Ask about this productRelated genes to: KCNQ1 Blocking Peptide
- Gene:
- KCNQ1 NIH gene
- Name:
- potassium voltage-gated channel subfamily Q member 1
- Previous symbol:
- LQT, KCNA9
- Synonyms:
- Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1
- Chromosome:
- 11p15.5-p15.4
- Locus Type:
- gene with protein product
- Date approved:
- 1997-02-05
- Date modifiied:
- 2019-04-23
- Gene:
- KCNQ1OT1 NIH gene
- Name:
- KCNQ1 opposite strand/antisense transcript 1
- Previous symbol:
- -
- Synonyms:
- KvDMR1, KCNQ1-AS2, KvLQT1-AS, LIT1, NCRNA00012
- Chromosome:
- 11p15.5
- Locus Type:
- RNA, long non-coding
- Date approved:
- 1999-08-05
- Date modifiied:
- 2019-04-23
Related products to: KCNQ1 Blocking Peptide
Related articles to: KCNQ1 Blocking Peptide
- CRISPR-Cas9 nucleases are widely used to introduce targeted DNA double-strand breaks (DSBs) for genome engineering, but the long-term impact of these lesions on local epigenetic information remains poorly characterized. In a companion research article, we used Cas9-assisted targeted nanopore sequencing (CTS) to reveal that CRISPR-Cas9-induced DSBs can disrupt local epigenetic maintenance across multiple genomic contexts and cell systems. Here, we present a structured description of the raw and minimally processed datasets underlying the study. These datasets provide base-resolution measurements of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) at the differentially methylated regions (DMRs) of several imprinted loci, two heterochromatic regions, a cancer-associated promoter epimutation region, and the SNRPN DMR at early/late passages of a clonal line. They enable re-analysis and methodological benchmarking of DSB-associated epigenetic instability. - Source: PubMed
Publication date: 2026/03/10
Zhang YingziWang MenggeBi ChongweiLi Mo - Colorectal cancer (CRC) exhibits substantial molecular heterogeneity, yet detailed single-cell transcriptomic data from Japanese patients remain limited. Here, we performed single-cell RNA sequencing (scRNA-seq) on tumor tissues and adjacent normal tissues from four Japanese CRC patients to characterize malignant cell populations. We identified a common cancer-associated cell cluster observed across all four cases, characterized by high expression of the long noncoding RNA KCNQ1 opposite strand/antisense transcript 1 (KCNQ1OT1). Further analysis revealed a marked decrease in Ras Association Domain Family Member 6 (RASSF6) expression within this cluster, despite clinical datasets reporting that elevated RASSF6 expression correlates with poor overall survival in Western cohorts. Reanalysis of publicly available bulk RNA-seq data from independent East Asian cohorts confirmed that RASSF6 expression was consistently reduced in tumor tissues compared with adjacent normal colon tissues, while KCNQ1OT1 expression showed no apparent differences across cohorts. Collectively, our single-cell analysis delineates a recurrent cancer-associated transcriptional state observed within this cohort and highlights distinct gene expression features that may be underappreciated by bulk or population-averaged analyses, underscoring the value of single-cell profiling for refining molecular interpretations of CRC. - Source: PubMed
Publication date: 2026/03/02
Iwabuchi SadahiroSawada KentaroKojima MotohiroOzawa MihoTaniguchi HiroyaBando HideakiAbe KazumiKuze YutaImamura KiyomiKashima YukieHirohashi YoshihikoTajima AtsushiTorigoe ToshihikoSuzuki YutakaYoshino TakayukiHashimoto Shinichi - Podocyte injury is a hallmark of diabetic nephropathy associated with proteinuria and renal dysfunction. This study elucidated the role of long non-coding RNA KCNQ1 overlapping transcript 1 (LncRNA KCNQ1OT1) in high-glucose (HG)-induced podocyte injury. In HG-treated podocytes, KCNQ1OT1, WTAP, and MAPK6 were quantified. After KCNQ1OT1 interference, cell viability, apoptosis, inflammation, and oxidative stress were measured. Subcellular localization of KCNQ1OT1 was determined by nuclear-cytoplasmic fractionation and RNA FISH. Binding of MLL1 to KCNQ1OT1 was validated via RNA pull-down and RIP. MLL1/H3K4me3 enrichment on the WTAP promoter was detected by ChIP. m6A levels of MAPK6 were measured by MeRIP. Binding of IGF2BP1 to MAPK6 was confirmed via RIP. Rescue experiments explored the WTAP/MAPK6 axis in podocyte injury. HG treatment upregulated KCNQ1OT1, WTAP, and MAPK6 in podocytes. KCNQ1OT1 knockdown enhanced cell proliferation, reduced apoptosis, and attenuated inflammation and oxidative stress. Mechanistically, nuclear-localized KCNQ1OT1 recruited MLL1 to the WTAP promoter, enhancing H3K4me3 modification and WTAP activation. WTAP promoted m6A methylation of MAPK6 mRNA, which was stabilized by IGF2BP1. Overexpression of WTAP or MAPK6 abrogated the protective effects of KCNQ1OT1 knockdown on podocytes injury. In conclusions, KCNQ1OT1 exacerbates HG-induced podocyte injury by upregulating the WTAP/MAPK6 axis in an m6A-dependent manner. - Source: PubMed
Publication date: 2026/01/13
Hou YikaiWang DanliLiu LijunTian JiakunZhi MinShi Yongbing - Research findings suggest that advanced paternal age is associated with an increased risk of autism spectrum disorder (ASD) in children. The biological process behind this father-to-child inheritance of a disease may be driven by sperm epigenetic marks. This has been suggested earlier, but the identification of epigenomic regions responsible for these age-related responses have not been further elaborated. To identify sperm-specific marks, we conducted an epigenome-wide association study in sperm from 63 men, using the Illumina 450K array. Linear regression modeling was applied to identify differentially methylated CpGs (DMCs) by age; we controlled for body mass index, patient status, and multiple testing. We found 14,622 statistically significant age-related DMCs; most (69%) were inversely correlated. We identified 95 imprinted genes and emphasized 747 age-related DMCs adjacent to an imprint control region (ICR). Altered methylation patterns in ICRs may result in disturbed expression of imprinted genes and are suspected to be at the origin of several diseases in offspring, including neurodevelopmental disorders. Mapping our results to other databases revealed the following set of imprinted genes linked to ASD: , and Further research on these genes could help understand the contribution of paternal age on the development of autism. A change in DNA methylation levels in ICRs before conception may contribute to the heterogeneity and complexity of ASD. Measured DNA methylation effect sizes were subtle, but small epigenetic disturbances in sperm may be important on a population level, especially if men continue delaying fatherhood. Public health would benefit from the development of preventive and educational programs. - Source: PubMed
Publication date: 2025/12/29
Casella EugeniaDepovere JanaDelger ChantalButynets MariiaAntczak PhilippPrice ThomasJirtle Randy LMurphy Susan KHoyo CathrineSoubry Adelheid - The expression of imprinted genes, which depends on their gamete of origin, is regulated by DNA sequences characterized by differential methylation between the maternal and paternal alleles (also known as germline differentially methylated regions or gDMRs). The most common molecular defect associated with Beckwith-Wiedemann syndrome (BWS), a condition linked to overgrowth and tumours, is the loss of methylation of the KCNQ1OT1-TSS gDMR located on chromosome 11p15.5 (also known as IC2 LoM). Approximately one-third of BWS patients with IC2 LoM exhibit multi-locus imprinting disturbances (MLID). While maternal-effect variants in proteins of the oocyte subcortical maternal complex (SCMC) have been linked to MLID, the underlying mechanisms and health impact of this epigenetic disturbance remain unclear. - Source: PubMed
Publication date: 2025/10/03
Cecere FrancescoPignata LauraD'Angelo EmiliaGiaccari CarloSaadat AbuSparago AngelaAngelini ClaudiaHay Mele BrunoMussa AlessandroFerrero Giovanni BattistaScarano GioacchinoGori GiuliaDi Maria EmilioRomano CorradoTarani LuigiPiscopo CarmeloScala IrisTenorio Jair AntonioLapunzina PabloCerrato FlaviaRiccio Andrea