Journal article
A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis and frontotemporal degeneration, v 15(7-8), pp 588-600
Dec 2014
PMID: 25008789
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Abstract
Amyotrophic lateral sclerosis is a late-onset degenerative disease affecting motor neurons in the spinal cord, brainstem, and motor cortex. There is great variation in the expression of ALS symptoms even between siblings who both carry the same Cu/Zn superoxide dismutase (SOD1) mutations. One important use of transgenic mouse models of SOD1-ALS is the study of genetic influences on ALS severity. We utilized multiple inbred mouse strains containing the SOD1-G93A transgene to demonstrate a major quantitative trait locus (QTL) on mouse chromosome 17 resulting in a significant shift in lifespan. Reciprocal crosses between long- and short-lived strains identified critical regions, and we have narrowed the area for potential genetic modifier(s) to < 2Mb of the genome. Results showed that resequencing of this region resulted in 28 candidate genes with potentially functional differences between strains. In conclusion, these studies provide the first major modifier locus affecting lifespan in this model of FALS and, once identified, these candidate modifier genes may provide insight into modifiers of human disease and, most importantly, define new targets for the development of therapies.
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Details
- Title
- A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis
- Creators
- Roger B. Sher - University of MaineTerry D. Heiman-Patterson - Drexel UniversityElizabeth A. Blankenhorn - Drexel UniversityJuliann Jiang - Drexel UniversityGuillermo Alexander - Drexel UniversityJeffrey S. Deitch - Drexel UniversityGregory A. Cox - Jackson Laboratory
- Publication Details
- Amyotrophic lateral sclerosis and frontotemporal degeneration, v 15(7-8), pp 588-600
- Publisher
- Informa Healthcare
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Microbiology and Immunology; [Retired Faculty]
- Web of Science ID
- WOS:000346926100018
- Scopus ID
- 2-s2.0-84914676843
- Other Identifier
- 991019168767804721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology