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Daniela Robles-Espinoza explains that melanoma is a deadly skin cancer that is very rare in the human population. So it was perplexing when she learned about a number of families with alarming incidences of melanoma. How did these individuals get this rare type of skin cancer so readily? Robles-Espinoza and colleagues sequenced DNA from these families to pinpoint the genetic origins of the familial cases of melanoma. In several families, she discovered mutations in the POT1 gene, which regulates the length of chromosome ends, or telomeres. They performed in vitro experiments that showed the POT1 mutations completely disrupted POT1 function. Furthermore, they observed longer telomeres in the individuals afflicted with melanoma, suggesting the mutations had an effect on the physiology of the individuals and were causing, at least in part, the high rates of skin cancer in these families.
Featured Research Article
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. (2014) POT1 loss-of-function variants predispose to familial melanoma. Nature Genetics. 46(5), 478-81.
Daniela Robles-Espinoza recently received her PhD from the University of Cambridge, in the UK, and is now a postdoctoral fellow at the Experimental Cancer Genetics group in the Wellcome Trust Sanger Institute. She uses bioinformatics and computational methods to study the genetic factors that influence cancer development, especially melanoma, in high-risk families. She's also interested in the development of computational tools that aid in visualization of high-throughput sequencing data. Robles-Espinoza is very passionate about science education and communication. In 2013, she won Best Talk Award at the International Congress of the Society for Melanoma Research (SMR). In her spare time, she enjoys writing in popular science blogs, oil painting, and bellydancing.
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