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Journal of Undergraduate Research

Keywords

FG enhancer, Col11a2 gene, collagen, protein, cartilage disease

College

Life Sciences

Department

Microbiology and Molecular Biology

Abstract

Collagen is the most abundant protein found in the human body and is responsible for the development of bone and cartilage. The Col11a2 gene is one of the many genes that participate in the formation of collagen. Mutations in this gene can cause a variety of cartilage diseases and disorders such as cleft palate, hearing loss, osteoarthritis, and perhaps even prenatal lethal chondrodysplasia. Arthritis alone is “the leading cause of work-related disability and the leading cause of disability in persons >65 years in the United States”.i The deadly effects of these mutations warrant a more in-depth study of the Col11a2 gene. To determine how the gene is controlled, Dr. Bridgewater’s laboratory performed mutational analysis along the length of the entire gene. Results showed remarkably decreased levels of activity when three locations are mutated; these regions were named ABC, DE, and FG. These areas of decreased activity must be enhancer elements that regulate the transcription of the Col11a2 gene. The research I propose to carry out is that of identifying the transactivating proteins that bind specifically to the FG enhancer element, using electrophoresis, affinity chromatography, and mass spectrometry techniques.

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