Article
Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation.
PLoS genetics - 1 Jan 2012
Wijshake Tobias, Malureanu Liviu A, Baker Darren J, Jeganathan Karthik B, van de Sluis Bart, van Deursen Jan M
Abstract excerpt
Mosaic Variegated Aneuploidy (MVA) syndrome is a rare autosomal recessive disorder characterized by inaccurate chromosome segregation and high rates of near-diploid aneuploidy. Children with MVA syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, short stature, and cataracts. The majority of MVA cases are linked to mutations in BUBR1, a mitotic checkpoint gene...
Topics
- Aging
- Alleles
- Animals
- Cell Cycle Proteins
- Chromosome Disorders
- Humans
- Longevity
- Mice
- Mice, Transgenic
- Mosaicism
- Mutation
- Phenotype