Spatiotemporal expression of murine carcinoembryonic antigen (CEA) gene family members during mouse embryogenesis

Development ◽  
1990 ◽  
Vol 110 (2) ◽  
pp. 573-588
Author(s):  
J.Q. Huang ◽  
C. Turbide ◽  
E. Daniels ◽  
S. Jothy ◽  
N. Beauchemin

Carcinoembryonic antigen is a glycosylated protein used as a human tumor marker to assess recurrences of gastrointestinal, breast and lung cancers. This protein is a member of the immunoglobulin supergene family and has been shown to function as a homophilic and heterophilic cell adhesion molecule. We have studied the spatial and temporal expression of two cloned mouse CEA gene family members during development using Northern analyses and in situ hybridization. Transcripts detected by the mouse CEA probes are expressed from 10.5 days post coitum (p.c.) to birth in mouse embryos and fetuses and are present from 16.5 days p.c. to adulthood in intestine and colon as evaluated by Northern analyses. The RNA is also present in many other tissues including meninges, cartilage and bone, blood vessel walls, placenta, dermis, muscle layers of the stomach and intestine and bronchioles of developing mouse embryos and fetuses. This expression pattern is similar to that of proteins of the Transforming Growth Factor beta gene family. The role of mouse CEA gene family members is unclear; however, the localizations of these CEA family members in the mouse embryo and fetus suggest an important functional role during active morphogenesis, a complex process in which cell adhesion molecules are significantly involved.

2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.


Genomics ◽  
1992 ◽  
Vol 12 (4) ◽  
pp. 761-772 ◽  
Author(s):  
J. Thompson ◽  
W. Zimmermann ◽  
P. Osthus-Bugat ◽  
C. Schleussner ◽  
A.-M. Eades-Perner ◽  
...  

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Jiayu Shen ◽  
Shuqian Yu ◽  
Xiwen Sun ◽  
Meichen Yin ◽  
Jing Fei ◽  
...  

Abstract Background Ovarian cancer (OC) is the deadliest cause in the gynecological malignancies. Most OC patients are diagnosed in advanced stages with less than 40% of women cured. However, the possible mechanism underlying tumorigenesis and candidate biomarkers remain to be further elucidated. Results Gene expression profiles of GSE18520, GSE54388, and GSE27651 were available from Gene Expression Omnibus (GEO) database with a total of 91 OC samples and 22 normal ovarian (OV) tissues. Three hundred forty-nine differentially expressed genes (DEGs) were screened between OC tissues and OV tissues via GEO2R and online Venn software, followed by KEGG pathway and gene ontology (GO) enrichment analysis. The enriched functions and pathways of these DEGs contain male gonad development, cellular response to transforming growth factor beta stimulus, positive regulation of transcription from RNA polymerase II promoter, calcium independent cell-cell adhesion via plasma membrane cell adhesion molecules, extracellular matrix organization, pathways in cancer, cell cycle, cell adhesion molecules, PI3K-AKT signaling pathway, and progesterone mediated oocyte maturation. The protein-protein network (PPI) was established and module analysis was carried out using STRING and Cytoscape. Next, with PPI network analyzed by four topological methods in Cytohubba plugin of Cytoscape, 6 overlapping genes (DTL, DLGAP5, KIF15, NUSAP1, RRM2, and TOP2A) were eventually selected. GEPIA and Oncomine were implemented for validating the gene expression and all the six hub genes were highly expressed in OC specimens compared to normal OV tissues. Furthermore, 5 of 6 genes except for DTL were associated with worse prognosis using Kaplan Meier-plotter online tool and 3 of 6 genes were significantly related to clinical stages, including RRM2, DTL, and KIF15. Additionally, cBioPortal showed that TOP2A and RRM2 were the targets of cancer drugs in patients with OC, indicating the other four genes may also be potential drug targets. Conclusion Six hub genes (DTL, DLGAP5, KIF15, NUSAP1, RRM2, and TOP2A) present promising predictive value for the development and prognosis of OC and may be used as candidate targets for diagnosis and treatment of OC.


1989 ◽  
Vol 158 (3) ◽  
pp. 996-1004 ◽  
Author(s):  
John A. Thompson ◽  
Eva-Maria Mauch ◽  
Fun-Shan Chen ◽  
Yuji Hinoda ◽  
Heinrich Schrewe ◽  
...  

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