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- W2022702409 abstract "IGF2 is a paternally expressed imprinted gene with an important role in development and brain function. Allele-specific expression of IGF2 is regulated by DNA methylation at three differentially methylated regions (DMRs) spanning the IGF2/H19 domain on human 11p15.5. We have comprehensively assessed DNA methylation and genotype across the three DMRs and the H19 promoter using tissue from a unique collection of well-characterized and neuropathologically-dissected post-mortem human cerebellum samples (n = 106) and frontal cortex samples (n = 51). We show that DNA methylation, particularly in the vicinity of a key CTCF-binding site (CTCF3) in the imprinting control region (ICR) upstream of H19, is strongly correlated with cerebellum weight. DNA methylation at CTCF3 uniquely explains ~25% of the variance in cerebellum weight. In addition, we report that genetic variation in this ICR is strongly associated with cerebellum weight in a parental-origin specific manner, with maternally-inherited alleles associated with a 16% increase in cerebellum weight compared with paternally-inherited alleles. Given the link between structural brain abnormalities and neuropsychiatric disease, an understanding of the epigenetic and parent-of-origin specific genetic factors associated with brain morphology provides important clues about the etiology of disorders such as schizophrenia and autism." @default.
- W2022702409 created "2016-06-24" @default.
- W2022702409 creator A5011302176 @default.
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- W2022702409 date "2012-02-01" @default.
- W2022702409 modified "2023-09-26" @default.
- W2022702409 title "Epigenetic and genetic variation at the<i>IGF2/H19</i>imprinting control region on 11p15.5 is associated with cerebellum weight" @default.
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- W2022702409 cites W1993206740 @default.
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- W2022702409 doi "https://doi.org/10.4161/epi.7.2.18910" @default.
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