Title
Elucidating the Function of an Evolutionarily Conserved COL2α1 Isoform During Vertebrate Development
Date of Award
2022
Degree Type
Thesis
Degree Name
Master of Science (MS)
Department
Biology
Abstract
ABSTRACT
Formation of skeletal structural elements during vertebrate embryogenesis is largely a
conserved evolutionary process that employs numerous conserved genes and pathways. One
critical gene in this process is the highly conserved vertebrate Type II Collagen alpha 1 (col2α1).
It produces multiple splice isoforms that have different functions and expression patterns during
skeletogenesis. Two of the primary isoforms are of great interest; variant 1, the primary
embryonic isoform, and variant 2, a post embryonic isoform. While the more commonly known
post-embryonic isoform has been well studied over the last 30 years, identification of a unique
role for the evolutionarily conserved embryonic isoform has remained elusive, even though some
evidence has suggested its importance during early development. The objective of this study is to
identify whether the highly conserved embryonic isoform of col2α1 which contains a conserved
von Willibrand Factor Type-C (vWFC) domain may serve a role in addition to its known
structural function during development.
To investigate these potential non-structural function(s) of the conserved col2α1 during
embryogenesis, we utilized the model organism Danio rerio, the zebrafish. Other laboratories
have identified in other proteins containing conserved vWFC domain(s) as having a role in
morphogen gradient regulation, specifically in dorsoventral patterning of developing vertebrate
embryos. To investigate this possibility, we executed a three-phased plan to knockout,
overexpress, and knockdown the conserved embryonic isoform that contains the conserved
vWFC domain to determine its requirement during organogenesis. Our results demonstrate thatxii
the knockdown of the embryonic isoform of col2α1 results in abnormalities in formation of
craniofacial cartilage and/or tail/trunk structures beginning at the time that col2α1 becomes
active during embryogenesis and results in some embryos with similar phenotypes and issues
potentially related to dysregulation of TGF-β morphogen gradients.
Recommended Citation
Ingersoll, Charles Lantz H., "Elucidating the Function of an Evolutionarily Conserved COL2α1 Isoform During Vertebrate Development" (2022). Master's Theses. 4414.
https://ecommons.luc.edu/luc_theses/4414
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 License.
Copyright Statement
Copyright © 2021 Charles Lantz H. Ingersoll
