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Title page for ETD etd-06012015-114009

Type of Document Dissertation
Author Grier, Mark Donald
URN etd-06012015-114009
Title Unraveling the Gene/Environment Knot in Neurodevelopmental Disease: Focus on Angelman Syndrome
Degree PhD
Department Interdisciplinary Studies: Developmental Neuropharmacology
Advisory Committee
Advisor Name Title
Joey Barnett Committee Chair
Andre Lagrange Committee Member
Gregg Stanwood Committee Member
Jeremy Veenstra-Vander-Weele Committee Member
Mark Wallace Committee Member
Robert Carson Committee Member
Roger Colbran Committee Member
  • Maternal Effects
  • Environmental Influences
  • Epigentics
Date of Defense 2015-03-31
Availability unrestricted
Angelman Syndrome (AS) is a devastating neurodevelopmental disorder characterized by developmental delay, speech impairment, movement disorder, sleep disorders and refractory epilepsy. AS is caused by loss of the Ube3a protein encoded for by the imprinted Ube3a gene. Ube3a is expressed nearly exclusively from the maternal chromosome in mature neurons. Mouse models have helped determine the molecular defects in AS, however findings have been inconsistent across laboratories. Work in our laboratory suggested that environmental factors may play a role in the phenotypes observed in AS model mice. As a result, we evaluated the possibility of non-genomic causes of variation in phenotypes observed in AS model mice. Here we demonstrate that maternal status and diet play a large role in the magnitude of a hypomyelination phenotype observed in these mice.
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