(Runt-Related Transcription Factor 1, Translocated To, 1 (Cyclin D-Related) (RUNX1T1))
This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8\;21)(q22\;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010].
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Hoet, Cohen, Kent, Rookey, Schoonbroodt, Hogan, Rem, Frans, Daukandt, Pieters, van Hegelsom, Neer, Nastri, Rondon, Leeds, Hufton, Huang, Kashin, Devlin, Kuang, Steukers, Viswanathan, Nixon, Sexton et al.: "Generation of high-affinity human antibodies by combining donor-derived and synthetic complementarity-determining-region diversity. ..." in: Nature biotechnology, Vol. 23, Issue 3, pp. 344-8, (2005) (PubMed).
Martinez, Drescher, Riehle, Cullmann, Vornlocher, Ganser, Heil, Nordheim, Krauter, Heidenreich: "The oncogenic fusion protein RUNX1-CBFA2T1 supports proliferation and inhibits senescence in t(8;21)-positive leukaemic cells." in: BMC cancer, Vol. 4, pp. 44, (2004) (PubMed).
Zeeman, Stoop, Boter, Gillis, Castrillon, Oosterhuis, Looijenga: "VASA is a specific marker for both normal and malignant human germ cells." in: Laboratory investigation; a journal of technical methods and pathology, Vol. 82, Issue 2, pp. 159-66, (2002) (PubMed).