Science + Tech

Student researches a transgene mutation in mice that causes cleft palate deformities

During college I began working in dental research as a lab assistant for Dr. Eric Everett at the UNC School of Dentistry. I quickly realized that I wanted to continue being a part of the discovery process associated with research. During this time in college, I was also involved in planning the “Cleft Palate Gallop 5K,” a race held every year to raise funds for the UNC Craniofacial Center. Working with the Craniofacial Center and witnessing the extensive treatment that must be performed for cleft palate patients inspired me to begin research in this field. Prior to beginning dental school, I initiated a project in the Everett Lab that involved examining a gene mutation which manifests in cleft palate and other craniofacial and skeletal abnormalities.

Cleft palate is a common birth defect occurring in 1 in 2,000 births. About half of the babies born with cleft palate have additional abnormalities and can be syndromic. My project investigated a transgene insertion mutant mouse line (OVE1226b), which exhibits cleft palate, short limbs, and craniofacial dysmorphology as an autosomal recessive trait. Previous work determined that the transgene complex resides in an intergenic region near the 3’ end of collagen, type XI, alpha 1 (Col11a1) on chromosome 3. The goal of my project was to characterize more fully the phenotype in OVE1226b mice and investigate the expression of Col11a1 RNA and COL11A1 protein. My project was supported by an NIH grant (DE015180) and a 2012 AADR Student Research Fellowship.

Over a period of three years, I used a variety of analytical methods including microCT, skeletal staining, histology, quantitative real-time PCR, and Northern and Western blotting in order to examine Col11a1 gene expression in the OVE1226b line of mice. I found that the OVE1226b cleft palate mouse recapitulates phenotypic features seen in cho/cho (chrondrodysplasia) mice. The cho/cho mouse carries a single nucleotide deletion in the Col11a1 gene and results in the absence of COL11A1 protein; OVE1226b cleft palate mice present with a comparable phenotype to cho/cho, however express about 40% of COL11A1 compared to wildtype. This demonstrates that reduced expression of COL11A1 is sufficient to interfere with normal fibrillogenesis. COL11A1 mutations in humans are associated with Stickler and Marshall syndromes, and some cases of Pierre Robin sequence.

Over the past few years I have had several opportunities to present my research locally, nationally, and internationally. I presented my initial results at the 2012 AADR Annual Meeting in Tampa, Florida and was selected to receive an AADR Student Research Fellowship which allowed me to continue my research. I represented UNC in the ADA/DENTSPLY Student Clinician Research Program at the 2012 ADA Annual Meeting in San Francisco. I presented my final results this past spring in the AADR Johnson & Johnson Healthcare Hatton Competition, in which I was awarded second place. Receiving this award supported my participation in the IADR Unilever Hatton Competition in Cape Town, South Africa. Attending the IADR Meeting allowed me to interact with researchers from around the world. This past summer I also received a Colgate Research Award from the American Association of Women Dentists. I am currently working on submitting my manuscript for publication. Partaking in dental research has been extremely rewarding during my dental education and I intend to continue my involvement with research by entering the field of academics after graduation.

Congratulations to Lauren on her accomplishments and numerous recognitions for her research! Are you doing research or are a part of a research team? Email [email protected] to be featured in our monthly Student Research Spotlight!

~Lauren Katz, North Carolina ’15

Lauren Katz

Lauren is a fourth year dental student at the University of North Carolina School of Dentistry. She has been active in dental research since she was an undergraduate student at UNC. Next year, Lauren will begin advanced training in prosthodontics at the UNC School of Dentistry, where she plans on continuing her involvement with research.

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