Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Abstract:

:De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different biological hierarchies (gene, biological pathway, cell and brain areas) using bioinformatic approaches. For the majority of the analysis, a combined ASD cohort (N = 2171 trios) was created using previously published data by the Autism Sequencing Consortium (ASC). New plausible candidate genes for ASD such as FMR1 and NFIA were found. In addition, genes harboring PZMs were significantly enriched for miR-137 targets in comparison with germinal DNMs that were enriched in GO terms related to synaptic transmission. The expression pattern of genes with PZMs was restricted to early mid-fetal cortex. In contrast, the analysis of genes with germinal DNMs revealed a spatio-temporal window from early to mid-fetal development stages, with expression in the amygdala, cerebellum, cortex and striatum. These results provide evidence of the pathogenic role of PZMs and suggest the existence of distinct mechanisms between PZMs and germinal DNMs that are influencing ASD risk.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Alonso-Gonzalez A,Calaza M,Amigo J,González-Peñas J,Martínez-Regueiro R,Fernández-Prieto M,Parellada M,Arango C,Rodriguez-Fontenla C,Carracedo A

doi

10.1038/s41598-020-79412-w

subject

Has Abstract

pub_date

2021-01-11 00:00:00

pages

319

issue

1

issn

2045-2322

pii

10.1038/s41598-020-79412-w

journal_volume

11

pub_type

杂志文章
  • Multi-nanolayered VO2/Sapphire Thin Film via Spinodal Decomposition.

    abstract::Coating of VO2-based thin film has been extensively studied for fabricating energy-saving smart windows. One of the most efficient ways for fabricating high performance films is to create multi-nanolayered structure. However, it has been highly challenge to make such layers in the VO2-based films using conventional me...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-23412-4

    authors: Sun G,Cao X,Yue Y,Gao X,Long S,Li N,Li R,Luo H,Jin P

    更新日期:2018-03-28 00:00:00

  • Light guiding and switching using eccentric core-shell geometries.

    abstract::High Refractive Index (HRI) dielectric nanoparticles have been proposed as an alternative to metallic ones due to their low absorption and magnetodielectric response in the VIS and NIR ranges. For the latter, important scattering directionality effects can be obtained. Also, systems constituted by dimers of HRI dielec...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-11401-y

    authors: Barreda ÁI,Gutiérrez Y,Sanz JM,González F,Moreno F

    更新日期:2017-09-11 00:00:00

  • Giant moving vortex mass in thick magnetic nanodots.

    abstract::Magnetic vortex is one of the simplest topologically non-trivial textures in condensed matter physics. It is the ground state of submicron magnetic elements (dots) of different shapes: cylindrical, square etc. So far, the vast majority of the vortex dynamics studies were focused on thin dots with thickness 5-50 nm and...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep13881

    authors: Guslienko KY,Kakazei GN,Ding J,Liu XM,Adeyeye AO

    更新日期:2015-09-10 00:00:00

  • Comorbid diseases as risk factors for incident posttraumatic stress disorder (PTSD) in a large community cohort (KCIS no.PSY4).

    abstract::Nature disasters and terrorist attacks have occurred globally in recent years. Posttraumatic stress disorder (PTSD) has gained increasing attention, but its incidence and comorbidities in the general population are different from those inside the disaster areas. The present study estimated incident PTSD and comorbid d...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep41276

    authors: Chang JC,Yen AM,Chen HH,Chen SL,Chiu SY,Fann JC,Lee CS

    更新日期:2017-01-27 00:00:00

  • Quantitative proteomics of Xenopus laevis embryos: expression kinetics of nearly 4000 proteins during early development.

    abstract::While there is a rich literature on transcription dynamics during the development of many organisms, protein data is limited. We used iTRAQ isotopic labeling and mass spectrometry to generate the largest developmental proteomic dataset for any animal. Expression dynamics of nearly 4,000 proteins of Xenopus laevis was ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep04365

    authors: Sun L,Bertke MM,Champion MM,Zhu G,Huber PW,Dovichi NJ

    更新日期:2014-03-14 00:00:00

  • Reduction in Urinary Chemokine (C-C Motif) Ligand 2 (CCL2) After Surgery-Induced Weight Loss.

    abstract::Kidney dysfunction, a deleterious effect of obesity, is now recognized as a relevant health risk. Chemokine (C-C Motif) Ligand 2 (CCL2) is one of the critical chemokines that play a vital role in the development of obesity-related metabolic disease. We aim to measure the changes in urinary CCL2 in our patients before ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-57763-8

    authors: Said SB,Loo GH,Kosai NR,Rajan R,Mohd R,Wahab AA,Shah SA

    更新日期:2020-01-21 00:00:00

  • Genomic analysis of primary and recurrent gliomas reveals clinical outcome related molecular features.

    abstract::Tremendous efforts have been made to explore biomarkers for classification and grading on gliomas. The goal of this study was to identify more molecular features that are associated with clinical outcomes by comparing the genomic profiles of primary and recurrent gliomas and determine potential recurrence leading fact...

    journal_title:Scientific reports

    pub_type: 临床试验,杂志文章

    doi:10.1038/s41598-019-52515-9

    authors: Zhang L,Liu Z,Li J,Huang T,Wang Y,Chang L,Zheng W,Ma Y,Chen F,Gong X,Yuan Q,Teaw S,Fang X,Song T,Huo L,Li X,Xia X,Liu Z,Wu J

    更新日期:2019-11-05 00:00:00

  • Artificial modulation of cell width significantly affects the division time of Escherichia coli.

    abstract::Bacterial cells have characteristic spatial and temporal scales. For instance, Escherichia coli, the typical rod-shaped bacteria, always maintains a relatively constant cell width and cell division time. However, whether the external physical perturbation of cell width has an impact on cell division time remains large...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-74778-3

    authors: Liang B,Quan B,Li J,Loton C,Bredeche MF,Lindner AB,Xu L

    更新日期:2020-10-20 00:00:00

  • Intravital imaging of glioma border morphology reveals distinctive cellular dynamics and contribution to tumor cell invasion.

    abstract::The pathogenesis of glioblastoma (GBM) is characterized by highly invasive behavior allowing dissemination and progression. A conclusive image of the invasive process is not available. The aim of this work was to study invasion dynamics in GBM using an innovative in vivo imaging approach. Primary brain tumor initiatin...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-38625-4

    authors: Alieva M,Leidgens V,Riemenschneider MJ,Klein CA,Hau P,van Rheenen J

    更新日期:2019-02-14 00:00:00

  • Proteomic Changes Associated with Successive Reproductive Periods in Male Polychaetous Neanthes arenaceodentata.

    abstract::The polychaetous annelid Neanthes acuminata complex has a widespread distribution, with the California population referred to as N. arenaceodentata. The reproductive pattern in this complex is unique, in that the female reproduces once and then dies, whereas the male can reproduce up to nine times. The male incubates ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep13561

    authors: Chandramouli KH,Reish D,Zhang H,Qian PY,Ravasi T

    更新日期:2015-09-04 00:00:00

  • Facile construction of a highly sensitive DNA biosensor by in-situ assembly of electro-active tags on hairpin-structured probe fragment.

    abstract::An ultrasensitive DNA biosensor has been developed through in-situ labeling of electroactive melamine-Cu(2+) complex (Mel-Cu(2+)) on the end of hairpin-like probe using gold nanoparticles (AuNPs) as the signal amplification platform. The 3'-thiolated hairpin-like probe was first immobilized to the gold electrode surfa...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep22441

    authors: Wang Q,Gao F,Ni J,Liao X,Zhang X,Lin Z

    更新日期:2016-03-02 00:00:00

  • DaReUS-Loop: accurate loop modeling using fragments from remote or unrelated proteins.

    abstract::Despite efforts during the past decades, loop modeling remains a difficult part of protein structure modeling. Several approaches have been developed in the framework of crystal structures. However, for homology models, the modeling of loops is still far from being solved. We propose DaReUS-Loop, a data-based approach...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-32079-w

    authors: Karami Y,Guyon F,De Vries S,Tufféry P

    更新日期:2018-09-12 00:00:00

  • Preparatory activity for purposeful arm movements in the dorsomedial parietal area V6A: Beyond the online guidance of movement.

    abstract::Over the years, electrophysiological recordings in macaque monkeys performing visuomotor tasks brought about accumulating evidence for the expression of neuronal properties (e.g., selectivity in the visuospatial and somatosensory domains, encoding of visual affordances and motor cues) in the posterior parietal area V6...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-25117-0

    authors: Santandrea E,Breveglieri R,Bosco A,Galletti C,Fattori P

    更新日期:2018-05-02 00:00:00

  • Leaf selection by two Bornean colobine monkeys in relation to plant chemistry and abundance.

    abstract::Focusing on the chemical basis of dietary selection while investigating the nutritional ecology of animals helps understand their feeding biology. It is also important to consider food abundance/biomass while studying the mechanism of animal food selection. We studied leaf selection in two Bornean folivorous primates ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep01873

    authors: Matsuda I,Tuuga A,Bernard H,Sugau J,Hanya G

    更新日期:2013-01-01 00:00:00

  • GSTP1 and GSTO1 single nucleotide polymorphisms and the response of bladder cancer patients to intravesical chemotherapy.

    abstract::SNPs may restrict cell detoxification activity and be a potential risk factor for cancer chemosensitivity. We evaluated the predictive value of these polymorphisms on the sensitivity of bladder cancer patients to epirubicin and mitomycin chemotherapy instillation as well as their toxicities. SNPs were analyzed by TaqM...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep14000

    authors: Deng X,Yang X,Cheng Y,Liu X,Li X,Zhao R,Qin C,Lu Q,Yin C

    更新日期:2015-09-10 00:00:00

  • Myosuppressin is involved in the regulation of pupal diapause in the cabbage army moth Mamestra brassicae.

    abstract::Diapause, a programmed developmental arrest, is common in insects, enabling them to survive adverse seasons. It is well established that pupal diapause is regulated by ecdysteroids secreted by the prothoracic glands (PGs), with cessation of ecdysteroid secretion after pupal ecdysis leading to pupal diapause. A major f...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep41651

    authors: Yamada N,Kataoka H,Mizoguchi A

    更新日期:2017-01-31 00:00:00

  • Spatial Distribution of the Cannabinoid Type 1 and Capsaicin Receptors May Contribute to the Complexity of Their Crosstalk.

    abstract::The cannabinoid type 1 (CB1) receptor and the capsaicin receptor (TRPV1) exhibit co-expression and complex, but largely unknown, functional interactions in a sub-population of primary sensory neurons (PSN). We report that PSN co-expressing CB1 receptor and TRPV1 form two distinct sub-populations based on their pharmac...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep33307

    authors: Chen J,Varga A,Selvarajah S,Jenes A,Dienes B,Sousa-Valente J,Kulik A,Veress G,Brain SD,Baker D,Urban L,Mackie K,Nagy I

    更新日期:2016-09-22 00:00:00

  • Identification of key metabolic changes in renal interstitial fibrosis rats using metabonomics and pharmacology.

    abstract::Renal fibrosis is one of the important pathways involved in end-stage renal failure. Investigating the metabolic changes in the progression of disease may enhance the understanding of its pathogenesis and therapeutic information. In this study, (1)H-nuclear magnetic resonance (NMR)-based metabonomics was firstly used ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep27194

    authors: Zhao L,Dong M,Liao S,Du Y,Zhou Q,Zheng H,Chen M,Ji J,Gao H

    更新日期:2016-06-03 00:00:00

  • Treating Colon Cancer Cells with FK228 Reveals a Link between Histone Lysine Acetylation and Extensive Changes in the Cellular Proteome.

    abstract::The therapeutic value of FK228 as a cancer treatment option is well known, and various types of cancer have been shown to respond to this drug. However, the complete mechanism of FK228 and the affect it has on histone lysine acetylation and the colon cancer cell proteome are largely unknown. In the present study, we u...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep18443

    authors: Wang TY,Jia YL,Zhang X,Sun QL,Li YC,Zhang JH,Zhao CP,Wang XY,Wang L

    更新日期:2015-12-17 00:00:00

  • A Comparative Assessment of Human and Chimpanzee iPSC-derived Cardiomyocytes with Primary Heart Tissues.

    abstract::Comparative genomic studies in primates have the potential to reveal the genetic and mechanistic basis for human specific traits. These studies may also help us better understand inter-species phenotypic differences that are clinically relevant. Unfortunately, the obvious limitation on sample collection and experiment...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-33478-9

    authors: Pavlovic BJ,Blake LE,Roux J,Chavarria C,Gilad Y

    更新日期:2018-10-17 00:00:00

  • Transcriptomic determinants of the response of ST-111 Pseudomonas aeruginosa AG1 to ciprofloxacin identified by a top-down systems biology approach.

    abstract::Pseudomonas aeruginosa is an opportunistic pathogen that thrives in diverse environments and causes a variety of human infections. Pseudomonas aeruginosa AG1 (PaeAG1) is a high-risk sequence type 111 (ST-111) strain isolated from a Costa Rican hospital in 2010. PaeAG1 has both blaVIM-2 and blaIMP-18 genes encoding for...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-70581-2

    authors: Molina-Mora JA,Chinchilla-Montero D,Chavarría-Azofeifa M,Ulloa-Morales AJ,Campos-Sánchez R,Mora-Rodríguez R,Shi L,García F

    更新日期:2020-08-13 00:00:00

  • A comprehensive examination of the local- and long-range structure of Sb6O13 pyrochlore oxide.

    abstract::The crystal structure of the Sb6O13 oxide, exhibiting a defect pyrochlore crystal structure with atomic vacancies, has been studied using a complete set of state-of-the-art techniques. The degree of antimony disproportionation in Sb3+ and Sb5+ valence states has been directly determined around 36% and 64%, respectivel...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-73860-0

    authors: Mayer SF,Rodrigues JE,Marini C,Fernández-Díaz MT,Falcón H,Asensio MC,Alonso JA

    更新日期:2020-10-12 00:00:00

  • Impact of a vegan diet on the human salivary microbiota.

    abstract::Little is known about the effect of long-term diet patterns on the composition and functional potential of the human salivary microbiota. In the present study, we sought to contribute to the ongoing elucidation of dietary effects on the oral microbial community by examining the diversity, composition and functional po...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-24207-3

    authors: Hansen TH,Kern T,Bak EG,Kashani A,Allin KH,Nielsen T,Hansen T,Pedersen O

    更新日期:2018-04-11 00:00:00

  • Time course of bilateral microglial activation in a mouse model of laser-induced glaucoma.

    abstract::Microglial activation is associated with glaucoma. In the model of unilateral laser-induced ocular hypertension (OHT), the time point at which the inflammatory process peaks remains unknown. Different time points (1, 3, 5, 8, and 15 d) were compared to analyze signs of microglial activation both in OHT and contralater...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-61848-9

    authors: Ramírez AI,de Hoz R,Fernández-Albarral JA,Salobrar-Garcia E,Rojas B,Valiente-Soriano FJ,Avilés-Trigueros M,Villegas-Pérez MP,Vidal-Sanz M,Triviño A,Ramírez JM,Salazar JJ

    更新日期:2020-03-17 00:00:00

  • Deletion of biosynthetic genes, specific SNP patterns and differences in transcript accumulation cause variation in hydroxynitrile glucoside content in barley cultivars.

    abstract::Barley (Hordeum vulgare L.) produces five leucine-derived hydroxynitrile glucosides, potentially involved in alleviating pathogen and environmental stresses. These compounds include the cyanogenic glucoside epiheterodendrin. The biosynthetic genes are clustered. Total hydroxynitrile glucoside contents were previously ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-41884-w

    authors: Ehlert M,Jagd LM,Braumann I,Dockter C,Crocoll C,Motawia MS,Møller BL,Lyngkjær MF

    更新日期:2019-04-05 00:00:00

  • Evolutionary dynamics of the chloroplast genome sequences of six Colobanthus species.

    abstract::The complete plastome sequences of six species were sequenced to better understand the evolutionary relationships and mutation patterns in the chloroplast genome of the genus Colobanthus. The length of the chloroplast genome sequences of C. acicularis, C. affinis, C. lycopodioides, C. nivicola, C. pulvinatus and C. su...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-68563-5

    authors: Androsiuk P,Jastrzębski JP,Paukszto Ł,Makowczenko K,Okorski A,Pszczółkowska A,Chwedorzewska KJ,Górecki R,Giełwanowska I

    更新日期:2020-07-13 00:00:00

  • mRNA Levels of Imprinted Genes in Bovine In Vivo Oocytes, Embryos and Cross Species Comparisons with Humans, Mice and Pigs.

    abstract::Twenty-six imprinted genes were quantified in bovine in vivo produced oocytes and embryos using RNA-seq. Eighteen were detectable and their transcriptional patterns were: largely decreased (MEST and PLAGL1); first decreased and then increased (CDKN1C and IGF2R); peaked at a specific stage (PHLDA2, SGCE, PEG10, PEG3, G...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep17898

    authors: Jiang Z,Dong H,Zheng X,Marjani SL,Donovan DM,Chen J,Tian XC

    更新日期:2015-12-07 00:00:00

  • Mechanochemical synthesis of Si/Cu3Si-based composite as negative electrode materials for lithium ion battery.

    abstract::Mechanochemical synthesis of Si/Cu3Si-based composite as negative electrode materials for lithium ion battery is investigated. Results indicate that CuO is decomposed and alloyed with Si forming amorphous Cu-Si solid solution due to high energy impacting during high energy mechanical milling (HEMM). Upon carbonization...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-30703-3

    authors: Hou SC,Chen TY,Wu YH,Chen HY,Lin XD,Chen YQ,Huang JL,Chang CC

    更新日期:2018-08-23 00:00:00

  • Metagenomic evidence of stronger effect of stylo (legume) than bahiagrass (grass) on taxonomic and functional profiles of the soil microbial community.

    abstract::Plants are key determinants of soil microbial community (SMC). Legumes and grasses are distinct groups in various ecosystems; however, how they differentially shape SMC structure and functioning has yet to be explored. Here, we investigate SMC in soils grown with stylo (legume) or bahiagrass (grass). Soil metagenomic ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-10613-6

    authors: Zhou Y,Zhu H,Fu S,Yao Q

    更新日期:2017-08-31 00:00:00

  • Ocular Blood Flow in Rabbits under Deep Anesthesia: A Real-Time Measurement Technique and Its Application in Characterizing Retinal Ischemia.

    abstract::In this study, we reported a new technique based on laser speckle flowgraphy to record the ocular blood flow in rabbits under deep anesthesia, and proposed parameters to characterize retinal ischemia. We applied the proposed technique to study the correlation of blood flow between the eyes of normal non-anesthetized a...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-24141-4

    authors: Bhatti MS,Tang TB,Chen HC

    更新日期:2018-04-09 00:00:00