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Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression

ABSTRACT: Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression

PROVIDER: PRJNA1031631 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR26499900_1.fastq.gz	Fastqsanger.gz
	SRR26499900_2.fastq.gz	Fastqsanger.gz
	SRR26499901_1.fastq.gz	Fastqsanger.gz
	SRR26499901_2.fastq.gz	Fastqsanger.gz
	SRR26499902_1.fastq.gz	Fastqsanger.gz

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Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression

Project description:Multiplexed assays of variant effect are powerful methods to profile the consequences of rare variants on gene expression and organismal fitness. Yet, few studies have integrated several multiplexed assays to map variant effects on gene expression in coding sequences. Here, we pioneered a multiplexed assay based on polysome profiling to measure variant effects on translation at scale, uncovering single-nucleotide variants that increase and decrease ribosome load. By combining high-throughput ribosome load data with multiplexed mRNA and protein abundance readouts, we mapped the cis-regulatory landscape of thousands of catechol-O-methyltransferase (COMT) variants from RNA to protein and found numerous coding variants that alter COMT expression. Finally, we trained machine learning models to map signatures of variant effects on COMT gene expression and uncovered both directional and divergent impacts across expression layers. Our analyses reveal expression phenotypes for thousands of variants in COMT and highlight variant effects on both single and multiple layers of expression. Our findings prompt future studies that integrate several multiplexed assays for the readout of gene expression

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Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression.

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Project description:Catechol-O-methyltransferase (COMT) is a key enzyme in estrogen catabolism, but its estrogen-independent roles in ovarian cancer remain largely unknown. This study aims to elucidate the molecular mechanisms by which COMT suppresses cell invasion and to evaluate its significance as a prognostic marker. We performed transcriptome analysis (RNA-seq) on ovarian cancer cells to identify downstream targets of COMT. Our results show that COMT overexpression significantly inhibits cell invasion in an estrogen-independent manner. Integrative analysis of RNA-seq and CE-MS metabolome data revealed that COMT upregulates desmoglein genes (DSG1-3), thereby strengthening cell-to-cell contact, and induces metabolic remodeling. These findings suggest that COMT suppresses metastasis by regulating cell adhesion and metabolism, serving as a potential prognostic marker and therapeutic target in ovarian cancer.

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