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Application Note: For IHC, epitope retrieval with citrate buffer pH 6.0 is recommended for FFPE tissue sections.
The human AF9 gene is one of the most common fusion partner genes with the ALL1 gene at 11q23 (also called MLL), resulting in the t(9;11)(p22;q23). The AF9 gene is more than 100 kb, and 2 patient breakpoint cluster regions (BCRs) have been identified; BCR1 is within intron 4, previously called site A, whereas BCR2 or site B spans introns 7 and 8. Several different structural elements have been identified in AF9, including a colocalizing in vivo DNA topo II cleavage site and an in vitro DNase I hypersensitive (DNase 1 HS) site in intron 7 in BCR2. Reversibility experiments demonstrated a religation of the topo II cleavage sites. In addition, 2 scaffold associated regions (SARs) are located centromeric to the topo II and DNase I HS cleavage sites and border breakpoint regions in 2 leukemic cells lines: SAR1 is located in intron 4, whereas SAR2 encompasses parts of exons 5-7. The patient breakpoint regions of AF9 share the same structural elements as the MLL BCR. A DNA breakage and repair model for nonhomologous recombination between MLL and its partner genes, particularly AF9, has been proposed.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: AF-9 protein; ALL1-fused gene from chromosome 9 protein; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3; Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein; myeloid/lymphoid or mixed-lineage leukemia; translocated to 3; myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3; Protein AF-9; YEATS domain-containing protein 3
Gene Aliases: AF9; MLLT3; YEATS3
UniProt ID: (Human) P42568
Entrez Gene ID: (Human) 4300
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