| Popis: | Allelic loss of 17p13.3 is observed in approximately 40% of medulloblastomas, suggesting the presence of a tumor suppressor gene in this region. Deletion mapping has defined a region of common loss flanking the telomeric marker D17S34, and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus in one such tumor. Using cDNA selection, we have identified a transcript spanning this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77% overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al (originally termed Noc2), a gene putatively involved in regulated endocrine exocytosis through its interactions with the cytoskeleton. We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens. No mutations were identified. Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer. |
| Databáze: | OpenAIRE |
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