← BioTransfer GEO Dataset Finder
GEO series

RNA seq in IPSCs derived dopaminergic neurons comparison of SNORD116MD versus control

GSE249891 Homo sapiens (human) RNA-seq (gene expression) 12 samples Submitted 2024/05/07 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: 12 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
Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndromeMolecular psychiatry · 2024
Summary (written by the submitters)
Introduction: A microdeletion including the SNORD116 gene (SNORD116 MD) has been shown to drive the Prader-Willi syndrome (PWS) phenotype. PWS is a neurodevelopmental disorder resulting from hypothalamic dysfunction implicating oxytocin (OXT) circuits. It is clinically characterized by early severe obesity, endocrine impairment, intellectual disability and psychiatric symptoms such as a lack of emotional regulation, impulsivity, and intense temper tantrums with outbursts.
Read the full summary ↓
In addition, this syndrome is associated with a nutritional trajectory characterized by addiction-like behavior around food in adulthood. PWS is related to the genetic loss of expression of a minimal region of chromosome 15 encompassing the SNORD116 gene, encoding for a long noncoding RNA that plays a potential role in epigenetic regulation. Nevertheless, the role of the SNORD116 MD in DNA methylation, as well as the impact of OXT on it, have never been investigated in human neurons. Methods: We studied the methylation marks in dopaminergic neurons issued from induced pluripotent stem neuronsscells (iPSC) carrying a SNORD116 MD in comparison with those from an age-matched adult healthy control. We also performed identical neurons differentiation in the presence of OXT. We performed a genome-wide DNA methylation analysis from iPSC-derived dopaminergic neurons by reduced-representation bisulfite sequencing. In addition, we performed RNA sequencing analysis in the iPSC-derived dopaminergic neurons differentiated with or without OXT. Results: The analysis revealed that among the differentially methylated genes, we determined a list of gene also differentially expressed. Enrichment analysis of this list encompassed dopaminergic system with COMT and SLC6A3.RT-qPCR attested significant over expression of SLC6A3 in SNORD116 MD neuronss. Moreover, the expression of this gene was significantly decreased in case of OXT adjunction during the differentiation. . Conclusion: SNORD116 MD dopaminergic neurons display differential methylation and expression in genes related to dopaminergic clearance .
Published in
Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome
Salles J, Eddiry S, Amri S et al. · Molecular psychiatry 2024 · PMID 38561465 · doi:10.1038/s41380-024-02542-4
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 GSE249891_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 PRJNA1051086 and SRA study SRP477363. Searching any of these in the dataset finder brings you back here.

Study design
12 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 12 sample titles: 12 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
Datasets on a similar topic

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.