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A more personal view of human-gene regulation

Nature - Tue, 10/17/2017 - 11:00

A more personal view of human-gene regulation

Nature 550, 7675 (2017). doi:10.1038/550157a

A long-planned effort to examine gene expression and gene regulation in all the major tissues in the human body across many people comes to fruition.

Categories: Literature

Gene-expression study raises thorny ethical issues

Nature - Tue, 10/17/2017 - 11:00

Gene-expression study raises thorny ethical issues

Nature 550, 7675 (2017). http://www.nature.com/doifinder/10.1038/550169a

Author: Ewen Callaway

Project obtains tissues from recently deceased individuals to look for the origins of disease.

Categories: Literature

The future of DNA sequencing

Nature - Tue, 10/17/2017 - 11:00

The future of DNA sequencing

Nature 550, 7675 (2017). doi:10.1038/550179a

Authors: Eric D. Green, Edward M. Rubin & Maynard V. Olson

Eric D. Green, Edward M. Rubin and Maynard V. Olson speculate on the next forty years of the applications, from policing to data storage.

Categories: Literature

How Big Water Projects Helped Trigger Africa's Migrant Crisis

Yale Environment 360 - Tue, 10/17/2017 - 04:00

Major dam and irrigation projects are drying up the wetlands that sustain life in the arid Sahel region of Africa. The result has been a wave of environmental refugees, as thousands of people flee, many on boats to Europe.

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Categories: Environmental News

Give researchers a lifetime word limit

Nature - Tue, 10/17/2017 - 00:00

Give researchers a lifetime word limit

Nature 550, 7676 (2017). http://www.nature.com/doifinder/10.1038/550303a

Author: Brian C. Martinson

Brian C. Martinson imagines how rationing the number of publications a scientist could put out might improve the scientific literature.

Categories: Literature

Japanese research leaders warn about national science decline

Nature - Tue, 10/17/2017 - 00:00

Japanese research leaders warn about national science decline

Nature 550, 7676 (2017). http://www.nature.com/doifinder/10.1038/550310a

Author: Nicky Phillips

Concern mounts over budget cuts and other changes that undermine basic science.

Categories: Literature

Reboot for the AI revolution

Nature - Tue, 10/17/2017 - 00:00

Reboot for the AI revolution

Nature 550, 7676 (2017). doi:10.1038/550324a

Author: Yuval Noah Harari

As artificial intelligence puts many out of work, we must forge new economic, social and educational systems, argues Yuval Noah Harari.

Categories: Literature

Americans Are Willing to Pay $177 Annually for Carbon Tax, Survey Finds

Yale Environment 360 - Mon, 10/16/2017 - 11:39

A new survey of more than 1,200 American adults found that households were willing to pay an average $177 per year on a “tax on fossil fuels (coal, oil, and natural gas) to help reduce global warming.” This equals a 14.4 percent increase in energy cost compared to current electricity rates in each state. 

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Categories: Environmental News

Eye in the sky offers clearest vision of Earth

Nature - Mon, 10/16/2017 - 00:00

Eye in the sky offers clearest vision of Earth

Nature 550, 7676 (2017). doi:10.1038/550301a

The world’s latest carbon-monitoring satellite has advanced our understanding of how the planet functions. US politicians should take note.

Categories: Literature

Colliding stars spark rush to solve cosmic mysteries

Nature - Mon, 10/16/2017 - 00:00

Colliding stars spark rush to solve cosmic mysteries

Nature 550, 7676 (2017). http://www.nature.com/doifinder/10.1038/550309a

Author: Davide Castelvecchi

Stellar collision confirms theoretical predictions about the periodic table.

Categories: Literature

Paris to Ban Fossil Fuel Cars by 2030

Yale Environment 360 - Thu, 10/12/2017 - 13:22

Paris announced it will ban all gas- and diesel-fueled cars within city limits by 2030, allowing only electric vehicles onto its streets, according to Reuters. The decision is the latest effort by the city to grapple with its intense smog and air pollution problem, as well as combat climate change. These concerns have already led Paris to impose temporary driving bans, no-car zones, and restrictions on cars older than 20 years.

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Categories: Environmental News

Beyond Biodiversity: A New Way of Looking at How Species Interconnect

Yale Environment 360 - Thu, 10/12/2017 - 04:00

In a development that has important implications for conservation, scientists are increasingly focusing not just on what species are present in an ecosystem, but on the roles that certain key species play in shaping their environment. 

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Categories: Environmental News

FDA advisers back gene therapy for rare form of blindness

Nature - Thu, 10/12/2017 - 00:00

FDA advisers back gene therapy for rare form of blindness

Nature 550, 7676 (2017). http://www.nature.com/doifinder/10.1038/nature.2017.22819

Author: Heidi Ledford

Therapy that targets disease-causing mutations could become the first of its kind approved for use in the United States.

Categories: Literature

Living in Watersheds with More Trees Reduces Disease Risk

Yale Environment 360 - Wed, 10/11/2017 - 12:33

Diarrheal disease from contaminated water is the second leading cause of death among children under the age of five, claiming more than 360,000 lives annually. Now, a new study of children in 35 countries finds that those living in a watershed with more trees had a lower risk of contracting the illness.

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Categories: Environmental News

Neurobiology: Domains to the rescue for Rett syndrome

Nature - Wed, 10/11/2017 - 00:00

Neurobiology: Domains to the rescue for Rett syndrome

Nature 550, 7676 (2017). doi:10.1038/nature24151

Authors: Anne E. West

Rett syndrome is a brain disorder caused by disrupted forms of the protein MECP2, but how MECP2 loss affects the brain is unknown. A mouse study now implicates key domains of the protein and offers therapeutic insights. See Letter p.398

Categories: Literature

DNA sequencing at 40: past, present and future

Nature - Wed, 10/11/2017 - 00:00

DNA sequencing at 40: past, present and future

Nature 550, 7676 (2017). doi:10.1038/nature24286

Authors: Jay Shendure, Shankar Balasubramanian, George M. Church, Walter Gilbert, Jane Rogers, Jeffery A. Schloss & Robert H. Waterston

This review commemorates the 40th anniversary of DNA sequencing, a period in which we have already witnessed multiple technological revolutions and a growth in scale from a few kilobases to the first human genome, and now to millions of human and a myriad of other

Categories: Literature

Human TRPML1 channel structures in open and closed conformations

Nature - Wed, 10/11/2017 - 00:00

Human TRPML1 channel structures in open and closed conformations

Nature 550, 7676 (2017). doi:10.1038/nature24036

Authors: Philip Schmiege, Michael Fine, Günter Blobel & Xiaochun Li

Transient receptor potential mucolipin 1 (TRPML1) is a Ca2+-releasing cation channel that mediates the calcium signalling and homeostasis of lysosomes. Mutations in TRPML1 lead to mucolipidosis type IV, a severe lysosomal storage disorder. Here we report two electron cryo-microscopy structures of full-length human

Categories: Literature

Establishment of mouse expanded potential stem cells

Nature - Wed, 10/11/2017 - 00:00

Establishment of mouse expanded potential stem cells

Nature 550, 7676 (2017). doi:10.1038/nature24052

Authors: Jian Yang, David J. Ryan, Wei Wang, Jason Cheuk-Ho Tsang, Guocheng Lan, Hideki Masaki, Xuefei Gao, Liliana Antunes, Yong Yu, Zhexin Zhu, Juexuan Wang, Aleksandra A. Kolodziejczyk, Lia S. Campos, Cui Wang, Fengtang Yang, Zhen Zhong, Beiyuan Fu, Melanie A. Eckersley-Maslin, Michael Woods, Yosuke Tanaka, Xi Chen, Adam C. Wilkinson, James Bussell, Jacqui White, Ramiro Ramirez-Solis, Wolf Reik, Berthold Göttgens, Sarah A. Teichmann, Patrick P. L. Tam, Hiromitsu Nakauchi, Xiangang Zou, Liming Lu & Pentao Liu

Mouse embryonic stem cells derived from the epiblast contribute to the somatic lineages and the germline but are excluded from the extra-embryonic tissues that are derived from the trophectoderm and the primitive endoderm upon reintroduction to the blastocyst. Here we report that cultures of expanded potential stem cells can be established from individual eight-cell blastomeres, and by direct conversion of mouse embryonic stem cells and induced pluripotent stem cells. Remarkably, a single expanded potential stem cell can contribute both to the embryo proper and to the trophectoderm lineages in a chimaera assay. Bona fide trophoblast stem cell lines and extra-embryonic endoderm stem cells can be directly derived from expanded potential stem cells in vitro. Molecular analyses of the epigenome and single-cell transcriptome reveal enrichment for blastomere-specific signature and a dynamic DNA methylome in expanded potential stem cells. The generation of mouse expanded potential stem cells highlights the feasibility of establishing expanded potential stem cells for other mammalian species.

Categories: Literature

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

Nature - Wed, 10/11/2017 - 00:00

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

Nature 550, 7676 (2017). doi:10.1038/nature24058

Authors: Rebekah Tillotson, Jim Selfridge, Martha V. Koerner, Kamal K. E. Gadalla, Jacky Guy, Dina De Sousa, Ralph D. Hector, Stuart R. Cobb & Adrian Bird

Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional co-repressors (for example, the NCoR/SMRT complex), transcriptional activators, RNA, chromatin remodellers, microRNA-processing proteins and splicing factors. Accordingly, MeCP2 has been cast as a multi-functional hub that integrates diverse processes that are essential in mature neurons. At odds with the concept of broad functionality, missense mutations that cause Rett syndrome are concentrated in two discrete clusters coinciding with interaction sites for partner macromolecules: the methyl-CpG binding domain and the NCoR/SMRT interaction domain. Here we test the hypothesis that the single dominant function of MeCP2 is to physically connect DNA with the NCoR/SMRT complex, by removing almost all amino-acid sequences except the methyl-CpG binding and NCoR/SMRT interaction domains. We find that mice expressing truncated MeCP2 lacking both the N- and C-terminal regions (approximately half of the native protein) are phenotypically near-normal; and those expressing a minimal MeCP2 additionally lacking a central domain survive for over one year with only mild symptoms. This minimal protein is able to prevent or reverse neurological symptoms when introduced into MeCP2-deficient mice by genetic activation or virus-mediated delivery to the brain. Thus, despite evolutionary conservation of the entire MeCP2 protein sequence, the DNA and co-repressor binding domains alone are sufficient to avoid Rett syndrome-like defects and may therefore have therapeutic utility.

Categories: Literature

Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3

Nature - Wed, 10/11/2017 - 00:00

Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3

Nature 550, 7676 (2017). doi:10.1038/nature24055

Authors: Marscha Hirschi, Mark A. Herzik Jr, Jinhong Wie, Yang Suo, William F. Borschel, Dejian Ren, Gabriel C. Lander & Seok-Yong Lee

The modulation of ion channel activity by lipids is increasingly recognized as a fundamental component of cellular signalling. The transient receptor potential mucolipin (TRPML) channel family belongs to the TRP superfamily and is composed of three members: TRPML1–TRPML3. TRPMLs are the major Ca2+-permeable channels on late endosomes and lysosomes (LEL). They regulate the release of Ca2+ from organelles, which is important for various physiological processes, including organelle trafficking and fusion. Loss-of-function mutations in the MCOLN1 gene, which encodes TRPML1, cause the neurodegenerative lysosomal storage disorder mucolipidosis type IV, and a gain-of-function mutation (Ala419Pro) in TRPML3 gives rise to the varitint–waddler (Va) mouse phenotype. Notably, TRPML channels are activated by the low-abundance and LEL-enriched signalling lipid phosphatidylinositol-3,5-bisphosphate (PtdIns(3,5)P2), whereas other phosphoinositides such as PtdIns(4,5)P2, which is enriched in plasma membranes, inhibit TRPMLs. Conserved basic residues at the N terminus of the channel are important for activation by PtdIns(3,5)P2 and inhibition by PtdIns(4,5)P2. However, owing to a lack of structural information, the mechanism by which TRPML channels recognize PtdIns(3,5)P2 and increase their Ca2+ conductance remains unclear. Here we present the cryo-electron microscopy (cryo-EM) structure of a full-length TRPML3 channel from the common marmoset (Callithrix jacchus) at an overall resolution of 2.9 Å. Our structure reveals not only the molecular basis of ion conduction but also the unique architecture of TRPMLs, wherein the voltage sensor-like domain is linked to the pore via a cytosolic domain that we term the mucolipin domain. Combined with functional studies, these data suggest that the mucolipin domain is responsible for PtdIns(3,5)P2 binding and subsequent channel activation, and that it acts as a ‘gating pulley’ for lipid-dependent TRPML gating.

Categories: Literature

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