Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.


: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.


Nat Commun


Nature communications


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 CM




Has Abstract


2015-11-02 00:00:00










  • Directional translocation resistance of Zika xrRNA.

    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


    authors: Suma A,Coronel L,Bussi G,Micheletti C

    更新日期:2020-07-27 00:00:00

  • The formation and evolution of Titan's winter polar vortex.

    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


    authors: Teanby NA,Bézard B,Vinatier S,Sylvestre M,Nixon CA,Irwin PGJ,de Kok RJ,Calcutt SB,Flasar FM

    更新日期:2017-11-21 00:00:00

  • A surface-stabilized ozonide triggers bromide oxidation at the aqueous solution-vapour interface.

    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


    authors: Artiglia L,Edebeli J,Orlando F,Chen S,Lee MT,Corral Arroyo P,Gilgen A,Bartels-Rausch T,Kleibert A,Vazdar M,Andres Carignano M,Francisco JS,Shepson PB,Gladich I,Ammann M

    更新日期:2017-09-26 00:00:00

  • MAIT cells protect against pulmonary Legionella longbeachae infection.

    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


    authors: Wang H,D'Souza C,Lim XY,Kostenko L,Pediongco TJ,Eckle SBG,Meehan BS,Shi M,Wang N,Li S,Liu L,Mak JYW,Fairlie DP,Iwakura Y,Gunnersen JM,Stent AW,Godfrey DI,Rossjohn J,Westall GP,Kjer-Nielsen L,Strugnell RA,McClusk

    更新日期:2018-08-22 00:00:00

  • Identification of serum metabolites associating with chronic kidney disease progression and anti-fibrotic effect of 5-methoxytryptophan.

    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


    authors: Chen DQ,Cao G,Chen H,Argyopoulos CP,Yu H,Su W,Chen L,Samuels DC,Zhuang S,Bayliss GP,Zhao S,Yu XY,Vaziri ND,Wang M,Liu D,Mao JR,Ma SX,Zhao J,Zhang Y,Shang YQ,Kang H,Ye F,Cheng XH,Li XR,Zhang L,Meng MX,G

    更新日期:2019-04-01 00:00:00

  • A diverse intrinsic antibiotic resistome from a cave bacterium.

    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


    authors: Pawlowski AC,Wang W,Koteva K,Barton HA,McArthur AG,Wright GD

    更新日期:2016-12-08 00:00:00

  • eEF2 and Ras-GAP SH3 domain-binding protein (G3BP1) modulate stress granule assembly during HIV-1 infection.

    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


    authors: Valiente-Echeverría F,Melnychuk L,Vyboh K,Ajamian L,Gallouzi IE,Bernard N,Mouland AJ

    更新日期:2014-09-17 00:00:00

  • Layer-specific morphological and molecular differences in neocortical astrocytes and their dependence on neuronal layers.

    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


    authors: Lanjakornsiripan D,Pior BJ,Kawaguchi D,Furutachi S,Tahara T,Katsuyama Y,Suzuki Y,Fukazawa Y,Gotoh Y

    更新日期:2018-04-24 00:00:00

  • Hematopoietic stem and progenitor cell-restricted Cdx2 expression induces transformation to myelodysplasia and acute leukemia.

    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


    authors: Vu T,Straube J,Porter AH,Bywater M,Song A,Ling V,Cooper L,Pali G,Bruedigam C,Jacquelin S,Green J,Magor G,Perkins A,Chalk AM,Walkley CR,Heidel FH,Mukhopadhyay P,Cloonan N,Gröschel S,Mallm JP,Fröhling S,Scholl C,

    更新日期:2020-06-15 00:00:00

  • Shifting transcriptional machinery is required for long-term memory maintenance and modification in Drosophila mushroom bodies.

    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


    authors: Hirano Y,Ihara K,Masuda T,Yamamoto T,Iwata I,Takahashi A,Awata H,Nakamura N,Takakura M,Suzuki Y,Horiuchi J,Okuno H,Saitoe M

    更新日期:2016-11-14 00:00:00

  • Photonic integrated field-programmable disk array signal processor.

    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


    authors: Zhang W,Yao J

    更新日期:2020-01-21 00:00:00

  • Self-cleaning and surface chemical reactions during hafnium dioxide atomic layer deposition on indium arsenide.

    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


    authors: Timm R,Head AR,Yngman S,Knutsson JV,Hjort M,McKibbin SR,Troian A,Persson O,Urpelainen S,Knudsen J,Schnadt J,Mikkelsen A

    更新日期:2018-04-12 00:00:00

  • Probing the active fraction of soil microbiomes using BONCAT-FACS.

    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


    authors: Couradeau E,Sasse J,Goudeau D,Nath N,Hazen TC,Bowen BP,Chakraborty R,Malmstrom RR,Northen TR

    更新日期:2019-06-24 00:00:00

  • Geometry analysis and systematic synthesis of highly porous isoreticular frameworks with a unique topology.

    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


    authors: Zhang YB,Zhou HL,Lin RB,Zhang C,Lin JB,Zhang JP,Chen XM

    更新日期:2012-01-24 00:00:00

  • A RAF-SnRK2 kinase cascade mediates early osmotic stress signaling in higher plants.

    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


    authors: Lin Z,Li Y,Zhang Z,Liu X,Hsu CC,Du Y,Sang T,Zhu C,Wang Y,Satheesh V,Pratibha P,Zhao Y,Song CP,Tao WA,Zhu JK,Wang P

    更新日期:2020-01-30 00:00:00

  • Adaptive resistance to therapeutic PD-1 blockade is associated with upregulation of alternative immune checkpoints.

    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


    authors: Koyama S,Akbay EA,Li YY,Herter-Sprie GS,Buczkowski KA,Richards WG,Gandhi L,Redig AJ,Rodig SJ,Asahina H,Jones RE,Kulkarni MM,Kuraguchi M,Palakurthi S,Fecci PE,Johnson BE,Janne PA,Engelman JA,Gangadharan SP,Costa DB,

    更新日期:2016-02-17 00:00:00

  • Proteomic atlas of organ vasculopathies triggered by Staphylococcus aureus sepsis.

    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


    authors: Toledo AG,Golden G,Campos AR,Cuello H,Sorrentino J,Lewis N,Varki N,Nizet V,Smith JW,Esko JD

    更新日期:2019-10-11 00:00:00

  • Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression.

    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


    authors: Zhu GF,Xu YW,Li J,Niu HL,Ma WX,Xu J,Zhou PR,Liu X,Ye DL,Liu XR,Yan T,Zhai WK,Xu ZJ,Liu C,Wang L,Wang H,Luo JM,Liu L,Li XQ,Guo S,Jiang HP,Shen P,Lin HK,Yu DH,Ding YQ,Zhang QL

    更新日期:2019-01-10 00:00:00

  • Graphene chiral liquid crystals and macroscopic assembled fibres.

    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


    authors: Xu Z,Gao C

    更新日期:2011-12-06 00:00:00

  • Long-range transport of airborne microbes over the global tropical and subtropical ocean.

    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


    authors: Mayol E,Arrieta JM,Jiménez MA,Martínez-Asensio A,Garcias-Bonet N,Dachs J,González-Gaya B,Royer SJ,Benítez-Barrios VM,Fraile-Nuez E,Duarte CM

    更新日期:2017-08-04 00:00:00

  • Cascading ecological effects of eliminating fishery discards.

    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


    authors: Heath MR,Cook RM,Cameron AI,Morris DJ,Speirs DC

    更新日期:2014-05-13 00:00:00

  • Functional crosstalk between histone H2B ubiquitylation and H2A modifications and variants.

    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


    authors: Wojcik F,Dann GP,Beh LY,Debelouchina GT,Hofmann R,Muir TW

    更新日期:2018-04-11 00:00:00

  • Two-dimensional metallic tantalum disulfide as a hydrogen evolution catalyst.

    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


    authors: Shi J,Wang X,Zhang S,Xiao L,Huan Y,Gong Y,Zhang Z,Li Y,Zhou X,Hong M,Fang Q,Zhang Q,Liu X,Gu L,Liu Z,Zhang Y

    更新日期:2017-10-16 00:00:00

  • Outlines of the pore in open and closed conformations describe the gating mechanism of ASIC1.

    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


    authors: Li T,Yang Y,Canessa CM

    更新日期:2011-07-19 00:00:00

  • Visible light-induced direct α C-H functionalization of alcohols.

    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


    authors: Niu L,Liu J,Liang XA,Wang S,Lei A

    更新日期:2019-01-28 00:00:00

  • Si:P as a laboratory analogue for hydrogen on high magnetic field white dwarf stars.

    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


    authors: Murdin BN,Li J,Pang ML,Bowyer ET,Litvinenko KL,Clowes SK,Engelkamp H,Pidgeon CR,Galbraith I,Abrosimov NV,Riemann H,Pavlov SG,Hübers HW,Murdin PG

    更新日期:2013-01-01 00:00:00

  • A clustering-independent method for finding differentially expressed genes in single-cell transcriptome data.

    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


    authors: Vandenbon A,Diez D

    更新日期:2020-08-28 00:00:00

  • Fast kinetics of multivalent intercalation chemistry enabled by solvated magnesium-ions into self-established metallic layered materials.

    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


    authors: Li Z,Mu X,Zhao-Karger Z,Diemant T,Behm RJ,Kübel C,Fichtner M

    更新日期:2018-11-30 00:00:00

  • Representing the function and sensitivity of coastal interfaces in Earth system models.

    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


    authors: Ward ND,Megonigal JP,Bond-Lamberty B,Bailey VL,Butman D,Canuel EA,Diefenderfer H,Ganju NK,Goñi MA,Graham EB,Hopkinson CS,Khangaonkar T,Langley JA,McDowell NG,Myers-Pigg AN,Neumann RB,Osburn CL,Price RM,Rowland J,Sen

    更新日期:2020-05-18 00:00:00

  • Specific hippocampal representations are linked to generalized cortical representations in memory.

    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


    authors: Yu JY,Liu DF,Loback A,Grossrubatscher I,Frank LM

    更新日期:2018-06-07 00:00:00