Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis

Kim, Ki‐Tack; Lee, Jong Seok; Lee, Byoung Wook; Seok, Ho-Sik; Jeon, Hye Sook; Kim, Jun Ho; Chung, Joo‐Ho

doi:10.3892/br.2013.101

Cited by 13 publications

(6 citation statements)

References 28 publications

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“…It is located on the presynaptic membrane and belongs to the regulators of the release of neurotransmitters, on which the transmission of a nerve impulse depends. Polymorphisms in this gene have been found to be associated in humans with the development of degenerative lumbar scoliosis [ 34 ]. In [ 35 ], the authors revealed an association of mutations in the RIMS2 gene with the development of neurodegenerative disorders and pancreatic damage, accompanied by a decrease in insulin secretion.…”

Section: Discussionmentioning

confidence: 99%

A Genome-Wide Search for Candidate Genes of Meat Production in Jalgin Merino Considering Known Productivity Genes

Krivoruchko

Surov

Skokova

et al. 2022

Genes

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In a group of Jalgin merino rams with no significant influence on the dispersion of the phenotypes of known productivity genes (MSTN, MEF2B, FABP4, etc.), a genome-wide search for associations of individual polymorphisms with intravital indicators of meat productivity was performed. Using the Ovine Infinium HD BeadChip 600K, 606,000 genome loci were evaluated. Twenty-three substitutions were found to be significantly associated with external measurements of the body and ultrasonic parameters. This made it possible to describe 14 candidate genes, the structural features of which can cause changes in animal phenotypes. No closely spaced genes were found for two substitutions. The identified polymorphisms were found in the exons, introns, and adjacent regions of the following genes and transcripts: CDCA2, ENSOARG00000014477, C4BPA, RIPOR2, ENSOARG00000007198, ENSOARG00000026965 (LincRNA), ENSOARG00000026436 (LincRNA), ENSOARG00000026782 (LincRNA), TENM3, RTL8A, MOSPD1, RTL8С, RIMS2, and P4HA3. The detected genes affect the metabolic pathways of cell differentiation and proliferation and are associated with the regulation of the immune system. This confirms their possible participation in the formation of the phenotypes of productivity parameters in animals and indicates the need for further study of the structure of candidate genes in order to identify their internal polymorphisms.

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Section: Discussionmentioning

confidence: 99%

A Genome-Wide Search for Candidate Genes of Meat Production in Jalgin Merino Considering Known Productivity Genes

Krivoruchko

Surov

Skokova

et al. 2022

Genes

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“…[ 20 – 22 ] Since it acts as an important modulator of synaptic membrane exocytosis, previous studies typically focused on its functional role in brain-associated diseases. [ 23 – 25 ] A few studies reported its potential involvement in tumor biology. [ 26 , 27 ] However, some of its interacting proteins have well-characterized regulatory effects on breast cancer.…”

Section: Discussionmentioning

confidence: 99%

In silico screening using bulk and single-cell RNA-seq data identifies RIMS2 as a prognostic marker in basal-like breast cancer

Zhang¹,

Liu

Zhu³

2021

Medicine

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Single-cell RNA-seq has become a powerful tool to understand tumor cell heterogenicity. This study tried to screen prognosis-related genes in basal-like breast tumors and evaluate their correlations with cellular states at the single-cell level. Bulk RNA-seq data of basal-like tumor cases from The Cancer Genome Atlas-Breast Cancer (TCGA-BRCA) and single-cell RNA-seq from GSE75688 were retrospectively reviewed. Kaplan–Meier survival curves, univariate and multivariate analysis based on Cox regression model were conducted for survival analysis. Gene set enrichment analysis (GSEA) and single-cell cellular functional state analysis were performed. Twenty thousand five hundred thirty genes with bulk RNA-seq data in TCGA were subjected to screening. Preliminary screening identified 10 candidate progression-related genes, including CDH19, AQP5, SDR16C5, NCAN, TTYH1, XAGE2, RIMS2, GZMB, LY6D, and FAM3B . By checking their profiles using single-cell RNA-seq data, only CDH19, SDR16C5, TTYH1, and RIMS2 had expression in primary triple-negative breast cancer (TNBC) cells. Prognostic analysis only confirmed that RIMS2 expression was an independent prognostic indicator of favorable progression free survival (PFS) (HR: 0.78, 95%: 0.64–0.95, P = .015). GSEA analysis showed that low RIMS2 group expression had genes significantly enriched in DNA Repair, and MYC Targets V2. Among the 89 basal-like cells, RIMS2 expression was negatively correlated with DNA repair and epithelial-to-mesenchymal transition (EMT). RIMS2 expression was negatively associated with DNA repair capability of basal-like breast tumor cells and might serve as an independent indicator of favorable PFS.

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“…RIMS2 , known to be involved in the synapse-related processes, is one of the genes with higher mRNA expression levels with age. More specifically, RIMS2 is a presynaptic protein in the synaptic vesicle release site, so called the active zone, and interacts with several synaptic proteins including Rab3 to regulate Ca 2+ -dependent neurotransmitter release from synaptic vesicles 21,22 . Previous study suggested that ageing may decrease the active zone density of neuromuscular junctions in mice and rats which may affect neurotransmission 23 .…”

Section: Discussionmentioning

confidence: 99%

Age-related gene and miRNA expression changes in airways of healthy individuals

Ong

Woldhuis

Boudewijn

et al. 2019

Sci Rep

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Knowledge on age-related miRNA changes in healthy individuals and their interaction with mRNAs is lacking. We studied age-related mRNA and miRNA expression changes and their interactions in normal airways. RNA and small RNA sequencing was performed on bronchial biopsies of 86 healthy individuals (age: 18–73) to determine age-related expression changes. Per age-related miRNA we determined the enrichment of age-related predicted targets and their correlation. We identified 285 age-related genes and 27 age-related miRNAs. Pathway enrichment showed that genes higher expressed with age were involved in synapse-related processes. Genes lower expressed with age were involved in cell cycle regulation, the immune system and DNA damage/repair. MiR-146a-5p, miR-146b-5p and miR-142-5p were lower expressed with increasing age and we found a significant enrichment for predicted targets of these miRNAs among genes that were higher expressed with age. The expression levels of the enriched predicted targets RIMS2 and IGSF1 were negatively correlated with both miR-146a-5p and miR-146b-5p. RIMS2 was present in the enriched process, i.e. positive regulation of synaptic transmission. In conclusion, genes decreased with ageing are involved in several of the ageing hallmarks. Genes higher expressed with ageing were involved in synapse-related processes, of which RIMS2 is potentially regulated by two age-related miRNAs.

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Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis

Cited by 13 publications

References 28 publications

A Genome-Wide Search for Candidate Genes of Meat Production in Jalgin Merino Considering Known Productivity Genes

A Genome-Wide Search for Candidate Genes of Meat Production in Jalgin Merino Considering Known Productivity Genes

In silico screening using bulk and single-cell RNA-seq data identifies RIMS2 as a prognostic marker in basal-like breast cancer

Age-related gene and miRNA expression changes in airways of healthy individuals

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