Show simple item record

Unraveling the Gene/Environment Knot in Neurodevelopmental Disease: Focus on Angelman Syndrome

dc.creatorGrier, Mark Donald
dc.description.abstractAngelman 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.
dc.subjectMaternal Effects
dc.subjectEnvironmental Influences
dc.titleUnraveling the Gene/Environment Knot in Neurodevelopmental Disease: Focus on Angelman Syndrome
dc.contributor.committeeMemberAndre Lagrange
dc.contributor.committeeMemberRobert Carson
dc.contributor.committeeMemberRoger Colbran
dc.contributor.committeeMemberMark Wallace
dc.contributor.committeeMemberGregg Stanwood
dc.contributor.committeeMemberJeremy Veenstra-Vander-Weele
dc.type.materialtext Studies: Developmental Neuropharmacology University
dc.contributor.committeeChairJoey Barnett

Files in this item


This item appears in the following Collection(s)

Show simple item record