Bone dysplasia’s affect every 1 in 5,000 babies; most of these dysplasia’s are incurable, and some are even lethal (Stembalska et al., 2021). Hundreds of skeletal dysplasia’s are heritable, yet the genes involved are not well defined (Krakow, 2015). Most of the skeleton forms through a process called endochondral ossification (EO). There are three parts of EO: chondrogenesis, maturation, and ossification. During chondrogenesis, mesenchymal progenitor cells condense and then differentiate into chondrocytes. After differentiation, chondrocytes will elongate, then proliferate and mature to set up for primary ossification. We know that this process happens through many activated genes, but the sequential steps through which this is achieved has yet to be elucidated. In order to understand the cause of skeletal dysplasia’s and find new treatments, the molecular mechanisms controlling EO requires further investigation.
This study focuses on one gene, CXXC1 Finger Protein, Cfp1, and its role in chondrocyte maturation during skeletal mouse development. Cfp1 was specifically deleted in chondrocytes, and the resultant effects on cartilage and bone were analyzed. A mild phenotype was observed in the knockout mouse model. It was found that loss of Cfp1 in chondrocytes leads to delayed ossification in the vertebrae, tibias, metatarsals, and metacarpals. Therefore, Cfp1 is necessary for normal chondrocyte maturation.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/48158 |
| Date | 20 February 2024 |
| Creators | DeMaio, Katelyn |
| Contributors | Symes, Karen, Carlone, Diana L. |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
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