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SRX12188863: GSM5578194: O1_LacZ_4M_S5; Homo sapiens; RNA-Seq
2 ILLUMINA (Illumina NovaSeq 6000) runs: 217.5M spots, 27.6G bases, 8.2Gb downloads

Submitted by: NCBI (GEO)
Study: Structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
show Abstracthide Abstract
The human forebrain has expanded in size and complexitycompared to that of chimpanzeedespite limited changesinprotein-coding genes, suggesting that gene regulation is an importantdriver of brain evolution. Here we identify a KRAB-ZFPtranscription factor, ZNF558, that isexpressed in human but not chimpanzee forebrain neural progenitor cells. ZNF558 evolved asa suppressor of LINE-1 transposons but has been co-opted to regulate the mitophagy geneSPATA18, supporting a link between mitochondrial homeostasis andcorticalexpansion. Theunusual on-off switchforZNF558expression resides in a downstream variable number tandemrepeat (VNTR) that is contracted in humans relative to chimpanzee.Our data reveal the brain-specific co-option of a transposon-controllingKRAB-ZFPand how a human-specificregulatory network is established by acis-acting structural genome variation. Thisrepresentsapreviouslyundescribedgenetic mechanisminthe evolution of the human brain. Overall design: In order to silence the transcription of ZNF558 we used the catalytically inactive Cas9 (deadCas9) fused to the transcriptional repressor KRAB. Single guide sequences were designed to recognize DNA regions just down-stream of the transcription start site (TSS) according to the GPP Portal (Broad Institute). The guides were inserted into a deadCas9-KRAB-T2A-GFP lentiviral backbone containing both the guide RNA under the U6 promoter and dead-Cas9-KRAB and GFP under the Ubiquitin C promoter (pLV hU6-sgRNA hUbC-dCas9-KRAB-T2a-GFP, a gift from Charles Gersbach, Addgene plasmid #71237 RRID:Addgene_71237). The guides were inserted into the backbone using annealed oligos and the BsmBI cloning site. Lentiviruses were produced as described below yielding titers between 4.9E+08 and 9.3E+09. Control virus with a gRNA sequence not present in the human genome (LacZ) was also produced and used in all experiments. All lentiviral vectors were used with an MOI between 5 and 20. (GSM5525367-GSM5525378) H6 and H48 are different cell lines. They are HS1 and HS2 (mentioned in the paper), respectively. bulk and single-cell RNA-seq and CUT&RUN
Sample: O1_LacZ_4M_S5
SAMN21435959 • SRS10166743 • All experiments • All runs
Organism: Homo sapiens
Library:
Instrument: Illumina NovaSeq 6000
Strategy: RNA-Seq
Source: TRANSCRIPTOMIC
Selection: cDNA
Layout: PAIRED
Construction protocol: Organoids (LacZ, g2 and g3) were collected for single nuclei sequencing at 2 and 4 months. At harvest, organoids were dissected out of the Matrigel, frozen on dry ice and stored at -80°C. In order to reduce bias in the downstream analysis due to organoid heterogeneity, they were frozen 5 by 5 per time point and batch. The nuclei isolation protocol has been described in detail elsewhere (Sodersten et al., 2018). In brief, the organoids were thawed and homogenized in cold lysis buffer (0.32 M sucrose, 5 mM CaCl2, 3 mM MgAc, 0.1 mM Na2EDTA, 10 mM Tris-HCl, pH 8.0, 1 mM DTT) using a tissue douncer (Wheaton). The homogenate was carefully layered on top of a sucrose solution (1.8 M sucrose, 3 mM MgAc, 10 mM Tris-HCl, pH 8.0, and 1 mM DTT) before centrifugation at 30,000 × g for 2 hours and 15 min. Pelleted nuclei were softened for 10 min in 100 ml of nuclear storage buffer (15% sucrose, 10 mM Tris-HCl, pH 7.2, 70 mM KCl, and 2 mM MgCl2) before resuspended in 400 ml of dilution buffer (10 mM Tris-HCl, pH 7.2, 70 mM KCl, and 2 mM MgCl2) and run through a cell strainer (70 mm). Cells were run through the FACS (FACS Aria, BD Biosciences) at 4°C with low flowrate using a 100 mm nozzle (reanalysis showed >99% purity), sorting 8,500 nuclei per sample which were then loaded onto 10X Genomics Single Cell 3' Chip along with the reverse transcription mastermix following the manufacturer's protocol for the Chromium Single Cell 3′ Library (10X Genomics, PN-120233) to generate single-cell gel beads in emulsion. cDNA amplification was done as per the guidelines from 10x Genomics and sequencing libraries were generated with unique sample indices (SI) for each sample. Libraries for samples were multiplexed and sequenced on a Novaseq using a 150-cycle kit using the recommended read length. Chromium Single Cell 3′ (10x) single nuclei RNA-seq
Experiment attributes:
GEO Accession: GSM5578194
Links:
Runs: 2 runs, 217.5M spots, 27.6G bases, 8.2Gb
Run# of Spots# of BasesSizePublished
SRR15898211107,525,81713.7G4.1Gb2021-09-21
SRR15898212109,931,59814G4.1Gb2021-09-21

ID:
16108636

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