Next Article in Journal
Genetic and Epigenetic Regulation of Zebrafish Intestinal Development
Next Article in Special Issue
An Orphan CpG Island Drives Expression of a let-7 miRNA Precursor with an Important Role in Mouse Development
Previous Article in Journal
The Cytoplasm Affects the Epigenome in Drosophila melanogaster
Article Menu
Issue 4 (December) cover image

Export Article

Open AccessReview
Epigenomes 2018, 2(4), 18; https://doi.org/10.3390/epigenomes2040018

The Role of the Prader-Willi Syndrome Critical Interval for Epigenetic Regulation, Transcription and Phenotype

Medical Research Council (MRC) Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK
*
Author to whom correspondence should be addressed.
Received: 30 July 2018 / Revised: 10 October 2018 / Accepted: 12 October 2018 / Published: 18 October 2018
Full-Text   |   PDF [1064 KB, uploaded 18 October 2018]   |  

Abstract

Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by loss of expression of the paternally inherited genes on chromosome 15q11.2-q13. However, the core features of PWS have been attributed to a critical interval (PWS-cr) within the 15q11.2-q13 imprinted gene cluster, containing the small nucleolar RNA (snoRNA) SNORD116 and non-coding RNA IPW (Imprinted in Prader-Willi) exons. SNORD116 affects the transcription profile of hundreds of genes, possibly via DNA methylation or post-transcriptional modification, although the exact mechanism is not completely clear. IPW on the other hand has been shown to specifically modulate histone methylation of a separate imprinted locus, the DLK1-DIO3 cluster, which itself is associated with several neurodevelopmental disorders with similarities to PWS. Here we review what is currently known of the molecular targets of SNORD116 and IPW and begin to disentangle their roles in contributing to the Prader-Willi Syndrome phenotype. View Full-Text
Keywords: Prader-Willi Syndrome (PWS); epigenetic; transcription; imprinted genes Prader-Willi Syndrome (PWS); epigenetic; transcription; imprinted genes
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
SciFeed

Share & Cite This Article

MDPI and ACS Style

Zahova, S.; Isles, A.R. The Role of the Prader-Willi Syndrome Critical Interval for Epigenetic Regulation, Transcription and Phenotype. Epigenomes 2018, 2, 18.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Epigenomes EISSN 2075-4655 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top