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CATEGORIES:mbm30's list
SUMMARY:Disease\, development\, evolution and environment:
  insights from eyes - Professor Veronica van Heyni
 ngen\, FRS\, FRSE\, FMedSci\, Head of Medical and 
 Developmental Genetics Section\, MRC Human Genetic
 s Unit\, Edinburgh
DTSTART;TZID=Europe/London:20090210T161500
DTEND;TZID=Europe/London:20090210T170000
UID:TALK16913AThttp://talks.cam.ac.uk
URL:http://talks.cam.ac.uk/talk/index/16913
DESCRIPTION:Starting from the identification of three genes\, 
 PAX6\, SOX2 and OTX2\, implicated in human ocular 
 malformations\, we have explored the many differen
 t ways in which these major developmental regulato
 r genes play their role in normal development and 
 how the process goes wrong as a result of differen
 t mutations.  In addition to point mutations we al
 so found chromosomal changes outside the transcrib
 ed gene which triggered our interest in long range
  cis-regulatory function. Exploring the mechanisms
  of spatiotemporal expression and dosage control h
 as alerted us to the role of transcription factor 
 interactions and networks. Alterations in regulato
 ry element function are clearly also implicated in
  evolutionary change and we have studied these asp
 ects through the use of different model systems. R
 eturning to patient phenotypes we were struck by t
 he high incidence of unilaterality and also of non
 -Mendelian familial segregation patterns in anopht
 halmia and microphthalmia. Using zebrafish as the 
 model system we have explored some of the mechanis
 ms underlying phenotypic variation\, noting that t
 he same processes thought to play a role in evolut
 ionary capacitation may also be implicated in medi
 ating gene-environment interaction and modulating 
 disease outcome. 
LOCATION:Max Perutz Lecture Theatre\, MRC Laboratory of Mol
 ecular Biology\, Cambridge\, UK
CONTACT:Dr Madan Babu Mohan
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