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Margaret Wallace


Margaret Wallace, Ph.D.
Committee Member of CNG
Professor of UF MGM

Phone: (352) 392-3055
Fax: (352) 273-8284

University of Florida
Dept. of Molecular Genetics & Microbiology
2033 Mowry Rd.
Gainesville, FL. 32610

Neurofibromatosis 1:  A long-term project in the Wallace laboratory (involving numerous collaborators) is the molecular study of neurofibromatosis 1 (NF1), a common dominant condition characterized by localized overgrowth of neural crest tissues.  This condition is caused by mutations in the NF1 tumor suppressor gene (germline and often somatic), a large complex gene whose protein is not well understood.  We are using genetic and cell biology approaches to study this condition, using a large set of patient samples and data.  One focus is the neurofibroma (a benign Schwann cell tumor that can form on any peripheral nerve (including the gut)) and MPNST (malignant transformation of a neurofibroma associated with a large nerve/nerve bundle).  Some other specific tumor-related genes, such as PTEN, TP53, and FAK, are under study at the germline and somatic levels, and we are using cDNA array data to identify novel pathways involved in tumor progression.  Other work planned or underway involves understanding the protein-level result of various mutations, phenotype-genotype correlations (particularly in NF1 microdeletion cases), use of human tumor Schwann cell cultures (some of which we have immortalized) for xenograft testing of drug therapies, searching for epigenetic effects at the NF1 and other loci in tumors, and investigating the role of steroid hormones in NF1.  We have also identified a novel gene, PPP1R10, that cooperates with loss of NF1 in myeloid leukemia, via creation of a knockout mouse.

Other projects:  We have been analyzing genes for mutations related to heritable hereditary heart defects and restrictive/dilated cardiomyopathy, in a number of patient and family samples.  We have also identified novel mutations in SCN9A related to autosomal recessive congenital insensitivity to pain.  The laboratory is also studying multifactorial disorders, conditions that do not always show Mendelian inheritance but have a genetic component.  This work involves detecting genetic polymorphisms that contribute to susceptibility of these conditions, and following up on the underlying mechanisms.  Conditions under study related to pain, through collaborators collecting samples and phenotype data, include fibromyalgia, knee osteoarthritis, oral conditions, and development of chronic pain after thoracotomy (linked with a study of lung cancer in such patients).  Through our own work and via a consortium, we have identified genes related to predisposition to vitiligo (an autoimmune, depigmenting condition that affects 0.5 – 2% of the population).  We are also working with collaborators to understand the contributions of taste receptor (and related) gene variants in taste preference and health conditions related to oral preferences (e.g. head-neck cancer).

Publications extracted from PubMed
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