Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders

被引：89
作者：
LaSalle, Janine M. [1 ,2 ]
Reiter, Lawrence T. [3 ,4 ]
Chamberlain, Stormy J. [5 ,6 ]
机构：
[1] Univ Calif Davis, Med Microbiol & Immunol Genome Ctr, Davis, CA 95616 USA
[2] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA
[3] Univ Tennessee, Ctr Hlth Sci, Dept Pediat, Memphis, TN 38163 USA
[4] Univ Tennessee, Ctr Hlth Sci, Dept Neurol, Memphis, TN 38163 USA
[5] Univ Connecticut, Dept Genet & Dev Biol, Farmington, CT 06030 USA
[6] Univ Connecticut, Stem Cell Inst, Farmington, CT 06030 USA
来源：
EPIGENOMICS | 2015年 / 7卷 / 07期
关键词：
Angelman syndrome; Dup15q syndrome; imprinting; neurodevelopment; proteosome; ubiquitin; AUTISM SPECTRUM DISORDERS; HUMAN-PAPILLOMAVIRUS E6; SYNDROME PROTEIN UBE3A; PRADER-WILLI-SYNDROME; ANGELMAN-SYNDROME; UBIQUITIN LIGASE; E6-ASSOCIATED PROTEIN; MOUSE MODEL; DEPENDENT DEGRADATION; DEVELOPMENTAL DELAY;
D O I：
10.2217/epi.15.70
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Epigenetic regulation of the UBE3A gene by parentally imprinted noncoding transcription within human chromosome 15q11.2-q13.3 is responsible for the maternal-specific effects of 15q11.2-q13.3 deletion or duplication disorders. Here, we review the evidence for diverse and emerging roles for UBE3A in the proteasome, synapse and nucleus in regulating protein stability and transcription as well as the current mechanistic understanding of UBE3A imprinting in neurons. Angelman and Dup15q syndromes as well as experimental models of these neurodevelopmental disorders are highlighted as improving understanding of UBE3A and its complex regulation for improving therapeutic strategies.
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收藏
页码：1213 / 1228
页数：16
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