Mark1 (mouse)
- Known as:
- Mark1 (mouse)
- Catalog number:
- Y213898
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Mark1 (mouse)
Related genes to: Mark1 (mouse)
- Gene:
- MARK1 NIH gene
- Name:
- microtubule affinity regulating kinase 1
- Previous symbol:
- -
- Synonyms:
- MARK, PAR-1C
- Chromosome:
- 1q41
- Locus Type:
- gene with protein product
- Date approved:
- 1997-10-27
- Date modifiied:
- 2016-02-10
Related products to: Mark1 (mouse)
Related articles to: Mark1 (mouse)
- Most eQTL and TWAS analyses quantify expression using aggregate, tissue-agnostic transcript annotations and ignore isoform-level regulation, potentially obscuring or misattributing regulatory mechanisms. Here, we developed a framework leveraging publicly available long-read RNA-seq data to perform tissue-informed inference of genetic regulation and prioritize candidate causal isoforms for breast cancer risk. We quantified gene- and isoform-level expression in breast tumor (TCGA), non-cancerous mammary tissue, and cultured fibroblasts (GTEx) using three transcriptome annotations: standard GENCODE, tissue-specific long-read-derived assemblies, and combined annotations incorporating transcript-isoforms from both. While GENCODE cataloged over 250,000 pan-tissue isoforms, the tissue-specific long-read assemblies captured reduced sets of 74,717 isoforms in tumor, 48,057 in fibroblasts, and 22,941 in healthy breast. We performed eQTL mapping and fine-mapping, followed by colocalization with overall and subtype-specific breast cancer GWAS and isoform-level TWAS. While most eGenes were concordant across annotations, approximately 1/3 of lead cis-eQTLs for shared eGenes differed between long-read assemblies and GENCODE. Further, eIsoform discovery was highly annotation-specific. In healthy breast tissue, the gold standard tissue for building gene expression prediction models for TWAS of breast cancer, 46% of eIsoforms identified by the long-read annotation were unique to that annotation even though 93.7% of them are present in GENCODE. Despite combined annotations expanding the GENCODE catalog by only 0.6-7.6% depending on tissue source, 69% of unique significant isoform-trait associations were specific to a single annotation. Long-read-informed annotations uncovered regulatory associations entirely missed by GENCODE, including a candidate regulatory isoform at the locus captured only in fibroblasts and a previously unannotated splice variant prioritized as the likely effector transcript at . These findings demonstrate that transcript annotation is not merely a technical consideration but critically defines the biological hypothesis space for regulatory mechanisms and shapes discovery. Incorporating tissue-resolved isoform annotations from long-read RNA-seq improves the specificity of regulatory inference and enhances identification of candidate causal isoforms at GWAS loci. - Source: PubMed
Publication date: 2026/03/25
Head S TaylorNemani AryunChang Yung-HanHarrison Tabitha ABresnahan Sean TRothstein Joseph HSieh WeivaLindström SaraBhattacharya Arjun - Makorin-2 (MKRN2) is an E3 ubiquitin ligase involved in multiple biological processes, yet its role in neurological disorders remains poorly understood. This study aims to elucidate how MKRN2 regulates the RNA-binding protein CSDE1-a molecule linked to autism-related genes-and to explore the functional implications of this interaction in neurodevelopment. - Source: PubMed
Publication date: 2026/02/11
Wang ZiHan YaningYang PengJia CaiweiLi ChuanyinYuan ShilinWei PengfeiHu Ronggui - Microtubule affinity-regulating kinases (MARKs), implicated in synaptic remodelling processes, have attracted attention as key regulatory targets in numerous neurological and psychiatric disorders. However, their role in epilepsy remains unclear. This study examined the involvement of MARK1 or MARK2 in regulating epilepsy-induced synaptic plasticity. - Source: PubMed
Publication date: 2026/02/19
Xu MinShi YaoqinMu XinxinSu ChunyuWei PengchengWang QianZhang YingtianJi ShengminFu ChenyuTian JingweiLi Chunmei - Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons in the substantia nigra (SN) and associated motor symptoms. Recent studies suggest a strong link between circadian rhythm disruption (CRD) and PD pathogenesis. However, the underlying molecular mechanisms remain unclear. In this study, we investigated the impact of CRD on PD progression using a 6-hydroxydopamine induced experimental PD model in mice. CRD was induced using a chronic jet lag protocol and mice were divided into four main groups as Sham, CRD, PD and PD + CRD. Behavioral assessments, immunofluorescence staining, and proteomic analyses were performed to evaluate functional and molecular changes. Non-lesional CRD groups have shown that CRD can cause molecular changes that may sensitise neural tissue to degeneration. CRD significantly worsened motor asymmetry, reduced locomotor activity PD mice. Neuropathological analysis revealed a marked reduction in tyrosine hydroxylase (TH) dopaminergic neurons in the SN and decreased TH fiber density in the striatum, indicating enhanced neurodegeneration. Proteomic analysis identified 427 differentially expressed proteins in the SN and 115 in the striatum, with key alterations in pathways related to mitochondrial function, oxidative phosphorylation, dopaminergic signaling, proteasome-mediated protein degradation, and ferroptosis. Notably, proteins involved in cytoskeletal stability (MARK1, Septin3), neuroinflammation (JAK2, Ifi208), and metabolic regulation (PDE4A, ACSL3) exhibited significant changes in CRD-exposed PD mice. These findings highlight the critical role of circadian dysfunction in accelerating PD progression by exacerbating neuronal loss and dysregulating key molecular pathways. Targeting circadian homeostasis may provide a novel therapeutic strategy for mitigating neurodegeneration in PD. - Source: PubMed
Publication date: 2025/06/23
Koc Halil IDogan EnesYelkenci Hayriye EBayraktaroglu CigdemOzpinar AysenurBalaban BuseAltunay SerdarBeker MerveKilic ErtugrulBeker Mustafa C - To create a comprehensive multi-tissue molecular atlas of Sjögren's disease by using unbiased RNA sequencing to identify differentially expressed genes (DEGs) in peripheral blood and conjunctival transcriptomes, and to characterize the ocular surface and gut microbiome profiles in participants classified as Sjögren's versus non-Sjögren's disease. - Source: PubMed
Publication date: 2025/05/02
Nguyen Robert DNortey JeremyGebreegziabher ElisabethHinterwirth ArminZhong LinaChen CindiDoan ThuyLietman Thomas MGonzales John A