The protein-coding sequence of this transgene was amplified from a fusion transcript that is expressed in patients with myeloid leukemias characterized by the t(7;11)(p15;p15) chromosomal translocation. The transcript, derived from the in-frame joining of the 141 bp 5' exon of NUP98 to exon 1B of HOXA9, generates a chimeric protein comprising the amino terminal half of NUP98, containing the phenylalanine-glycine (FG) repeat region, followed by most of HOXA9 including its homeodomain. The cDNA was inserted at the transcription start site of the human cathepsin G (CTSG) gene in an expression cassette containing the entire CTSG genomic sequence, including ~2.5 kb of 5' and ~0.8 kb of 3' flanking DNA, which drives expression exclusively in cells of the myeloid lineage. RT-PCR analysis detects transcripts derived from the transgene only in bone marrow and spleen. (J:47502, J:96544, J:142951)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count