Four single-nucleotide polymorphisms in the human BUB1 gene.

T Kanbe; T Nobukuni; H Kawasaki; T Sekiya; Y Murakami

doi:10.1007/pl00010920

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Four single-nucleotide polymorphisms in the human BUB1 gene.

T Kanbe·T Nobukuni·H Kawasaki·T Sekiya·Y Murakami

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Abstract

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.

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Alleles Amino Acid Substitution Base Sequence Chromosomes, Human, Pair 2 DNA Primers Gene Frequency Humans Neoplasms Polymerase Chain Reaction Polymorphism, Single Nucleotide Protein Kinases Protein Serine-Threonine Kinases Journal Article Research Support, Non-U.S. Gov't

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T Kanbe, T Nobukuni, H Kawasaki, T Sekiya, Y Murakami. 2001. Four single-nucleotide polymorphisms in the human BUB1 gene.. https://doi.org/10.1007/pl00010920

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