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SRX3175639: GSM2779081: HL-E115-Wt-Mm-cHiC-4; Mus musculus; OTHER
1 ILLUMINA (Illumina HiSeq 4000) run: 122.8M spots, 12.5G bases, 4Gb downloads

Submitted by: NCBI (GEO)
Study: Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
show Abstracthide Abstract
The regulatory specificity of enhancers and their interaction with gene promoters is thought to be controlled by their sequence and the binding of transcription factors. By studying Pitx1, a regulator of hindlimb development, we show that dynamic changes in chromatin conformation can restrict the activity of enhancers. Inconsistent with its hindlimb-restricted expression, Pitx1 is controlled by an enhancer (Pen) that shows activity in forelimbs and hindlimbs. By Capture Hi-C and three-dimensional modeling of the locus, we demonstrate that forelimbs and hindlimbs have fundamentally different chromatin configurations, whereby Pen and Pitx1 interact in hindlimbs and are physically separated in forelimbs. Structural variants can convert the inactive into the active conformation, thereby inducing Pitx1 misexpression in forelimbs, causing partial arm-to-leg transformation in mice and humans. Thus, tissue-specific three-dimensional chromatin conformation can contribute to enhancer activity and specificity in vivo and its disturbance can result in gene misexpression and disease. Overall design: We used capture Hi-C enriching a 3Mb region at the Pitx1 locus in Mus musculus. We analysed four biological replicates of wild type and two biological replicates of CRISPR-Cas9 genome engineered structural variants and indel mutant tissues. Micro-dissected embryonic E11.5 forelimb and hindlimb tissues as well as E10.5 midbrain tissue were used as starting material. In total nine mouse mutants were used.
Sample: HL-E115-Wt-Mm-cHiC-4
SAMN07628892 • SRS2505503 • All experiments • All runs
Organism: Mus musculus
Library:
Instrument: Illumina HiSeq 4000
Strategy: OTHER
Source: GENOMIC
Selection: other
Layout: PAIRED
Construction protocol: 3C-libraries were prepared from homozygous E11.5 forelimb and hindlimb buds as described previously (Hagege et al. 2007). cHi-C experiments were performed as quadruplets (WT) or duplicates (mutants). Per biological replicate, 5-6 pairs of limb buds (ca. 3 ×106 cells) were micro dissected in PBS at room temperature (RT). A single cell suspension was obtained by incubating the tissue in 500 µl Trypsin-EDTA 0.05 % (Gibco) at 37°C for 10 minutes shaking at 900 RPM. The cells were resuspended and homogenised using a 0.40 µm cell strainer (Falcon) and diluted in 10% FCS/PBS. Cells were fixed by adding 650 µl 37% formaldehyde (Sigma-Aldrich) with a final concentration of 2% and mixed for 10 minutes at room temperature. Fixation was quenched using 1.425 M glycine (Merck) on ice and immediately centrifuged at 260 g for 8 minutes. Supernatant was removed, the pellet resuspended in lysis buffer (final concentration of 10 mM Tris pH 7.5, 10 mM NaCl, 5 mM MgCl2, 0.1 M EGTA, and 1x Complete protease inhibitors (Roche)) and incubated on ice for 10 minutes. Removal of lysis buffer was done by centrifugation at 400 g for 5 minutes at 4°C, followed by removal of supernatant, snap-freezing and storage at -80°C. On the next day, the pellet was resuspended in 520 µl 1x DpnII buffer (Thermo Fisher Scientific), and incubated with 7.4 µl 20% SDS shaking at 900 RPM at 37°C for 1 hour. Next, 75 µl 20% x-100 Triton was added and left shaking at 900 RPM at 37°C for 1 hour. A 15 µl aliquot was taken as a control for undigested chromatin (stored at -20°C). The chromatin was digested using 40 µl 10 U/µl DpnII (Thermo Fisher Scientific) shaking at 900 RPM at 37°C for 6 hours. 40 µl of DpnII was added and samples were incubated overnight shaking at 900 RPM at 37°C. On the third day, 20 µl DpnII was added to the samples shaking 5 more hours at 900 RPM at 37°C. DpnII restriction enzyme was inactivated at 65°C for 25 minutes. A 50 µl aliquot was taken to test digestion efficiency (stored at -20°C). Next, the digested chromatin was diluted and re-ligated in 5.1 ml H2O, 700 µl 10x ligation buffer (Fermentas), 5 µl 30 U/µl T4-ligase (Fermentas), incubated at 16°C for 4 hours and shake manually 3 times. The ligated samples were incubated further 30 minutes at RT. The chimeric chromatin products and test aliquots were de-crosslinked o.n. by adding 30 µl and 5 µl Proteinase K, respectively, and incubated at 65°C overnight. On the fourth day, 30 µl or 5 µl of 10 mg/ml RNase was added to the samples and aliquots, respectively, and incubated for 45 minutes at 37°C. Next, chromatin was precipitated by adding 1 volume phenol-chloroform to the samples and aliquots, vigorously shaking them, followed by centrifugation at 4000 RPM at RT for 15 minutes. The upper phase containing the chromatin was transferred to a new tube. To the aliquots, 100% ethanol was added and the samples were frozen for 30 minutes, centrifuged at 5000 RPM for 45 minutes at 4°C, washed with 70% ethanol and resuspended in 20 µl 10 mM Tris-HCl pH 7.5. To the samples, 7 ml H2O, 1 ml 3M NaAc pH 5.6 and 35 ml 100% ethanol was added. The samples were frozen at -20°C for 3 hours. The precipitated chromatin was isolated by centrifugation at 5000 RPM for 45 minutes at 4°C. The chromatin pellet was washed with 70% ethanol, and further centrifuged at 5000 RPM for 15 minutes at 4°C. Finally, the 3C-library chromatin pellet was dried at RT and resuspended in 10 mM Tris-HCl pH 7.5. To check the 3C-library, 600ng was loaded on a 1% gel together with the undigested and digested aliquots. The 3C-library was then sheared using a Covaris sonicator (duty cycle: 10%, intensity: 5, cycles per burst: 200, time: 6 cycles of 60 s each, set mode: frequency sweeping, temperature: 4 to 7 °C). Adaptors were added to the sheared DNA and amplified according to Agilent instructions for Illumina sequencing. The library was hybridized to the custom-designed sure-select beads and indexed for sequencing (50 to 100 bp paired-end) following Agilent instructions.
Experiment attributes:
GEO Accession: GSM2779081
Links:
Runs: 1 run, 122.8M spots, 12.5G bases, 4Gb
Run# of Spots# of BasesSizePublished
SRR6024964122,791,98712.5G4Gb2018-10-01

ID:
4477490

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