XPD Helicase (3CRV)
From Proteopedia
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Mutations in XPD Helicase are associated with three distinct diseases: Cockayne Syndrome (CS), Xeroderma Pigmentosum (XP), and trichothiodystrophy (TTD). The common symptom between these diseases is sensitivity to UV light because of defects in the repair system that fixes mutations caused by UV radiation. | Mutations in XPD Helicase are associated with three distinct diseases: Cockayne Syndrome (CS), Xeroderma Pigmentosum (XP), and trichothiodystrophy (TTD). The common symptom between these diseases is sensitivity to UV light because of defects in the repair system that fixes mutations caused by UV radiation. | ||
CS is characterized by short stature, signs of premature aging, failure to gain weight, impaired development of the nervous system, and photosensitivity. XP is characterized by extreme sensitivity to sunlight and a higher risk of skin cancer. TTD is characterized by sparse and brittle hair, pregnancy-induced high blood pressure, intellectual disabilities, a higher risk of recurrent respiratory infections, and photosensitivity. | CS is characterized by short stature, signs of premature aging, failure to gain weight, impaired development of the nervous system, and photosensitivity. XP is characterized by extreme sensitivity to sunlight and a higher risk of skin cancer. TTD is characterized by sparse and brittle hair, pregnancy-induced high blood pressure, intellectual disabilities, a higher risk of recurrent respiratory infections, and photosensitivity. | ||
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== Structural highlights == | == Structural highlights == | ||
Revision as of 18:37, 10 April 2016
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Function
XPD Helicase is essential in nucleotide excision repair (NER), which is a DNA repair mechanism that removes DNA damaged from ultraviolet light (UV). UV light produces bulky DNA adducts, more specifically, thymine dimers, which interfere with base pairing during DNA replication. The resulting gap from the removed DNA is replaced by DNA polymerase. XPD Helicase is also one of the nine subunits of transcription factor II Human (TFIIH). A part of TFIIH, XPD has the responsibility of enzymatically initiating transcription by melting the promoter region, which is an ATP-dependent process.
Disease
Mutations in XPD Helicase are associated with three distinct diseases: Cockayne Syndrome (CS), Xeroderma Pigmentosum (XP), and trichothiodystrophy (TTD). The common symptom between these diseases is sensitivity to UV light because of defects in the repair system that fixes mutations caused by UV radiation. CS is characterized by short stature, signs of premature aging, failure to gain weight, impaired development of the nervous system, and photosensitivity. XP is characterized by extreme sensitivity to sunlight and a higher risk of skin cancer. TTD is characterized by sparse and brittle hair, pregnancy-induced high blood pressure, intellectual disabilities, a higher risk of recurrent respiratory infections, and photosensitivity.
Structural highlights
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References
1. Fan, L., Fuss, J. O., Cheng, Q. J., Arvai, A. S., Hammel, M., Roberts, V. A., Cooper, P. K., and Tainer, J. A. (2008) XPD helicase structures and activities: Insights into the cancer and aging phenotypes from XPD mutations.
2. Cleaver, J. E., Lam, E. T., and Revet, I. (2009) Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity. Nat. Rev. Genet. 10, 756-768.
3.Nance, M. A., and Berry, S. A. (1992) Cockayne syndrome: Review of 140 cases. Am. J. Med. Genet. 42, 68-84.
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