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Andrew Futreal and colleagues report inactivating somatic mutations in the histone lysine demethylase gene UTX in human cancers, including multiple myelomas, esophageal squamous carcinomas, renal clear cell carcinomas, acute and chronic myeloid leukemias, breast and colorectal cancers and glioblastomas, identifying UTX as a new tumor suppressor gene.

A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.

Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.

Combined patch clamp recording, biocytin staining and single-cell RNA-sequencing of human neurocortical neurons shows an expansion of glutamatergic neuron types relative to mouse that characterizes the greater complexity of the human neocortex.

A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.

Climate change is expected to have major impacts on forest tree diseases. Here the authors analyse long-term data of white pine blister rust in the southern Sierra Nevada, finding evidence of climate change-driven disease range expansion that was mediated by spatially varying host-pathogen-drought interactions.

Andrew Futreal and colleagues identify the major cartilage collagen gene COL2A1 as a frequent target of somatic mutation in chondrosarcoma. The mutation patterns are consistent with selection for variants likely to impair normal collagen biosynthesis.

Using large-scale exome sequencing, this study identifies a second (after VHL) frequently mutated gene in clear cell renal cell carcinomas, the most frequent type of kidney cancer. PBRM1, a member of the SWI/SNF complex involved in transcriptional regulation, is mutated in about 40% of cases and shown to function as tumour suppressor gene. PBRM1 was independently found as a putative cancer gene involved in pancreatic cancer in a mouse transposon screen.

Tobacco smoke contains more than sixty carcinogens that bind and mutate DNA. Here, massively parallel sequencing technology is used to sequence a small-cell lung cancer cell line, exploring the mutational burden associated with tobacco smoking. Multiple mutation signatures from the cocktail of carcinogens in tobacco smoke are found, as well as evidence of transcription-coupled repair and another, more general, expression-linked repair pathway.

Understanding the dynamics of light-induced carriers is vital for employing two-dimensional materials in optoelectronic applications. Here, the authors use a sub diffraction-limit optical technique to reveal the excitonic properties of monolayer molybdenum disulfide at the nanoscale.

Pancreatic cancer is highly aggressive, usually because of widespread metastasis. Here, next-generation DNA sequencing has been used to detect genomic rearrangements in 13 patients with pancreatic cancer and to explore clonal relationships among metastases. The results reveal not only considerable inter-patient heterogeneity, but also ongoing genomic instability and evolution during the development of metastases.

Tarpey et al. carry out a large-scale systematic sequencing of the majority of X-chromosome coding exons from 208 families with multiple individuals with mental retardation and a pattern of transmission compatible with X linkage in order to identify XLMR-causative mutations. They find several mutations that appear to be causative in loci already known to be involved in XLMR, as well as new data about those loci, and make inferences about the role of the different classes of variants in these diseases.

An absence of sapropels in eastern Mediterranean sediments suggests an expansion of vegetation over a relatively humid North African landscape preceding the mid-Pliocene glaciation, potentially facilitating early human migration.

Clear cell renal carcinoma, the most common form of adult kidney cancer, is often characterized by the presence of inactivating mutations in the VHL gene. A large survey for somatic mutations now identifies inactivating mutations in two genes encoding enzymes involved in histone modification, highlighting the role of mutations in components of the chromatin modification machinery in human cancer.

Multiple somatic rearrangements are often found in cancer genomes, but the underlying processes of rearrangement and the effects of this are unclear. A paired-end sequencing strategy is now used to map somatic rearrangements in human breast cancer genomes. More rearrangements in some breast cancers are found than previously recognized, including frequent tandem duplications that may reflect a specific defect in DNA maintenance.

Ionizing radiation may induce irreparable DNA damage leading to cancer. Here, the authors identify a specific signature of mutations arising in patients exposed to ionizing radiation and suggest that radiation-induced tumorigenesis is associated with higher rates of genome-wide deletions and balanced inversions.

The authors report the mutational landscape of 29 cell types from microdissected biopsies from 19 organs and explore the mechanisms underlying mutation rates in normal tissues.

NanoSeq is used to detect mutations in single DNA molecules and analyses show that mutational processes that are independent of cell division are important contributors to somatic mutagenesis.

Chromosomal instability is a major challenge to patient stratification and targeted drug development for high-grade serous ovarian carcinoma. Here we show that identification of clonal somatic copy number alterations in frequently amplified cancer genes could inform therapeutics for precision medicine.

Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, the authors sequence childhood and adult osteosarcomas, identifying mutations in insulin-like growth factor signalling genes and distinct genomic rearrangement profiles characterized by chromothripsis-amplification.

The 2012–2016 drought and western pine beetle outbreaks caused unprecedented mortality of ponderosa pine in the Sierra Nevada, California. Here, the authors analyse drone-based data from almost half a million trees and find an interaction between host size and climatic water deficit, with higher mortality for large trees in dry, warm conditions but not in cooler or wetter conditions.

Sampling the viromes of vertebrates, arthropods and plants on an island ecosystem shows that viral transmission between species is strongly affected by phylogeny but less affected by predator–prey relationships and that generalist viruses pose the greatest zoonotic risk.

Homozygous gene deletions in cancer cells occur over recessive cancer genes (where they can confer selective growth advantage) or over genes at fragile sites of the genome (where they are thought to reflect increased DNA breakage). Here, a large number of homozygous deletions in a collection of cancer cell lines are identified and analysed to derive structural signatures for the two different types of deletion. More deletions are found in inherently fragile regions, and fewer overlying recessive genes.

Somatic mutations obtained from laser microdissected biopsies of human tissues are used to reconstruct the developmental phylogenies of these tissues back to the zygote.

A study of breast cancers shows that the number of somatic mutations in each varies markedly and is strongly correlated with age at diagnosis and cancer histological grade.

Experimental whole-ecosystem warming treatments of a Picea–Sphagnum peat bog reveal the likely phenological consequences of future temperature increases that exceed those of historical climate regimes.

Healthy tissues from individuals with germline mutations in POLE or POLD1 show increased mutational burden, suggesting that normal cells are capable of tolerating high mutation rates.

Laser-matter interactions during laser powder bed fusion additive manufacturing remain poorly understood. Here, the authors combine in situ X-ray imaging and finite element simulations to show how detrimental pores form under printing conditions and develop a strategy to suppress them.

The world's ecosystems are losing biodiversity fast. A satellite mission designed to track changes in plant functional diversity around the globe could deepen our understanding of the pace and consequences of this change, and how to manage it.

Hoxa- and Hoxd-deficient zebrafish generated using Crispr/Cas with fate mapping have reduced fin rays and increased endochondral elements, establishing homology between the developmental programs that create fin rays and the wrists and digits of mammals.