Genomes and Genes
Affiliation: University of Texas Southwestern Medical Center
- Turer E, McAlpine W, Wang K, Lu T, Li X, Tang M, et al. Creatine maintains intestinal homeostasis and protects against colitis. Proc Natl Acad Sci U S A. 2017;114:E1273-E1281 pubmed publisher..These findings establish an in vivo requirement for rapid replenishment of cytoplasmic ATP within colonic epithelial cells in the maintenance of the mucosal barrier after injury. ..
- Wang T, Zhan X, Bu C, Lyon S, Pratt D, Hildebrand S, et al. Real-time resolution of point mutations that cause phenovariance in mice. Proc Natl Acad Sci U S A. 2015;112:E440-9 pubmed publisher..The method described here permits forward genetic analysis in mice, limited only by the rates of mutant production and screening. ..
- Zhang Z, Turer E, Li X, Zhan X, Choi M, Tang M, et al. Insulin resistance and diabetes caused by genetic or diet-induced KBTBD2 deficiency in mice. Proc Natl Acad Sci U S A. 2016;113:E6418-E6426 pubmed..Kbtbd2 was down-regulated in diet-induced obese insulin-resistant mice in a leptin-dependent manner. KBTBD2 is an essential regulator of the insulin-signaling pathway, modulating insulin sensitivity by limiting p85Î± abundance. ..
- Beutler B. Innate immunity and the new forward genetics. Best Pract Res Clin Haematol. 2016;29:379-387 pubmed publisher..We have created more than 100,000 coding/splicing mutations. And by screening for defects of innate and adaptive immunity we have discovered many "new" proteins needed for innate immune function. ..
- Choi J, Wang K, Zhang D, Zhan X, Wang T, Bu C, et al. IgD class switching is initiated by microbiota and limited to mucosa-associated lymphoid tissue in mice. Proc Natl Acad Sci U S A. 2017;114:E1196-E1204 pubmed publisher..These results identify a pathway, present in WT mice and hyperactivated in 53BP1-deficient mice, by which microbiota signal via Toll-like receptors to elicit IgD CSR. ..
- Zhang D, Tomisato W, Su L, Sun L, Choi J, Zhang Z, et al. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5. Proc Natl Acad Sci U S A. 2017;114:E5197-E5206 pubmed publisher..GK5 exists as part of a skin-specific regulatory mechanism for cholesterol biosynthesis, independent of cholesterol regulation elsewhere in the body. ..
- Tabeta K, Du X, Arimatsu K, Yokoji M, Takahashi N, Amizuka N, et al. An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue. Sci Rep. 2017;7:11717 pubmed publisher..Seal mice represent a model of human osteogenesis imperfecta, and reveal a previously unknown mechanism for splicing "rescue." ..
- Sun L, Jiang Z, Acosta Rodriguez V, Berger M, Du X, Choi J, et al. HCFC2 is needed for IRF1- and IRF2-dependent Tlr3 transcription and for survival during viral infections. J Exp Med. 2017;214:3263-3277 pubmed publisher..HCFC2 was also necessary for the transcription of a large subset of other IRF2-dependent interferon-regulated genes. Deleterious mutations of Hcfc2 may therefore increase susceptibility to diverse infectious diseases. ..
- Chen Z, Holland W, Shelton J, Ali A, Zhan X, Won S, et al. Mutation of mouse Samd4 causes leanness, myopathy, uncoupled mitochondrial respiration, and dysregulated mTORC1 signaling. Proc Natl Acad Sci U S A. 2014;111:7367-72 pubmed publisher..Samd4 may interface with mTORC1 signaling through an interaction with 14-3-3 proteins and with Akt, which phosphorylates Samd4 in vitro. ..