Articles in 2017

A technique called genome architecture mapping (GAM) involves sequencing DNA from a large number of thin nuclear cryosections to develop a map of genome organization without the limitations of existing 3C-based methods.

Osteoblast-derived LCN2 activates the melanocortin 4 receptor in neurons of the paraventricular nucleus of the hypothalamus to suppress appetite, regulates insulin secretion and increases insulin sensitivity and glucose tolerance.

Analysis of Aboriginal Australian mitochondrial genomes shows geographic patterns and deep splits across the major haplogroups that indicate a single, rapid migration along the coasts around 49–45 ka, followed by longstanding persistence in discrete geographic areas.

Detection of weak electrical signals by skates relies on functional coupling of specific calcium and potassium channels, which mediates oscillations in electrosensory cell membrane voltage.

Perhaps the earliest known signs of life have been found in Quebec, where features such as haematite tubes suggest that filamentous microbes lived around hydrothermal vents at least 3,770 million years ago.

Cryo-electron microscopy maps of the fission yeast Mediator complex and of a Mediator–RNA polymerase II holoenzyme reveal how changes in the Med14 subunit enable large-scale rearrangements of the Mediator structure that are essential for holoenzyme formation.

A catalogue of human long non-coding RNA genes and their expression profiles across samples from major human primary cell types, tissues and cell lines.

Loss of autophagy increases the accumulation of mitochondria and the respiration status of haematopoietic stem cells, which perturbs their self-renewal and regeneration activities, and promotes cellular aging.

A new protein, Tudor interacting repair regulator (TIRR), affects DNA repair by masking the chromatin interaction domain of 53BP1, thereby preventing its recruitment to double-strand breaks.

Adipose tissue is a major source of circulating exosomal miRNAs, which contribute to the regulation of gene expression in distant tissues and organs.

A simple model, based on only summer insolation energy and time since the previous deglaciation, correctly predicts the deglaciation history of the past 2.6 million years, including the change in frequency of glacial–interglacial cycles about one million years ago.

Intragenic DNA methylation, dependent on Dnmt3b, protects the gene body from spurious entry of RNA Polymerase II and aberrant transcription initiation events.

The enzymes and pathway involved in the biosynthesis of coenzyme F₄₃₀ are identified, completing our understanding of how members of the cyclic modified tetrapyrrole family are constructed.

The genomes of 102 primary pancreatic neuroendocrine tumours have been sequenced, revealing mutations in genes with functions such as chromatin remodelling, DNA damage repair, mTOR activation and telomere maintenance, and a greater-than-expected contribution from germ line mutations.

The functional diversity of bipolar cells, which split visual inputs into different excitatory channels within the retina, arises from centre–surround interactions in their receptive fields that tune both spatial and temporal signalling.

Constructing a reference genome for quinoa (Chenopodium quinoa) allows for genetic diversity during the evolution of sub-genomes in quinoa to be characterized and markers that may be used to develop sweet commercial varieties are identified.

Data from over 700,000 individuals reveal the identity of 83 sequence variants that affect human height, implicating new candidate genes and pathways as being involved in growth.

The formation of the branched epithelial network of the mouse mammary gland during puberty is driven by a heterogeneous population of stem cells at the terminal end buds of the epithelium.

Integrin α_Vβ₆ binds the transforming growth factor-β1 precursor (pro-TGF-β1) in an orientation that is biologically relevant for force-dependent release of TGF-β from its latent form.

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.