Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson B A, Shipley J, Cooper C S
Section of Cell Biology and Experimental Pathology, Haddow Laboratories, Belmont, Sutton, Surrey, UK.
Oncogene. 1996 Jan 18;12(2):229-35.
The specific chromosomal translocation t(9;22)(q22-31;q11-12) has been observed in the myxoid variant of human chondrosarcoma. In agreement with this observation we report that the EWS gene located at chromosome band 22q12 becomes fused to CHN, a member of the steroid/thyroid receptor gene superfamily located at 9q22-31, in a skeletal myxoid chondrosarcoma. CHN appears to be the human homologue of the rat gene NOR1, which was recently identified as a sequence overexpressed in rat brain cells undergoing apoptosis. Our results also indicate that the chimaeric EWS-CHN gene encodes a EWS-CHN fusion protein in which the C-terminal RNA-binding domain of EWS is replaced by the entire CHN protein, comprising a long N-terminal domain, a central DNA binding domain and a C-terminal ligand-binding/dimerisation domain.
在人类软骨肉瘤的黏液样变体中观察到了特定的染色体易位t(9;22)(q22 - 31;q11 - 12)。与此观察结果一致，我们报告在一例骨黏液样软骨肉瘤中，位于染色体22q12带的EWS基因与位于9q22 - 31的类固醇/甲状腺受体基因超家族成员CHN发生了融合。CHN似乎是大鼠基因NOR1的人类同源物，NOR1最近被鉴定为在经历凋亡的大鼠脑细胞中过度表达的一个序列。我们的结果还表明，嵌合的EWS - CHN基因编码一种EWS - CHN融合蛋白，其中EWS的C末端RNA结合结构域被整个CHN蛋白取代，CHN蛋白包括一个长的N末端结构域、一个中央DNA结合结构域和一个C末端配体结合/二聚化结构域。
