MED13L

Last update 08 May 2025

Basic Info

Synonyms

KIAA1025, MED13L, Mediator complex subunit 13-like

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Introduction

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

100 Clinical Results associated with MED13L

100 Translational Medicine associated with MED13L

0 Patents (Medical) associated with MED13L

Literatures (Medical) associated with MED13L

01 Nov 2024·Journal of Medical Genetics

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Article

Author: Meurisse, Evine ; Boussion, Simon ; Willems, Marjolaine ; Lacombe, Didier ; Piton, Amélie ; Smol, Thomas ; Ghoumid, Jamal ; Thuillier, Caroline ; Fauqueux, Jade ; Ait-Yahya, Emilie

Pathogenic variants in the MED13L gene are associated with the autosomal dominant MED13L syndrome, which is characterised by global developmental delay and cardiac malformations. We investigated two heterozygous MED13L variants located at the canonical donor splice site motif of exon 7: c.1009+1G>C and c.1009+5G>C. We report that in silico predictions suggested two possible outcomes: exon 7 skipping, resulting in loss of the phosphodegron motif essential for MED13L regulation, or activation of a cryptic donor site in intron 7, leading to intron retention. RNA analysis confirmed that both variants affected the exon 7 splice donor site, resulting in the retention of 73 bp of intron 7. This retention caused a frameshift and premature translation termination, consistent with haploinsufficiency. Our results highlight the importance of combining predictive and experimental approaches to understand the functional impact of splice site variants. These insights into the molecular consequences of MED13L variants provide a deeper understanding of the genetic basis of MED13L syndrome.

01 Nov 2024·Pediatrics & Neonatology

Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population

Article

Author: Chen, Chen ; Huang, Ruibin ; Zhou, Hang ; Yu, Qiuxia ; Fu, Fang ; Wang, Dan ; Li, Fucheng ; Chen, Guilan ; Ma, Chunlin ; Lu, Yan ; Lei, Tingying ; Guo, Fei ; Wang, You ; Li, Ru

OBJECTIVEThis single-center retrospective study aimed to investigate the genetic factors contributing to neonatal and pediatric pulmonary hypertension in a Chinese population using trio whole-exome sequencing (trio-WES).METHODThis retrospective analysis reviewed the clinical and genetic profiles of children under 18 years of age diagnosed with pulmonary hypertension between March 2017 and March 2022. The diagnosis of pediatric pulmonary hypertension was confirmed through echocardiography and catheterization. Trio-WES was performed on the patients and their parents after obtaining informed consent.RESULTSA total of 51 children with neonatal and pediatric pulmonary hypertension were included, comprising 20 with pediatric pulmonary arterial hypertension and 31 with persistent pulmonary hypertension of the newborn. Trio-WES detected 16 pathogenic or likely pathogenic variants in 14 patients across ten genes, including: BMPR2 (n = 2), CHD7 (n = 2), FOXF1 (n = 2), MED13L (n = 1), TNNI3 (n = 2), ALMS1 (n = 1), KMT2D (n = 2), NKX2-1 (n = 1), NONO (n = 1), and CACNA1E (n = 1). In addition, two patients exhibited de novo pathogenic copy number variations.CONCLUSIONOur findings demonstrate the significant diagnostic value of trio-WES in pediatric pulmonary hypertension, supporting its recommendation for these patients.

01 Jun 2024·Pharmacological Reports

Mediator kinase module proteins, genetic alterations and expression of super-enhancer regulated genes in colorectal cancer

Article

Author: Voutsadakis, Ioannis A

BACKGROUNDGenetic alterations are well characterized as contributors to the pathogenesis of cancers. Epigenetic abnormalities can lead to perturbations of the expression of genes in cancer cells without structural defects. Deregulation of proteins of the transcription machinery may result in perturbations of target genes. Mediator, a multiprotein component of the transcription machinery facilitates the function of RNA polymerase II, which transcribes most human genes. A part of the mediator with kinase activity, called the Mediator kinase module shows genetic alterations in a sub-set of colorectal cancers.METHODSData from publicly available genomic series of colorectal cancer patients were examined to determine alterations of Mediator kinase module component genes, including MED12, MED12L, MED13, MED13L, CDK8, CDK19, and CCNC. The prevalence of alterations in genomically defined colorectal cancer sub-sets was also interrogated. The effect of Mediator kinase module member gene expression on colorectal cancer relapse-free survival was investigated.RESULTSMutations in genes of the Mediator kinase module were present in a small percentage of colorectal cancers, ranging between 2 to 10% for MED12 and MED13 and alternative units MED12L and MED13L and below 2% for kinases CDK8 and CDK19 and cyclin C. Amplifications of the CDK8 gene were observed in 3% to 5% of colorectal cancers. The highest prevalence of mutations was observed in MSI cancers and the equivalent CMS1 group, with other genomic groups showing much lower frequency. An association of higher expression of MED12 with inferior relapse-free survival was observed. In contrast, higher expression of cyclin C was associated with improved survival. Colorectal cancer cell lines with CDK8 amplifications displayed sensitivity to several small molecule inhibitors of the KRAS/PI3K pathway but not to BET inhibitors.CONCLUSIONThe Mediator kinase module is deregulated in a sub-set of colorectal cancers with differences observed in genomically defined groups. These variations may result in differences in sensitivity to targeted therapies and may have to be taken into consideration as such therapies are developed.

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