Abstract:
:Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families. RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome. Strikingly, all six of the Roifman Syndrome cases have one variant that overlaps MOPD1-implicated structural elements, while the other variant overlaps a highly conserved structural element not previously implicated in disease. RNA-seq analysis confirms extensive and specific defects of minor intron splicing. Available allele frequency data suggest that recessive genetic disorders caused by RNU4ATAC rare variants may be more prevalent than previously reported.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Merico D,Roifman M,Braunschweig U,Yuen RK,Alexandrova R,Bates A,Reid B,Nalpathamkalam T,Wang Z,Thiruvahindrapuram B,Gray P,Kakakios A,Peake J,Hogarth S,Manson D,Buncic R,Pereira SL,Herbrick JA,Blencowe BJ,Roifman CMdoi
10.1038/ncomms9718subject
Has Abstractpub_date
2015-11-02 00:00:00pages
8718issn
2041-1723pii
ncomms9718journal_volume
6pub_type
杂志文章abstract::xrRNAs from flaviviruses survive in host cells because of their exceptional dichotomic response to the unfolding action of different enzymes. They can be unwound, and hence copied, by replicases, and yet can resist degradation by exonucleases. How the same stretch of xrRNA can encode such diverse responses is an open ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-17508-7
更新日期:2020-07-27 00:00:00
abstract::Saturn's largest moon Titan has a substantial nitrogen-methane atmosphere, with strong seasonal effects, including formation of winter polar vortices. Following Titan's 2009 northern spring equinox, peak solar heating moved to the northern hemisphere, initiating south-polar subsidence and winter polar vortex formation...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-017-01839-z
更新日期:2017-11-21 00:00:00
abstract::Oxidation of bromide in aqueous environments initiates the formation of molecular halogen compounds, which is important for the global tropospheric ozone budget. In the aqueous bulk, oxidation of bromide by ozone involves a [Br•OOO-] complex as intermediate. Here we report liquid jet X-ray photoelectron spectroscopy m...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-017-00823-x
更新日期:2017-09-26 00:00:00
abstract::Mucosal associated invariant T (MAIT) cells recognise conserved microbial metabolites from riboflavin synthesis. Striking evolutionary conservation and pulmonary abundance implicate them in antibacterial host defence, yet their functions in protection against clinically important pathogens are unknown. Here we show th...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-05202-8
更新日期:2018-08-22 00:00:00
abstract::Early detection and accurate monitoring of chronic kidney disease (CKD) could improve care and retard progression to end-stage renal disease. Here, using untargeted metabolomics in 2155 participants including patients with stage 1-5 CKD and healthy controls, we identify five metabolites, including 5-methoxytryptophan ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-09329-0
更新日期:2019-04-01 00:00:00
abstract::Antibiotic resistance is ancient and widespread in environmental bacteria. These are therefore reservoirs of resistance elements and reflective of the natural history of antibiotics and resistance. In a previous study, we discovered that multi-drug resistance is common in bacteria isolated from Lechuguilla Cave, an un...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms13803
更新日期:2016-12-08 00:00:00
abstract::Stress granules (SG) are translationally silent sites of RNA triage induced by environmental stresses including viral infection. Here we show that HIV-1 Gag blocks SG assembly irrespective of eIF2α phosphorylation and even when SG assembly is forced by overexpression of Ras-GAP SH3 domain-binding protein (G3BP1) or TI...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms5819
更新日期:2014-09-17 00:00:00
abstract::Non-pial neocortical astrocytes have historically been thought to comprise largely a nondiverse population of protoplasmic astrocytes. Here we show that astrocytes of the mouse somatosensory cortex manifest layer-specific morphological and molecular differences. Two- and three-dimensional observations revealed that as...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-03940-3
更新日期:2018-04-24 00:00:00
abstract::The caudal-related homeobox transcription factor CDX2 is expressed in leukemic cells but not during normal blood formation. Retroviral overexpression of Cdx2 induces AML in mice, however the developmental stage at which CDX2 exerts its effect is unknown. We developed a conditionally inducible Cdx2 mouse model to deter...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-16840-2
更新日期:2020-06-15 00:00:00
abstract::Accumulating evidence suggests that transcriptional regulation is required for maintenance of long-term memories (LTMs). Here we characterize global transcriptional and epigenetic changes that occur during LTM storage in the Drosophila mushroom bodies (MBs), structures important for memory. Although LTM formation requ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms13471
更新日期:2016-11-14 00:00:00
abstract::Thanks to the nature of strong programmability, field-programmable gate arrays (FPGAs) have been playing a significant role in signal processing and control. With the explosive growth in digital data, big data analytics becomes an important emerging field, in which FPGAs are a major player. However, the computational ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-14249-0
更新日期:2020-01-21 00:00:00
abstract::Atomic layer deposition (ALD) enables the ultrathin high-quality oxide layers that are central to all modern metal-oxide-semiconductor circuits. Crucial to achieving superior device performance are the chemical reactions during the first deposition cycle, which could ultimately result in atomic-scale perfection of the...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-03855-z
更新日期:2018-04-12 00:00:00
abstract::The ability to link soil microbial diversity to soil processes requires technologies that differentiate active microbes from extracellular DNA and dormant cells. Here, we use BONCAT (bioorthogonal non-canonical amino acid tagging) to measure translationally active cells in soils. We compare the active population of tw...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-10542-0
更新日期:2019-06-24 00:00:00
abstract::Porous coordination polymers are well known for their easily tailored framework structures and corresponding properties. Although systematic modulations of pore sizes of binary prototypes have gained great success, simultaneous adjustment of both pore size and shape of ternary prototypes remains unexplored, owing to t...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms1654
更新日期:2012-01-24 00:00:00
abstract::Osmoregulation is important for plant growth, development and response to environmental changes. SNF1-related protein kinase 2s (SnRK2s) are quickly activated by osmotic stress and are central components in osmotic stress and abscisic acid (ABA) signaling pathways; however, the upstream components required for SnRK2 a...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-14477-9
更新日期:2020-01-30 00:00:00
abstract::Despite compelling antitumour activity of antibodies targeting the programmed death 1 (PD-1): programmed death ligand 1 (PD-L1) immune checkpoint in lung cancer, resistance to these therapies has increasingly been observed. In this study, to elucidate mechanisms of adaptive resistance, we analyse the tumour immune mic...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms10501
更新日期:2016-02-17 00:00:00
abstract::Sepsis is a life-threatening condition triggered by a dysregulated host response to microbial infection resulting in vascular dysfunction, organ failure and death. Here we provide a semi-quantitative atlas of the murine vascular cell-surface proteome at the organ level, and how it changes during sepsis. Using in vivo ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-12672-x
更新日期:2019-10-11 00:00:00
abstract::Wilms tumor gene on the X chromosome (WTX) is a putative tumor suppressor gene in Wilms tumor, but its expression and functions in other tumors are unclear. Colorectal cancer (CRC) is the third leading cause of cancer-related deaths in women and the second leading cause in men in the United States. We demonstrated tha...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-07998-x
更新日期:2019-01-10 00:00:00
abstract::Chirality and liquid crystals are both widely expressed in nature and biology. Helical assembly of mesophasic molecules and colloids may produce intriguing chiral liquid crystals. To date, chiral liquid crystals of 2D colloids have not been explored. As a typical 2D colloid, graphene is now receiving unprecedented att...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms1583
更新日期:2011-12-06 00:00:00
abstract::The atmosphere plays a fundamental role in the transport of microbes across the planet but it is often neglected as a microbial habitat. Although the ocean represents two thirds of the Earth's surface, there is little information on the atmospheric microbial load over the open ocean. Here we provide a global estimate ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-017-00110-9
更新日期:2017-08-04 00:00:00
abstract::Discarding by fisheries is perceived as contrary to responsible harvesting. Legislation seeking to end the practice is being introduced in many jurisdictions. However, discarded fish are food for a range of scavenging species; so, ending discarding may have ecological consequences. Here we investigate the sensitivity ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms4893
更新日期:2014-05-13 00:00:00
abstract::Ubiquitylation of histone H2B at lysine residue 120 (H2BK120ub) is a prominent histone posttranslational modification (PTM) associated with the actively transcribed genome. Although H2BK120ub triggers several critical downstream histone modification pathways and changes in chromatin structure, less is known about the ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-03895-5
更新日期:2018-04-11 00:00:00
abstract::Two-dimensional metallic transition metal dichalcogenides are emerging as prototypes for uncovering fundamental physical phenomena, such as superconductivity and charge-density waves, as well as for engineering-related applications. However, the batch production of such envisioned transition metal dichalcogenides rema...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-017-01089-z
更新日期:2017-10-16 00:00:00
abstract::The proton-activated sodium channel ASIC1 belongs to the ENaC/Degenerins family of ion channels. Little is known about gating of the pore in any member of this class. Here we outline the shape of the ion pathway of ASIC1 in the open and closed conformations by measuring apparent rates of cysteine modification by thiol...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms1409
更新日期:2011-07-19 00:00:00
abstract::Considering the synthetic value of introducing active alcoholic hydroxyl group, developing C-H functionalization of alcohols is of significance. Herein, we present a photochemical method that under visible light irradiation, selectfluor can effectively promote the oxidative cross-coupling between alcohols and heteroar...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-08413-9
更新日期:2019-01-28 00:00:00
abstract::Laboratory spectroscopy of atomic hydrogen in a magnetic flux density of 10(5) T (1 gigagauss), the maximum observed on high-field magnetic white dwarfs, is impossible because practically available fields are about a thousand times less. In this regime, the cyclotron and binding energies become equal. Here we demonstr...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms2466
更新日期:2013-01-01 00:00:00
abstract::A common analysis of single-cell sequencing data includes clustering of cells and identifying differentially expressed genes (DEGs). How cell clusters are defined has important consequences for downstream analyses and the interpretation of results, but is often not straightforward. To address this difficulty, we prese...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-17900-3
更新日期:2020-08-28 00:00:00
abstract::Rechargeable magnesium batteries are one of the most promising candidates for next-generation battery technologies. Despite recent significant progress in the development of efficient electrolytes, an on-going challenge for realization of rechargeable magnesium batteries remains to overcome the sluggish kinetics cause...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-07484-4
更新日期:2018-11-30 00:00:00
abstract::Between the land and ocean, diverse coastal ecosystems transform, store, and transport material. Across these interfaces, the dynamic exchange of energy and matter is driven by hydrological and hydrodynamic processes such as river and groundwater discharge, tides, waves, and storms. These dynamics regulate ecosystem f...
journal_title:Nature communications
pub_type: 杂志文章,评审
doi:10.1038/s41467-020-16236-2
更新日期:2020-05-18 00:00:00
abstract::Memories link information about specific experiences to more general knowledge that is abstracted from and contextualizes those experiences. Hippocampal-cortical activity patterns representing features of past experience are reinstated during awake memory reactivation events, but whether representations of both specif...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-04498-w
更新日期:2018-06-07 00:00:00