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.
journal_name
Genomicsjournal_title
Genomicsauthors
Cahill DP,da Costa LT,Carson-Walter EB,Kinzler KW,Vogelstein B,Lengauer Cdoi
10.1006/geno.1999.5831subject
Has Abstractpub_date
1999-06-01 00:00:00pages
181-7issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(99)95831-7journal_volume
58pub_type
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