Kanbe T, Nobukuni T, Kawasaki H, Sekiya T, Murakami Y
Tumor Suppression and Functional Genomics Project, National Cancer Center Research Institute, Tokyo, Japan.
J Hum Genet. 2001;46(3):150-1. doi: 10.1007/PL00010920.
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.
在人类BUB1基因中发现了四个单核苷酸多态性，该基因编码一种参与有丝分裂纺锤体检查点的激酶。外显子10中对应于密码子375（c.1124C>T）的胞嘧啶到胸腺嘧啶的变化，导致丝氨酸被苯丙氨酸取代的氨基酸替换。外显子4中的鸟嘌呤/胞嘧啶多态性（c.279G>C）和外显子12中的胸腺嘧啶/胞嘧啶多态性（c.1293T>C）不会导致氨基酸替换。另一个胸腺嘧啶/胞嘧啶多态性（IVS9-8T>C）位于外显子10上游8bp处。由于在一部分人类癌症中报道了hBUB1基因的突变，这些多态性可为各种人类癌症易感性的遗传研究提供有用的工具。
