<?xml version="1.0" encoding="UTF-8"?>
<STUDY_SET xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
  <STUDY center_name="GEO" alias="GSE111722" accession="SRP134973">
    <IDENTIFIERS>
      <PRIMARY_ID>SRP134973</PRIMARY_ID>
      <EXTERNAL_ID namespace="BioProject" label="primary">PRJNA437970</EXTERNAL_ID>
      <EXTERNAL_ID namespace="GEO">GSE111722</EXTERNAL_ID>
    </IDENTIFIERS>
    <DESCRIPTOR>
      <STUDY_TITLE>ChIP-seq for Smchd1 in male and female neural stem cells.</STUDY_TITLE>
      <STUDY_TYPE existing_study_type="Other"/>
      <STUDY_ABSTRACT>We sought to examine whether the non-canonical SMC protein Smchd1 plays a role in chromosome conformation. We used in situ Hi-C to analyse chromosome conformation changes upon deletion of the epigenetic regulator Smchd1 in female neural stem cells. In parallel, we analysed nucleosome accessibility using ATAC-seq, gene expression using RNA-seq,  chromatin marks H3K27me3 and H3K27ac and Ctcf binding using ChIP-seq. We additionally analysed Smchd1 binding genome-wide using ChIP-seq. Together, we find that deletion of Smchd1 alters chromosome conformation at Smchd1 target genes including the inactive X chromosome, Hox genes and imprinted loc. Smchd1 deletion results in gain in Ctcf binding and activation of enhancers. We propose Smchd1 functions by limiting Ctcf-mediated chromosome looping. Overall design: n=2 Smchd1 GFP/GFP vs n=2 Smchd1+/+ female neural stem cell lines +  Whole cell extract controls, to test binding of Smchd1 to the inactive X, using long sonication to release the inactive X heterochromatin. n=1 Smchd1GFP/GFP female + n=1 Smchd1 GFP/GFP male NSCs vs n=1 Smchd1+/+ female and n=1 Smchd1+/+ male neural stem cell lines plus whole cell extract controls, using MNase digestion for fragmentation, to assess autosomal binding of Smchd1.</STUDY_ABSTRACT>
      <CENTER_PROJECT_NAME>GSE111722</CENTER_PROJECT_NAME>
    </DESCRIPTOR>
    <STUDY_LINKS>
      <STUDY_LINK>
        <XREF_LINK>
          <DB>pubmed</DB>
          <ID>30127357</ID>
        </XREF_LINK>
      </STUDY_LINK>
    </STUDY_LINKS>
    <STUDY_ATTRIBUTES>
      <STUDY_ATTRIBUTE>
        <TAG>parent_bioproject</TAG>
        <VALUE>PRJNA437965</VALUE>
      </STUDY_ATTRIBUTE>
    </STUDY_ATTRIBUTES>
  </STUDY>
</STUDY_SET>
