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Our findings provide new mechanistic insights into the MED12 functions and indicate that somatic nonsense mutations in early exons may avoid NMD.
With a strong genotype-phenotype correlation that is already known for MED12, this could be a new phenotype linked to MED12, thus expanding the phenotypic spectrum of MED12-related disorders.
The results suggest that MED12 mutations may contribute to chronic lymphocytic leukaemia pathogenesis by activating NOTCH (show NOTCH1 ELISA Kits) signalling.
we investigated several MED12 patients mutations (p.R206Q, p.N898D, p.R961W, p.N1007S, p.R1148H, p.S1165P and p.R1295H) and show that each MED12 mutations cause specific expression patterns of JUN (show JUN ELISA Kits), FOS and EGR1 (show EGR1 ELISA Kits) immediate early (show JUN ELISA Kits) genes (IEGs), reflected by the presence or absence of MED12 containing complex at their respective promoters.
MED12 variants identified in males need to be evaluated carefully for these characteristics, as this severe phenotype may predict a potential risk for phenotypic expression in the heterozygotes. The identification of such a phenotype could influence the interpretation of future whole exome sequencing data and thus genetic counseling.
Current study findings may help to narrow down the number of MED12 mutations to be screened for mediator complex dysfunction associated genetic diseases. This study supports computational methods as a primary filter to verify the plausible impact of pathogenic mutations based on the perspective of evolution, expression and phenotype of proteins.
MED12-mutated adenosarcoma-like tumours might represent a distinct entity that requires more studies for its identification. MED12 exon 2 mutations seemed to have no significant role in other uncommon gynaecological mesenchymal tumours.
role in the regulation of uterine fibroid cell proliferation through the modulation of Wnt (show WNT2 ELISA Kits)/beta-catenin (show CTNNB1 ELISA Kits), cell cycle-associated, and fibrosis-associated protein expression
Somatic MED12 mutations and biallelic FH inactivation are mutually exclusive in both HLRCC (show FH ELISA Kits) syndrome-associated and sporadic uterine leiomyomas. The great majority of HLRCC (show FH ELISA Kits) patients' uterine leiomyomas are caused by FH inactivation, but incidental tumours driven by somatic MED12 mutations also occur.
4.6% of leiomyosarcomas harbored MED12 exon 2 mutations, but the relevance of this association with molecular pathogenesis of leiomyosarcoma remains unknown.
med12 mutants exhibit multiple defects in the development of the epithalamus, including failure of parapineal specification and disruption of cell differentiation and/or maintenance of specific cell types in the pineal organ and the habenula.
The kto/med12 mutation results in specific defects of boundary cell formation in the zebrafish hindbrain
critical targets of TRAP230 function may include proteins important for cell mobility, cell sorting, and tissue assembly
A critical function of the Trap230 subunit is shown for Sox9 (show SOX9 ELISA Kits) as a coactivator; Trap230 also participates in Sox9 (show SOX9 ELISA Kits)-independent transcriptional regulation.
reveal a regulatory role of motionless/Med12 in vertebrate neuronal development
Med12 modulates the ability of Casanova/Sox32 to induce sox17 expression in endodermal development.
Study provide evidence that Med12 regulates neural stem cell gene expression programs linked to adhesion and cell cycle progression but suppresses its adhesion by repressing the expression of cell adhesion molecules.
alterations in MED12-dependent enhancer regulation may control both physiological and malignant hematopoiesis.
The data reveal how the interplay between PRC1 (show PRC1 ELISA Kits), ncRNA and Mediator complexes controls pluripotency and cellular differentiation.
Med1 and Med12, two subunits of the mediator complex implicated in transcription initiation and long-range enhancer/promoter loop formation, are dynamically recruited to the IgH locus enhancers.
leiomyomatous, Med12 c.131G>A variant-expressing uteri developed chromosomal rearrangements.
this work points to Med12 being an essential coregulator of transcription factors controlling neural tube closure.
show that in Med12 hypomorphic embryos, the Wnt (show WNT2 ELISA Kits)/planar cell polarity pathway is disrupted and that canonical Wnt (show WNT2 ELISA Kits)/beta-catenin (show CTNNB1 ELISA Kits) signaling is impaired.
Nanog (show NANOG ELISA Kits) and Med12 function in concert to regulate Nanog (show NANOG ELISA Kits) target genes and identify a novel role for Med12 in embryonic stem cell regulation.
The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome.
mediator of RNA polymerase II transcription, subunit 12 homolog
, CAG repeat protein 45
, OPA-containing protein
, activator-recruited cofactor 240 kDa component
, human opposite paired
, mediator of RNA polymerase II transcription subunit 12
, putative mediator subunit 12
, thyroid hormone receptor-associated protein complex 230 kDa component
, thyroid hormone receptor-associated protein, 230 kDa subunit
, trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)
, trinucleotide repeat-containing gene 11 protein
, trinucleotide repeat containing 11
, mediator complex subunit 12
, protein kohtalo
, protein motionless
, thyroid hormone receptor-associated protein 230
, thyroid hormone receptor-associated protein complex component TRAP230
, OPA-containing protein 1
, trinucleotide repeat containing 11 (THR-associated protein)