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Wednesday 30 January 2008

Protein capicua homolog


Definition: CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t(4;19)(q35;q13).

Molecular biology

- CIC-DUX4 fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (16717057) in Ewing-like sarcoma

- CIC-rearranged undifferentiated round-cell sarcoma with exclusive spindled morphology and diffuse CD99 positivity: a potential pitfall. doi : 10.1111/his.13051

- CIC-rearranged undifferentiated small round cell sarcoma in the cerebrum. doi : 10.1002/dc.23520

- CIC mutation in angiosarcoma

- CIC-NUTM2A fusion gene in small round cell sarcoma

See also

- D4Z4


- Kawamura-Saito M, Yamazaki Y, Kaneko K, Kawaguchi N, Kanda H, Mukai H, Gotoh T, Motoi T, Fukayama M, Aburatani H, Takizawa T, Nakamura T. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet. 2006 Jul 1;15(13):2125-37. PMID: 16717057