What is SMARCA4 mutation?

What is SMARCA4 mutation?

Approximately 40 variants (also known as mutations) in the SMARCA4 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse.

How does BRG1 work?

BRG1 is required to drive the expression of numerous prostate cancer specific genes in an AR/FOXA1 dependant manner, but also works independently to drive the expression of pro-proliferative and DNA replication genes.

Is SMARCA4 hereditary?

Mutations in the SMARCA4 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a SMARCA4 mutation have a 1 in 2 (50%) chance of having the mutation as well.

What is SMARCA4 deficient thoracic sarcoma?

SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with a poor prognosis that is defined by certain genetic alterations in the BAF chromatin remodeling complex, specifically SMARCA4 and SMARCA2.

What does BRG1 stand for?

Brahma-related gene-1 (BRG1), the central catalytic subunit of numerous chromatin-modifying enzymatic complexes, uses the energy derived from ATP-hydrolysis to disrupt the chromatin architecture of target promoters.

How does SWI SNF work?

The SWI/SNF subfamily provides crucial nucleosome rearrangement, which is seen as ejection and/or sliding. The movement of nucleosomes provides easier access to the chromatin, allowing genes to be activated or repressed.

What gene is SMARCB1?

The SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling.

What is SMARCB1 gene mutation?

Mutations in the SMARCB1 gene are involved in several human tumor-predisposing syndromes. They were established as an underlying cause of the tumor suppressor syndrome schwannomatosis in 2008. There is a much higher rate of mutation detection in familial disease than in sporadic disease.

Does SMARCA4 act as a tumor suppressor?

We demonstrate that Smarca4 acts as a bona fide tumor suppressor and cooperates with p53 loss and Kras activation. Gene expression analyses revealed the signature of enhanced oxidative phosphorylation (OXPHOS) in SMARCA4 mutant tumors.

Is SMARCA4 a target of TRβ-mediated gene expression?

The chromatin ATPase brahma-related gene 1 (BRG1; SMARCA4), a key component of chromatin-remodeling complexes, is altered in many cancers, but its role in thyroid tumorigenesis and TRβ-mediated gene expression is unknown. We previously identified the oncogene runt-related transcription factor 2 (RUNX2) as a repressive target of TRβ.

What is the prevalence of SMARCA4 mutations in lung tumors?

Somatic point mutations of the SMARCA4 gene are present in a small subset of lung tumors. majority of tumor lines with germ line defects in BRG-1 were sensitive to RB-mediated cell cycle arrest

Are SMARCA4 SNPs associated with coronary heart disease development?

SMARCA4 SNPs are associated with coronary heart disease development in Chinese Han population. BRG1 may contribute to colon cancer progression through upregulating WNT3A expression.