2013 Student Research Conference:
26th Annual Student Research Conference

Methylation Status of Type I Collagen Gene Promoters in Four Month Old Myostatin Deficient Male and Female Offspring
Aaron M. Kusmec* and Arin D. Kettle
Dr. Kristen H. Taylor (University of Missouri), Dr. Charlotte L. Phillips (University of Missouri), and Dr. Brent Buckner, Faculty Mentors

Osteogenesis imperfecta is a genetic disorder primarily caused by type I collagen gene mutations resulting in bone deformation and fragility and modeled in the oim mouse. Since bone is inherently mechanosensitive, it was previously hypothesized that reducing expression of the negative skeletal muscle regulator myostatin (mstn) could improve bone biomechanical properties in oim mice. Unexpectedly, the femoral biomechanical properties and hydroxyproline content of 4 month old male oim heterozygous (+/oim) offspring from +/mstn dams were significantly reduced compared to genetically identical males from +/oim dams. This suggested a possible intrauterine or epigenetic mechanism for the decrease in collagen content observed with myostatin deficiency. We hypothesized that this decrease is caused by alterations in CpG methylation sites and confirmed the presence of methylation in the col1a2 promoter using combined bisulfite restriction analysis (COBRA).

Keywords: osteogenesis imperfecta, epigenetics, DNA methylation

Topic(s):Biology

Presentation Type: Poster

Session: 2-4
Location: GEO
Time: 3:30

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