xeroderma pigmentosum xpf
Download
Skip this Video
Download Presentation
Xeroderma Pigmentosum (XPF)

Loading in 2 Seconds...

play fullscreen
1 / 14

Xeroderma Pigmentosum (XPF) - PowerPoint PPT Presentation


  • 138 Views
  • Uploaded on

Xeroderma Pigmentosum (XPF). Cara Mitchell. Characteristics of XP. Extreme photosensitivity Early onset of skin cancers Blistering of skin from sun exposure Redness and inflammation of skin Discoloration, scarring, freckling Some neurological damage. Affected Individual.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about ' Xeroderma Pigmentosum (XPF)' - druce


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
characteristics of xp
Characteristics of XP
  • Extreme photosensitivity
  • Early onset of skin cancers
  • Blistering of skin from sun exposure
  • Redness and inflammation of skin
  • Discoloration, scarring, freckling
  • Some neurological damage
affected individual
Affected Individual
  • http://www.inrp.fr/Acces/biotic/gpe/dossiers/xeroderma/html/phenomacr.htm
cause of xp
Cause of XP
  • Mutation in one of the proteins involved in NER
  • Inability to repair UV damaged DNA
  • Buildup of mutations in skin cells
  • Increased incidence of skin cancers
what is ner
What is NER?
  • Nucleotide Excision Repair
  • Mechanism of DNA repair
  • Used in repairing UV damage

http://murray.francis.com/repair/3-UVcancer.htm

ner in the cell
NER in the cell

Damage Recognition

Binding of protein complex

5’

3’

Incision of DNA

Oligonucleotide excision

DNA repair synthesis

http://egp.gs.washington.edu/ner.html

complementation groups
Complementation Groups
  • 7 main proteins involved in NER
  • Mutations are generally recessive
  • Mutations in XPA-G are complementary
  • Different phenotypes possible
slide8
XP-F
  • Milder phenotype
  • Later onset of cancers
  • Usually no neurological damage
  • Lessened photosensitivity
xpf protein
XPF Protein
  • Functions with ERCC1 protein
  • XPF-ERCC1: endonuclease activity
  • Incises DNA 5’ to the damage
  • Mutations mostly in C-terminal half
  • This half associates w/ ERCC1 and has nuclease function
mouse knockouts xpf deficient
Mouse Knockouts (XPF Deficient)
  • Severely defective postnatal growth
  • Death at ~3 weeks
  • Abnormal cells (esp. in liver)
  • Embryonic fibroblasts hypersensitive to UV and MMC

Liver Cells

http://mcb.asm.org/cgi/content/full/24/3/1200

back to the big picture
Back to the Big Picture
  • XPF: endonuclease activity in NER
  • NER repairs UV damage to DNA
  • Dysfunctional NER

Buildup of mutations

Cancer

protein therapy
Protein Therapy
  • Now in clinical trials
  • Introduces desired protein into cells
  • Uses viral proteins
  • Goes on via skin lotion!
  • Does not help neurological problems
sources
Sources
  • Friedberg, Errol C. “How nucleotide excision repair protects against cancer”, Nature. Oct. 2001 vol. 1. Macmillan Magazines Ltd.
  • http://hmg.oupjournals.org/cgi/content/full/7/6/969
  • http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Xeroderma%20Pigmentosum
  • http://www.xps.org/
  • http://www.bio.unc.edu/courses/Biology99/examples/Kramer.ppt#1
  • http://www.cse.ucsc.edu/research/compbio/DNA-repair/euk-nucleotide-excision.html
  • http://mcb.asm.org/cgi/content/full/24/3/1200