Xeroderma Pigmentosum Research Paper

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Xeroderma Pigmentosum Jacob Kelty Grand Canyon University: BIO 457 February 15th 2015 Introduction The human genome is a very complicated and complex system. Because it is so complicated it makes the system very susceptible to damages and changes. These changes can come from the external environment such as being exposed to toxic chemicals or intrinsic factors such as inheritance of genes (Sehgal & Singh, 2014). In normal cases there are proteins in the body that can repair this damage, so the nucleotide will find the damage cut it out and insert a new strip of DNA. This system is called nucleotide excision repair and it is one of many systems that helps repair genes in the body. When it comes to Xeroderma Pigmentosum (XP) this is not the case, the nucleotide excision repair is not working in this disease, causing this persons DNA to stay damaged and has a phenotype with an OMIM number of 278700 (McKusik, 1986) . This disease is not only brutal to ones DNA but because their body cannot repair the DNA when exposed to UV light for even a minute it can have drastic affects. This disease was really described by two dermatologists from Vienna. They described the disease as xeroderma, which means parchment skin and then later added on the word pigmetnosum…show more content…
Transcription coupled nucleotide repair is an amazing property of NER because it can be coupled to transcription, and repair genes during that process. This so unusual because we do not know exactly what is finding the lesion in the DNA at this point. There is no system for it during the transcription process so it is believed to be that the RNA polymerase II is the main sensor for the lesions (Nouspikel, 2008). This is not something that is for sure though, and according to Nouspikel it was close to 20 years ago that they discovered that NER was able to couple to

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