Ask about this productRelated genes to: COPS7A antibody
- Gene:
- COPS7A NIH gene
- Name:
- COP9 signalosome subunit 7A
- Previous symbol:
- -
- Synonyms:
- CSN7A
- Chromosome:
- 12p13.31
- Locus Type:
- gene with protein product
- Date approved:
- 2001-10-03
- Date modifiied:
- 2015-08-24
Related products to: COPS7A antibody
Related articles to: COPS7A antibody
- Hemoglobinopathies are the most common monogenic genetic disorders, primarily managed through blood transfusions or bone marrow transplantation. Clinical severity other than mutational effect is not well investigated and still unknown. This study aimed to identify dysregulated molecular pathways in red blood cells (RBCs) contributing to thalassemia severity. From a cohort of 285 patients with hemoglobinopathy, 10 age-matched individuals with identical compound heterozygous mutations (IVS 1-5 G>C and CD 26 G>A) were screened. Five had severe thalassemia requiring regular transfusions, whereas 5 had a nonsevere form requiring fewer transfusions. RNA sequencing and proteome analysis were conducted on isolated RBCs using NovaSeq and Orbitrap mass spectrometry platforms, respectively. Bioconductor R and different bioinformatics tools were used subsequently. Integrated transcriptome-proteome analysis revealed a global loss of messenger RNA-protein concordance. CDK11A and MCTS1 lost positive correlation, whereas RLP38 and H3C1 showed compensatory overtranslation, linked to transcription factors regulating erythropoiesis. In transfusion-dependent thalassemia (TDT), WNK3, HNRNPUL1, COPS7A, and HTATSF1 displayed discordant expression, indicating posttranscriptional aberrations. Protein-to-transcript ratio analysis showed reduced cytoskeletal (ankyrin, spectrin) expression, elevated chaperone activity, elevated ferroptosis markers (ferritin heavy chain 1, ferritin light chain, heme oxygenase-1), and suppressed autophagy. Collectively, these multilayered alterations, including splicing dysfunction, posttranscriptional deregulation, ferroptosis, autophagy suppression, oxidative stress, and cytoskeletal fragility, underlie the greater disease severity observed in TDT than non-transfusion-dependent thalassemia. - Source: PubMed
Mitra NibeditaBhattacharyya UpasanaChowdhury ProsantoPal ArijitM Korwar ArvindBhattacharjee SamsidhhiBasu Anupam - As the primary microtubule organizing center in animal cells, centrosome abnormalities are involved in human colon cancer. - Source: PubMed
Wang Hui-YanDiao YanTan Pei-ZhuLiang Huan - The endangerment mechanisms of various species are a focus of studies on biodiversity and conservation biology. is an endangered species, but the reasons behind its endangerment remain unclear. We investigated the endangerment mechanisms of using mitochondrial DNA, nuclear DNA, and microsatellite loci markers. The results showed that the nucleotide diversity of mitochondria DNA and heterozygosity of microsatellite markers were high ( = 0.04615, = 0.7115), whereas the nucleotide diversity of the nuclear genes was low (: = 0.00508, : = 0.00677, : = 0.00462, : = 0.00679). The phylogenetic tree and median-joining network based on mitochondrial DNA sequences clustered the species into three clades, namely North Vietnam-Fujian, Myanmar-West Yunnan, and Laos-Hainan clades. However, joint analysis of nuclear genes did not exhibit clustering. Analysis of molecular variance revealed a strong population genetic structure; IMa2 analysis did not reveal significant gene flow between all groups ( > .05), and isolation-by-distance analysis revealed a significant positive correlation between genetic and geographic distances ( < .05). The mismatch distribution analysis, neutral test, and Bayesian skyline plots revealed that the population were relatively stable and exhibited a contraction trend. The results implied that exhibits female philopatry and male-biased dispersal. The Hengduan Mountains could have acted as a geographical barrier for gene flow between the North Vietnam-Fujian clade and the Myanmar-West Yunnan clade, whereas the Qiongzhou Strait may have limited interaction between the Hainan populations and other clades. The warm climate during the second interglacial Quaternary period (. 0.33 Mya) could have been responsible for species differentiation, whereas the cold climate during the late Quaternary last glacial maximum (. 10 ka BP) might have caused the overall contraction of species. The lack of significant gene flow in nuclear microsatellite loci markers among the different populations investigated reflects recent habitat fragmentation due to anthropogenic activities; thus, on-site conservation of the species and restoration of gene flow corridors among populations need immediate implementation. - Source: PubMed
Publication date: 2023/10/20
Liu WeiHao YanSong XinhangMa LiqunLi JingHe JingyingBu YanzhenNiu Hongxing - Asthenozoospermia is a troublesome disease experienced by men in their reproductive years, but its exact etiology remains unclear. To address this problem, this study aims to identify the hub genes and crucial pathways in asthenozoospermia. - Source: PubMed
Publication date: 2022/12/05
Zou CiXu ShenGeng HaoLi EnlaiSun WeiYu Dexin - Dilated cardiomyopathy (DCM) is one of the main causes of systolic heart failure and frequently has a genetic component. The molecular mechanisms underlying the onset and progression of DCM remain unclear. This study aimed to identify novel diagnostic biomarkers to aid in the treatment and diagnosis of DCM. - Source: PubMed
Guo QixinQu QiangWang LuyangLiao ShengenZhu XuDu AnningZhu QingqingCheang IokfaiGao RongrongLi Xinli