864-388-1049 (voice)
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juliejones@ggc.org |
Assistant Director - Molecular Diagnostic Laboratory
- B.S. (Math and Biology), Birmingham Southern College,
Birmingham, AL, 1990
- Ph.D. (Medical Genetics), University of Alabama at
Birmingham, Birmingham, AL, 1998
- Postdoctoral Fellow, Cystic Fibrosis Research Center,
University of Alabama at Birmingham, Birmingham, AL, 1998
-
Research
Fellow, Department of Molecular Physiology and Biophysics, Vanderbilt
University Medical Center, Nashville, TN, 1999-2003
-
Clinical
Fellow, Molecular Diagnostic Laboratory, Greenwood Genetic Center,
Greenwood, SC, 2003-2005
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As Assistant Director of the Molecular Diagnostic Lab, Dr.
Jones is involved in assay development and the daily interpretation of
test results. Currently, she is working on real-time PCR analysis of gene
dosage in Hunter syndrome. Hunter syndrome or mucopolysaccharidosis type
II (MPS II) is an X-linked recessive lysosomal storage disease resulting
from a deficiency of the enzyme iduronate-2-sulfatase (IDS). Features
include short stature, coarse facies, skeletal deformities, stiff joints,
cardiovascular disorders, and in some cases, mental retardation. Molecular
analysis has identified many different types of alterations in the IDS
gene, including small deletions, missense, nonsense, and splice site
mutations. In addition, a variety of techniques have identified large
deletions in a small fraction of cases. Unfortunately, when large
deletions are identified in affected males, it is difficult to determine
whether female relatives are carriers of the deletion. Deletion of one or
more exons of a gene will not usually be detected by sequencing methods
since a normal copy is also present. Real-time PCR is a quantitative
method that overcomes this limitation and enables detection of deletion
carriers.
Dr. Jones’s current research interests include: 1) The
quantitative analysis of methylation status of X-linked mental retardation
genes in autistic males and 2) The assessment of candidate genes for
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects (OEIS complex).
Dr. Jones is board certified by the American Board of
Medical Genetics. She is a member of the American Association for the
Advancement of Science, the American Society of Human Genetics, the
Association for Molecular Pathology, and the American College of Medical
Genetics.
Selected
Publications:
- Jones JR, Shelton KD, Guan Y, Breyer MD,
Magnuson MA. Generation and functional confirmation of a conditional
null PPAR gamma allele in mice. Genesis 32: 134-137, 2002.
- Du M, Jones JR, Lanier J, Keeling KM, Lindsey
JR, Tousson A, Bëbok Z, Whitsett JA, Dey CR, Colledge WH, Evans MJ,
Sorscher EJ, Bedwell DM. Aminoglycoside suppression of a premature stop
mutation in a cftr -/- mouse carrying a human CFTR-G542X transgene.
Journal of Molecular Medicine 80: 595-604, 2002.
- Jones JR, Schwiebert EM, DuVall MD, Venglarik
CJ, Wen H, Braunstein G, Bates E, Maddry JA, Greer H, Sorscher EJ.
Activation of chloride secretion in cystic fibrosis cells and tissues by
the substituted imidazole SRI 2931. Biochemistry 42: 13241-13249, 2003.
- Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE,
Yamada T, MacLeod PJM, Jones JR, Scherer SW, Schanen NC, Friez MJ,
Vincent JB, Minassian BA. A previously unidentified MECP2 open reading
frame defines a new protein isoform relevant to Rett syndrome. Nature
Genetics 36: 339-341, 2004.
- Jones JR, Barrick C, Blondeau B, Shiota M,
Kahn BB, Magnuson MA. Deletion of PPAR gamma in adipose tissues of mice
protects against high fat diet-induced obesity and insulin resistance.
PNAS 102: 6207-6212, 2005.
Book Chapter:
- Jones JR, Shelton KD, Magnuson MA. Strategies
for the use of site-specific recombinases in genome engineering. In:
Methods in Molecular Medicine. G Su, ed. Vol. 103. Pancreatic Cancer.
Humana Press, Totowa, 2004.
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