C14orf169 _ NO66
- Known as:
- C14orf169 _ NO66
- Catalog number:
- Y213872
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C14orf169 _ NO66
Related genes to: C14orf169 _ NO66
- Gene:
- RIOX1 NIH gene
- Name:
- ribosomal oxygenase 1
- Previous symbol:
- C14orf169
- Synonyms:
- FLJ21802, NO66, MAPJD, JMJD9
- Chromosome:
- 14q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-19
- Date modifiied:
- 2019-03-11
Related products to: C14orf169 _ NO66
Related articles to: C14orf169 _ NO66
- The retina is an accessible extension of the central nervous system, yet the protein-coding architecture linking retinal structure, visual function, and major blinding diseases remains poorly defined. Here, using large-scale whole-exome sequencing data from 356,982 UK Biobank participants, exome-wide gene-based tests of rare coding variants and single-variant analyses of common coding variants are performed. A total of 22 significant rare-variant gene-based associations involving 16 genes are identified, including 12 novel genes, 10 of which are independently supported in the All of Us cohort (N = 245,388). Single-variant analyses identify 243 independent common coding variants in 126 genes, including 24 novel genes. CFI, C3, and RIOX1 show associations across retinal structure, visual function, and disease phenotypes, supporting cross-domain pleiotropy. Among the disease-associated genes, the novel gene FYB2 is prioritized for experimental validation, supported by retinal pigment epithelium (RPE)-related expression evidence and clinical relevance in Cox analyses. FYB2 knockdown aggravates barrier dysfunction in human induced RPE (iRPE) cells, supporting a potential role in diabetic retinopathy. These findings define the protein-coding architecture of retinal phenotypes, and support shared genetic links across retinal structure, visual function, and disease. The identified genes provide candidate targets for mechanistic investigation in blinding retinal disorders. - Source: PubMed
Publication date: 2026/07/24
Li JianqingGe YijunDu JingxiaoYang LiuWu BangshengHang ChenyueShen MengxiMao YiminZhang TingBo QiyuZhao TianyuanJiao YutianWang YazhiGao ShunxiangChen JieqiongSun JunranLi TongJia HuixunDou YangCheng WeiWan XiaolingYu JintaiSun XiaodongLu Bai - In previous study, we showed that nucleolar protein 66 (NO66) is a chromatin modifier and negatively regulates Osterix activity as well as mesenchymal progenitor differentiation. Genetic ablation of the 66 () gene in cells of the 1-expressing mesenchymal lineage leads to acceleration of osteochondrogenic differentiation and a larger skeleton in adult mice, whereas mesenchyme-specific overexpression of 66 inhibits osteochondrogenesis resulting in dwarfism and osteopenia. However, the impact of NO66 overexpression in cells of the osteoblast lineage remains largely undefined. Here, we generated osteoblast-specific transgenic mice overexpressing a FLAG-tagged NO66 transgene driven by the 2.3 kB -1 (1) promoter. We found that overexpression of in cells of the osteoblast lineage did not cause overt defects in developmental bones but led to osteoporosis in the long bones of adult mice. This includes decreased bone volume (BV), bone volume density (bone volume/total volume, BV/TV), and bone mineral density (BMD) in cancellous compartment of long bones, along with the accumulation of fatty droplets in bone marrow. culture of the bone marrow mesenchymal stem/stromal cells (BMSCs) from adult -NO66 transgenic mice showed an increase in adipogenesis and a decrease in osteogenesis. Taken together, these data demonstrate a crucial role for in adult bone formation and homeostasis. Our -NO66 transgenic mice provide a novel animal model for the mechanistic and therapeutic study of NO66 in osteoporosis. - Source: PubMed
Publication date: 2023/01/10
Chen QinSinha Krishna Mde Crombrugghe BenoitKrahe Ralf - The role of cancer stem cells in esophageal squamous cell carcinoma (ESCC) remains unclear. The mRNA stemness index (mRNAsi) of 179 ESCC patients (GSE53625) was calculated using a machine learning algorithm based on their mRNA expression. Stemness-related genes were identified by weighted correlation network analysis (WGCNA) and LASSO regression, whose associations with mutation status, immune cell infiltrations, and potential compounds were also analyzed. The role of these genes in proliferation and their expressions was assessed in ESCC cell lines and 112 samples from our center. The ESCC samples had significantly higher mRNAsi than the normal tissues. Patients with high mRNAsi exhibited higher worse OS. Seven stemness-related genes were identified by WGCNA and LASSO regression, based on which a risk-predicted score model was constructed. Among them, CST1, CILP, PITX2, F2RL2, and RIOX1 were favorable for OS, which were adverse for DPP4 and ZFHX4 in the GSE53625 dataset. However, RIOX1 was unfavorable for OS in patients from our center. In vitro assays showed that CST1, CILP, PITX2, F2RL2, and RIOX1 were pro-proliferated, which were opposite for DDP4 and ZFHX4. In addition, SMARCA4, NOTCH3, DNAH5, and KALRN were more mutated in the low-score group. The low-score group had significantly more memory B cells, monocytes, activated NK cells, and Tregs and less macrophages M2, resting mast cells, and resting dendritic cells. Seven stemness-related genes are significantly related to the prognosis, gene mutations, and immune cell infiltration of ESCC. Some potential anticancer compounds may be favorable for OS. - Source: PubMed
Zhao MengnanJin XingChen ZhencongZhang HuanZhan ChengWang HaoWang Qun - Mendelian variants can determine both insemination success and neonatal survival and thus influence fertility and rearing success of cattle. We present 24 deficient homozygous haplotype regions in the Holstein population of Switzerland and provide an overview of the previously identified haplotypes in the global Holstein breed. This study encompasses massive genotyping, whole-genome sequencing (WGS) and phenotype association analyses. We performed haplotype screenings on almost 53 thousand genotyped animals including 114 k SNP data with two different approaches. We revealed significant haplotype associations to several survival, birth and fertility traits. Within haplotype regions, we mined WGS data of hundreds of bovine genomes for candidate causal variants, which were subsequently evaluated by using a custom genotyping array in several thousand breeding animals. With this approach, we confirmed the known deleterious SMC2:p.Phe1135Ser missense variant associated with Holstein haplotype (HH) 3. For two previously reported deficient homozygous haplotypes that show negative associations to female fertility traits, we propose candidate causative loss-of-function variants: the HH13-related KIR2DS1:p.Gln159* nonsense variant and the HH21-related NOTCH3:p.Cys44del deletion. In addition, we propose the RIOX1:p.Ala133_Glu142del deletion as well as the PCDH15:p.Leu867Val missense variant to explain the unexpected low number of homozygous haplotype carriers for HH25 and HH35, respectively. In conclusion, we demonstrate that with mining massive SNP data in combination with WGS data, we can map several haplotype regions and unravel novel recessive protein-changing variants segregating at frequencies of 1 to 5%. Our findings both confirm previously identified loci and expand the spectrum of undesired alleles impairing reproduction success in Holstein cattle, the world's most important dairy breed. - Source: PubMed
Publication date: 2022/03/31
Häfliger Irene MSpengeler MirjamSeefried Franz RDrögemüller Cord - Exposure to radiation causes DNA damage; hence, continuous surveillance and timely DNA repair are important for genome stability. Epigenetic modifications alter the chromatin architecture, thereby affecting the efficiency of DNA repair. However, how epigenetic modifiers coordinate with the DNA repair machinery to modulate cellular radiosensitivity is relatively unknown. Here, we report that loss of the demethylase ribosomal oxygenase 1 (RIOX1) restores cell proliferation and reduces cell death after exposure to ionizing radiation. Furthermore, RIOX1 depletion enhances homologous recombination (HR) repair but not nonhomologous end-joining (NHEJ) repair in irradiated bone marrow cells and oral mucosal epithelial cells. Mechanistic study demonstrates that RIOX1 removes monomethylation at K491 of cyclic GMP-AMP synthase (cGAS) to release cGAS from its interaction with the methyl-lysine reader protein SAGA complex-associated factor 29 (SGF29), which subsequently enables cGAS to interact with poly(ADP-ribosyl)ated poly(ADP-ribose) polymerase 1 (PARP1) at DNA break sites, thereby blocking PARP1-mediated recruitment of Timeless. High expression of RIOX1 maintains cGAS K491me at a low level, which impedes HR repair and reduces cellular tolerance to ionizing radiation. This study highlights a novel RIOX1-dependent mechanism involved in the non-immune function of cGAS that is essential for the regulation of ionizing radiation-elicited HR repair. - Source: PubMed
Publication date: 2022/02/24
Xiao YanxuanLi JingyiLiao XiaoyuHe YuminHe TaoYang CuipingJiang LuJeon So MiLee Jong-HoChen YongbinLiu RuiChen Qianming