By Dennis Swiercinsky, Ph.D.
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The three DMRs are shown as grey ﬁlled rectangles and the two candidate ICRs are shown as black ﬁlled rectangles. The two candidate ICRs are germline maternally methylated regions that are associated with the start of noncoding RNAs whereas the other DMR at Nesp is established after fertilisation. The black lines show the position of the deleted regions, designated NAS-DMR and Ex1A-DMR. The ﬁgure is not to scale. 41 The Nespas and Gnasxl promoters are embedded in the second germline differentially methylated CpG island.
Synergism of xist RNA, DNA methylation and histone hypoacetylation in maintaining X chromosome inactivation. J Cell Biol 2001; 153:773-84. Chapter 2 Control of Imprinting at the Gnas Cluster Jo Peters* and Christine M. Williamson Abstract G enomic imprinting is a form of epigenetic regulation in mammals whereby a small subset of genes is silenced according to parental origin. Early work had indicated regions of the genome that were likely to contain imprinted genes. Distal mouse chromosome 2 is one such region and is associated with devastating but ostensibly opposite phenotypes when exclusively maternally or paternally derived.
However, most of these patients develop, at some point of their lives, hypocalcemia with associated clinical manifestations, such as muscle spasms or seizures and require treatment with oral calcium supplements and 1,25 dihydroxyvitamin D preparations. 13,14 Thus far, only few cases of PHP-II have been reported and the nature of the molecular defect responsible for this PHP variant remains elusive. On the other hand, PHP-I is relatively common and various molecular defects underlying this form of PHP have been identified.
Brain Map Main by Dennis Swiercinsky, Ph.D.