ARID1A


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Related to ARID1A: ARID1B

ARID1A

A gene on chromosome 1p36.1-p35 that encodes AT-rich interactive domain-containing protein 1, which is highly expressed in the spleen, thymus, prostate, testes, ovaries, small intestine, colon and peripheral leukocytes. ARID1A is involved in transcriptional activation and repression of select genes by chromatin remodelling (by altering DNA-nucleosome topology). It is also involved in vitamin D-coupled transcription regulation by associating with the WINAC complex, a chromatin-remodelling complex recruited by vitamin D receptor.

ARID1A belongs to the neural progenitors-specific chromatin remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, which are involved in switching developing neurons from stem/progenitors to post-mitotic chromatin remodelling as they exit the cell cycle and become committed to their adult state.

Molecular pathology
Defects in ARID1A cause mental retardation autosomal dominant type 14.
References in periodicals archive ?
ARID1A mutations were observed in 55 of 119 ovarian clear cell carcinoma (46%), 10 of 33 endometrioid carcinomas (30%), and none of the 76 high-grade serous ovarian carcinomas.
27) There is a strong correlation between loss of ARID1A expression and DNA mismatch repair deficiency in carcinomas involving the stomach and colon, suggesting that ARID1A loss may be a secondary phenomenon related to impaired DNA repair and not a primary driver of carcinogenesis.
The association between ARID1A loss and DNA mismatch repair protein deficiency has been reported in gastric, colorectal, and Mullerian adenocarcinomas and shows some interesting site-specific correlations.
Loss of ARID1A has been shown in precursor lesions adjacent to carcinomas at various sites, (37,38) suggesting that it is an early event in carcinogenesis.
Secondly, we used primary resections to ensure we had adequate tissue material to evaluate ARID1A expression in EAC and in background columnar mucosa.
In summary, loss of ARID1A expression is seen in about 10% (12 of 120) of EACs, and most of those tumors show features similar to those described in MSI-H colorectal carcinomas.
Promoter hypermethylation of ARID1A gene is responsible for its low MRNA expression in many invasive breast cancers.
Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.
Mutation and loss of expression of ARID1A in uterine low-grade endometroid carcinoma.
ARID1A loss correlates with mismatch repair deficiency and intact p53 expression in high-grade endometrial carcinomas.
Loss of ARID1A expression in colorectal carcinoma is strongly associated with mismatch repair deficiency.
ARID1A expression in gastric adenocarcinoma: Clinicopathological significance and correlation with DNA mismatch repair status.