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Recent studies have identified recurrent mutations in SETBP1, the gene that encodes SET-binding protein 1, in several types of myeloid malignancies, including chronic myeloid and acute myeloid leukemias. The identified mutations frequently target the SKI-homologous domain, although the exact pathogenic mechanisms remain unknown.
Two recent large-scale sequencing studies have identified multiple genetic aberrations in pediatric low-grade gliomas. These findings offer substantial insights that may spur the development of new diagnostics and treatments for these cancers.
Two recent studies describe the largest molecular profiling analyses to date of clear-cell renal cell carcinoma (ccRCC) and report remarkably similar findings. The recurrent pathway alterations identified in these studies open new avenues for therapeutic advances in this chemotherapy- and radiation-resistant disease.
A new study demonstrates that bacterial mutation rates associated with the Mycobacterium tuberculosis lineage most commonly linked to multidrug-resistant tuberculosis are multifold higher than shown in previous studies. This discovery, when considered together with recent findings on pharmacokinetic variability in patients, leads to new models of how multidrug-resistant tuberculosis arises, with direct therapeutic implications.
The discovery of new therapeutic targets and the personalization of treatments are two active areas of cancer research. New studies suggest that a 'co-clinical' approach may expedite both therapeutic target validation and risk stratification in patients with advanced prostate cancer.
Transposable elements (TEs) make up 50% of the human genome and are usually considered a mutational burden. A new study uses signatures of DNA hypomethylation to identify tissue-specific enhancers within TEs, providing fresh evidence that mobile DNA has a non-negligible role in genome regulation and evolution.
Two new studies show that the known histone H3 alteration p.Lys27Met in pediatric glioma leads to globally diminished trimethylation at histone H3 lysine 27. The mutant histone H3 acts as a selective inhibitor of the PRC2 chromatin-modifying complex by binding and presumably sequestering it, shedding light on how this variant may contribute to the etiology of these highly malignant brain tumors.
A recent study in the New England Journal of Medicine reports the genomic and epigenomic changes in adult acute myeloid leukemia (AML). The patterns of somatic mutation suggest biologically relevant connections between the functional categories of genes driving AML.
Plasmodium falciparum in Southeast Asia are gradually becoming resistant to artemesinin, a standard first-line treatment for malaria. Whole-genome sequencing offers a chance to better understand and perhaps undermine the parasite's evolutionary response to this drug.
Analyses of a new male sterility gene from a well-known rice cytoplasmic sterile line reveal inhibition of a nucleus-encoded protein and counteractions by nuclear fertility restorer factors. The existence of these genes in wild rice populations suggests that they may confer selective advantages.
A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.
Alterations in the single-stranded telomere–binding protein POT1 have recently been identified in chronic lymphocytic leukemia. This discovery provides novel insights into how genomic instability induced by dysfunctional telomeres contributes to tumorigenesis.
Jake Gratten and colleagues discuss challenges in interpreting the role of de novo mutations in neuropsychiatric and other complex diseases. They argue that the burden of proof for causality for a single de novo mutation must be set high and that curation of de novo mutations and their associated phenotypes in databases will be critical for the robust interpretation of exome sequencing studies.
Two new loci for premature fusion of the cranial sutures in humans suggest a common endpoint in osteoblast regulation, linking upregulation of phosphorylated ERK1/2 and TWIST1 haploinsufficiency.
A new study in mice shows that, during meiosis, the decision to mature a double-strand break into a crossover is controlled by a dosage-sensitive regulator, RNF212. This finding provides insight into the crossover maturation process and may help explain how sequence polymorphisms in RNF212 alter the frequency of crossing over in humans.
A recent study shows that the life history of chronic lymphocytic leukemia is characterized by a complex and dynamic architecture involving the development of subclones with changing dominance over time. This innovative study provides a framework to design anticipation-based chemotherapy approaches for cancer treatment.
Attempts to elucidate the mechanism underpinning the genetic association between IFNL3, previously called IL28B, and clearance of hepatitis C virus have, by and large, been unsuccessful. A study in this issue suggests that a new gene, IFNL4, may be responsible.
Our understanding of inherited risk factors for colorectal cancer (CRC) is incomplete. A new study reports the identification of germline CRC risk variants that adversely affect the proofreading function of DNA polymerases encoded by POLE and POLD1.
