Article
BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.
The Journal of clinical investigation - 2 Jan 2020
Sieben Cynthia J, Jeganathan Karthik B, Nelson Grace G, Sturmlechner Ines, Zhang Cheng, van Deursen Willemijn H, Bakker Bjorn, Foijer Floris, Li Hu, Baker Darren J, van Deursen Jan M
Abstract excerpt
Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations; increased chromosome missegregation; and a broad spectrum of clinical features, including various cancers, congenital defects, and progeroid pathologies. To investigate the mechanisms underlying this disorder and its phenotypic heterogeneity, we mimicked the BUBR1L1012P mutation...
Topics
- Aging
- Alleles
- Animals
- Cell Cycle Proteins
- Chromosome Disorders
- Lung Neoplasms
- Mice
- Mice, Inbred C57BL
- Mitosis
- Mosaicism
- Mutation