Publications by authors named "Jose Tellez-Arreola"
Article Synopsis
- Next-generation sequencing (NGS) is crucial for identifying genetic variants that cause diseases, but it's often too expensive for widespread clinical use; a cheaper alternative, extremely low coverage whole-genome sequencing (XLC-WGS), was explored in a study on retinitis pigmentosa (RP).
- The study analyzed the genomes of 17 family members, including three diagnosed with RP, using Illumina's processing tools to filter and prioritize genetic variants.
- Researchers identified a known mutation in the RP1 gene as the likely cause of RP in the affected individuals, demonstrating that combining pedigree analysis with XLC-WGS is a practical and cost-effective method to find genetic variants related to diseases.
Article Synopsis
- MCTPs (Multiple C2 Domains and Transmembrane region Proteins) are related to other important proteins involved in processes like exocytosis and membrane trafficking, but their specific functions have not been thoroughly researched.
- They are found in endosomes and the endoplasmic reticulum, featuring three conserved C2 domains and two transmembrane regions across different species.
- Structural modeling and docking analysis of MCTP's C2 domains in C. elegans suggests they have calcium- and lipid-binding abilities, indicating that MCTPs likely play a crucial, calcium-dependent role in membrane function.
Mol Cell Neurosci
September 2020
Article Synopsis
- * In C. elegans, the gene mctp-1 is regulated by two promoters: one in the nervous system and another in the spermatheca.
- * Loss of mctp-1 function leads to egg-laying issues and reduced movement, and mutants show decreased sensitivity to the drug aldicarb, indicating that MCTP-1 may influence synaptic vesicle release.
