Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders that often progress to chemotherapy-resistant secondary acute myeloid leukemia (sAML). We used whole-genome sequencing to perform an unbiased comprehensive screen to discover the somatic mutations in a sample from an individual with sAML and genotyped the loci containing these mutations in the matched MDS sample. Here we show that a missense mutation affecting the serine at codon 34 (Ser34) in U2AF1 was recurrently present in 13 out of 150 (8.7%) subjects with de novo MDS, and we found suggestive evidence of an increased risk of progression to sAML associated with this mutation. U2AF1 is a U2 auxiliary factor protein that recognizes the AG splice acceptor dinucleotide at the 3' end of introns, and the alterations in U2AF1 are located in highly conserved zinc fingers of this protein. Mutant U2AF1 promotes enhanced splicing and exon skipping in reporter assays in vitro. This previously unidentified, recurrent mutation in U2AF1 implicates altered pre-mRNA splicing as a potential mechanism for MDS pathogenesis

The present and future of QCD

This White Paper presents an overview of the current status and future perspective of QCD research, based on the community inputs and scientific conclusions from the 2022 Hot and Cold QCD Town Meeting. We present the progress made in the last decade toward a deep understanding of both the fundamental structure of the sub-atomic matter of nucleon and nucleus in cold QCD, and the hot QCD matter in heavy ion collisions. We identify key questions of QCD research and plausible paths to obtaining answers to those questions in the near future, hence defining priorities of our research over the coming decades

Hot QCD White Paper

Hot QCD physics studies the nuclear strong force under extreme temperature and densities. Experimentally these conditions are achieved via high-energy collisions of heavy ions at the Relativistic Heavy Ion Collider (RHIC) and the Large Hadron Collider (LHC). In the past decade, a unique and substantial suite of data was collected at RHIC and the LHC, probing hydrodynamics at the nucleon scale, the temperature dependence of the transport properties of quark-gluon plasma, the phase diagram of nuclear matter, the interaction of quarks and gluons at different scales and much more. This document, as part of the 2023 nuclear science long range planning process, was written to review the progress in hot QCD since the 2015 Long Range Plan for Nuclear Science, as well as highlight the realization of previous recommendations, and present opportunities for the next decade, building on the accomplishments and investments made in theoretical developments and the construction of new detectors. Furthermore, this document provides additional context to support the recommendations voted on at the Joint Hot and Cold QCD Town Hall Meeting, which are reported in a separate document

The Present and Future of QCD

This White Paper presents the community inputs and scientific conclusions from the Hot and Cold QCD Town Meeting that took place September 23-25, 2022 at MIT, as part of the Nuclear Science Advisory Committee (NSAC) 2023 Long Range Planning process. A total of 424 physicists registered for the meeting. The meeting highlighted progress in Quantum Chromodynamics (QCD) nuclear physics since the 2015 LRP (LRP15) and identified key questions and plausible paths to obtaining answers to those questions, defining priorities for our research over the coming decade. In defining the priority of outstanding physics opportunities for the future, both prospects for the short (~ 5 years) and longer term (5-10 years and beyond) are identified together with the facilities, personnel and other resources needed to maximize the discovery potential and maintain United States leadership in QCD physics worldwide. This White Paper is organized as follows: In the Executive Summary, we detail the Recommendations and Initiatives that were presented and discussed at the Town Meeting, and their supporting rationales. Section 2 highlights major progress and accomplishments of the past seven years. It is followed, in Section 3, by an overview of the physics opportunities for the immediate future, and in relation with the next QCD frontier: the EIC. Section 4 provides an overview of the physics motivations and goals associated with the EIC. Section 5 is devoted to the workforce development and support of diversity, equity and inclusion. This is followed by a dedicated section on computing in Section 6. Section 7 describes the national need for nuclear data science and the relevance to QCD research