Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q)

Genomics. 2001 Jan 15;71(2):235-45. doi: 10.1006/geno.2000.6414.


Loss of a whole chromosome 5, or a del(5q), are recurring abnormalities in malignant myeloid diseases. In previous studies, we defined a commonly deleted segment (CDS) of 1.5 Mb between D5S479 and D5S500 in patients with a del(5q), and we established a P1 artificial chromosome-based contig encompassing this interval. To identify candidate tumor suppressor genes (TSGs), we developed a transcript map of the CDS. The map contains 18 genes and 12 expressed sequence tags/UniGenes. Among the 18 genes are 10 genes that were previously cloned and 8 novel genes. The newly identified genes include CDC23, which encodes a component of the anaphase-promoting complex; RAB6KIFL, which encodes a kinesin-like protein involved in organelle transport; and KLHL3, which encodes a human homologue of the Drosophila ring canal protein, kelch. We determined the intron/exon organization of 14 genes and eliminated each gene as a classical TSG by mutation analysis. In addition, we established a single-nucleotide polymorphism map as well as a map of the mouse genome that is syntenic to the CDS of human 5q31. The development of a transcription map will facilitate the molecular cloning of a myeloid leukemia suppressor gene on 5q.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acute Disease
  • Adaptor Proteins, Signal Transducing
  • Animals
  • Apc8 Subunit, Anaphase-Promoting Complex-Cyclosome
  • Carrier Proteins / genetics
  • Cell Cycle Proteins / genetics
  • Chromosome Deletion*
  • Chromosomes, Artificial, Human
  • Chromosomes, Human, Pair 5 / genetics*
  • DNA Mutational Analysis
  • Gene Library
  • Genes, Tumor Suppressor
  • Humans
  • Kinesins / genetics
  • Leukemia, Myeloid / genetics*
  • Mice
  • Microfilament Proteins
  • Molecular Sequence Data
  • Myelodysplastic Syndromes / genetics*
  • Physical Chromosome Mapping*


  • Adaptor Proteins, Signal Transducing
  • Apc8 Subunit, Anaphase-Promoting Complex-Cyclosome
  • CDC23 protein, human
  • Carrier Proteins
  • Cell Cycle Proteins
  • KIF20A protein, human
  • KLHL3 protein, human
  • Microfilament Proteins
  • Kinesins

Associated data

  • GENBANK/AF251041