POT1


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POT1

A gene on chromosome 7q31.33 that encodes a component of the telomerase ribonucleoprotein (RNP) complex which is essential for the replication of chromosome termini and part of the double-stranded telomeric DNA-binding TRF1 complex involved in regulating telomere length by cis-inhibition of telomerase. It also acts as a single-stranded telomeric DNA-binding protein, and thus may be a downstream effector of the TRF1 complex and transduce information about telomere maintenance and/or length to the telomere terminus.
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According to the research team, there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours and the mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma.
The scientists are currently working on developing cells and mice with an inactive POT1 gene, which will be used to test potential drug therapies that alter telomere metabolism.