PUBLICATION
Col11a1a Expression Is Required for Zebrafish Development
- Authors
- Hardy, M.J., Reeck, J.C., Fang, M., Adams, J.S., Oxford, J.T.
- ID
- ZDB-PUB-200904-1
- Date
- 2020
- Source
- Journal of developmental biology 8(3): (Journal)
- Registered Authors
- Hardy, Makenna, Oxford, Julia
- Keywords
- Col11a1a, Marshall syndrome, Stickler type 2 syndrome, alternative splicing, collagen, fibrochondrogenesis, minor fibrillar collagen, zebrafish
- MeSH Terms
- none
- PubMed
- 32872105 Full text @ J Dev Biol
Citation
Hardy, M.J., Reeck, J.C., Fang, M., Adams, J.S., Oxford, J.T. (2020) Col11a1a Expression Is Required for Zebrafish Development. Journal of developmental biology. 8(3):.
Abstract
The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and articular joint issues resulting from mutations in COL11A1. Zebrafish carry two copies of the Col11a1 gene, designated Col11a1a and Col11a1b. Col11a1a is located on zebrafish chromosome 24 and Col11a1b is located on zebrafish chromosome 2. Expression patterns are distinct for Col11a1a and Col11a1b and Col11a1a is most similar to COL11A1 that is responsible for human autosomal chondrodystrophies and the gene responsible for changes in the chondrodystrophic mouse model cho/cho. We investigated the function of Col11a1a in craniofacial and axial skeletal development in zebrafish using a knockdown approach. Knockdown revealed abnormalities in Meckel's cartilage, the otoliths, and overall body length. Similar phenotypes were observed using a CRISPR/Cas9 gene-editing approach, although the CRISPR/Cas9 effect was more severe compared to the transient effect of the antisense morpholino oligonucleotide treatment. The results of this study provide evidence that the zebrafish gene for Col11a1a is required for normal development and has similar functions to the mammalian COL11A1 gene. Due to its transparency, external fertilization, the Col11a1a knockdown, and knockout zebrafish model systems can, therefore, contribute to filling the gap in knowledge about early events during vertebrate skeletal development that are not as tenable in mammalian model systems and help us understand Col11a1-related early developmental events.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping