Common mutations in a gene regulator may drive melanoma growth
In short: Researchers examining human melanoma found that specific mutations in the regulatory region of the TERT gene occur in 71% of the samples studied. These mutations create new binding sites for transcription factors, which appears to increase the activity of the gene responsible for the catalytic subunit of telomerase.
By sequencing the genomes of 70 melanomas and testing 150 diverse cancer cell lines, the study observed that these mutations significantly boost promoter activity in reporter assays. This suggests that mutations in non-coding, regulatory regions can act as important mechanisms for tumor development, though the study's focus on specific cell types may not represent all cancers.
Why it matters: Mutations in gene regulatory regions, not just protein-coding regions, can play a significant role in cancer.
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Sources
- Summary by Intellect · source: Research: Huang et al. (2013). Highly Recurrent TERT Promoter Mutations in Human Melanoma. Science.
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