SALF antibody - C-terminal region (ARP31514_T100)
- Known as:
- SALF (anti-) - C-terminal region (ARP31514_T100)
- Catalog number:
- arp31514_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- SALF antibody - C-terminal region (ARP31514_T100)
Related genes to: SALF antibody - C-terminal region (ARP31514_T100)
- Gene:
- STON1-GTF2A1L NIH gene
- Name:
- STON1-GTF2A1L readthrough
- Previous symbol:
- -
- Synonyms:
- SALF
- Chromosome:
- 2p16.3
- Locus Type:
- readthrough
- Date approved:
- 2007-07-31
- Date modifiied:
- 2014-11-19
Related products to: SALF antibody - C-terminal region (ARP31514_T100)
Related articles to: SALF antibody - C-terminal region (ARP31514_T100)
- The purpose of this work was to find a link between the breast cancer (BC)-risk effects of sex hormone-binding globulin (SHBG)-associated polymorphisms and obesity. The study was conducted on a sample of 1498 women (358 BC; 1140 controls) who, depending on the presence/absence of obesity, were divided into two groups: obese (119 BC; 253 controls) and non-obese (239 BC; 887 controls). Genotyping of nine SHBG-associated single nucleotide polymorphisms (SNP)-rs17496332 , rs780093 , rs10454142 , rs3779195 , rs440837 , rs7910927 , rs4149056 , rs8023580 , and rs12150660 -was executed, and the BC-risk impact of these loci was analyzed by logistic regression separately in each group of obese/non-obese women. We found that the BC-risk effect correlated by GWAS with the SHBG-level polymorphism rs10454142 depends on the presence/absence of obesity. The SHBG-lowering allele C rs10454142 has a risk value for BC in obese women (allelic model: CT, OR = 1.52, 95%CI = 1.10-2.11, and p = 0.013; additive model: CCTCTT, OR = 1.71, 95%CI = 1.15-2.62, and p = 0.011; dominant model: CC + TCTT, OR = 1.95, 95%CI = 1.13-3.37, and p = 0.017) and is not associated with the disease in women without obesity. SNP rs10454142 and 10 proxy SNPs have adipose-specific regulatory effects (epigenetic modifications of promoters/enhancers, DNA interaction with 51 transcription factors, eQTL/sQTL effects on five genes (, , , , and ), etc.), can be "likely cancer driver" SNPs, and are involved in cancer-significant pathways. In conclusion, our study detected an obesity-dependent association of the rs10454142 with BC in women. - Source: PubMed
Publication date: 2024/04/08
Ponomarenko IrinaPasenov KonstantinChurnosova MariaSorokina InnaAristova InnaChurnosov VladimirPonomarenko MarinaReshetnikova YuliyaReshetnikov EvgenyChurnosov Mikhail - Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality has been rarely reported. In the present study, we performed GWAS using neovascular AMD cases in East Asian. The discovery stage compared 581,252 single nucleotide polymorphisms (SNPs) between 803 unilateral and 321 bilateral Japanese cases but no SNP showed genome-wide significance, while SNPs at six regions showed P-value < 1.0 × 10, STON1-GTF2A1L/LHCGR/FSHR, PLXNA1, CTNNA3, ARMS2/HTRA1, LHFP, and FLJ38725. The first replication study for these six regions comparing 36 bilateral and 132 unilateral Japanese cases confirmed significant associations of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR), rs2284665 (ARMS2/HTRA1), and rs8002574 (LHFP) to bilaterality. In the second replication study comparing 24 bilateral and 78 unilateral cases from Singapore, rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) only showed significant association. Meta-analysis of discovery and replication studies confirmed genome-wide level significant association (P = 2.61 × 10) of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) and strong associations (P = 5.76 × 10 and 9.73 × 10, respectively) of rs2284665 (ARMS2/HTRA1) and rs8002574 (LHFP). Our GWAS for neovascular AMD bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR and confirmed the previously reported association of ARMS2/HTRA1. - Source: PubMed
Publication date: 2017/08/03
Kawashima-Kumagai KyokoYamashiro KenjiYoshikawa MunemitsuMiyake MasahiroMing Gemmy Cheung ChuiFan QiaoKoh Jia YuSaito MasaakiSugahara-Kuroda MasakoOishi MahoAkagi-Kurashige YumikoNakata IsaoNakanishi HideoGotoh NorimotoOishi AkioTamura HiroshiOoto SotaroTsujikawa AkitakaKurimoto YasuoSekiryu TetsujuMatsuda FumihikoKhor Chiea-ChuenCheng Ching-YuWong Tien YinYoshimura Nagahisa - Genome wide association studies (GWAS) have revealed 11 independent risk loci for polycystic ovary syndrome (PCOS), a common disorder in young women characterized by androgen excess and oligomenorrhea. To put these risk loci and the single nucleotide polymorphisms (SNPs) therein into functional context, we measured DNA methylation and gene expression in subcutaneous adipose tissue biopsies to identify PCOS-specific alterations. Two genes from the LHCGR region, STON1-GTF2A1L and LHCGR, were overexpressed in PCOS. In analysis stratified by obesity, LHCGR was overexpressed only in non-obese PCOS women. Although not differentially expressed in the entire PCOS group, INSR was underexpressed in obese PCOS subjects only. Alterations in gene expression in the LHCGR, RAB5B and INSR regions suggest that SNPs in these loci may be functional and could affect gene expression directly or indirectly via epigenetic alterations. We identified reduced methylation in the LHCGR locus and increased methylation in the INSR locus, changes that are concordant with the altered gene expression profiles. Complex patterns of meQTL and eQTL were identified in these loci, suggesting that local genetic variation plays an important role in gene regulation. We propose that non-obese PCOS women possess significant alterations in LH receptor expression, which drives excess androgen secretion from the ovary. Alternatively, obese women with PCOS possess alterations in insulin receptor expression, with underexpression in metabolic tissues and overexpression in the ovary, resulting in peripheral insulin resistance and excess ovarian androgen production. These studies provide a genetic and molecular basis for the reported clinical heterogeneity of PCOS. - Source: PubMed
Publication date: 2015/08/25
Jones Michelle RBrower Meredith AXu NingCui JinruiMengesha EmebetChen Yii-Der ITaylor Kent DAzziz RicardoGoodarzi Mark O - Recent work has suggested that environmental chemicals, including those contained in cigarette smoke, can have adverse effects on the exposed individuals as well as their future progeny. The mechanisms underlying transmission of environmentally induced phenotypes through the germ line are not well understood. However, a predominant process appears to be the establishment of permanent heritable epigenetic alterations, and a number of studies have implicated microRNAs in such processes. Here, we show that cigarette smoke induces specific differences in the spermatozoal microRNA content of human smokers compared with non-smokers, and that these altered microRNAs appear to predominantly mediate pathways vital for healthy sperm and normal embryo development, particularly cell death and apoptosis. microRNA-mediated perturbation of such pathways may explain how harmful phenotypes can be induced in the progeny of smokers. - Source: PubMed
Publication date: 2012/05/01
Marczylo Emma LAmoako Akwasi AKonje Justin CGant Timothy WMarczylo Timothy H - In this paper we describe the isolation of a cDNA that encodes a human TFIIAalpha/beta-like factor (ALF). The open reading frame of ALF predicts a protein of 478 amino acids that contains characteristic N- and C-terminal conserved domains separated by an internal nonconserved domain. In addition, a rare ALF-containing cDNA, which possesses an extended N terminus (Stoned B/TFIIAalpha/beta-like factor; SALF) has also been identified. The results of Northern and dot blot analyses show that ALF is expressed almost exclusively in testis; in contrast, TFIIAalpha/beta and TFIIAgamma are enriched in testis but are also widely expressed in other human tissues. Recombinant ALF (69 kDa) and TFIIAgamma (12 kDa) polypeptides produced in Escherichia coli form an ALF/gamma complex that can stabilize TBP-TATA interactions in an electrophoretic mobility shift assay. The ALF/gamma complex is also able to restore transcription from the adenovirus major late promoter using HeLa cell nuclear extracts that have been depleted of TFIIA. Overall, the data show that ALF is a functional homolog of human general transcription factor TFIIAalpha/beta that may be uniquely important to testis biology. - Source: PubMed
Upadhyaya A BLee S HDeJong J