Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

作者：Mabb Angela M; Judson Matthew C; Zylka Mark J^*; Philpot Benjamin D

来源：Trends in Neurosciences, 2011, 34(6): 293-303.

DOI：10.1016/j.tins.2011.04.001

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. We highlight current AS model systems, epigenetic mechanisms of UBE3A regulation, and the identification of potential UBE3A substrates in the brain. In the process, we identify major gaps in our knowledge that, if bridged, could move us closer to identifying treatments for this debilitating neurodevelopmental disorder.

• 出版日期2011-6