Association of polymorphisms of BTN2A1 and ILF3 with myocardial infarction in Japanese individuals with different lipid profiles

Yamada, Yoshiji

doi:10.3892/mmr.2011.441

Cited by 5 publications

(2 citation statements)

References 5 publications

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“…For example, upon suppression of BUD13 and ILF3, we observed a downregulation of target miR-144. BUD13is an RBP with putative roles in splicing (Dziem- bowski et al, 2004) that has been associated with metabolic syndrome (Lin et al, 2016), while ILF3 has a putative role in cardiovascular disease (Yoshida et al, 2011a, 2011b) and was previously shown to interact with DGCR8 (Shiohama et al, 2007). We found that these RBPs affect the miR-144 locus, mostly likely by promoting stability of the precursor (ILF3, which has a binding site within the pre-miR) or the primary (BUD13, which has a pre/ pri-junction spanning cluster) miRNA transcript.…”

Section: Discussionmentioning

confidence: 99%

Systematic Discovery of RNA Binding Proteins that Regulate MicroRNA Levels

2018

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RNA binding proteins (RBPs) interact with primary, precursor, and mature microRNAs (miRs) to influence mature miR levels, which in turn affect critical aspects of human development and disease. To understand how RBPs contribute to miR biogenesis, we analyzed human enhanced UV crosslinking followed by immunoprecipitation (eCLIP) datasets for 126 RBPs to discover miR-encoding genomic loci that are statistically enriched for RBP binding. We find that 92% of RBPs interact directly with at least one miR locus, and that some interactions are cell line specific despite expression of the miR locus in both cell lines evaluated. We validated that ILF3 and BUD13 directly interact with and stabilize miR-144 and that BUD13 suppresses mir-210 processing to the mature species. We also observed that DDX3X regulates primary miR-20a, while LARP4 stabilizes precursor mir-210. Our approach to identifying regulators of miR loci can be applied to any user-defined RNA annotation, thereby guiding the discovery of uncharacterized regulators of RNA processing.

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Section: Discussionmentioning

confidence: 99%

Systematic Discovery of RNA Binding Proteins that Regulate MicroRNA Levels

2018

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“…Recent studies showed that ILF3 plays a novel and central role in angiogenesis [39]. Tetsuro et al reported that rs2569512 of ILF3 were signi cantly associated with myocardial infarction (MI) in Japanese individuals [40]. The study of ILF3 polymorphism in tumors has not been reported yet.…”

Section: Discussionmentioning

confidence: 99%

Genetic Variants in circRNA Biogenesis-Related Genes Contribute to the Susceptibility and Treatment Outcome of Pediatric Acute Lymphoblastic Leukemia

Zhang

Liu

Cai

et al. 2021

Preprint

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Background: Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood. Recently circRNAs were proved associated with malignant hematopoietic differentiation process. However, evidence regarding single-nucleotide polymorphisms (SNP) of circRNA biogenesis key regulator genes and the risk of ALL is still fairly elusive. Methods: To evaluate the novel circRNA biogenesis associated genes SNPs susceptible to ALL, we carried out a case-control study genotyping 6 SNPs in 782 cases of ALL and 1077 controls. Following that, stratiﬁed analysis and prognosis analysis were performed. In addition, we detected the gene expression levels of the ALL associated genetic variants. Results: After adjustment for multiple testing, we found two genetic variants, QKI (rs715020 A > G) and ILF3 (rs3810156 C > G), exhibited a signiﬁcant association with increased susceptibility to ALL. The associations were further validated by stratified analyses. Moreover, rs715020 A > G indeed affected the expression level of QKI, which showed higher mRNA levels. Of note, the polymorphisms QKI rs715020 was identified as a predictor of chemotherapy outcome.Conclusions: Our results suggested that circRNA biogenesis-related genes were associated with the ALL risk and highlight plausible interplay between genetic variants in ALL treatment.

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Evolutionary and polymorphism analyses reveal the central role of BTN3A2 in the concerted evolution of the BTN3 gene family

et al. 2017

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The butyrophilin 3 (BTN3) are receptors of the immunoglobulin superfamily implicated in the T lymphocytes regulation and present a wide plasticity in mammals, being absent in rodent but present with three copies in human. In order to understand how these genes have been diversified and what forces guiding this diversification, we studied their evolution and show that the three human BTN3 genes are the result of two successive duplications in Primates and that the three genes are present in Hominoids and the Old World Monkey groups. A thorough phylogenetic analysis reveals a concerted evolution of BTN3 characterized by a strong and recurrent homogenization of the region encoding the signal peptide and the IgV domain in Hominoids. During these homogenizations the sequences of BTN3A1 or BTN3A3 are replaced by BTN3A2 sequence. In human, the analysis of the diversity of the three genes in 1683 individuals representing 26 worldwide populations shows that the three genes are polymorphic, with more than 46 alleles for each gene, but they are also marked by extreme homogenization of the IgV sequences. The same analysis performed for the BTN2 genes that are also diversified in Primates, shows also a concerted evolution, however it is not as strong and recurrent as for BTN3. This study shows that BTN3 receptors are marked by extreme concerted evolution at the IgV domain and that BTN3A2 plays a central role in this evolution.

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Association of polymorphisms of BTN2A1 and ILF3 with myocardial infarction in Japanese individuals with different lipid profiles

Cited by 5 publications

References 5 publications

Systematic Discovery of RNA Binding Proteins that Regulate MicroRNA Levels

Systematic Discovery of RNA Binding Proteins that Regulate MicroRNA Levels

Genetic Variants in circRNA Biogenesis-Related Genes Contribute to the Susceptibility and Treatment Outcome of Pediatric Acute Lymphoblastic Leukemia

Evolutionary and polymorphism analyses reveal the central role of BTN3A2 in the concerted evolution of the BTN3 gene family

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