Mutation in the <i>Trap</i>α/<i>Ssr1</i> Gene, Encoding Translocon-Associated Protein α, Results in Outflow Tract Morphogenetic Defects

Mesbah, Karim; Camus, Anne; Babinet, Charles; Barra, Jacqueline

doi:10.1128/mcb.00913-06

Cited by 23 publications

(20 citation statements)

References 43 publications

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“…SSR1, regulated by miR-4521, was associated with the pathway of protein processing. SSR1/Trapα, which may have a general role in protein translocation [39], was found involved in mammalian heart development [40]. Moreover, miR-4521 was found involved in cancer pathogenesis [41,42].…”

Section: Discussionmentioning

confidence: 99%

Whole-Transcriptome Analysis of CD133+CD144+ Cancer Stem Cells Derived from Human Laryngeal Squamous Cell Carcinoma Cells

Zhang²,

Niu³

et al. 2018

Cell Physiol Biochem

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Background/Aims: CD133+CD44+ cancer stem cells previously isolated from laryngeal squamous cell carcinoma (LSCC) cell lines showed strong malignancy and tumorigenicity. However, the molecular mechanism underlying the enhanced malignancy remained unclear. Methods: Cell proliferation assay, spheroid-formation experiment, RNA sequencing (RNA-seq), miRNA-seq, bioinformatic analysis, quantitative real-time PCR, migration assay, invasion assay, and luciferase reporter assay were used to identify differentially expressed mRNAs, lncRNAs, circRNAs and miRNAs, construct transcription regulatory network, and investigate functional roles and mechanism of circRNA in CD133+CD44+ laryngeal cancer stem cells. Results: Differentially expressed genes in TDP cells were mainly enriched in the biological processes of cell differentiation, regulation of autophagy, negative regulation of cell death, regulation of cell growth, response to hypoxia, telomere maintenance, cellular response to gamma radiation, and regulation of apoptotic signaling, which are closely related to the malignant features of tumor cells. We constructed the regulatory network of differentially expressed circRNAs, miRNAs and mRNAs. qPCR findings for the expression of key genes in the network were consistent with the sequencing data. Moreover, our data revealed that circRNA hg19_circ_0005033 promotes proliferation, migration, invasion, and chemotherapy resistance of laryngeal cancer stem cells. Conclusions: This study provides potential biomarkers and targets for LSCC diagnosis and therapy, and provide important evidences for the heterogeneity of LSCC cells at the transcription level.

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Section: Discussionmentioning

confidence: 99%

Whole-Transcriptome Analysis of CD133+CD144+ Cancer Stem Cells Derived from Human Laryngeal Squamous Cell Carcinoma Cells

Zhang²,

Niu³

et al. 2018

Cell Physiol Biochem

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“…Insertional mutation of Trap-a, which encodes the a subunit, resulted in serious growth retardation with severe cardiac defects in mouse embryos from E14.5 and the mutant pups died at birth (Mesbah et al, 2006). By contrast, Trap-g LacZ/LacZ embryos did not show such severe growth retardation and cardiac defects and they were still alive at birth (Figs.…”

Section: Discussionmentioning

confidence: 98%

“…S1). Absence of Trap-a also influences substrate-specific protein secretion so that secretion of gamma interferon and atrial natriuretic peptide are impaired, but preprolactin is not, in Trap-a À/À embryonic fibroblasts (Mesbah et al, 2006). This also suggests that individual TRAP subunits might have a distinct function in protein translocation and/ or modification in a substrate-specific manner.…”

Section: Discussionmentioning

confidence: 99%

Translocon‐associated protein subunit Trap‐γ/Ssr3 is required for vascular network formation in the mouse placenta

Yamaguchi

Tanaka

Oshima

et al. 2011

Developmental Dynamics

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The translocon-associated protein (TRAP, also termed the signal sequence receptor) complex is required for the efficient translocation of secretory and membrane proteins in the endoplasmic reticulum, and is also involved in the endoplasmic reticulum stress-mediated unfolded protein response pathway. To investigate the roles of Trap-g, a TRAP complex subunit, we generated Trap-g knockout mice and found that mutant pups died soon after birth because of retarded embryonic organ growth, especially in the lung. The mutant placentae showed severe vascular network malformation in the labyrinth and significant reductions in blood space areas, which had an adverse effect on intrauterine embryonic growth. Placental malformation was already found by the mid-gestation-stage mutant placenta, with poor vascular endothelial cell proliferation in the chorionic plate region and increased apoptotic cell death in the labyrinth. Thus, Trap-g appears to be required for vascular network formation in murine placental development. Developmental Dynamics 240:394-403,

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“…Previous studies have suggested that SSr1 plays a crucial role in mammalian heart development and may be involved in the translocation of factors necessary for the maturation of endocardial cushions. For example, homozygous SSR1 mutant pups die at birth, possibly as a result of severe cardiac defects (18). NDRG2 is one of the four members of the new ndrG (n-myc downstream-regulated gene) family (19)(20)(21).…”

Section: Discussionmentioning

confidence: 99%

Screening for differential methylation status in fetal myocardial tissue samples with ventricular septal defects by promoter methylation microarrays

Zhu

Chen

et al. 2010

Mol Med Rep

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Abstract.To identify and provide a global assessment of dna methylation in fetal ventricular septal defect (VSd), genomic dna extracted from fetal myocardial tissue samples with VSd (n=21) and from normal fetal myocardial tissue samples (n=15) was analyzed for gene methylation using array-based technology. Furthermore, the Kiaa0310, raB43, SiVa1 and ndrG2 genes were randomly selected for validation analysis using methylation-specific PCR. Our results revealed that 70 and 85 genes were regulated by hypermethylation and hypomethylation, respectively, in VSd. different clusters of genes were associated with functions including embryo development, signal transduction, cell apoptosis and cell proliferation. In conclusion, this study identified a set of candidate genes whose expression is regulated by dna methylation in fetal VSd. Introductioncongenital heart disease (cHd) is the most common type of developmental defect, occurring in almost 1% of all neonates (1). Ventricular septal defect (VSd) is the most commonly recognized cHd (2). VSd may exist alone or as an integral part of complex cHd (3). VSd is a multifactorial complex disease, in which genetic and environmental factors play important roles. despite the availability of several surgical techniques to treat VSd, the exact molecular mechanism of this type of cHd remains unclear.dna methylation has been widely recognized as a potent mechanism for silencing gene expression and maintaining genome stability (4). dna methylation is the predominant epigenetic alteration occurring in mammalian genomes, and plays a critical functional role in development, differentiation and disease (5). Previous studies have revealed that during embryonic development, the mammalian genome undergoes profound reprogramming of dna methylation patterns in the germ and early pre-implantation embryos (6). Furthermore, the different prototypes of genes in each cell, tissue and organ are thought to be regulated by dna methylation even during early development (7).The recent advent of array-based techniques offers the opportunity for more comprehensive DNA methylation profiling (8). Comparing the DNA methylation profiles of myocardial tissue samples from VSd and normal fetuses, we provide novel information for identifying gene methylation that may be implicated in the pathological consequences of VSd. Materials and methodsTissue samples. Fetal myocardial tissue samples were obtained from nanjing Maternal and child Health Hospital. Myocardial tissue samples from 21 VSd and 15 normal fetuses at 26 weeks of gestation were obtained during surgery for pregnancy termination owing to trauma of the pregnant women. all samples were collected with the approval of the appropriate institute ethics committee, and written consent was provided by each pregnant woman and her family. The speciments were immediately snap frozen in liquid nitrogen and then stored at -80˚C until analysis.DNA methylation profiling by methylated DNA immunoprecipitation. The methylation profiling by methylated DNA immunoprecipitatio...

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Mutation in the Trapα/Ssr1 Gene, Encoding Translocon-Associated Protein α, Results in Outflow Tract Morphogenetic Defects

Cited by 23 publications

References 43 publications

Whole-Transcriptome Analysis of CD133+CD144+ Cancer Stem Cells Derived from Human Laryngeal Squamous Cell Carcinoma Cells

Whole-Transcriptome Analysis of CD133+CD144+ Cancer Stem Cells Derived from Human Laryngeal Squamous Cell Carcinoma Cells

Translocon‐associated protein subunit Trap‐γ/Ssr3 is required for vascular network formation in the mouse placenta

Screening for differential methylation status in fetal myocardial tissue samples with ventricular septal defects by promoter methylation microarrays

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