Predicting genetic disorders impacting bone deformities in juvenile hybrid grouper, Epinephelus fuscoguttatus X Epinephelus polyphekadion: In silico interpretation via BMP4, Runx2, and VDR pathways

Understanding the control of bone formation (osteoblast) is crucial for investigating the reasons for bone deformities in Epinephelus fuscoguttatus X Epinephelus polyphekadion (EFEP) hybrid grouper fry. Proteins, transcription factors, and hormones, such as BMP4, Runx2, and 1.25(OH)2D3, interact to control osteoblast formation. BMP4 is a protein that stimulates osteoblast development in conjunction with the transcription factor Runx2. Through binding to the VDR involving Runx2, 1.25(OH)2D3 also functions in osteoblast regulation. Malformations of the bone may result from anomalies in the control of bone formation. Mutations in the BMP4, Runx2, and VDR genes can result in regulatory abnormalities. This study aimed to predict the genotypic involvement between parents and offspring in the BMP4, Runx2, and VDR mechanism pathways analyzed by PCR-sequencing and in silico 3D protein structure modeling. Bone deformities were known to be induced by mutations in the VDRa gene, as predicted by protein structure modeling. The mutation of a single amino acid sequence alters the structure of the 3D VDRa protein, displacing the attachment location of 1,25(OH)2D3, the natural ligand of the VDR. The sequence of amino acids in the Runx2 gene has evolved. The development of this amino acid sequence and its functional influence on the Runx2 protein requires more investigation. Meanwhile, BMP4 has been unable to characterize its involvement in osteoblasts because the primer designed does not adequately describe the protein in the issue. The prediction results indicate that there is involvement of VDRa and Runx2 genetic abnormalities, but more in-depth confirmation of this needs to be carried out with more precise/valid tests.