Human pathology

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t(6;22)(p21;q12)

The t(6;22)(p21;q12) translocation associated with human bone and soft-tissue tumors results in a chimeric molecule fusing the amino terminal domain (NTD) of the EWS gene to the carboxy terminal domain (CTD) of the Oct-4 embryonic gene (POU5F1). The fusion of the EWS amino terminal domain to the Oct-4 DNA binding domain produces a transforming chimeric product.

References

- Lee J, Kim JY, Kang IY, Kim HK, Han YM, Kim J. The EWS-Oct-4 fusion gene encodes a transforming gene. Biochem J. 2007 Jun 12; PMID: 17564582