Nucleotide alteration of retinoblastoma protein-interacting zinc finger gene, RIZ, in human leukemia

Osamu Sasaki, Kuniaki Meguro, Yasuo Tohmiya, Tadao Funato, Shigeki Shibahara, Takeshi Sasaki

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


The retinoblastoma protein-interacting zinc finger gene (RIZ) is a zinc-finger type DNA binding protein and is postulated as a member of the nuclear protein-methyltransferase superfamily. RIZ gene encodes for two proteins, RIZ1 and RIZ2. While RIZ1 contains the N-terminal PR (PRDI-BF1 and RIZ homologous)-domain, RIZ2 lacks it. RIZ1 is now considered as a tumor suppressor. We analyzed nucleotide alteration of RIZ gene in human leukemia. The results revealed a single nucleotide polymorphism (SNP), T1704 to A, near the conserved Rb-binding domain, leading to an amino acid change, Asp283 to Glu. Interestingly, 17 of 21 leukemia cell lines are homozygous for the T1704 allele whereas only 2 of 20 normal subjects are homozygous for the allele. In addition, one base pair deletion in the poly (A)9 tract in the coding region near the C-terminal zinc-fingers was identified, resulting in frameshift, in 1 out of 17 leukemia cell lines, but no mutation in samples from 15 patients with acute lymphoblastic leukemia (ALL) and 6 patients with adult T cell leukemia (ATL). In the PR or SH3 (src homology 3) domain of the RIZ gene, no mutation was found. These findings suggest that RIZ may be a possible target of structural alteration leading to leukemia.

Original languageEnglish
Pages (from-to)193-201
Number of pages9
JournalTohoku Journal of Experimental Medicine
Issue number3
Publication statusPublished - 2002


  • Gene mutation
  • Human leukemia
  • RIZ
  • SNP
  • Tumor suppressor gene

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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