Characterization of MAD2B and other mitotic spindle checkpoint genes

被引:189
作者
Cahill, DP
da Costa, LT
Carson-Walter, EB
Kinzler, KW
Vogelstein, B
Lengauer, C [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Johns Hopkins Oncol Ctr, Baltimore, MD 21231 USA
[2] Johns Hopkins Univ, Sch Med, Program Human Genet, Baltimore, MD 21231 USA
[3] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21231 USA
关键词
D O I
10.1006/geno.1999.5831
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Aneuploidy is a characteristic of the majority of human cancers, and recent work has suggested that mitotic checkpoint defects play a role in its development. To further explore this issue, we isolated a novel human gene, MAD2B (MAD2L2), which is homologous to the spindle checkpoint gene MAD2 (MAD2L1). We determined the chromosomal localization of it and other spindle checkpoint genes, including MAD1L1, MAD2, BUB3, TTK (MPS1L1), and CDC20. In addition, we resolved the genomic intron-exon structure of the human BUB1 gene. We then searched for mutations in these genes in a panel of 19 aneuploid colorectal tumors. No new mutations were identified, suggesting that genes yet to be discovered are responsible for most of the checkpoint defects observed in aneuploid cancers. (C) 1999 Academic Press.
引用
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页码:181 / 187
页数:7
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