更新于：2024-11-01

CNGB1

更新于：2024-11-01

基本信息

别名

CNCG2、CNCG3L、CNCG4

+ [19]

简介

Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.

关联

项与 CNGB1 相关的药物

AAV5-hCNGB1 gene (NIH/NCATS)

靶点

CNGB1

作用机制

CNGB1调节剂

在研机构

National Center for Advancing Translational Sciences [+1]

原研机构

National Center for Advancing Translational Sciences [+1]

在研适应症

视网膜色素变性

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

AAV-CNGB1 gene therapy (Sanofi/Ludwig Maximilians-Universitat Munchen)

靶点

CNGB1

作用机制

CNGB1调节剂 [+1]

在研机构

Genzyme Corp. [+1]

原研机构

Genzyme Corp.

在研适应症

视网膜色素变性

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

AAV5-RHO-CNGB1

靶点

CNGB1

作用机制

CNGB1 inhibitors

在研机构

Michigan State University

原研机构

Michigan State University

在研适应症

视网膜色素变性

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 CNGB1 相关的临床结果

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100 项与 CNGB1 相关的转化医学

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0 项与 CNGB1 相关的专利（医药）

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198

项与 CNGB1 相关的文献（医药）

2024-07-01·Experimental Eye Research

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

Article

作者: Roosing, Susanne ; Ali, Ghazanfar ; Corominas, Jordi ; Zai, Jawaid Ahmed ; Zahid, Muhammad ; Hitti-Malin, Rebekkah J ; Ansar, Muhammad ; Jarral, Afeefa ; Rodenburg, Kim ; Cremers, Frans P M ; Khalil, Sharqa ; Basharat, Rabia ; Ruiz-Ederra, Javier ; Gilissen, Christian ; Mahmood, Arif ; de Bruijn, Suzanne E ; Panneman, Daan M ; Boonen, Erica G M ; Rodríguez-Hidalgo, María

Inherited retinal dystrophies (IRDs) are characterized by photoreceptor dysfunction or degeneration. Clinical and phenotypic overlap between IRDs makes the genetic diagnosis very challenging and comprehensive genomic approaches for accurate diagnosis are frequently required. While there are previous studies on IRDs in Pakistan, causative genes and variants are still unknown for a significant portion of patients. Therefore, there is a need to expand the knowledge of the genetic spectrum of IRDs in Pakistan. Here, we recruited 52 affected and 53 normal individuals from 15 consanguineous Pakistani families presenting non-syndromic and syndromic forms of IRDs. We employed single molecule Molecular Inversion Probes (smMIPs) based panel sequencing and whole genome sequencing to identify the probable disease-causing variants in these families. Using this approach, we obtained a 93% genetic solve rate and identified 16 (likely) causative variants in 14 families, of which seven novel variants were identified in ATOH7, COL18A1, MERTK, NDP, PROM1, PRPF8 and USH2A while nine recurrent variants were identified in CNGA3, CNGB1, HGSNAT, NMNAT1, SIX6 and TULP1. The novel MERTK variant and one recurrent TULP1 variant explained the intra-familial locus heterogeneity in one of the screened families while two recurrent CNGA3 variants explained compound heterozygosity in another family. The identification of variants in known disease-associated genes emphasizes the utilization of time and cost-effective screening approaches for rapid diagnosis. The timely genetic diagnosis will not only identify any associated systemic issues in case of syndromic IRDs, but will also aid in the acceleration of personalized medicine for patients affected with IRDs.

2024-05-01·New Phytologist

Natural variation in CYCLIC NUCLEOTIDE‐GATED ION CHANNEL 4 reveals a novel role of calcium signaling in vegetative phase change in Arabidopsis

Article

作者: Wu, Gang ; Feng, Shengjun ; Song, Xia ; Miao, Huaiqi ; Wang, Xiang

Summary

The timing of vegetative phase change (VPC) in plants is regulated by a temporal decline in the expression of miR156. Both exogenous cues and endogenous factors, such as temperature, light, sugar, nutrients, and epigenetic regulators, have been shown to affect VPC by altering miR156 expression. However, the genetic basis of natural variation in VPC remains largely unexplored.

Here, we conducted a genome‐wide association study on the variation of the timing of VPC in Arabidopsis. We identified CYCLIC NUCLEOTIDE‐GATED ION CHANNEL 4 (CNGC4) as a significant locus associated with the diversity of VPC.

Mutations in CNGC4 delayed VPC, accompanied by an increased expression level of miR156 and a corresponding decrease in SQUAMOSA PROMOTER BINDING‐LIKE (SPL) gene expression. Furthermore, mutations in CNGC2 and CATION EXCHANGER 1/3 (CAX1/3) also led to a delay in VPC. Polymorphisms in the CNGC4 promoter contribute to the natural variation in CNGC4 expression and the diversity of VPC. Specifically, the early CNGC4 variant promotes VPC and enhances plant adaptation to local environments.

In summary, our findings offer genetic insights into the natural variation in VPC in Arabidopsis, and reveal a previously unidentified role of calcium signaling in the regulation of VPC.

2024-03-20·NeuroReport

Analysis of the lncRNA-miRNA-mRNA network to explore the regulation mechanism in human traumatic brain injury

Article

作者: Wang, Qifu ; Zhang, Daojin ; Shao, Xuefei ; Zhang, Maosong ; Su, Yue ; Liu, Hongbing ; Fang, Jincheng ; Ge, Ruixiang

Traumatic brain injury (TBI) refers to brain dysfunction with or without traumatic structural injury induced by an external force. Nevertheless, the molecular mechanism of TBI remains undefined. Differentially expressed (DE) lncRNAs, DEmRNAs and DEmiRNAs were selected between human TBI tissues and the adjacent histologically normal tissue by high-throughput sequencing. Gene ontology enrichment analysis and Kyoto Encyclopedia of Genes and Genomes pathway analysis of overlapping DEmRNAs between predicted mRNAs of DEmiRNAs and DEmRNAs. The competitive endogenous RNA (ceRNA) network of lncRNA-miRNA-mRNA was established in light of the ceRNA theory. In the ceRNA network, the key lncRNAs were screened out. Then key lncRNAs related ceRNA subnetwork was constructed. After that, qRT-PCR was applied to validate the expression levels of hub genes. 114 DElncRNAs, 1807 DEmRNAs and 6 DEmiRNAs were DE in TBI. The TBI-related ceRNA network was built with 73 lncRNA nodes, 81 mRNA nodes and 6 miRNAs. According to topological analysis, two hub lncRNAs (ENST00000562897 and ENST00000640877) were selected to construct the ceRNA subnetwork. Subsequently, key lncRNA-miRNA-mRNA regulatory axes constructed by two lncRNAs including ENST00000562897 and ENST00000640877, two miRNAs including miR-6721-5p and miR-129-1-3p, two mRNAs including ketohexokinase (KHK) and cyclic nucleotide-gated channel beta1 (CNGB1), were identified. Furthermore, qRT-PCR results displayed that the expression of ENST00000562897, KHK and CNGB1 were significantly decreased in TBI, while the miR-6721-5p expression levels were markedly increased in TBI. The results of our study reveal a new insight into understanding the ceRNA regulation mechanism in TBI and select key lncRNA-miRNA-mRNA axes for prevention and treatment of TBI.