Four single-nucleotide polymorphisms in the human BUB1 gene

T. Kanbe, T. Nobukuni, H. Kawasaki, T. Sekiya, Y. Murakami

Research output: Contribution to journalArticlepeer-review


Four single-nucleotide polymorphisms have been found in the human BUB1 gene, which encodes a kinase involved in the mitotic spindle checkpoint. A cytosine-to-thymine change in exon 10, corresponding to codon 375 (c.1124C>T), causes an amino acid substitution of serine to phenylalanine. A guanine/cytosine polymorphism in exon 4 (c.279G>C) and a thymine/cytosine polymorphism in exon 12 (c.1293T>C) do not cause amino acid substitution. The other polymorphism, of thymine/cytosine (IVS9-8T>C), is found at 8bp upstream of exon 10. As mutations of the hBUB1 gene were reported in a subset of human cancers, these polymorphisms could provide useful tools for the genetic study of susceptibility to various human cancers.

Original languageEnglish
Pages (from-to)150-151
Number of pages2
JournalJournal of Human Genetics
Issue number3
Publication statusPublished - 2001
Externally publishedYes


  • Amino acid substitution
  • Cancer susceptibility
  • Chromosome 2q14
  • Polymorphism
  • hBUB1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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