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Biology subjects

Gani, O.

Publications and source records attributed to Gani, O..

2 recordsLinked to original sources

Adenosine impairs T cell function via activation of purine salvage pathway and AMP-induced inhibition of pyrimidine nucleotide biosynthesis

Extracellular adenosine (ADO) is a well-established immune checkpoint mediator suppressing T cells via activation of A2A receptors, yet intracellular mechanisms of ADO action remain less understood. Here, we show that activated human T cells transport extracellular ADO through equilibrative nucleoside transporter 1 (ENT1) and metabolize it through ATP salvage pathway. The generated ADO metabolite AMP inhibits UMP synthase (UMPS), the rate-limiting enzyme of de novo pyrimidine biosynthesis, leading to diminished ATP production via conventional bioenergetic pathways, increased apoptosis, and impaired effector functions of T cells. Flow cytometric and single-cell transcriptomic analyses further revealed that ADO restrains the exit of naive T cells from quiescence. All effects of ADO were phenocopied by treating T cells with the inhibitors of UMPS and reversed after pharmacological blockage of ENT1 or uridine supplementation. Additional molecular docking, molecular dynamics simulations, and free-energy analyses indicate that AMP can occupy the orotidine 5'-monophosphate (OMP) decarboxylase catalytic site of UMPS with the same anchoring contacts as substrate OMP and product UMP, providing a structural rationale for direct AMP-mediated inhibition of pyrimidine biosynthesis. These findings demonstrate that immunosuppressive effects of ADO extend beyond canonical adenosinergic signaling and involve cellular ADO uptake and modulation of purine and pyrimidine metabolism.

immunology↗

Annotation-Informed Causal Mixture Modeling (AI-MiXeR) reveals phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories

Determining the contribution of functional genetic categories is fundamental to understanding the genetic etiology of complex human traits and diseases. Here we present Annotation Informed MiXeR: a likelihood-based method to estimate the number of variants influencing a phenotype and their effect sizes across different functional annotation categories of the genome using summary statistics from genome-wide association studies. Applying the model to 11 complex phenotypes suggests diverse patterns of functional category-specific genetic architectures across human diseases and traits.

genetics↗