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SRX25057796: GSM8352122: input1 NNK; Saccharomyces cerevisiae; OTHER
1 ILLUMINA (NextSeq 2000) run: 9.7M spots, 2.9G bases, 1.3Gb downloads

External Id: GSM8352122_r1
Submitted by: IBEC
Study: Amyloids “at the border”: deep mutagenesis and random sequence extension reveal an incomplete amyloid-forming motif in Bri2 that turns amyloidogenic upon C-terminal extension
show Abstracthide Abstract
Stop-loss mutations cause over twenty different diseases. The effects of stop-loss mutations can have multiple consequences that are, however, hard to predict. Stop-loss in ITM2B/BRI2 results in C-terminal extension of the encoded protein and, upon furin cleavage, in the production of two 34 amino acid long peptides, ADan and ABri, that accumulate as amyloids in the brains of patients affected by familial Danish and British Dementia. To systematically explore the consequences of Bri2 C-terminal extension, here, we measure amyloid formation for 676 ADan substitutions and identify the region that forms the putative amyloid core of ADan fibrils, located between positions 20 and 26, where stop-loss occurs. Moreover, we measure amyloid formation for ~18,000 random C-terminal extensions of Bri2 and find that ~32% of these sequences can nucleate amyloids. We find that the amino acid composition of these nucleating sequences varies with peptide length and that short extensions of 2 specific amino acids (Aliphatics, Aromatics and Cysteines) are sufficient to generate novel amyloid cores. Overall, our results show that the C-terminus of Bri2 contains an incomplete amyloid motif that can turn amyloidogenic upon extension. C-terminal extension with de novo formation of amyloid motifs may thus be a widespread pathogenic mechanism resulting from stop-loss, highlighting the importance of determining the impact of these mutations for other sequences across the genome. Overall design: Systematic measurement of the nucleation of Bri2 random extension of 12 amino acids (NNK degenerate codons). Three independent experiments performed. Illumina sequencing of 1 input sample and 3 output samples (after selection for amyloid nucleation) per experiment.
Sample: input1 NNK
SAMN42045128 • SRS21754762 • All experiments • All runs
Library:
Name: GSM8352122
Instrument: NextSeq 2000
Strategy: OTHER
Source: GENOMIC
Selection: other
Layout: PAIRED
Construction protocol: Input and output pellets were thawed and resuspended in 1.5 ml extraction buffer (2% Triton-X, 1% SDS, 100 mM NaCl, 10 mM Tris pH 8, 1 mM EDTA pH 8), and underwent two cycles of freezing and thawing in an ethanol-dry ice bath (10 min) and at 62˚C (10 min). Samples were then vortexed together with 1.5 ml of phenol:chloroform:isoamyl 25:24:1 and 1.5 g of glass beads (Sigma). The aqueous phase was recovered by centrifugation and mixed again with 1.5 ml phenol:chloroform:isoamyl 25:24:1. DNA precipitation was performed by adding 1:10 V of 3M NaOAc and 2.2 V of 100% cold ethanol to the aqueous phase and incubating the samples at -20°C for 1 hr. After a centrifugation step, pellets were dried overnight at RT. Pellets were resuspended in 900ul resuspension buffer (10 mM Tris pH 8, 1 mM EDTA pH 8) and treated with 7.5 ml RNase A (Thermo Scientific) for 30 min at 37˚C. The DNA was finally purified using 30ul of silica beads (QIAEX II Gel Extraction Kit, Qiagen), washed and eluted in 30 ul of elution buffer. Plasmid concentrations were measured by quantitative PCR with SYBR green (Merck) and primers annealing to the origin of replication site of the PCUP1-Sup35N plasmid at 58 °C for 40 cycles. The library for high-throughput sequencing was prepared in a two-step PCR (Q5 high-fidelity DNA polymerase, NEB). In PCR1, 300 million of molecules were amplified for 15 cycles at 68ºC with frame-shifted primers with homology to Illumina sequencing primers (Supplementary Data Primers). The products were purified with ExoSAP treatment (Affymetrix) and by column purification (MinElute PCR Purification Kit, Qiagen). They were then amplified for 12 cycles in PCR2 with Illumina-indexed primers. Libraries of random sequences were synthesized by Integrated DNA Technologies (IDT) as ultramers of 12 NNK codons (36 nucleotides). Sequences were flanked by constant regions of 25 nt upstream and 21 nt downstream for cloning. The NNK ultramers were extended in a 1-cycle PCR (Q5 high-fidelity DNA polymerase, NEB). The resulting products were treated with 2ul/tube of ExoSAP (ExoSAP-IT, Applied Biosystems) for 30 minutes at 37 °C and 20 minutes at 80 °C and purified through a MinElute column (Qiagen). In parallel, the PCUP1-Sup35N plasmid was linearized by PCR (Q5 high-fidelity DNA polymerase, NEB). The products were purified from a 1% agarose gel (QIAquick Gel Extraction Kit, Qiagen) and ligated by Gibson with 3 h of incubation at 50°C (Supplementary Data Table 3 Gibson) followed by dialysis for 3 h on a membrane filter (MF-Millipore 0.025 μm membrane, Merck) and vacuum concentration. The resulting libraries were transformed into 10-beta Electrocompetent E. coli (NEB), by electroporation with 2.0 kV, 200 Ω, 25 μF (BioRad GenePulser machine). Cells were recovered in SOC medium for 30 min and grown overnight in 50 ml of LB ampicillin medium. A small amount of cells was also plated in LB ampicillin plates to assess transformation efficiency. Total transformants were estimated, 50 ml of overnight culture were harvested to purify each library with a midi prep (Plasmid MIDI Kit, Qiagen).
Runs: 1 run, 9.7M spots, 2.9G bases, 1.3Gb
Run# of Spots# of BasesSizePublished
SRR295505749,668,0422.9G1.3Gb2024-08-02

ID:
33395093

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