A genome-to-proteome atlas charts natural variants controlling proteome diversity and forecasts their fitness effects.

Despite abundant genomic and phenotypic data across individuals and environments, the functional impact of most mutations on phenotype remains unclear. Here, we bridge this gap by linking genome to proteome in 800 meiotic progeny from an intercross between two closely related isolates adapted to distinct niches. Modest genetic distance between the parents generated remarkable proteomic diversity that was amplified in the progeny and captured by 6,476 genotype-protein associations, over 1,600 of which we resolved to single variants.

[Symptom perception and coping in patients with primary biliary cholangitis: a qualitative study in the context of SOMA.LIV].

Patients with primary biliary cholangitis (PBC) suffer from a variety of physical complaints such as fatigue, itching or joint pain. Since little is known about the experience of symptoms and the corresponding coping strategies in this patient group, a qualitative study was conducted in which 15 patients with PBC were interviewed. The patients reported being burdened by numerous physical complaints, some of which require extensive coping and adaptation processes.

Autoantigen-specific CD4 T cells acquire an exhausted phenotype and persist in human antigen-specific autoimmune diseases.

Pro-inflammatory autoantigen-specific CD4 T helper (auto-Th) cells are central orchestrators of autoimmune diseases (AIDs). We aimed to characterize these cells in human AIDs with defined autoantigens by combining human leukocyte antigen (HLA)-tetramer-based and activation-based multidimensional ex vivo analyses. In aquaporin4-antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD) patients, auto-Th cells expressed CD154, but proliferative capacity and pro-inflammatory cytokines were strongly reduced.