Collagen Type XI in Zebrafish Axial Skeletal Development
Type of Culminating Activity
Master of Science in Biology
Julia Thom Oxford
Autosomal dominant chondrodystrophies, Stickler syndrome type 2 and Marshall syndrome are characterized by facial abnormalities, eye defects, hearing loss, and joint problems caused by mutations in COL11A1. To study the functional role of COL11A1 in craniofacial and axial skeleton development, a knockdown of this gene was performed in zebrafish. The expression of col1 1a1 isoforms begins at ten and one-third hours post fertilization and continues to be expressed through adulthood. Although multiple splice forms were present, we observed that exons 6A and 8 were the predominant splice forms of col1 1a1 in zebrafish. A knockdown experiment of col1 1a1 revealed abnormalities of Meckel's cartilage, the otoliths of the inner ear, defects of the notochord, shortening of the total body length, and an increased mortality at 72 hours post fertilization. Knockdown of exon 6A produced the most severe effects in zebrafish. The results of these experiments provide evidence that col1 1a1 is essential for normal zebrafish development. Similarities exist between the findings reported here and the human birth defects such as Stickler syndrome type 2 and Marshall syndrome and in the experimental model, the chondrodystrophic mouse (cho/cho). Zebrafish provide an animal model with which to investigate the mechanisms of human chondrodystrophies and to establish potential treatments.
Adams, Jason Samuel, "Collagen Type XI in Zebrafish Axial Skeletal Development" (2008). Boise State University Theses and Dissertations. 663.