Tucker, Lisa Tanya;
(2020)
Elucidation of the Genetic and Developmental Mechanisms Underlying Choroid Fissure Closure.
Masters thesis (M.Phil), UCL (University College London).
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Abstract
The choroid fissure is an opening in the ventral area of the developing optic cup that allows the hyaloid vasculature to enter and the retinal axons to exit the eye. Once this process has taken place, the choroid fissure will come together and fuse to form a continuous bilayered optic cup. If the choroid fissure fails to fuse, a permanent opening remains, giving a condition known as a coloboma. Coloboma is one of the most common congenital disorders in the world and can frequently cause blindness. However, the mechanisms underlying choroid fissure fusion are largely unknown. From mapping data, we discovered that disrupted function of lama1 leads to coloboma in zebrafish. We analysed two alleles, one associated with a substitution of an amino acid in a highly conserved LamNT domain (nl14) and the other associated with a SNP that causes a premature stop codon (nl15). Using techniques such as in situ hybridisation, immunohistochemistry and optokinetic response (OKR), we were able to characterise the phenotype associated with mutations in lama1. The retina in mutant embryos develops as in wild-type siblings and no obvious disruption of the different layers, including the photoreceptors, was observed. However, there is a disrupted/reduced visual function in mutants compared to their siblings. This compromised visual function appears to be due to a combination of coloboma and disruption of the retinal projections. Therefore, disrupted function of lama1 does cause coloboma and can be added to the already known list of genes associated with coloboma.
| Type: | Thesis (Masters) |
|---|---|
| Qualification: | M.Phil |
| Title: | Elucidation of the Genetic and Developmental Mechanisms Underlying Choroid Fissure Closure |
| Event: | UCL |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2020. Original content in this thesis is licensed under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) Licence (https://creativecommons.org/licenses/by/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10101830 |
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