Julie R. Jones, Ph.D.

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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

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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