ARID1A

(redirected from BAF250a)

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 ?
Loss of BAF250a expression was seen in 42% of the ovarian clear cell carcinoma samples and 21% of the endometrioid carcinoma samples, compared with just 1% of the high-grade serous carcinoma samples.
ARID1A, which encodes the BAF250A tumor suppressor, is somatically mutated in 40% of low-grade endometrioid endometrial carcinomas [reviewed in (24)].
Increased amounts of the cell cycle proteins cyclin E and p16, amplification and overexpression of the ERBB2 [v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2] gene (which encodes the ERBB2 receptor tyrosine kinase), loss of BAF250A production, and altered amounts of the cell adhesion proteins claudin-3, claudin-4, L1CAM (L1 cell adhesion molecule), EpCAM (epithelial cell adhesion molecule), and E-cadherin have also been documented [reviewed in (24)].