Abstract:
:X-chromosome inactivation (XCI), i.e., the inactivation of one of the female X chromosomes, restores equal expression of X-chromosomal genes between females and males. However, ~10% of genes show variable degrees of escape from XCI between females, although little is known about the causes of variable XCI. Using a discovery data-set of 1867 females and 1398 males and a replication sample of 3351 females, we show that genetic variation at three autosomal loci is associated with female-specific changes in X-chromosome methylation. Through cis-eQTL expression analysis, we map these loci to the genes SMCHD1/METTL4, TRIM6/HBG2, and ZSCAN9. Low-expression alleles of the loci are predominantly associated with mild hypomethylation of CpG islands near genes known to variably escape XCI, implicating the autosomal genes in variable XCI. Together, these results suggest a genetic basis for variable escape from XCI and highlight the potential of a population genomics approach to identify genes involved in XCI.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Luijk R,Wu H,Ward-Caviness CK,Hannon E,Carnero-Montoro E,Min JL,Mandaviya P,Müller-Nurasyid M,Mei H,van der Maarel SM,BIOS Consortium.,Relton C,Mill J,Waldenberger M,Bell JT,Jansen R,Zhernakova A,Franke L,'t Hoen PACdoi
10.1038/s41467-018-05714-3subject
Has Abstractpub_date
2018-09-14 00:00:00pages
3738issue
1issn
2041-1723pii
10.1038/s41467-018-05714-3journal_volume
9pub_type
杂志文章abstract::Polymorphism is a remarkable concept in chemistry, materials science, computer science, and biology. Whether it is the ability of a material to exist in two or more crystal structures, a single interface connecting to two different entities, or alternative phenotypes of an organism, polymorphism determines function an...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-03160-9
更新日期:2018-02-19 00:00:00
abstract::There is no agnostic GWAS evidence for the genetic control of IL-1β expression in periodontal disease. Here we report a GWAS for "high" gingival crevicular fluid IL-1β expression among 4910 European-American adults and identify association signals in the IL37 locus. rs3811046 at this locus (p = 3.3 × 10-22) is associa...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-05940-9
更新日期:2018-09-11 00:00:00
abstract::Many phenomena occurring in strongly correlated quantum systems still await conclusive explanations. The absence of isolated free quarks in nature is an example. It is attributed to quark confinement, whose origin is not yet understood. The phase diagram for nuclear matter at general temperatures and densities, studie...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms3615
更新日期:2013-01-01 00:00:00
abstract::Genomic and phenotypic analyses indicate extensive intra- as well as intertumoral heterogeneity in primary human malignant cell populations despite their clonal origin. Cellular DNA barcoding offers a powerful and unbiased alternative to track the number and size of multiple subclones within a single human tumour xeno...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms6871
更新日期:2014-12-23 00:00:00
abstract::Kevin J. Cao and Richard H. Kramer, who developed extended release with beta cyclodextrin, were inadvertently omitted from the author list and author contributions section of this Article. These errors have now been corrected in both the PDF and HTML versions of the Article. ...
journal_title:Nature communications
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41467-018-03585-2
更新日期:2018-03-13 00:00:00
abstract::The quiescent centre (QC) in the Arabidopsis root apical meristem is essential for stem cell organization. Here we show that the loss of REPRESSOR OF WUSCHEL1 (ROW1), a PHD domain-containing protein, leads to QC failure, defects in cell differentiation and ectopic expression of WUSCHEL-RELATED HOMEOBOX 5 (WOX5) in cel...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms7003
更新日期:2015-01-29 00:00:00
abstract::Chronic inflammation has been proposed as having a prominent role in the construction of social inequalities in health. Disentangling the effects of early life and adulthood social disadvantage on inflammation is key in elucidating biological mechanisms underlying socioeconomic disparities. Here we explore the relatio...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-08732-x
更新日期:2019-02-15 00:00:00
abstract::With the development of ultrafast electron and X-ray sources it is becoming possible to study structural dynamics with atomic-level spatial and temporal resolution. Because of their short mean free path, electrons are particularly well suited for investigating surfaces and thin films, such as the challenging and impor...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms2700
更新日期:2013-01-01 00:00:00
abstract::Rising demand for ruminant meat and dairy products in developing countries is expected to double anthropogenic greenhouse gas and ammonia emissions from livestock by 2050. Mitigation strategies are urgently needed to meet demand while minimizing environmental impacts. Here, we develop scenarios for mitigating emission...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-06381-0
更新日期:2018-10-08 00:00:00
abstract::Chiral metal complexes show promise as asymmetric catalysts and optical materials. Chiral-at-metal complexes composed of achiral ligands have expanded the versatility and applicability of chiral metal complexes, especially for octahedral and half-sandwich complexes. However, Werner-type tetrahedral complexes with a st...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-20074-7
更新日期:2020-12-09 00:00:00
abstract::Upon muscle injury, the high mobility group box 1 (HMGB1) protein is upregulated and secreted to initiate reparative responses. Here we show that HMGB1 controls myogenesis both in vitro and in vivo during development and after adult muscle injury. HMGB1 expression in muscle cells is regulated at the translational leve...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms3388
更新日期:2013-01-01 00:00:00
abstract::The costs for solar photovoltaics, wind, and battery storage have dropped markedly since 2010, however, many recent studies and reports around the world have not adequately captured such dramatic decrease. Those costs are projected to decline further in the near future, bringing new prospects for the widespread penetr...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-16184-x
更新日期:2020-05-19 00:00:00
abstract::The bacterial effector MavC catalyzes non-canonical ubiquitination of host E2 enzyme UBE2N without engaging any of the conventional ubiquitination machinery, thereby abolishing UBE2N's function in forming K63-linked ubiquitin (Ub) chains and dampening NF-кB signaling. We now report the structures of MavC in complex wi...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-16587-w
更新日期:2020-06-02 00:00:00
abstract::Infrared light detection and sensing is deeply embedded in modern technology and human society and its development has always been benefitting from the discovery of various photoelectric materials. The rise of two-dimensional materials, thanks to their distinct electronic structures, extreme dimensional confinement an...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-05874-2
更新日期:2018-08-17 00:00:00
abstract::SIRT1, the founding member of the mammalian family of seven NAD(+)-dependent sirtuins, is composed of 747 amino acids forming a catalytic domain and extended N- and C-terminal regions. We report the design and characterization of an engineered human SIRT1 construct (mini-hSIRT1) containing the minimal structural eleme...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms8645
更新日期:2015-07-02 00:00:00
abstract::The ubiquitous SAR11 and Prochlorococcus bacteria manage to maintain a sufficient supply of phosphate in phosphate-poor surface waters of the North Atlantic subtropical gyre. Furthermore, it seems that their phosphate uptake may counter-intuitively be lower in more productive tropical waters, as if their cellular dema...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms8878
更新日期:2015-07-22 00:00:00
abstract::Controlling the domain size and degree of crystallization in organic films is highly important for electronic applications such as organic photovoltaics, but suitable nanoscale mapping is very difficult. Here we apply infrared-spectroscopic nano-imaging to directly determine the local crystallinity of organic thin fil...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms5101
更新日期:2014-06-11 00:00:00
abstract::Acid sphingomyelinase (ASMase, ASM, SMPD1) converts sphingomyelin into ceramide, modulating membrane properties and signal transduction. Inactivating mutations in ASMase cause Niemann-Pick disease, and its inhibition is also beneficial in models of depression and cancer. To gain a better understanding of this critical...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms12196
更新日期:2016-07-20 00:00:00
abstract::D-Glucosamine (GlcN) is a freely available and commonly used dietary supplement potentially promoting cartilage health in humans, which also acts as an inhibitor of glycolysis. Here we show that GlcN, independent of the hexosamine pathway, extends Caenorhabditis elegans life span by impairing glucose metabolism that a...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms4563
更新日期:2014-04-08 00:00:00
abstract::Patterns in biomass production are determined by resource input (productivity) and trophic transfer efficiency. At fixed resource input, variation in consumer biomass production has been related to food quality, metabolic type and diversity among species. In contrast, intraspecific variation in individual body size be...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms7441
更新日期:2015-03-04 00:00:00
abstract::Robust surveillance methods are needed for trachoma control and recrudescence monitoring, but existing methods have limitations. Here, we analyse data from nine trachoma-endemic populations and provide operational thresholds for interpretation of serological data in low-transmission and post-elimination settings. Anal...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-07852-0
更新日期:2018-12-21 00:00:00
abstract::The Paris Agreement set a goal to keep global warming well below 2 °C and pursue efforts to limit it to 1.5 °C. Understanding how 0.5 °C less warming reduces impacts and risks is key for climate policies. Here, we show that both areal and population exposures to dangerous extreme precipitation events (e.g., once in 10...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-05633-3
更新日期:2018-08-08 00:00:00
abstract::Epilepsy is a common brain disorder throughout history. Epilepsy-related ligand-receptor complex, LGI1-ADAM22, regulates synaptic transmission and has emerged as a determinant of brain excitability, as their mutations and acquired LGI1 autoantibodies cause epileptic disorders in human. Here, we report the crystal stru...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-03947-w
更新日期:2018-04-18 00:00:00
abstract::Connection of tubules into larger networks is the key process for the development of circulatory systems. In Drosophila development, tip cells of the tracheal system lead the migration of each branch and connect tubules by adhering to each other and simultaneously changing into a torus-shape. We show that as adhesion ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms11141
更新日期:2016-04-12 00:00:00
abstract::Even as the study of plant genomics rapidly develops through the use of high-throughput sequencing techniques, traditional plant phenotyping lags far behind. Here we develop a high-throughput rice phenotyping facility (HRPF) to monitor 13 traditional agronomic traits and 2 newly defined traits during the rice growth p...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms6087
更新日期:2014-10-08 00:00:00
abstract::Hydrogen can facilitate the detachment of protective oxide layer off metals and alloys. The degradation is usually exacerbated at elevated temperatures in many industrial applications; however, its origin remains poorly understood. Here by heating hydrogenated aluminium inside an environmental transmission electron mi...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms14564
更新日期:2017-02-20 00:00:00
abstract::The challenge of monitoring in planta dynamic changes of NADP(H) and NAD(H) redox states at the subcellular level is considered a major obstacle in plant bioenergetics studies. Here, we introduced two circularly permuted yellow fluorescent protein sensors, iNAP and SoNar, into Arabidopsis thaliana to monitor the dynam...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-17056-0
更新日期:2020-06-26 00:00:00
abstract::High-speed light emitters integrated on silicon chips can enable novel architectures for silicon-based optoelectronics, such as on-chip optical interconnects, and silicon photonics. However, conventional light sources based on compound semiconductors face major challenges for their integration with a silicon-based pla...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-03695-x
更新日期:2018-03-29 00:00:00
abstract::CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. We demonstrate that homology-directed repair is rare compared with NHEJ pathway leading to on-target indels and causing u...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-09006-2
更新日期:2019-03-08 00:00:00
abstract::The Sun's activity cycle governs the radiation, particle and magnetic flux in the heliosphere creating hazardous space weather. Decadal-scale variations define space climate and force the Earth's atmosphere. However, predicting the solar cycle is challenging. Current understanding indicates a short window for predicti...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-07690-0
更新日期:2018-12-06 00:00:00