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Pitt Team Uncovers Key Mechanism Behind Immortalization in Melanoma

A study finding that a combination of genetic variants underlie melanoma's ability sustain telomere maintenance and drive its growth is reported in Science this week. The finding, described by team led by University of Pittsburgh scientists, may help in the development of new treatments for cancer and other diseases. Overcoming replicative senescence is an essential step during oncogenesis, and telomere lengthening has been shown to be one way tumor cells increase their replicative capacity. TERT is a key to telomere synthesis and maintenance, and while promoter mutations in the gene are found in 75 percent of melanomas, they are not sufficient to maintain telomeres alone. Aiming to uncover new mechanisms of telomere maintenance in cancer cells, the researchers analyzed somatic mutations that occur in telomere-related genes. They find that mutations in a telomere binding protein called TPP1, which are often present in melanoma, synergize with TERT to lengthen telomeres melanoma. "The identification of new pathways that contribute to telomere lengthening and cellular immortalization may have important prognostic value and may also inform the development of possible treatments for patients with cancer and those with diseases of telomere shortening," the study's authors write. "Our findings also support the idea that multiple noncoding mutations can cooperate to enable cellular immortalization and highlight the importance of understanding the contribution of noncoding variants to the development of cancer."

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.