title: Four single-nucleotide polymorphisms in the human BUB1 gene.
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.
authors: Tumor Suppression and Functional Genomics Project, National Cancer Center Research Institute, Tokyo, Japan.
authors: T
authors: T
authors: Kanbe
authors: T
authors: T
authors: Nobukuni
authors: H
authors: H
authors: Kawasaki
authors: T
authors: T
authors: Sekiya
authors: Y
authors: Y
authors: Murakami
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D009369:Neoplasms / Q000201:enzymology / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases
chemical_list: D017931:DNA Primers; D011494:Protein Kinases; C584277:BUB1 protein, human; C090464:Bub1 spindle checkpoint protein; D017346:Protein Serine-Threonine Kinases