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SUMMARY:Disease\, development\, evolution and environment: insights from e
 yes - Professor Veronica van Heyningen\, FRS\, FRSE\, FMedSci\, Head of Me
 dical and Developmental Genetics Section\, MRC Human Genetics Unit\, Edinb
 urgh
DTSTART:20090210T161500Z
DTEND:20090210T170000Z
UID:TALK16913@talks.cam.ac.uk
CONTACT:Dr Madan Babu Mohan
DESCRIPTION:Starting from the identification of three genes\, PAX6\, SOX2 
 and OTX2\, implicated in human ocular malformations\, we have explored the
  many different ways in which these major developmental regulator genes pl
 ay their role in normal development and how the process goes wrong as a re
 sult of different mutations.  In addition to point mutations we also found
  chromosomal changes outside the transcribed gene which triggered our inte
 rest in long range cis-regulatory function. Exploring the mechanisms of sp
 atiotemporal expression and dosage control has alerted us to the role of t
 ranscription factor interactions and networks. Alterations in regulatory e
 lement function are clearly also implicated in evolutionary change and we 
 have studied these aspects through the use of different model systems. Ret
 urning to patient phenotypes we were struck by the high incidence of unila
 terality and also of non-Mendelian familial segregation patterns in anopht
 halmia and microphthalmia. Using zebrafish as the model system we have exp
 lored some of the mechanisms underlying phenotypic variation\, noting that
  the same processes thought to play a role in evolutionary capacitation ma
 y also be implicated in mediating gene-environment interaction and modulat
 ing disease outcome. 
LOCATION:Max Perutz Lecture Theatre\, MRC Laboratory of Molecular Biology\
 , Cambridge\, UK
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