当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

Abstract：

:Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective neural crest cell (NCC) development explains RCPS craniofacial abnormalities. RCPS iNCCs have decreased migratory capacity, a distinct phenotype relative to other craniofacial disorders. Eif4a3 haploinsufficient embryos presented altered mandibular process fusion and micrognathia, thus recapitulating the most penetrant phenotypes of the syndrome. These defects were evident in either ubiquitous or NCC-specific Eif4a3 haploinsufficient animals, demonstrating an autonomous requirement of Eif4a3 in NCCs. Notably, RCPS NCC-derived mesenchymal stem-like cells (nMSCs) showed premature bone differentiation, a phenotype paralleled by premature clavicle ossification in Eif4a3 haploinsufficient embryos. Likewise, nMSCs presented compromised in vitro chondrogenesis, and Meckel's cartilage was underdeveloped in vivo. These findings indicate novel and essential requirements of EIF4A3 for NCC migration and osteochondrogenic differentiation during craniofacial development. Altogether, complementary use of iPSCs and mouse models pinpoint unique cellular mechanisms by which EIF4A3 mutation causes RCPS, and provide a paradigm to study craniofacial disorders.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Miller EE,Kobayashi GS,Musso CM,Allen M,Ishiy FAA,de Caires LC Jr,Goulart E,Griesi-Oliveira K,Zechi-Ceide RM,Richieri-Costa A,Bertola DR,Passos-Bueno MR,Silver DL

doi

10.1093/hmg/ddx078

subject

Has Abstract

pub_date

2017-06-15 00:00:00

pages

2177-2191

issue

12

eissn

0964-6906

issn

1460-2083

pii

3059994

journal_volume

26

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Ataxin-2 repeat-length variation and neurodegeneration.

    abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr227

    authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

    更新日期：2011-08-15 00:00:00

  • Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies.

    abstract：:Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are among the most common motor neuron diseases to afflict the human population. A deficiency of the survival of motor neuron (SMN) protein causes SMA and is also reported to be an exacerbating factor in the development of ALS. However, pathways lin...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds174

    authors： Kariya S,Re DB,Jacquier A,Nelson K,Przedborski S,Monani UR

    更新日期：2012-08-01 00:00:00

  • Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation.

    abstract：:Huntingtin-associated protein 1 (Hap1) is the first huntingtin interacting protein identified in a yeast two-hybrid screen. Although Hap1 expression has been demonstrated in neuronal and non-neuronal tissues, its molecular role is poorly understood. Recently, it has been shown that targeted disruption of Hap1 in mice ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddh328

    authors： Dragatsis I,Zeitlin S,Dietrich P

    更新日期：2004-12-15 00:00:00

  • Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

    abstract：:Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation po...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.8.1517

    authors： de Villiers JN,Hillermann R,Loubser L,Kotze MJ

    更新日期：1999-08-01 00:00:00

  • Reactivation of the silenced and imprinted alleles of ARHI is associated with increased histone H3 acetylation and decreased histone H3 lysine 9 methylation.

    abstract：:ARHI has been identified as a maternally imprinted tumor suppressor gene that maps to chromosome 1p31 and whose expression is markedly down-regulated in breast cancer. To explore possible mechanisms that could silence ARHI expression, we have tested the importance of DNA methylation, histone acetylation and histone me...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg204

    authors： Fujii S,Luo RZ,Yuan J,Kadota M,Oshimura M,Dent SR,Kondo Y,Issa JP,Bast RC Jr,Yu Y

    更新日期：2003-08-01 00:00:00

  • Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

    abstract：:Subcortical band heterotopia (SBH) are bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface, which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malformations. Mutations in DCX (also known as XLIS ) hav...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.9.1757

    authors： Pilz DT,Kuc J,Matsumoto N,Bodurtha J,Bernadi B,Tassinari CA,Dobyns WB,Ledbetter DH

    更新日期：1999-09-01 00:00:00

  • Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model.

    abstract：:Arrhythmogenic cardiomyopathy (ACM) is a disorder characterized by a progressive ventricular myocardial replacement by fat and fibrosis, which lead to ventricular arrhythmias and sudden cardiac death. Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for >40% of all known mutations, generally causing a tr...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw213

    authors： Moncayo-Arlandi J,Guasch E,Sanz-de la Garza M,Casado M,Garcia NA,Mont L,Sitges M,Knöll R,Buyandelger B,Campuzano O,Diez-Juan A,Brugada R

    更新日期：2016-09-01 00:00:00

  • Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis.

    abstract：:Intracellular accumulations of mutant, misfolded proteins are major pathological hallmarks of amyotrophic lateral sclerosis (ALS) and related disorders. Recently, mutations in Sigma receptor 1 (SigR1) have been found to cause a form of ALS and frontotemporal lobar degeneration (FTLD). Our goal was to pinpoint alterati...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt008

    authors： Prause J,Goswami A,Katona I,Roos A,Schnizler M,Bushuven E,Dreier A,Buchkremer S,Johann S,Beyer C,Deschauer M,Troost D,Weis J

    更新日期：2013-04-15 00:00:00

  • Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice.

    abstract：:Development of neural circuitry depends on the integration of signaling pathways to coordinate specification, proliferation and differentiation of cell types in the right number, in the right place, at the right time. Zinc finger protein 423 (Zfp423), a 30-zinc finger transcription factor, forms alternate complexes wi...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr300

    authors： Alcaraz WA,Chen E,Valdes P,Kim E,Lo YH,Vo J,Hamilton BA

    更新日期：2011-10-01 00:00:00

  • Inhibition of death-associated protein kinase 1 attenuates the phosphorylation and amyloidogenic processing of amyloid precursor protein.

    abstract：:Extracellular deposition of amyloid-beta (Aβ) peptide, a metabolite of sequential cleavage of amyloid precursor protein (APP), is a critical step in the pathogenesis of Alzheimer's disease (AD). While death-associated protein kinase 1 (DAPK1) is highly expressed in AD brains and its genetic variants are linked to AD r...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw114

    authors： Kim BM,You MH,Chen CH,Suh J,Tanzi RE,Ho Lee T

    更新日期：2016-06-15 00:00:00

  • Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

    abstract：:Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transporting cholesterol and other lipids out of lysosomes, but little is known about the mechanisms that control its cellular abundance and localization. Here we sh...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw204

    authors： Ebrahimi-Fakhari D,Wahlster L,Bartz F,Werenbeck-Ueding J,Praggastis M,Zhang J,Joggerst-Thomalla B,Theiss S,Grimm D,Ory DS,Runz H

    更新日期：2016-08-15 00:00:00

  • Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice.

    abstract：:Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu522

    authors： Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

    更新日期：2015-02-15 00:00:00

  • Genetic dissection of myocilin glaucoma.

    abstract：:Primary open-angle glaucoma (POAG) is a complex disease with unknown causes. However, in the past decade, POAG has been linked to six chromosomal regions, of which the gene MYOC encoding myocilin and the gene OPTN encoding optineurin have been identified to harbor causal mutations (disease-causing variants, DCV). POAG...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddh074

    authors： Gong G,Kosoko-Lasaki O,Haynatzki GR,Wilson MR

    更新日期：2004-04-01 00:00:00

  • Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC.

    abstract：:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manne...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：

    authors： Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KI

    更新日期：2003-03-15 00:00:00

  • FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease.

    abstract：:Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt615

    authors： Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

    更新日期：2014-05-01 00:00:00

  • The Menkes copper transporter is required for the activation of tyrosinase.

    abstract：:Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. The MNK gene encodes a copper-transporting P-type ATPase, MNK, which is localized predominantly in the trans-Golgi network (TGN). The MNK protein relocates to the plasma membrane in cells exposed to elevated...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.19.2845

    authors： Petris MJ,Strausak D,Mercer JF

    更新日期：2000-11-22 00:00:00

  • Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

    abstract：:Lysosomal neuraminidase is the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates and is deficient in two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis. Here we report the identification of eight novel mutations in the neuraminidase gene of 11 sialidosis patients with ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.18.2715

    authors： Bonten EJ,Arts WF,Beck M,Covanis A,Donati MA,Parini R,Zammarchi E,d'Azzo A

    更新日期：2000-11-01 00:00:00

  • Genotype analysis of adult cystic fibrosis patients.

    abstract：:To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patien...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/2.10.1557

    authors： Férec C,Verlingue C,Guillermit H,Quéré I,Raguénès O,Feigelson J,Audrézet MP,Moullier P,Mercier B

    更新日期：1993-10-01 00:00:00

  • miR-132/212 deficiency impairs tau metabolism and promotes pathological aggregation in vivo.

    abstract：:Alzheimer's disease (AD) and related tauopathies comprise a large group of neurodegenerative diseases associated with the pathological aggregation of tau protein. While much effort has focused on understanding the function of tau, little is known about the endogenous mechanisms regulating tau metabolism in vivo and ho...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv377

    authors： Smith PY,Hernandez-Rapp J,Jolivette F,Lecours C,Bisht K,Goupil C,Dorval V,Parsi S,Morin F,Planel E,Bennett DA,Fernandez-Gomez FJ,Sergeant N,Buée L,Tremblay MÈ,Calon F,Hébert SS

    更新日期：2015-12-01 00:00:00

  • Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.

    abstract：:The vast majority of Friedreich ataxia patients are homozygous for large GAA triplet repeat expansions in intron 1 of the X25 gene. Instability of the expanded GAA repeat was examined in 23 chromosomes bearing 97-1250 triplets in lymphoblastoid cell lines passaged 20-39 times. Southern analyses revealed 18 events of s...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.13.2425

    authors： Bidichandani SI,Purandare SM,Taylor EE,Gumin G,Machkhas H,Harati Y,Gibbs RA,Ashizawa T,Patel PI

    更新日期：1999-12-01 00:00:00

  • Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

    abstract：:Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it is only responsible for approximately half of affected individuals, indicating that other lo...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx430

    authors： Yin XM,Lin JH,Cao L,Zhang TM,Zeng S,Zhang KL,Tian WT,Hu ZM,Li N,Wang JL,Guo JF,Wang RX,Xia K,Zhang ZH,Yin F,Peng J,Liao WP,Yi YH,Liu JY,Yang ZX,Chen Z,Mao X,Yan XX,Jiang H,Shen L,Chen SD,Zhang LM,Tan

    更新日期：2018-02-15 00:00:00

  • Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain.

    abstract：:Schizophrenia may arise from subtle abnormalities in brain development due to alterations in the functions of candidate susceptibility genes such as Disrupted-in-schizophrenia 1 (DISC1) and Neuregulin 1 (NRG1). To provide novel insights into the functions of DISC1 in brain development, we mapped the expression of zebr...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn361

    authors： Wood JD,Bonath F,Kumar S,Ross CA,Cunliffe VT

    更新日期：2009-02-01 00:00:00

  • Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.

    abstract：:Dilated cardiomyopathy (DCM) due to mutations in RBM20, a gene encoding an RNA-binding protein, is associated with high familial penetrance, risk of progressive heart failure and sudden death. Although genetic investigations and physiological models have established the linkage of RBM20 with early-onset DCM, the under...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu091

    authors： Beraldi R,Li X,Martinez Fernandez A,Reyes S,Secreto F,Terzic A,Olson TM,Nelson TJ

    更新日期：2014-07-15 00:00:00

  • Detecting differentially expressed genes in multiple tag sampling experiments: comparative evaluation of statistical tests.

    abstract：:The comparison of several statistical methods currently used for detection of differentially expressed genes was attempted both by a simulation approach and by the analysis of data sets of human expressed sequence tags, obtained from UniGene. In the simulated mixed case, mimicking a situation close to reality, the gen...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.19.2133

    authors： Romualdi C,Bortoluzzi S,Danieli GA

    更新日期：2001-09-15 00:00:00

  • Systems-level analysis of human aging genes shed new light on mechanisms of aging.

    abstract：:Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw145

    authors： Zhang Q,Nogales-Cadenas R,Lin JR,Zhang W,Cai Y,Vijg J,Zhang ZD

    更新日期：2016-07-15 00:00:00

  • A mouse model of Angelman syndrome imprinting defects.

    abstract：:Angelman syndrome, Prader-Will syndrome and Dup15q syndrome map to a cluster of imprinted genes located at 15q11-q13. Imprinting at this domain is regulated by an imprinting control region consisting of two distinct elements, the Angelman syndrome imprinting center (AS-IC) and the Prader-Willi syndrome imprinting cent...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy345

    authors： Lewis MW,Vargas-Franco D,Morse DA,Resnick JL

    更新日期：2019-01-15 00:00:00

  • Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome.

    abstract：:DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge critical region. We now report that one of them, ZNF74 gene, is hemizygou...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/2.10.1583

    authors： Aubry M,Demczuk S,Desmaze C,Aikem M,Aurias A,Julien JP,Rouleau GA

    更新日期：1993-10-01 00:00:00

  • Collapsed methylation quantitative trait loci analysis for low frequency and rare variants.

    abstract：BACKGROUND:Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the statistical power to identify the effects from rare genetic variants. We have undertaken extensive analyses to identify regions of low frequency and rare...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw283

    authors： Richardson TG,Shihab HA,Hemani G,Zheng J,Hannon E,Mill J,Carnero-Montoro E,Bell JT,Lyttleton O,McArdle WL,Ring SM,Rodriguez S,Campbell C,Smith GD,Relton CL,Timpson NJ,Gaunt TR

    更新日期：2016-10-01 00:00:00

  • Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.

    abstract：:Reduced activity of beta4-galactosyltransferase 7 (beta4GalT-7), an enzyme involved in synthesizing the glycosaminoglycan linkage region of proteoglycans, is associated with the progeroid form of Ehlers-Danlos syndrome (EDS). In the invertebrates Drosophila melanogaster and Caenorhabditis elegans, mutations in beta4Ga...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddm372

    authors： Götte M,Spillmann D,Yip GW,Versteeg E,Echtermeyer FG,van Kuppevelt TH,Kiesel L

    更新日期：2008-04-01 00:00:00

  • Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia.

    abstract：:There is considerable uncertainty and debate concerning the application of linkage disequilibrium (LD) mapping in common multifactorial diseases, including the choice of population and the density of the marker map. Previously, it has been shown that, in the large cosmopolitan population of the UK, the established typ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.20.2967

    authors： Zavattari P,Lampis R,Mulargia A,Loddo M,Angius E,Todd JA,Cucca F

    更新日期：2000-12-12 00:00:00