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SUMMARY:Understanding copy number variation in human antimicrobial defensi
 n genes - Professor John Armour\, University of Nottingham
DTSTART:20111012T113000Z
DTEND:20111012T123000Z
UID:TALK32551@talks.cam.ac.uk
CONTACT:Sue Griffin
DESCRIPTION:Antimicrobial peptides of the defensin class are found in many
  organisms\, and most defensins in humans and other mammals belong to the 
 alpha and beta subgroups. Alpha-defensins are major components of neutroph
 il granules\, and in addition to antimicrobial activity are chemotactic fo
 r monocytes and T-cells. Beta-defensins are expressed in epithelia and dis
 play a wide variety of functions\, including antimicrobial and chemotactic
  activity\, as well as roles in pigmentation and the reproductive tract. \
 n\nMy own interest in defensins arises from the spectacular variation in t
 he copy number of their genes: for example\, at the beta-defensin gene clu
 ster on chromosome 8\, individuals with two copies are quite uncommon\, an
 d most individuals have between 3 and 6 copies per diploid genome. This va
 riation\, and even more diverse copy number variation in some alpha-defens
 in genes\, is technically challenging to measure accurately\, and begs a s
 imple question that remains largely unresolved – does variation in gene 
 copy number lead to variation in immune function?\n\nI will focus my discu
 ssion on the difficulties of gene copy number measurement (and our solutio
 ns to those difficulties)\, established work on case-control association s
 tudies\, and work we have initiated on more direct analysis of the relatio
 nship between gene copy number and alpha-defensin function.\n
LOCATION:Lecture Theatre\, Department of Pathology\, Tennis Court Road
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