Počet záznamů: 1
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat
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SYSNO ASEP 0583232 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat Tvůrce(i) Šilhavý, Jan (FGU-C) RID, ORCID
Mlejnek, Petr (FGU-C) RID, ORCID
Šimáková, Miroslava (FGU-C) RID, ORCID
Liška, František (FGU-C) ORCID, RID
Malínská, H. (CZ)
Marková, I. (CZ)
Hüttl, M. (CZ)
Miklánková, D. (CZ)
Mušálková, D. (CZ)
Stránecký, V. (CZ)
Kmoch, S. (CZ)
Sticová, E. (CZ)
Vrbacký, Marek (FGU-C) RID, ORCID
Mráček, Tomáš (FGU-C) RID, ORCID
Pravenec, Michal (FGU-C) RID, ORCIDZdroj.dok. Physiological Genomics. - : American Physiological Society - ISSN 1094-8341
Roč. 56, č. 1 (2024), s. 65-73Poč.str. 9 s. Jazyk dok. eng - angličtina Země vyd. US - Spojené státy americké Klíč. slova hepatic proteome ; lipid and glucose metabolism ; rat ; spontaneous nonsense mutation ; tuftelin 1 gene ; Tuft1 Obor OECD Cardiac and Cardiovascular systems CEP LX22NPO5104 GA MŠMT - Ministerstvo školství, mládeže a tělovýchovy LUAUS23095 GA MŠMT - Ministerstvo školství, mládeže a tělovýchovy GA21-18993S GA ČR - Grantová agentura ČR Výzkumná infrastruktura NCMG III - 90267 - Univerzita Karlova / 1. lékařská fakulta Institucionální podpora FGU-C - RVO:67985823 UT WOS 001135780200003 EID SCOPUS 85180749816 DOI 10.1152/physiolgenomics.00084.2023 Anotace Recently, we have identified a recessive mutation, an abnormal coat appearance in the BXH6 strain, a member of the HXB/BXH set of recombinant inbred (RI) strains. The RI strains were derived from the spontaneously hypertensive rat (SHR) and Brown Norway rat (BN-Lx) progenitors. Whole genome sequencing of the mutant rats identified the 195875980 G/A mutation in the tuftelin 1 (Tuft1) gene on chromosome 2, which resulted in a premature stop codon. Compared with 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 monocyte chemoattractant protein-1 and leptin levels, indicative of reduced inflammation. Analysis of the liver proteome identified differentially expressed proteins from fatty acid metabolism and β-oxidation, peroxisomes, carbohydrate metabolism, inflammation, and proteasome pathways. These results provide evidence for the important role of the Tuft1 gene in the regulation of lipid and glucose metabolism and suggest underlying molecular mechanisms. Pracoviště Fyziologický ústav Kontakt Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Rok sběru 2025 Elektronická adresa https://doi.org/10.1152/physiolgenomics.00084.2023
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