PXD045880

PXD045880 is an original dataset announced via ProteomeXchange.

Title	Spontaneous nonsense mutation in Tuft1 (tuftelin 1) gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat
Description	A new spontaneous mutation, abnormal hair appearance in the rat, has been identified as a non-functional Tuft1 (tuftelin 1) gene. The pleiotropic effects of this mutation regulate glucose and lipid metabolism. Analysis of the liver proteome revealed possible molecular mechanisms for the metabolic effects of the Tuft1 gene. Recently, we identified a recessive mutation, an abnormal coat appearance, in BXH6 strain, a member of the HXB/BXH set of recombinant inbred strains derived from the SHR (spontaneously hypertensive rat) and BN-Lx (Brown Norway rat) progenitors. Whole genome sequencing of the mutant rats identified the 195875980 G/A mutation in the Tuft1 (tuftelin 1) gene on chromosome 2, which resulted in a premature stop codon. Compared to wild-type BXH6 rats, BXH6-Tuft1 mutant rats exhibited lower body weight due to reduced visceral fat and ectopic fat accumulation in the liver and heart. Reduced adiposity was associated with decreased serum glucose and insulin, and increased insulin-stimulated glycogenesis in skeletal muscle. In addition, mutant rats had lower serum MCP-1 and leptin levels, indicative of reduced inflammation. Analysis of the liver proteome identified differentially expressed proteins from fatty acid metabolism and beta oxidation, peroxisomes, carbohydrate metabolism, inflammation, and proteasome pathways. These results provide evidence for an important role of Tuft1 gene in the regulation of lipid and glucose metabolism and suggest underlying molecular mechanisms.
HostingRepository	PRIDE
AnnounceDate	2024-03-12
AnnouncementXML	Submission_2024-03-12_06:09:24.129.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Marek Vrbacky
SpeciesList	scientific name: Rattus norvegicus (Rat); NCBI TaxID: 10116;
ModificationList	methylthiolated residue
Instrument	Orbitrap Exploris 480

Revision	Datetime	Status	ChangeLog Entry
0	2023-10-03 10:02:15	ID requested
⏵ 1	2024-03-12 06:09:25	announced

10.1152/physiolgenomics.00084.2023;

Š, ilhav, ý J, Mlejnek P, Š, im, á, kov, á M, Li, š, ka F, Mal, í, nsk, á H, Markov, á I, H, ü, ttl M, Mikl, á, nkov, á D, Mu, š, á, lkov, á D, Str, á, neck, ý V, Kmoch S, Sticov, á E, Vrback, ý M, Mr, á, č, ek T, Pravenec M, Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat. Physiol Genomics, 56(1):65-73(2024) [pubmed]

submitter keyword: hepatic proteome

lipid and glucose metabolism

rat

spontaneous nonsense mutation

Tuft1 (tuftelin 1) gene

Michal Pravenec
contact affiliation	Institute of Physiology of the Czech Academy of Sciences, Laboratory of Genetics of Model Diseases
contact email	michal.pravenec@fgu.cas.cz
lab head
Marek Vrbacky
contact affiliation	Czech Academy of Sciences
contact email	proteom.krc@gmail.com
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD045880
     1. Label: PRIDE project
     2. Name: Spontaneous nonsense mutation in Tuft1 (tuftelin 1) gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat