Ask about this productRelated genes to: CHRFAM7A antibody
- Gene:
- CHRFAM7A NIH gene
- Name:
- CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
- Previous symbol:
- -
- Synonyms:
- D-10, CHRNA7-DR1
- Chromosome:
- 15q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-29
- Date modifiied:
- 2016-03-03
Related products to: CHRFAM7A antibody
Related articles to: CHRFAM7A antibody
- Nicotinic acetylcholine receptor of α7 type (α7-nAChR) is a ligand-gated ion channel composed of five identical α7 subunits. Secreted Ly6/uPAR-related protein-1 (SLURP-1) controls carcinoma progression by negative modulation of oncogenic α7-nAChR. In this study, we observed dramatic decrease of SLURP-1 plasma level in patients with metastatic melanoma. We suggested usage of recombinant analog of human SLURP-1 (rSLURP-1) to compensate this deficiency for metastatic melanoma treatment. rSLURP-1 did not affect viability of different patient-derived metastatic melanoma cells, but reduced migration of some of them. Metastatic melanoma cells of other lines were resistant to rSLURP-1. Antimigratory rSLURP-1 effect was mediated by α7-nAChR, while resistance to rSLURP-1 correlated with overexpression of human-specific gene, which encodes the α7 subunit with truncated -terminal region (dupα7) able to form hybrid α7/dupα7-nAChR channels. Electrophysiological study in oocytes showed that rSLURP-1 inhibits α7/dupα7-nAChR weaker than α7-nAChR. In contrast, 'Oncotag' peptide, which mimics the loop I of SLURP-1, inhibited α7/dupα7- and α7-nAChRs with similar efficiency. Oncotag suppressed metastatic melanoma cell migration independently on dupα7 expression. Computer modeling provided rationale for altered activities of rSLURP-1 and Oncotag on α7/dupα7-nAChR. TCGA database analysis revealed correlation between and gene expression and worse survival prognosis for patients with metastatic melanoma. Thus, (1) low plasma SLURP-1 level may be a specific marker of metastatic melanoma development, (2) metastatic melanoma progression can be controlled by α7-nAChR inhibition, and (3) dupα7 overexpression is a new molecular mechanism of melanoma resistance to internal cholinergic control and new target for melanoma treatment. - Source: PubMed
Publication date: 2026/04/16
Kirichenko Artem VBychkov Maxim LKulbatskii Dmitry SShlepova Olga VShulepko Mikhail AGornostaeva Tamara YaOrekhov Philipp SParamonov AlexanderMikhaylova Irina NBurova Olga SMedyanik Igor AYashin Konstantin SWang HongshuangWang XiaohuiKirpichnikov Mikhail PShenkarev Zakhar OLyukmanova Ekaterina N - Cryptococcus neoformans meningitis (CM), a severe AIDS-defining illness with high mortality, remains refractory to effective therapies. This study investigated the mechanisms underlying Cryptococcus neoformans (Cn)-induced disruption of the blood-brain barrier (BBB). Using in vitro models of cerebral microvascular endothelial cells, we demonstrated that Cn disrupted the BBB via adhesion and invasion, leading to pyroptosis in these cells. Furthermore, our findings revealed that Cn induced upregulation of the α7 nicotinic acetylcholine receptor (α7nAChR). Importantly, inhibition of α7nAChR alleviated pyroptosis caused by Cn. Interestingly, the CHRFAM7A gene product, a duplicated α7nAChR subunit, negatively regulated its activity, thereby mitigating Cn-induced pyroptosis in cerebral microvascular endothelial cells. Fungal ergosterol, a key virulence factor, plays a critical role in this process. It slowed the wound healing in cell scratch assays and induced pyroptosis in cerebral microvascular endothelial cells. Consistent with in vitro findings, in vivo experiments using immunosuppressed mouse models demonstrated that Cn increased BBB permeability, as evidenced by enhanced Evans blue leakage and reduced ZO-1 expression in the cerebral cortex. Additionally, Cn reduced vascular activity and regulated pyroptosis-related proteins in the mouse cerebral cortex. Notably, both pharmacological inhibition of α7nAChR with MLA and its genetic modulation via CHRFAM7A overexpression conferred significant survival benefits and alleviated Cn-induced pathological damage in mice. These findings provide novel insights and potential therapeutic targets for the prevention and treatment of CM. - Source: PubMed
Publication date: 2026/02/12
Chen JingyuZhou BingliangZou JinhuWang PenghuiMeng XiangshunHuang PengweiChen JieCao Hong - Human-specific segmental duplications (HSDs) contain millions of base pairs of sequence unique to the human genome, including genes that shape neurodevelopment. Despite their young age (<6 million years), HSD genes exhibit widespread regulatory divergence, with paralog-specific expression patterns documented across a variety of tissues and cell types. Using long-read expression and epigenomic data, we show that human-specific paralogs tend to have lower activity than the shared, ancestral ones. To systematically characterize the -regulatory elements (CREs) within HSDs and understand patterns of regulatory change in recently evolved gene families, we conducted a massively parallel reporter assay of 7,160 human duplicated and chimpanzee orthologous sequences in lymphoblastoid (GM12878) and neuroblastoma (SH-SY5Y) cell lines. A large proportion (14-24%) of sequences exhibited differential activity relative to the chimpanzee ortholog (or between human paralogs), mostly with small fold-differences. Combining measured activity levels across all assayed sequences, predicted differences in -regulatory activity correlated with mRNA levels in SH-SY5Y. Differentially active CREs were validated for , , and that may contribute to paralog-specific expression patterns and thereby to human-specific traits. While we find some changes in CRE activity shared between duplicate paralogs likely driving regulatory divergence in gene expression, consideration of non-shared adjacent sequences to duplications suggests a larger role for altered genome positional effects. In all, this work suggests that functional divergence of duplicated CREs contributes moderately to regulatory divergence of HSD genes and uncovers enhancers that are candidate drivers of human-specific regulatory patterns. - Source: PubMed
Publication date: 2025/11/14
Shew Colin JKaya GulhanMcGinty Sean PDennis Megan Y - The clinical interest in mechanisms controlling the biosynthesis and release of the pro-inflammatory cytokine interleukin (IL)-1β is outstanding, as IL-1β is associated with life-threatening inflammatory diseases including hyperinflammation caused by extracellular ATP originating from damaged cells. Previously, we identified a cholinergic mechanism controlling ATP-dependent IL-1β release via metabotropic signaling of unconventional nicotinic acetylcholine receptors (nAChRs) containing subunits α7 and α9* (denoting homomeric or heteromeric α9) in monocytes. This study examines whether this mechanism is active in human macrophages (THP-1 cell-derived, peripheral blood mononuclear cell-derived, and peritoneal macrophages). - Source: PubMed
Publication date: 2025/10/27
Wolf Philipp M KHanke DominikSingh Vijay KKeller Hanno LEttischer Luca JTeppe LauraAmati Anca-LauraHecker AndreasHusain-Syed FaeqRohde MariusNuber Ulrike ABüttner KathrinMcIntosh J MichaelLiese JulianeMazurek SybilleGrau VeronikaRichter Katrin - Alzheimer’s disease (AD) is the most common neurodegenerative disorder, affecting over 32 million people globally. The variability in treatment response to AD medications is influenced by genetic factors, sex, comorbidities, and medication history. Pharmacogenomics, the study of how an individual’s genetic makeup influences drug response, offers a promising approach to understanding these differences. This systematic review investigated the role of genetic polymorphisms in affecting treatment outcomes in AD. Following PRISMA guidelines, we systematically searched PubMed, Scopus, Cochrane, and PharmGKB databases for studies on AD, pharmacogenomics, and treatment response. Ten researchers independently screened the articles, with two independent reviewers resolving conflicts. A total of 1126 records were identified, and after removing duplicates and screening, 58 studies met inclusion criteria. emerged as the most consistently studied gene, with ε2 and ε3 alleles generally associated with better responses to acetylcholinesterase inhibitors (AChEIs) and NMDA receptor antagonists, while ε4 carriage predicted poorer outcomes. The 10 allele, common in East Asian populations, was linked to enhanced donepezil response due to slower drug metabolism. Other genes, including , , , , , showed potential associations with treatment response, particularly with AChEIs, though results varied across populations and study designs. Polymorphisms in inflammatory, metabolic, and vascular genes such as ,, were also associated with cognitive outcomes, but findings were largely exploratory. In conclusion, and remain the most promising pharmacogenetic markers in AD, particularly for guiding donepezil therapy. However, evidence remains inconsistent due to varying study designs, populations, and clinical metrics. Additional genes show potential but require further validation. Larger, multiethnic studies with standardized treatment protocols and outcomes are needed to establish the clinical utility of pharmacogenomics in AD therapy. - Source: PubMed
Publication date: 2025/10/09
Climacosa Fresthel Monica MOrnos Eric David BGapaz Nicole Clarence Louise LGuantia Mary Gale RCruz Joana Marie CManalo Rafael Vincent MYu Melody LQureshi Almeera PCarampel Ajina CAsis Joannes Luke BReyes John Carlo BDacasin Aira BAnlacan Veeda Michelle M