Tuesday, September 16, 2014

POLH gene cause Xeroderma Pigmentosum (XP)...

POLH gene shows 30+ mutations in the variant type of Xeroderma Pigmentosum (XP-V), which is characterized by increased sensitivity to UV rays from sunlight like the other forms of XP. However, XP-V do not associated with neurological abnormalities such as delayed development and hearing loss.

Most of the mutations in POLH gene prevent the production of any detectable DNA polymerase eta. As we know without DNA polymerase eta cells could not effectively replicate damaged DNA. Without DNA replication for damaged DNA, errors resulting from exposure to UV rays accumulate in the genes which control cell growth and division. Due to this damage, cell growth become uncontrollably fast resulting an increased risk of developing skin cancer in the sunlight exposed areas in the XP-V affected individual. 

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