Clinical and Molecular Consequences of NF1 Microdeletion
Abstract
We have developed rapid and sensitive assays for the detection and mapping of both the common 1.4 Mb NF1 microdeletion and novel microdeletions; our subjects carrying microdeletions have contributed to diverse collaborations including development of a mouse model of plexiform neurofibroma tunorigenesis and the conservation of recombination hotspots. Our hypothesis that genome instability occurs during NF1-tumorigenesis continues to be supported by our findings. First, somatic instability leading to uniparental isodisomy and homozygous NF1 inactivation in NF1-related leukemias, which add to our understanding of leukemogenesis and identifies chromsomal regions were somatic recombination may be favored. Second, we localized neurofibromin to the centrosome in normal and malignant epithelial cells. Third, our preliminary observations show that centrosomes appear abnormal in NF1-derived neurofibromas, suggesting a potential new function for neurofibromin in normal centrosome function and in maintaining genome stability.
Document Details
- Document Type
- Technical Report
- Publication Date
- May 01, 2007
- Accession Number
- ADA471858
Entities
People
- Karen Stephens
Organizations
- University of Washington