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Effect of depletion of PNPLA1 in gene expression during keratinocyte differentiation on reconstructed human epidermis

GSE272321 Homo sapiens (human) RNA-seq (gene expression) 12 samples Submitted 2025/12/04 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 12 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
12 samples: 3 × RHE WT vs 3 × RHE KO PNPLA1 A5 vs 3 × RHE KO PNPLA1 C1 vs 3 × RHE KO PNPLA1 E11Groups 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
A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disordersJID innovations : skin science from molecules to population health · 2026
Summary (written by the submitters)
Congenital ichthyoses are rare and disabling genodermatoses caused by mutations in genes involved in the epidermal barrier. More than 60 genes are known to be involved. However, 5-10% of the genetic variants identified in those genes are rarely or not described and their pathogenicity not yet demonstrated. They are therefore classified as Variants of Uncertain Significance (VUS) that leave number of patients undiagnosed, precluding prognosis, counselling and treatment.
Read the full summary ↓
We report here, an experimental strategy to reclassify VUS identified in congenital ichthyosis-causing genes tested for PNPLA1 variants. PNPLA is a transacylase essential for the skin barrier formation. It catalyzes the biosynthesis of acylceramides (AcylCer) in the stratum granulosum by esterification of ω-hydroxy ceramides with linoleic acid. We successfully characterized three PNPLA1 VUS identified in three patients with congenital ichthyosis, opening the possibility to extend the approach to other ichthyosis-causing genes.
Published in
A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders
Pell N, Bernard P, Courrech S et al. · JID innovations : skin science from molecules to population health 2026 · PMID 41624255 · doi:10.1016/j.xjidi.2025.100442
This dataset
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.

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 GSE272321_RAW.tar (it can run to tens of gigabytes).

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.

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 PRJNA1136442 and SRA study SRP520137. Searching any of these in the dataset finder brings you back here.

Study design
3 × RHE WT vs 3 × RHE KO PNPLA1 A5 vs 3 × RHE KO PNPLA1 C1 vs 3 × RHE KO PNPLA1 E11

Supports a between-group comparison across 12 samples.

How we read this: 4 replicated groups read from 12 sample titles; they account for 12 of them. 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
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