Characterization of MAD2B and other mitotic spindle checkpoint genes

Daniel P. Cahill, Luis T. Da Costa, Eleanor B. Carson-Walter, Kenneth W. Kinzler, Bert Vogelstein, Christoph Lengauer

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)181-187
Number of pages7
JournalGenomics
Volume58
Issue number2
DOIs
StatePublished - Jun 1 1999

ASJC Scopus subject areas

  • Genetics

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