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SUMMARY:New insights into the role of the chromatin associated factor ATRX
  - Doug Higgs\, MRC Molecular Haematology Unit\, Oxford
DTSTART:20120917T103000Z
DTEND:20120917T120000Z
UID:TALK39472@talks.cam.ac.uk
CONTACT:Scientific Meetings Co-ordinator
DESCRIPTION:ATRX is an X-linked gene of the SWI/SNF family\, mutations in 
 which cause syndromal mental retardation and downregulation of alpha-globi
 n expression.  We have shown that ATRX binds to tandem repeat (TR) sequenc
 es in both telomeres and pericentromeric chromosomal regions where ATRX ma
 y be targeted by recognizing specific chromatin modifications.  Within euc
 hromatin ATRX is also associated with TRs associated with a subset of gene
 s\, some of which are dysregulated when ATRX is mutated and the change in 
 expression is determined by the size of the TR\, producing skewed allelic 
 expression.  This reveals the characteristics of the affected genes\, expl
 ains the variable phenotypes seen with identical ATRX mutations\, and illu
 strates a new mechanism underlying variable penetrance in human genetic di
 sease. Many of the TRs are G rich and predicted to form non-B DNA structur
 es (including G-quadruplex) in vivo.  We have shown that ATRX binds G-quad
 ruplex structures in vitro\, suggesting a mechanism by which ATRX may play
  a role in various nuclear processes including telomere biology and how th
 is is perturbed when ATRX is mutated.
LOCATION:Max Perutz Lecture Theatre\, Medical Research Council (MRC) (MRC 
 Laboratory of Molecular Biol
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