Presenter Information

Angelina CarcioneFollow

Major

Biology

Anticipated Graduation Year

2024

Access Type

Restricted Access

Abstract

Abstract
The Collagen type II alpha 1 (Col2α1) gene, located on chromosome 12 in humans, is an
important factor in the development of cartilage, notochord, skin, floor plate, brain, and heart in
numerous vertebrates. Col2α1a has a highly conserved exon known as exon 2. Exon 2 is solely
utilized during embryogenesis. In exon 2 is a Willebrand Factor domain, more specifically, the
Willebrand Factor Type C (VWF-C) domain. The job of this domain is to regulate the Bone
morphogenetic protein (BMP) found in the extracellular space. BMPs are a family of proteins
that regulate cartilage and bone development in both the embryo and adult. We believe that the
removal of this exon will have a severe impact on the VWF-C factor by completely removing it,
which will most likely have an impact on the development of these embryos. Before that, steps
must be taken before to make sure we are able to use CRISPR. These steps include
overexpressing the VWF-C domain to study its impact of the formation of BMPs and how that
will affect organ formation in the zebrafish. We anticipate that this overexpression will lead to an
increase of BMPs which will subsequently lead to a change in the expression of the notochord
and craniofacial areas. After this crucial step has been executed, we will then move to the main
aspect of our project, the removal of exon 2 via CRISPR-Cas9. Since we expect this removal of
exon 2 to have a severe impact on embryotic formation, we will also be looking for lethality.

Faculty Mentors & Instructors

Dr Rodney Dale

Creative Commons License

Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 License.

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Elucidating the Function of an Evolutionarily Conserved Embryonic Splice Variant of Type II Collagen During Vertebrate Development

Abstract
The Collagen type II alpha 1 (Col2α1) gene, located on chromosome 12 in humans, is an
important factor in the development of cartilage, notochord, skin, floor plate, brain, and heart in
numerous vertebrates. Col2α1a has a highly conserved exon known as exon 2. Exon 2 is solely
utilized during embryogenesis. In exon 2 is a Willebrand Factor domain, more specifically, the
Willebrand Factor Type C (VWF-C) domain. The job of this domain is to regulate the Bone
morphogenetic protein (BMP) found in the extracellular space. BMPs are a family of proteins
that regulate cartilage and bone development in both the embryo and adult. We believe that the
removal of this exon will have a severe impact on the VWF-C factor by completely removing it,
which will most likely have an impact on the development of these embryos. Before that, steps
must be taken before to make sure we are able to use CRISPR. These steps include
overexpressing the VWF-C domain to study its impact of the formation of BMPs and how that
will affect organ formation in the zebrafish. We anticipate that this overexpression will lead to an
increase of BMPs which will subsequently lead to a change in the expression of the notochord
and craniofacial areas. After this crucial step has been executed, we will then move to the main
aspect of our project, the removal of exon 2 via CRISPR-Cas9. Since we expect this removal of
exon 2 to have a severe impact on embryotic formation, we will also be looking for lethality.