Article
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy.
Human genetics - 1 Dec 2008
Bohers Elodie, Sarafan-Vasseur Nasrin, Drouet Aurélie, Paresy Marianne, Latouche Jean-Baptiste, Flaman Jean-Michel, Sesboüé Richard, Frebourg Thierry
Abstract excerpt
Biallelic and heterozygous mutations of the BUB1B gene have been reported in mosaic variegated aneuploidy (MVA), a rare disorder characterized by constitutional mosaic aneuploidies associated to severe intrauterine growth retardation, microcephaly and, in most cases, to premature chromatid separation (PCS), highlighting the key role of human BUBR1 in chromosome segregation. To study the consequences of gradual...
Topics
- Alleles
- Aneuploidy
- Base Sequence
- Cell Cycle
- Cell Line
- Gene Dosage
- HeLa Cells
- Humans
- Molecular Sequence Data
- Mosaicism
- Mutation