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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