Describe the potential consequences for human health
of mutations in genes that specify DNA repair factors.
Mutation in a gene is a permanent change in the sequence of DNA molecule. These mutations serve as major cause of diversity among organisms. Gene mutations have several different effects on human health but it depends on where they occur and whether they alter the function of essential proteins or not.
Mutation occurring in genes that are involved in DNA repair will have an adverse effect on human health. Mutation happening in cells specifying proteins which participate in DNA repair will lead to life threatening diseases like cancer.
When a mutation has occurred in the gene which are involved in DNA repair mechanism or which affects the DNA repair factors will initially affect the function of enzymes which take part in the repair mechanism. Then the repair mechanism will get collapsed which will lead to the inefficient function of the gene which can eventually cause the specific consequences in the human health.
For example, the very well-known hereditary disease associated with the defective repair of DNA shows that how vital the DNA repair mechanisms are for survival. The cells of patient with Xeroderma pigmentosum is lacking the ability to perform nucleotide excision repair due to mutation in the XPC gene. This gene are responsible for the protein which recognises the DNA during the early stage of NER pathway.
The patient will mutated genes are homozygous for mutation in any one of the seven genes which are coding for enzymes which normally functions in this repair system. As a result of this, the thymine dimers caused by UV light will not get removed efficiently. Unless these people avoid any kind of exposure to sunlight, their skin cells begin to accumulate the mutations which will gradually lead to skin cancer.
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