GEO series

Variation at the R181 residue of p53 confer loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis

GSE303326 Homo sapiens (human) RNA-seq (gene expression) 54 samples Submitted 2025/08/27 Platform GPL24676

At a glance

RNA-seq (gene expression) · human · 54 samples

What it is: RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism: Homo sapiens (human)
Samples: 54 samples: 54 samples, each with a distinct title — no replicated groupsGroups are read from the sample names, not from the paper. Check the list below.
Data you can get: A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper: Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosisbioRxiv : the preprint server for biology · 2025

Summary (written by the submitters)

The p53 tumor suppressor binds DNA cooperatively as a tetramer, mediated by salt-bridge interactions between p53 residues E180 and R181. Variants at the R181 residue are one of the most commonly identified TP53 pathogenic variants by germline genetic testing. We show that families with TP53 p.R181H and p.R181C variants show an attenuated cancer risk phenotype compared to patients with classic Li Fraumeni Syndrome due to hotspot loss of function variants.

Read the full summary ↓

Despite this phenotype, we find that p53 R181H and R181C variants have reduced ability to bind to p53 promotor target sequences and transactivate p53 target genes. We further show that p53 R181H and R181C retain wild-type p53 structure and tetramerization. In addition, R181-mutant cells undergo apoptosis through wild-type p53 activity at the mitochondria. These results indicate that retention of transcription-independent p53 tumor suppressor function may result in a reduced penetrance cancer risk syndrome in humans.

Published in

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis

Moses R, Indeglia A, Levine AS et al. · bioRxiv : the preprint server for biology 2025 · PMID 40832306 · doi:10.1101/2025.08.12.669925

This dataset

Open GSE303326 in finder → Find more human RNA-seq datasets →

Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE303326_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1294837 and SRA study SRP602829. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40832306) ↗

Study design

54 samples, each with a distinct title — no replicated groups

Any grouping that defines a comparison lives in the sample characteristics, which GEO records separately from the titles.

How we read this: Read from 54 sample titles: 54 distinct titles with little repetition. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

GSM9123500 HCT116 TP53 +/- Nutlin 0hr a
GSM9123501 HCT116 TP53 +/- Nutlin 0hr b
GSM9123502 HCT116 TP53 +/- Nutlin 0hr c
GSM9123503 HCT116 TP53 +/- Nutlin 8hr a
GSM9123504 HCT116 TP53 +/- Nutlin 8hr b
GSM9123505 HCT116 TP53 +/- Nutlin 8hr c
GSM9123506 HCT116 TP53 +/- Nutlin 24hr a
GSM9123507 HCT116 TP53 +/- Nutlin 24hr b
GSM9123508 HCT116 TP53 +/- Nutlin 24hr c
GSM9123509 HCT116 TP53 R181H/- Nutlin 0hr a
GSM9123510 HCT116 TP53 R181H/- Nutlin 0hr b
GSM9123511 HCT116 TP53 R181H/- Nutlin 0hr c
GSM9123512 HCT116 TP53 R181H/- Nutlin 8hr a
GSM9123513 HCT116 TP53 R181H/- Nutlin 8hr b
GSM9123514 HCT116 TP53 R181H/- Nutlin 8hr c
GSM9123515 HCT116 TP53 R181H/- Nutlin 24hr a
GSM9123516 HCT116 TP53 R181H/- Nutlin 24hr b
GSM9123517 HCT116 TP53 R181H/- Nutlin 24hr c
GSM9123518 HCT116 TP53 R181C/- Nutlin 0hr a
GSM9123519 HCT116 TP53 R181C/- Nutlin 0hr b
GSM9123520 HCT116 TP53 R181C/- Nutlin 0hr c
GSM9123521 HCT116 TP53 R181C/- Nutlin 8hr a
GSM9123522 HCT116 TP53 R181C/- Nutlin 8hr b
GSM9123523 HCT116 TP53 R181C/- Nutlin 8hr c
GSM9123524 HCT116 TP53 R181C/- Nutlin 24hr a
GSM9123525 HCT116 TP53 R181C/- Nutlin 24hr b
GSM9123526 HCT116 TP53 R181C/- Nutlin 24hr c
GSM9123527 MCF7 TP53 +/- Nutlin 0hr a
GSM9123528 MCF7 TP53 +/- Nutlin 0hr b
GSM9123529 MCF7 TP53 +/- Nutlin 0hr c
GSM9123530 MCF7 TP53 +/- Nutlin 8hr a
GSM9123531 MCF7 TP53 +/- Nutlin 8hr b
GSM9123532 MCF7 TP53 +/- Nutlin 8hr c
GSM9123533 MCF7 TP53 +/- Nutlin 24hr a
GSM9123534 MCF7 TP53 +/- Nutlin 24hr b
GSM9123535 MCF7 TP53 +/- Nutlin 24hr c
GSM9123536 MCF7 TP53 R181H/- Nutlin 0hr a
GSM9123537 MCF7 TP53 R181H/- Nutlin 0hr b
GSM9123538 MCF7 TP53 R181H/- Nutlin 0hr c
GSM9123539 MCF7 TP53 R181H/- Nutlin 8hr a

+ 14 more — browse all 54 samples with per-sample file links →

Datasets on a similar topic

GSE230036 ARID1A Mutations Promote Immune Evasion of Follicular Lymphoma Through Reduced FAS-Mediated Apoptosis by Hindering RUNX3-ETS1 Cooperativity. 30 samples shares cooperativity, apoptosis
GSE326416 Inherent Specificity and Variation Sensitivity as Quantitative Metrics for RBP Binding 24 samples shares variation, binding
GSE19480 Understaning mechanisms underlying human gene expression variation with RNA sequencing 161 samples shares variation
GSE260643 BMAL1–HIF2A heterodimer modulates circadian variations of myocardial injury 155 samples shares variation
GSE208732 Mapping functional to morphological variation reveals the basis of regional extracellular matrix subversion and nerve invasion in pancreatic cancer [RNA-seq] 102 samples shares variation
GSE328854 Ancestry-Specific Structural Variation at 17q21.31 Reveals a Novel H1 Sub-Haplotype and Functional Effects on Tau Biology 102 samples shares variation
GSE164055 Mapping origins of variation in neural trajectories of human pluripotent stem cells 101 samples shares variation
GSE324430 Promoter mutagenesis and a massively parallel reporter screen of the MAPT locus identifies cis-regulatory elements and genetic variation effects [RNA-seq] 88 samples shares variation

Search all human RNA-seq datasets in GEO →

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.