AI Article Synopsis
- - The study aimed to explore how the best1 gene knockdown in zebrafish affects development, particularly in relation to craniovertebral junction malformations.
- - Researchers used specific morpholinos to inhibit the best1 gene, leading to observable defects in zebrafish like shorter length, microcephaly, and impaired brain and eye growth.
- - The findings suggest that the best1 gene is crucial for proper development of the eyes, brain, and bones, with implications seen in a human patient exhibiting similar developmental issues.
Article Abstract
Objective: To investigate the developmental defects caused by knockdown of best1 gene in zebrafish as a model for a subtype of craniovertebral junction (CVJ) malformation.
Methods: Two antisense morpholinos (MOs) were designed targeting zebrafish best1 to block translation (ATG-MO) or to disrupt splicing (I3E4-MO). MOs were microinjected into fertilized one-cell embryos. Efficacy of splicing MO was confirmed by reverse transcription-polymerase chain reaction. Phenotypes were analyzed and quantified by microscopy at multiple developmental stages. Neuronal outgrowth was assessed in transgenic zebrafish expressing green fluorescent protein in neurons. Skeletal ossification was visualized by Calcein staining.
Results: Knockdown of best1 resulted in zebrafish embryos with shorter body length, curved axis, low survival rate, microcephaly, reduced eye size, smaller head and brain, impaired neuronal outgrowth, and reduced ossification of craniofacial and vertebral bone.
Conclusion: Best1 gene plays critical roles in ophthalmologic, neurological and skeletal development in zebrafish. A patient with a premature stop codon in BEST1 gene exhibited similar phenotypes, implying a subtype of CVJ malformation.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11224734 | PMC |
| http://dx.doi.org/10.14245/ns.2347238.619 | DOI Listing |
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