title: The human MLL gene: nucleotide sequence, homology to the Drosophila trx zinc-finger domain, and alternative splicing.
abstract: We have previously reported the cloning of several cDNAs corresponding to the MLL gene. The predicted primary amino acid sequence of two of these clones, 14p-18B and 14-7, reveals nearly complete identity with parts of the sequences of HRX, ALL-1, and Htrx-1, including a Zinc-finger region with homology to the Drosophila trithorax gene. However, we found that there is a stretch of 39 amino acids that is absent from 14p-18B when compared to ALL-1 and HRX. Another sequence of three amino acids is present in ALL-1, but is absent from 14p-18B and HRX. Nucleotide sequence examination reveals that these differences arise from alternative splicing, suggesting that MLL, HRX, and ALL-1 each represents a different alternative splicing product from the same gene. At least two cDNA clones, 14-7 and 14p-18C, correspond to incompletely processed transcripts including intron sequences. Northern blots using a subclone of 14p-18B revealed mRNA species of 14-16 kb in size in various human tissues. RNase protection assays show that the splice variant containing exon 8 and lacking a 9-bp extension 3' of exon 12 is predominantly expressed in hematopoietic cell lines.
authors.affiliation: Section of Hematology and Oncology, University of Chicago, IL 60637, USA.
authors.forename: D
authors.initials: D
authors.lastname: Mbangkollo
authors.forename: R
authors.initials: R
authors.lastname: Burnett
authors.forename: N
authors.initials: N
authors.lastname: McCabe
authors.forename: M
authors.initials: M
authors.lastname: Thirman
authors.forename: H
authors.initials: H
authors.lastname: Gill
authors.forename: H
authors.initials: H
authors.lastname: Yu
authors.forename: J D
authors.initials: JD
authors.lastname: Rowley
authors.forename: M O
authors.initials: MO
authors.lastname: Diaz
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D004330:Drosophila / Q000235:genetics; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008969:Molecular Sequence Data; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes; D012333:RNA, Messenger / Q000235:genetics; D014157:Transcription Factors; D016335:Zinc Fingers / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D012333:RNA, Messenger; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase