scholarly journals Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Linjun Chen ◽  
Lin Wang ◽  
Lei Chen ◽  
Fangyuan Wang ◽  
Fei Ji ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mouse Models ◽  
Stria Vascularis ◽  
Specific Gene ◽  
Waardenburg Syndrome ◽  
Significant Difference ◽  
Tyrosine Metabolism ◽  
Differential Gene ◽  
Transcript Profiles ◽  
And Function

Background. Waardenburg syndrome is an uncommon genetic condition characterized by at least some degree of congenital hearing loss and pigmentation deficiencies. However, the genetic pathway affecting the development of stria vascularis is not fully illustrated. Methods. The transcript profile of stria vascularis of Waardenburg syndrome was studied using Mitf-M mutant pig and mice models. Therefore, GO analysis was performed to identify the differential gene expression caused by Mitf-M mutation. Results. There were 113 genes in tyrosine metabolism, melanin formation, and ion transportations showed significant changes in pig models and 191 genes in mice models. In addition, there were some spice’s specific gene changes in the stria vascularis in the mouse and porcine models. The expression of tight junction-associated genes, including Cadm1, Cldn11, Pcdh1, Pcdh19, and Cdh24 genes, were significantly higher in porcine models compared to mouse models. Vascular-related and ion channel-related genes in the stria vascularis were also shown significantly difference between the two species. The expression of Col2a1, Col3a1, Col11a1, and Col11a2 genes were higher, and the expression of Col8a2, Cd34, and Ncam genes were lower in the porcine models compared to mouse models. Conclusions. Our data suggests that there is a significant difference on the gene expression and function between these two models.

scholarly journals Transcript profiles of stria vascularis in models of Waardenburg syndrome

2019 ◽  
Author(s):  
Linjun Chen ◽  
Yi Wang ◽  
Lei Chen ◽  
Fangyuan wang ◽  
Fei Ji ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mouse Model ◽  
Mouse Models ◽  
Stria Vascularis ◽  
Specific Gene ◽  
Waardenburg Syndrome ◽  
Significant Difference ◽  
Tyrosine Metabolism ◽  
Transcript Profiles ◽  
And Function

Abstract Background: Waardenburg syndrome is a common syndromic hereditary deafness disease caused by stria vascularis dysfunction. However, the genetic pathway affecting stria vascularis development is still not clear. In this paper, the transcript profile of stria vascularis of Waardenburg syndrome was studied using Mitf-M mutant pigs and mice models. GO analysis was performed to identify the differential gene expression caused by Mitf-M mutation. Results: There were over than one hundred genes mainly found in tyrosine metabolism, melanin formation and ion transportations showed significant changes in both models. In addition, there were some spiced specific gene changes in the stria vascularis in the mouse and porcine models. The expression of tight junction-associated genes, including Cadm1, Cldn11, Pcdh1, Pcdh19 and Cdh24 genes , were significantly higher in porcine models compared to mouse models. Vascular-related and ion channel-related genes in the stria vascularis were also shown significantly difference between the two species. The expression of Col2a1, Col3a1, Col11a1 and Col11a2 genes were higher and the expression of Col8a2, Cd34 and Ncam genes were lower in the porcine model compared to mouse model. In both models, Trpm1, Kcnj13, and Slc45a2 genes were both affected by the Mitf-M mutation. In the pig models, the expression of Kcnn1, Clcn2 and Trpm4 genes were higher than the mouse model; whereas the expression of Trpm7, Kcnq1 and Kcnj8 genes were higher in the mouse models than the pig models. However, there was no significant difference in the morphology of the stria vascularis between these two models. Conclusions: Our data suggests that there is a significant difference on the gene expression and function between these two models.

scholarly journals Transcript profiles of stria vascularis in models of Waardenburg syndrome

2019 ◽  
Author(s):  
Linjun Chen ◽  
Yi Wang ◽  
Lei Chen ◽  
Fangyuan Wang ◽  
Fe Ji ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mouse Model ◽  
Mouse Models ◽  
Stria Vascularis ◽  
Specific Gene ◽  
Waardenburg Syndrome ◽  
Significant Difference ◽  
Tyrosine Metabolism ◽  
Transcript Profiles ◽  
And Function

Abstract Background: Waardenburg syndrome is a common syndromic hereditary deafness disease caused by stria vascularis dysfunction. However, the genetic pathway affecting stria vascularis development is still not clear. In this paper, the transcript profile of stria vascularis of Waardenburg syndrome was studied using Mitf-M mutant pigs and mice models. GO analysis was performed to identify the differential gene expression caused by Mitf-M mutation. Results: There were over than one hundred genes mainly found in tyrosine metabolism, melanin formation and ion transportations showed significant changes in both models. In addition, there were some spiced specific gene changes in the stria vascularis in the mouse and porcine models. The expression of tight junction-associated genes, including Cadm1, Cldn11, Pcdh1, Pcdh19 and Cdh24 genes, were significantly higher in porcine models compared to mouse models. Vascular-related and ion channel-related genes in the stria vascularis were also shown significantly difference between the two species. The expression of Col2a1, Col3a1, Col11a1 and Col11a2 genes were higher and the expression of Col8a2, Cd34 and Ncam genes were lower in the porcine model compared to mouse model. In both models, Trpm1, Kcnj13, and Slc45a2 genes were both affected by the Mitf-M mutation. In the pig models, the expression of Kcnn1, Clcn2 and Trpm4 genes were higher than the mouse model; whereas the expression of Trpm7, Kcnq1 and Kcnj8 genes were higher in the mouse models than the pig models. However, there was no significant difference in the morphology of the stria vascularis between these two models. Conclusions: Our data suggests that there is a significant difference on the gene expression and function between these two models.

scholarly journals mTORC1 activation in lung mesenchyme drives sex- and age-dependent pulmonary structure and function decline

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Kseniya Obraztsova ◽  
Maria C. Basil ◽  
Ryan Rue ◽  
Aravind Sivakumar ◽  
Susan M. Lin ◽  
...  
Keyword(s):  
Gene Expression ◽  
Wnt Signaling ◽  
Wnt Signaling Pathway ◽  
Mesenchymal Cell ◽  
Mouse Lung ◽  
Specific Gene ◽  
Alveolar Epithelial ◽  
Cystic Lung ◽  
Age Dependent ◽  
And Function

Abstract Lymphangioleiomyomatosis (LAM) is a rare fatal cystic lung disease due to bi-allelic inactivating mutations in tuberous sclerosis complex (TSC1/TSC2) genes coding for suppressors of the mechanistic target of rapamycin complex 1 (mTORC1). The origin of LAM cells is still unknown. Here, we profile a LAM lung compared to an age- and sex-matched healthy control lung as a hypothesis-generating approach to identify cell subtypes that are specific to LAM. Our single-cell RNA sequencing (scRNA-seq) analysis reveals novel mesenchymal and transitional alveolar epithelial states unique to LAM lung. This analysis identifies a mesenchymal cell hub coordinating the LAM disease phenotype. Mesenchymal-restricted deletion of Tsc2 in the mouse lung produces a mTORC1-driven pulmonary phenotype, with a progressive disruption of alveolar structure, a decline in pulmonary function, increase of rapamycin-sensitive expression of WNT ligands, and profound female-specific changes in mesenchymal and epithelial lung cell gene expression. Genetic inactivation of WNT signaling reverses age-dependent changes of mTORC1-driven lung phenotype, but WNT activation alone in lung mesenchyme is not sufficient for the development of mouse LAM-like phenotype. The alterations in gene expression are driven by distinctive crosstalk between mesenchymal and epithelial subsets of cells observed in mesenchymal Tsc2-deficient lungs. This study identifies sex- and age-specific gene changes in the mTORC1-activated lung mesenchyme and establishes the importance of the WNT signaling pathway in the mTORC1-driven lung phenotype.

scholarly journals Differential gene profiling in acute lung injury identifies injury-specific gene expression*

2008 ◽  
Vol 36 (3) ◽  
pp. 855-865 ◽  
Author(s):  
Claudia C. dos Santos ◽  
Daisuke Okutani ◽  
Pingzhao Hu ◽  
Bing Han ◽  
Ettore Crimi ◽  
...  
Keyword(s):  
Gene Expression ◽  
Acute Lung Injury ◽  
Lung Injury ◽  
Gene Profiling ◽  
Specific Gene ◽  
Specific Gene Expression ◽  
Differential Gene

scholarly journals Impact of Transposable Elements on Methylation and Gene Expression across Natural Accessions of Brachypodium distachyon

2020 ◽  
Vol 12 (11) ◽  
pp. 1994-2001 ◽  
Author(s):  
Michele Wyler ◽  
Christoph Stritt ◽  
Jean-Claude Walser ◽  
Célia Baroux ◽  
Anne C Roulin
Keyword(s):  
Gene Expression ◽  
Dna Methylation ◽  
Transposable Elements ◽  
Brachypodium Distachyon ◽  
Large Fraction ◽  
Expression Patterns ◽  
Specific Gene ◽  
Differential Gene ◽  
The Relationship ◽  
Silent State

Abstract Transposable elements (TEs) constitute a large fraction of plant genomes and are mostly present in a transcriptionally silent state through repressive epigenetic modifications, such as DNA methylation. TE silencing is believed to influence the regulation of adjacent genes, possibly as DNA methylation spreads away from the TE. Whether this is a general principle or a context-dependent phenomenon is still under debate, pressing for studying the relationship between TEs, DNA methylation, and nearby gene expression in additional plant species. Here, we used the grass Brachypodium distachyon as a model and produced DNA methylation and transcriptome profiles for 11 natural accessions. In contrast to what is observed in Arabidopsis thaliana, we found that TEs have a limited impact on methylation spreading and that only few TE families are associated with a low expression of their adjacent genes. Interestingly, we found that a subset of TE insertion polymorphisms is associated with differential gene expression across accessions. Thus, although not having a global impact on gene expression, distinct TE insertions may contribute to specific gene expression patterns in B. distachyon.

scholarly journals Prelesional arterial endothelial phenotypes in hypercholesterolemia: universal ABCA1 upregulation contrasts with region-specific gene expression in vivo

2010 ◽  
Vol 298 (1) ◽  
pp. H163-H170 ◽  
Author(s):  
Mete Civelek ◽  
Gregory R. Grant ◽  
Chrysta R. Irolla ◽  
Congzhu Shi ◽  
Rebecca J. Riley ◽  
...  
Keyword(s):  
Gene Expression ◽  
Expression Profiles ◽  
Flow Characteristics ◽  
Gene Expression Profiles ◽  
Specific Gene ◽  
Endothelial Phenotype ◽  
Regional Hemodynamics ◽  
Transcript Profiles ◽  
Endothelial Gene Expression

Atherosclerosis originates as focal arterial lesions having a predictable distribution to regions of bifurcations, branches, and inner curvatures where blood flow characteristics are complex. Distinct endothelial phenotypes correlate with regional hemodynamics. We propose that systemic risk factors modify regional endothelial phenotype to influence focal susceptibility to atherosclerosis. Transcript profiles of freshly isolated endothelial cells from three atherosusceptible and three atheroprotected arterial regions in adult swine were analyzed to determine the initial prelesional effects of hypercholesterolemia on endothelial phenotypes in vivo. Cholesterol efflux transporter ATP-binding cassette transporter A1 (ABCA1) was upregulated at all sites in response to short-term high-fat diet. Proinflammatory and antioxidative endothelial gene expression profiles were induced in atherosusceptible and atheroprotected regions, respectively. However, markers for endoplasmic reticulum stress, a signature of susceptible endothelial phenotype, were not further enhanced by brief hypercholesterolemia. Both region-specific and ubiquitous (ABCA1) phenotype changes were identified as early prelesional responses of the endothelium to hypercholesterolemia.

scholarly journals Imaging transcriptomics of brain disorders

2021 ◽  
Author(s):  
Aurina Arnatkeviciute ◽  
Ben Fulcher ◽  
Mark Bellgrove ◽  
Alex Fornito
Keyword(s):  
Gene Expression ◽  
Brain Structure ◽  
Ex Vivo ◽  
Specific Gene ◽  
Brain Disorders ◽  
Spatiotemporal Resolution ◽  
Indirect Measures ◽  
Regional Vulnerability ◽  
Brain Structure And Function ◽  
And Function

Non-invasive neuroimaging is a powerful tool for quantifying diverse aspects of brain structure and function invivo and has been used extensively to map the neural changes associated with different brain disorders. However,most neuroimaging techniques have limited spatiotemporal resolution and offer only indirect measures ofunderlying pathological mechanisms. The recent development of anatomically comprehensive gene-expressionatlases has opened new opportunities for studying the transcriptional correlates of non-invasively measured neuralphenotypes, offering a rich framework for evaluating pathophysiological hypotheses and putative mechanisms.Here, we overview some fundamental methods in imaging transcriptomics and outline their application tounderstanding brain disorders of neurodevelopment, adulthood, and neurodegeneration. Converging evidenceindicates that spatial variations in gene expression are linked to normative changes in brain structure during agerelatedmaturation and neurodegeneration that are in part associated with cell-specific gene expression markersof gene expression. Transcriptional correlates of disorder-related neuroimaging phenotypes are also linked totranscriptionally dysregulated genes identified in ex vivo analyses of patient brains. Modeling studies demonstratethat spatial patterns of gene expression are involved in regional vulnerability to neurodegeneration and the spreadof disease across the brain. This growing body of work supports the utility of transcriptional atlases in testinghypotheses about the molecular mechanism driving disease-related changes in macroscopic neuroimagingphenotypes.

scholarly journals The effect of neurogenin3 deficiency on pancreatic gene expression in embryonic mice

2006 ◽  
Vol 37 (2) ◽  
pp. 301-316 ◽  
Author(s):  
Andreas Petri ◽  
Jonas Ahnfelt-Rønne ◽  
Klaus Stensgaard Frederiksen ◽  
David George Edwards ◽  
Dennis Madsen ◽  
...  
Keyword(s):  
Gene Expression ◽  
Microarray Analysis ◽  
Molecular Mechanisms ◽  
Homeobox Gene ◽  
Specific Gene ◽  
Wild Type ◽  
Specific Gene Expression ◽  
And Function ◽  
Deficient Mice

To understand the molecular mechanisms regulating pancreatic endocrine development and function, pancreatic gene expression was compared between Ngn3-deficient mice and littermate controls on embryonic days 13 and 15. Microarray analysis identified 504 genes with significant differences in expression. Fifty-two of these showed at least twofold reduction in Ngn3 knockouts compared to controls. Many of them were previously described to be involved in endocrine development and function. Among the genes not previously characterized were Rhomboid veinlet-like 4, genes involved in tetrahydrobiopterin biosynthesis and the Iroquois-type homeobox gene Irx1, the latter was selected for further investigation. In situ hybridisation demonstrated that two Iroquois genes, Irx1 and Irx2, were expressed in pancreatic endoderm of wild-type, but not Ngn3 mutant embryos. Furthermore, ectopic Ngn3 induced prominent Irx2 expression in chicken endoderm. Co-labelling established that Irx1 and Irx2 mRNA is located to glucagon-, but not insulin- or somatostatin-producing cells in mice and chicken. These data suggest that Irx1 and Irx2 serve an evolutionary conserved role in the regulation of α-cell-specific gene expression.

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