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 ?
For example, significant differences have been noted in the frequencies of mutations among the ARID1A, PTEN, PIK3CA, PPP2R1A (protein phosphatase 2, regulatory subunit A, alpha), TP53, and CTNNB1 genes in low-grade endometrioid endometrial carcinoma, high-grade endometrioid endometrial carcinoma, serous endometrial carcinoma, and endometrial carcinosarcomas, and the pattern of mutations in this 6-gene set has facilitated the histologic reclassification of some endometrial tumors (58).
In the current study, Hogarty and colleagues identified alterations in two genes, ARID1A and ARID1B, neither of which had previously been reported to be involved in neuroblastoma.
Lab experiments demonstrated the importance of these two genes in driving stomach cancer, as manipulation of FAT4 and ARID1A function altered the growth of stomach cancer cells.
Mutations in two genes, ARID1A and PPP2R1A, appear to be linked to ovarian clear cell carcinoma, one of the most aggressive forms of ovarian cancer, investigators reported.
ARID1A mutations were identified in more than half of tumours studied, and, according to Sian Jones, research associate at the Johns Hopkins Kimmel Cancer Center, "this gene may play a significant role in this type of cancer.