TTC4, a novel candidate tumor suppressor gene at 1p31 is often mutated in malignant melanoma of the skin
| Autor: | John K. Cowell, Christian Woenckhaus, Thomas Dittberner, Micaela Poetsch |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Cancer Research
Skin Neoplasms Tumor suppressor gene DNA Mutational Analysis Molecular Sequence Data Biology Polymerase Chain Reaction law.invention Exon law Tumor Cells Cultured Genetics medicine Humans Point Mutation Genes Tumor Suppressor Amino Acid Sequence Melanoma Molecular Biology Gene Polymerase chain reaction Paraffin Embedding Base Sequence Tumor Suppressor Proteins Point mutation Proteins Chromosome DNA Neoplasm medicine.disease Candidate Tumor Suppressor Gene Chromosomes Human Pair 1 Cancer research |
| Zdroj: | Oncogene. 19:5817-5820 |
| ISSN: | 1476-5594 0950-9232 |
| DOI: | 10.1038/sj.onc.1203961 |
| Popis: | A novel candidate tumor suppressor gene, TTC4, on chromosome 1p31 has been described recently. Since aberrations in this region have been detected in malignant melanoma, we investigated DNA of paraffin-embedded sections from 16 typical naevi, 19 atypical naevi, 32 primary melanomas (15 superficial spreading melanomas, 17 nodular melanomas) and 25 metastases and DNA from four melanoma cell lines by PCR and direct sequencing analysis for mutations in all exons of TTC4. Tumors comprised a wide range of thickness (Breslow index) and Clark levels. No mutations could be detected in typical or atypical naevi, but we found seven different point mutations in the tumor samples, six of them causing an amino acid change. Ten melanoma samples belonging to nine patients showed one or more of these mutations. In detail, in six of 25 metastases, in two of 17 nodular melanomas and in two of 15 superficial spreading melanomas point mutations could be detected. In two cell lines, a loss of a whole exon could be demonstrated and in one cell line we found a point mutation. In addition, three polymorphisms were found. Our findings indicate that TTC4 may participate in the pathogenesis of malignant melanomas of the skin. |
| Databáze: | OpenAIRE |
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