当前位置： SCI文献检索 > Nature Communications期刊下所有文献 > RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.

Abstract：

:Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability. The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a major role. We identified a homozygous missense mutation (p.W155C) in Ribosomal RNA Processing 7 Homolog A, RRP7A, segregating with MCPH in a consanguineous family with 10 affected individuals. RRP7A is highly expressed in neural stem cells in developing human forebrain, and targeted mutation of Rrp7a leads to defects in neurogenesis and proliferation in a mouse stem cell model. RRP7A localizes to centrosomes, cilia and nucleoli, and patient-derived fibroblasts display defects in ribosomal RNA processing, primary cilia resorption, and cell cycle progression. Analysis of zebrafish embryos supported that the patient mutation in RRP7A causes reduced brain size, impaired neurogenesis and cell proliferation, and defective ribosomal RNA processing. These findings provide novel insight into human brain development and MCPH.

journal_name

Nat Commun

journal_title

Nature communications

authors

Farooq M,Lindbæk L,Krogh N,Doganli C,Keller C,Mönnich M,Gonçalves AB,Sakthivel S,Mang Y,Fatima A,Andersen VS,Hussain MS,Eiberg H,Hansen L,Kjaer KW,Gopalakrishnan J,Pedersen LB,Møllgård K,Nielsen H,Baig SM,Tommerup

doi

10.1038/s41467-020-19658-0

subject

Has Abstract

pub_date

2020-11-16 00:00:00

pages

5816

issue

1

issn

2041-1723

pii

10.1038/s41467-020-19658-0

journal_volume

11

pub_type

杂志文章

相关文献

Nature Communications文献大全
  • Author Correction: Excitotoxic inactivation of constitutive oxidative stress detoxification pathway in neurons can be rescued by PKD1.

    abstract：:The original version of this Article contained an error in the spelling of the author Álvaro Sebastián-Serrano, which was incorrectly given as Álvaro Sebastián Serrano. This has 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/s41467-018-03022-4

    authors： Pose-Utrilla J,García-Guerra L,Del Puerto A,Martín A,Jurado-Arjona J,De León-Reyes NS,Gamir-Morralla A,Sebastián-Serrano Á,García-Gallo M,Kremer L,Fielitz J,Ireson C,Pérez-Álvarez MJ,Ferrer I,Hernández F,Ávila J,Lasa M,

    更新日期：2018-01-30 00:00:00

  • Structures of Pup ligase PafA and depupylase Dop from the prokaryotic ubiquitin-like modification pathway.

    abstract：:Pupylation is a posttranslational protein modification occurring in mycobacteria and other actinobacteria that is functionally analogous to ubiquitination. Here we report the crystal structures of the modification enzymes involved in this pathway, the prokaryotic ubiquitin-like protein (Pup) ligase PafA and the depupy...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms2009

    authors： Özcelik D,Barandun J,Schmitz N,Sutter M,Guth E,Damberger FF,Allain FH,Ban N,Weber-Ban E

    更新日期：2012-01-01 00:00:00

  • S-nitrosylation triggers ABI5 degradation to promote seed germination and seedling growth.

    abstract：:Plant survival depends on seed germination and progression through post-germinative developmental checkpoints. These processes are controlled by the stress phytohormone abscisic acid (ABA). ABA regulates the basic leucine zipper transcriptional factor ABI5, a central hub of growth repression, while the reactive nitrog...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms9669

    authors： Albertos P,Romero-Puertas MC,Tatematsu K,Mateos I,Sánchez-Vicente I,Nambara E,Lorenzo O

    更新日期：2015-10-23 00:00:00

  • Source-device-independent heterodyne-based quantum random number generator at 17 Gbps.

    abstract：:Random numbers are commonly used in many different fields, ranging from simulations in fundamental science to security applications. In some critical cases, as Bell's tests and cryptography, the random numbers are required to be both private and to be provided at an ultra-fast rate. However, practical generators are u...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-018-07585-0

    authors： Avesani M,Marangon DG,Vallone G,Villoresi P

    更新日期：2018-12-18 00:00:00

  • PD-1 blockade potentiates HIV latency reversal ex vivo in CD4+ T cells from ART-suppressed individuals.

    abstract：:HIV persists in latently infected CD4+ T cells during antiretroviral therapy (ART). Immune checkpoint molecules, including PD-1, are preferentially expressed at the surface of persistently infected cells. However, whether PD-1 plays a functional role in HIV latency and reservoir persistence remains unknown. Using CD4+...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-08798-7

    authors： Fromentin R,DaFonseca S,Costiniuk CT,El-Far M,Procopio FA,Hecht FM,Hoh R,Deeks SG,Hazuda DJ,Lewin SR,Routy JP,Sékaly RP,Chomont N

    更新日期：2019-02-18 00:00:00

  • Surpassing the single-atom catalytic activity limit through paired Pt-O-Pt ensemble built from isolated Pt1 atoms.

    abstract：:Despite the maximized metal dispersion offered by single-atom catalysts, further improvement of intrinsic activity can be hindered by the lack of neighboring metal atoms in these systems. Here we report the use of isolated Pt1 atoms on ceria as "seeds" to develop a Pt-O-Pt ensemble, which is well-represented by a Pt8O...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-11856-9

    authors： Wang H,Liu JX,Allard LF,Lee S,Liu J,Li H,Wang J,Wang J,Oh SH,Li W,Flytzani-Stephanopoulos M,Shen M,Goldsmith BR,Yang M

    更新日期：2019-08-23 00:00:00

  • The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice.

    abstract：:Post-translational protein modifications are systems designed to expand restricted genomic information through functional conversion of target molecules. Ubiquitin-like post-translational modifiers regulate numerous cellular events through their covalent linkages to target protein(s) by an enzymatic cascade analogous ...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms1182

    authors： Tatsumi K,Yamamoto-Mukai H,Shimizu R,Waguri S,Sou YS,Sakamoto A,Taya C,Shitara H,Hara T,Chung CH,Tanaka K,Yamamoto M,Komatsu M

    更新日期：2011-02-08 00:00:00

  • Landscape topography structures the soil microbiome in arctic polygonal tundra.

    abstract：:In the Arctic, environmental factors governing microbial degradation of soil carbon (C) in active layer and permafrost are poorly understood. Here we determined the functional potential of soil microbiomes horizontally and vertically across a cryoperturbed polygonal landscape in Alaska. With comparative metagenomics, ...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-018-03089-z

    authors： Taş N,Prestat E,Wang S,Wu Y,Ulrich C,Kneafsey T,Tringe SG,Torn MS,Hubbard SS,Jansson JK

    更新日期：2018-02-22 00:00:00

  • The deuterium/hydrogen distribution in chondritic organic matter attests to early ionizing irradiation.

    abstract：:Primitive carbonaceous chondrites contain a large array of organic compounds dominated by insoluble organic matter (IOM). A striking feature of this IOM is the systematic enrichment in deuterium compared with the solar hydrogen reservoir. This enrichment has been taken as a sign of low-temperature ion-molecule or gas-...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms9567

    authors： Laurent B,Roskosz M,Remusat L,Robert F,Leroux H,Vezin H,Depecker C,Nuns N,Lefebvre JM

    更新日期：2015-10-13 00:00:00

  • The central role of EED in the orchestration of polycomb group complexes.

    abstract：:Polycomb repressive complexes 1 and 2 (PRC1 and 2) play a critical role in the epigenetic regulation of transcription during cellular differentiation, stem cell pluripotency and neoplastic progression. Here we show that the polycomb group protein EED, a core component of PRC2, physically interacts with and functions a...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms4127

    authors： Cao Q,Wang X,Zhao M,Yang R,Malik R,Qiao Y,Poliakov A,Yocum AK,Li Y,Chen W,Cao X,Jiang X,Dahiya A,Harris C,Feng FY,Kalantry S,Qin ZS,Dhanasekaran SM,Chinnaiyan AM

    更新日期：2014-01-01 00:00:00

  • Regional boreal biodiversity peaks at intermediate human disturbance.

    abstract：:The worldwide biodiversity crisis has intensified the need to better understand how biodiversity and human disturbance are related. The 'intermediate disturbance hypothesis' suggests that disturbance regimes generate predictable non-linear patterns in species richness. Evidence often contradicts intermediate disturban...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms2145

    authors： Mayor SJ,Cahill JF Jr,He F,Sólymos P,Boutin S

    更新日期：2012-01-01 00:00:00

  • Atomic dispensers for thermoplasmonic control of alkali vapor pressure in quantum optical applications.

    abstract：:Alkali metal vapors enable access to single electron systems, suitable for demonstrating fundamental light-matter interactions and promising for quantum logic operations, storage and sensing. However, progress is hampered by the need for robust and repeatable control over the atomic vapor density and over the associat...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-10158-4

    authors： Rusimova KR,Slavov D,Pradaux-Caggiano F,Collins JT,Gordeev SN,Carbery DR,Wadsworth WJ,Mosley PJ,Valev VK

    更新日期：2019-05-24 00:00:00

  • Targeting VEGF-A in myeloid cells enhances natural killer cell responses to chemotherapy and ameliorates cachexia.

    abstract：:Chemotherapy remains a mainstay of cancer treatment but its use is often limited by the development of adverse reactions. Severe loss of body weight (cachexia) is a frequent cause of death in cancer patients and is exacerbated by chemotherapy. We show that genetic inactivation of vascular endothelial growth factor (VE...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms12528

    authors： Klose R,Krzywinska E,Castells M,Gotthardt D,Putz EM,Kantari-Mimoun C,Chikdene N,Meinecke AK,Schrödter K,Helfrich I,Fandrey J,Sexl V,Stockmann C

    更新日期：2016-08-19 00:00:00

  • Genetic mapping and evolutionary analysis of human-expanded cognitive networks.

    abstract：:Cognitive brain networks such as the default-mode network (DMN), frontoparietal network, and salience network, are key functional networks of the human brain. Here we show that the rapid evolutionary cortical expansion of cognitive networks in the human brain, and most pronounced the DMN, runs parallel with high expre...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-12764-8

    authors： Wei Y,de Lange SC,Scholtens LH,Watanabe K,Ardesch DJ,Jansen PR,Savage JE,Li L,Preuss TM,Rilling JK,Posthuma D,van den Heuvel MP

    更新日期：2019-10-24 00:00:00

  • Social networks and risk of delayed hospital arrival after acute stroke.

    abstract：:Arriving rapidly to the hospital after a heart attack or stroke is critical for patients to be within time windows for treatment. Prior research in heart attacks has suggested a paradoxical role of the social environment: those who arrive early are surrounded by nonrelatives, while those who arrive late are surrounded...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-09073-5

    authors： Dhand A,Luke D,Lang C,Tsiaklides M,Feske S,Lee JM

    更新日期：2019-03-14 00:00:00

  • Overcoming evanescent field decay using 3D-tapered nanocavities for on-chip targeted molecular analysis.

    abstract：:Enhancement of optical emission on plasmonic nanostructures is intrinsically limited by the distance between the emitter and nanostructure surface, owing to a tightly-confined and exponentially-decaying electromagnetic field. This fundamental limitation prevents efficient application of plasmonic fluorescence enhancem...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-020-16813-5

    authors： Kumar S,Park H,Cho H,Siddique RH,Narasimhan V,Yang D,Choo H

    更新日期：2020-06-10 00:00:00

  • Efficient direct solar-to-hydrogen conversion by in situ interface transformation of a tandem structure.

    abstract：:Photosynthesis is nature's route to convert intermittent solar irradiation into storable energy, while its use for an industrial energy supply is impaired by low efficiency. Artificial photosynthesis provides a promising alternative for efficient robust carbon-neutral renewable energy generation. The approach of direc...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms9286

    authors： May MM,Lewerenz HJ,Lackner D,Dimroth F,Hannappel T

    更新日期：2015-09-15 00:00:00

  • Noncoding dsRNA induces retinoic acid synthesis to stimulate hair follicle regeneration via TLR3.

    abstract：:How developmental programs reactivate in regeneration is a fundamental question in biology. We addressed this question through the study of Wound Induced Hair follicle Neogenesis (WIHN), an adult organogenesis model where stem cells regenerate de novo hair follicles following deep wounding. The exact mechanism is unce...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-10811-y

    authors： Kim D,Chen R,Sheu M,Kim N,Kim S,Islam N,Wier EM,Wang G,Li A,Park A,Son W,Evans B,Yu V,Prizmic VP,Oh E,Wang Z,Yu J,Huang W,Archer NK,Hu Z,Clemetson N,Nelson AM,Chien A,Okoye GA,Miller LS,Ghiaur G,Kang S

    更新日期：2019-06-26 00:00:00

  • Phosphatidylserine exposure is required for ADAM17 sheddase function.

    abstract：:ADAM17, a prominent member of the 'Disintegrin and Metalloproteinase' (ADAM) family, controls vital cellular functions through cleavage of transmembrane substrates. Here we present evidence that surface exposure of phosphatidylserine (PS) is pivotal for ADAM17 to exert sheddase activity. PS exposure is tightly coupled...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms11523

    authors： Sommer A,Kordowski F,Büch J,Maretzky T,Evers A,Andrä J,Düsterhöft S,Michalek M,Lorenzen I,Somasundaram P,Tholey A,Sönnichsen FD,Kunzelmann K,Heinbockel L,Nehls C,Gutsmann T,Grötzinger J,Bhakdi S,Reiss K

    更新日期：2016-05-10 00:00:00

  • PhyloPhlAn is a new method for improved phylogenetic and taxonomic placement of microbes.

    abstract：:New microbial genomes are constantly being sequenced, and it is crucial to accurately determine their taxonomic identities and evolutionary relationships. Here we report PhyloPhlAn, a new method to assign microbial phylogeny and putative taxonomy using >400 proteins optimized from among 3,737 genomes. This method meas...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms3304

    authors： Segata N,Börnigen D,Morgan XC,Huttenhower C

    更新日期：2013-01-01 00:00:00

  • A cocktail of three virulent bacteriophages prevents Vibrio cholerae infection in animal models.

    abstract：:Effective prevention strategies will be essential in reducing disease burden due to bacterial infections. Here we harness the specificity and rapid-acting properties of bacteriophages as a potential prophylaxis therapy for cholera, a severely dehydrating disease caused by Vibrio cholerae. To this end, we test a cockta...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms14187

    authors： Yen M,Cairns LS,Camilli A

    更新日期：2017-02-01 00:00:00

  • Autophagy-mediated apoptosis eliminates aneuploid cells in a mouse model of chromosome mosaicism.

    abstract：:The high incidence of aneuploidy in the embryo is considered the principal cause for low human fecundity. However, the prevalence of aneuploidy dramatically declines as pregnancy progresses, with the steepest drop occurring as the embryo completes implantation. Despite the fact that the plasticity of the embryo in dea...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-020-16796-3

    authors： Singla S,Iwamoto-Stohl LK,Zhu M,Zernicka-Goetz M

    更新日期：2020-06-11 00:00:00

  • Tunable multiphase dynamics of arginine and lysine liquid condensates.

    abstract：:Liquid phase separation into two or more coexisting phases has emerged as a new paradigm for understanding subcellular organization, prebiotic life, and the origins of disease. The design principles underlying biomolecular phase separation have the potential to drive the development of novel liquid-based organelles an...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-020-18224-y

    authors： Fisher RS,Elbaum-Garfinkle S

    更新日期：2020-09-15 00:00:00

  • Mitochondria-adaptor TRAK1 promotes kinesin-1 driven transport in crowded environments.

    abstract：:Intracellular trafficking of organelles, driven by kinesin-1 stepping along microtubules, underpins essential cellular processes. In absence of other proteins on the microtubule surface, kinesin-1 performs micron-long runs. Under crowding conditions, however, kinesin-1 motility is drastically impeded. It is thus uncle...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-020-16972-5

    authors： Henrichs V,Grycova L,Barinka C,Nahacka Z,Neuzil J,Diez S,Rohlena J,Braun M,Lansky Z

    更新日期：2020-06-19 00:00:00

  • Visualization of exciton transport in ordered and disordered molecular solids.

    abstract：:Transport of nanoscale energy in the form of excitons is at the core of photosynthesis and the operation of a wide range of nanostructured optoelectronic devices such as solar cells, light-emitting diodes and excitonic transistors. Of particular importance is the relationship between exciton transport and nanoscale di...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/ncomms4646

    authors： Akselrod GM,Deotare PB,Thompson NJ,Lee J,Tisdale WA,Baldo MA,Menon VM,Bulović V

    更新日期：2014-04-16 00:00:00

  • Biomimetic design of iridescent insect cuticles with tailored, self-organized cholesteric patterns.

    abstract：:Replicating biological patterns is promising for designing materials with multifaceted properties. Twisted cholesteric liquid crystal patterns are found in the iridescent tessellated cuticles of many insects and a few fruits. Their accurate replication is extremely difficult since discontinuous patterns and colors mus...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-020-17884-0

    authors： Scarangella A,Soldan V,Mitov M

    更新日期：2020-08-14 00:00:00

  • Single cell analysis of human foetal liver captures the transcriptional profile of hepatobiliary hybrid progenitors.

    abstract：:The liver parenchyma is composed of hepatocytes and bile duct epithelial cells (BECs). Controversy exists regarding the cellular origin of human liver parenchymal tissue generation during embryonic development, homeostasis or repair. Here we report the existence of a hepatobiliary hybrid progenitor (HHyP) population i...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-019-11266-x

    authors： Segal JM,Kent D,Wesche DJ,Ng SS,Serra M,Oulès B,Kar G,Emerton G,Blackford SJI,Darmanis S,Miquel R,Luong TV,Yamamoto R,Bonham A,Jassem W,Heaton N,Vigilante A,King A,Sancho R,Teichmann S,Quake SR,Nakauchi H,Rash

    更新日期：2019-07-26 00:00:00

  • Abnormal phase transition between two-dimensional high-density liquid crystal and low-density crystalline solid phases.

    abstract：:Some two-dimensional liquid systems are theoretically predicted to have an anomalous phase transition due to unique intermolecular interactions, for example the first-order transition between two-dimensional high-density water and low-density amorphous ice. However, it has never been experimentally observed, to the be...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-017-02634-6

    authors： Li W,Kong L,Feng B,Fu H,Li H,Zeng XC,Wu K,Chen L

    更新日期：2018-01-15 00:00:00

  • Influence of Tibetan Plateau snow cover on East Asian atmospheric circulation at medium-range time scales.

    abstract：:The responses of atmospheric variability to Tibetan Plateau (TP) snow cover (TPSC) at seasonal, interannual and decadal time scales have been extensively investigated. However, the atmospheric response to faster subseasonal variability of TPSC has been largely ignored. Here, we show that the subseasonal variability of...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-018-06762-5

    authors： Li W,Guo W,Qiu B,Xue Y,Hsu PC,Wei J

    更新日期：2018-10-12 00:00:00

  • Molecular basis for the specific and multivariant recognitions of RNA substrates by human hnRNP A2/B1.

    abstract：:Human hnRNP A2/B1 is an RNA-binding protein that plays important roles in many biological processes, including maturation, transport, and metabolism of mRNA, and gene regulation of long noncoding RNAs. hnRNP A2/B1 was reported to control the microRNAs sorting to exosomes and promote primary microRNA processing as a po...

    journal_title：Nature communications

    pub_type： 杂志文章

    doi：10.1038/s41467-017-02770-z

    authors： Wu B,Su S,Patil DP,Liu H,Gan J,Jaffrey SR,Ma J

    更新日期：2018-01-29 00:00:00