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Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

A pair of mutations in one gene have been implicated in the short stature and immunodeficiency observed in three brothers from a single family, according to a report in this week's Science Signaling. The study focused on the regulator of G protein signaling (RGS) superfamily, a group of proteins with diverse cellular functions. While RGS mutations are known to contribute to genetic disorders, the role of individual proteins in these conditions is not known. To investigate, a team led by researchers from the US National Institute of Allergy and Infectious Diseases studied molecular data on three brothers from Qatar, with short stature and recurrent viral infections. The patients were found to have reduced amounts of growth hormones and abnormalities in immune cell movement. Exome sequencing revealed that the brothers all had two rare mutations in the RGS10 gene not found in their healthy siblings. The mutations were linked with changes in lymph node architecture and immune cell impairment, while overexpression of RGS10 in pituitary adenoma cells was found to slow the secretion of growth hormone. Further work revealed that the mutations altered RGS10's phosphorylation by the enzyme PKA and its subcellular localization, which the researchers linked to defective lymphocyte chemotaxis. The findings, the study's authors write, suggest that "RGS10 is critical for both immune competence and normal hormonal metabolism in humans and that rare RGS10 variants may contribute to distinct systemic genetic disorders."

A high-resolution single-cell transcriptomics map of human tissues is reported in Science Advances this week. A multi-institute team led by scientists from the KTH-Royal Institute of Technology combined genome-wide expression data from single-cell RNA-seq experiments with spatial antibody-based bioimaging data to create the map, which covers 13 different human tissues encompassing most major organs, as well as peripheral blood mononuclear cells. This Single Cell Type Atlas, which is part of the Human Protein Atlas project, is being made publicly available, allowing researchers to explore the expression of human protein-coding genes in 192 individual cell type clusters. "An expression specificity classification was performed to determine the number of genes elevated in each cell type, allowing comparisons with bulk transcriptomics data," the researchers write. "The analysis highlights distinct expression clusters corresponding to cell types sharing similar functions, both within the same organs and between organs."