Researchers performed saturation genome editing of the BAP1, whose dysfunction is related to cancer and impaired neurodevelopment.
By Pooja Toshniwal PahariaReviewed by Danielle Ellis, B.Sc.Jul 10 2024 In a recent study published in Nature Genetic s, researchers performed saturation genome editing of the BRCA1-associated protein-1 gene , whose dysfunction is related to cancer and impaired neurodevelopment.
About the study In the present study, researchers used SGE to characterize single-nucleotide variations in the BAP1 gene, enhancing precision medicine efforts. Researchers developed a HAP1 DNA ligase 4 knockout strain that included genomic integration of a clonally generated Cas9 . They refined plasmids and transfection methods, screening all BAP1-coding exons across five periods. In addition, they conducted two different studies to target each SGE area.
Related StoriesResearchers compared the BAP1 SGE test to the American College of Medical Genetics and Genomics evidence framework to establish its usefulness for variant interpretation. They investigated BAP1 variants in cancer and neurodevelopment and classified them as highly deficient or slightly depleted. They used a phenome-wide association study to identify deficient variants and developed cancer-type phenotypic characteristics and rare variant burden test masks.
The revised SGE method increased experiment quality by establishing BAP1 essentiality in the HAP1 LIG4 KO cell line, increasing Cas9 activity, and maintaining robust haploidy. The refined SGE procedure improved transfection efficiency among HAP1 cells to above 60% from below 5.0%. BAP1 essentiality enabled mutational consequence separation, with stop-gained and frameshift variants having primarily negative functional scores.
Autosomal Cancer Cancer Therapy Cas9 Cell Codon Gene Genetics Genome Genome Editing Germline Medicine Melanoma Nucleotide Precision Medicine Protein Syndrome Transfection Tumor
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