Ask about this productRelated genes to: HUS1B antibody
- Gene:
- HUS1B NIH gene
- Name:
- HUS1 checkpoint clamp component B
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 6p25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-27
- Date modifiied:
- 2015-08-25
Related products to: HUS1B antibody
Related articles to: HUS1B antibody
- Although linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about their role in non BRCA1/2 individuals in the Sri Lankans. Hence we performed linkage analysis to identify susceptibility loci related to the inherited risk of cancer in a cohort of Sri Lankans affected with hereditary breast cancer. The Illumina global screening array having 654,027 single nucleotide polymorphism markers was performed in four families, in which at least three individuals within third degree relatives were affected by breast cancer. Two-point parametric linkage analysis was conducted assuming disease allele frequency of 1%. Penetrance was set at 90% for carriers with a 10% phenocopy rate. - Source: PubMed
Publication date: 2022/06/02
Wijesiriwardhana PrabhaviMusolf Anthony MBailey-Wilson Joan EWetthasinghe T KalumDissanayake Vajira H W - DNA damage response mechanisms have meiotic roles that ensure successful gamete formation. While completion of meiotic double-strand break (DSB) repair requires the canonical RAD9A-RAD1-HUS1 (9A-1-1) complex, mammalian meiocytes also express RAD9A and HUS1 paralogs, RAD9B and HUS1B, predicted to form alternative 9-1-1 complexes. The RAD1 subunit is shared by all predicted 9-1-1 complexes and localizes to meiotic chromosomes even in the absence of HUS1 and RAD9A. Here, we report that testis-specific disruption of RAD1 in mice resulted in impaired DSB repair, germ cell depletion, and infertility. Unlike or disruption, loss in meiocytes also caused severe defects in homolog synapsis, impaired phosphorylation of ATR targets such as H2AX, CHK1, and HORMAD2, and compromised meiotic sex chromosome inactivation. Together, these results establish critical roles for both canonical and alternative 9-1-1 complexes in meiotic ATR activation and successful prophase I completion. - Source: PubMed
Publication date: 2022/02/08
Pereira CatalinaArroyo-Martinez Gerardo AGuo Matthew ZDowney Michael SKelly Emma RGrive Kathryn JMahadevaiah Shantha KSims Jennie RFaca Vitor MTsai CharltonSchiltz Carl JWit NiekJacobs HeinzClark Nathan LFreire RaimundoTurner JamesLyndaker Amy MBrieno-Enriquez Miguel ACohen Paula ESmolka Marcus BWeiss Robert S - Acquired platinum resistance impedes successful treatment of epithelial ovarian cancer (EOC), and this resistance may be associated with inherited DNA damage-repair response. In the present study, we performed a two-phase analysis to assess associations between 8191 single-nucleotide polymorphisms within 127 genes of nucleotide excision repair pathway from a genome-wide association study dataset and platinum treatment response in 803 Han Chinese EOC patients. As a result, we identified that platinum-based chemotherapeutic response was associated with two potentially functional variants MNAT1 rs2284704 T>C [TC + CC versus TT, adjusted odds ratio (OR) = 0.89, 95% confidence interval (CI) = 0.83-0.95 and P = 0.0005] and HUS1B rs61748571 A>G (AG + GG versus AA, OR = 1.10, 95% CI = 1.03-1.18 and P = 0.005). Compared with the prediction model for clinical factors only, models incorporating HUS1B rs61748571 [area under the curve (AUC) 0.652 versus 0.672, P = 0.026] and the number of unfavorable genotypes (AUC 0.652 versus 0.668, P = 0.040) demonstrated a significant increase in the AUC. Further expression quantitative trait loci analysis suggested that MNAT1 rs2284704 T>C significantly influenced mRNA expression levels of MNAT1 (P = 0.003). These results indicated that MNAT1 rs2284704 T>C and HUS1B rs61748571 A>G may serve as potential biomarkers for predicting platinum treatment response of Chinese EOC patients, once validated by further functional studies. - Source: PubMed
Li HaoranDai HongjiShi TingyanCheng XiSun MenghongChen KexinWang MengyunWei Qingyi - In the activation and maintenance of ATR-dependent DNA damage checkpoint, the interaction between the Rad17-RFC2-5 and 9-1-1 complexes is essential, however, the regulatory mechanism of the interaction is not known. Here we show that vertebrate Rad17 proteins contain a polyanionic 12-amino acid sequence in the C-terminal ends that is important for the 9-1-1 interaction. We demonstrate that the C-terminal tail contains a conserved sequence designated iVERGE that must be intact for the 9-1-1 interaction and contains potential posttranslational modification sites. Our data raise a possibility that the Rad17 C-terminal tail is a molecular switch that regulates the 9-1-1 interaction and the ATR pathway. - Source: PubMed
Publication date: 2017/06/28
Fukumoto YasunoriNakayama YujiYamaguchi Naoto - Aberrant DNA methylation is associated with a range of human disorders. To identify differences in DNA methylation of gene promoters between placentas of low-birth-weight (LBW) and normal-birth-weight (NBW) infants, we screened 8091 genes for aberrant methylation in placentas using microarray-based integrated analysis of methylation by isoschizomers (MIAMI). Seven candidate genes for hypomethylation in the placentas of LBW infants were selected. Among these candidates, COBRA analyses suggested that the HUS1B gene was hypomethylated in some of the placentas. Quantitative methylation analyses by bisulfite-pyrosequencing indicated that the promoter region of the gene was hypomethylated in three of the 86 placentas analyzed. The HUS1B promoter was highly methylated in two cell lines derived from trophoblastic cells. Gene expression increased when the promoter was demethylated by 5Aza-dC treatment. This suggests that hypomethylation of HUS1B alters gene expression in the placenta and that this dysregulated gene expression may contribute to the pathogenesis of LBW by affecting placental functions involved in fetal growth. - Source: PubMed
Publication date: 2016/02/18
Rumbajan Janette MareskaYamaguchi YukoNakabayashi KazuhikoHigashimoto KenYatsuki HitomiNishioka KenichiMatsuoka KentaroAoki ShigehisaToda ShujiTakeda SatoruSeki HiroyukiHatada IzuhoHata KenichiroSoejima HidenobuJoh Keiichiro