PXD080715

PXD080715 is an original dataset announced via ProteomeXchange.

Title	Label-free quantitative proteomics of colon tissue from a Hirschsprung's disease patient carrying a NOS1 frameshift mutation
Description	This study investigates the proteomic consequences of a frameshift mutation in the NOS1 (neuronal nitric oxide synthase) gene in the context of Hirschsprung's disease. Label-free quantitative (LFQ) mass spectrometry was performed on formalin-fixed paraffin-embedded (FFPE) colon tissue sections from one NOS1-mutant patient (3 technical replicates) and three control individuals. The study comprises two experimental arms: (1) total proteome profiling of all six samples, and (2) SDS-PAGE gel-band fractionation targeting proteins at ~55 kDa and ~160 kDa (migrating and narrow segments) for the three control samples. Raw data were acquired on a Thermo Fisher Orbitrap mass spectrometer and searched against the UniProt human reference proteome (UP000005640) using MaxQuant. A total of 2,193 proteins were quantified after QC filtering. Differential analysis (proDA, limma) identified 67 significantly altered proteins (adj.P<0.05, |log₂FC|>0.5; 25 upregulated, 42 downregulated) in the NOS1 mutant versus controls. NOS1 protein itself was not detected, consistent with mutation-induced protein instability or degradation. This dataset provides the first proteomic characterization of NOS1 loss-of-function in human colon tissue and complements parallel transcriptomic (RNA-seq, Iso-Seq) and immune profiling (flow cytometry) datasets from the same NOS1 mutation cohort.
HostingRepository	iProX
AnnounceDate	2026-07-08
AnnouncementXML	Submission_2026-07-08_01:44:20.077.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Qian Jiang
SpeciesList	scientific name: Homo sapiens; NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	LTQ Orbitrap

Revision	Datetime	Status	ChangeLog Entry
0	2026-07-08 01:41:34	ID requested
⏵ 1	2026-07-08 01:44:20	announced

Dataset with its publication pending

submitter keyword: NOS1, neuronal nitric oxide synthase, Hirschsprung disease, Hirschsprung-associated enterocolitis

Qian Jiang
contact affiliation	Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics
contact email	jiangq@mail.ccmu.edu.cn
lab head
Qian Jiang
contact affiliation	Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics
contact email	jiangq@mail.ccmu.edu.cn
dataset submitter

iProX dataset URI