1.IgG Fc binding protein (FCGBP) as a prognostic marker of low-grade glioma and its correlation analysis with immune infiltration.
Qiao LIU ; Jiarui ZHANG ; Fuqin ZHANG ; Wei ZHANG ; Li GONG
Chinese Journal of Cellular and Molecular Immunology 2023;39(8):686-692
Objective To identify the possibility of IgG Fc binding protein (FCGBP) acting as a prognostic marker of low-grade glioma (LGG) and its correlation with immune infiltration. Methods The expression of FCGBP was analyzed in pan-cancer using The Cancer Genome Atlas (TCGA), Genotypic tissue expression (GTEX), and China Glioma Genome Atlas (CGGA) database. Then, GSE15824 and GSE68848 datasets were selected for further verification. And gene expression Profile Interaction analysis (GEPIA) database and R language were used to analyze the relationship between FCGBP and survival prognosis. Metascape and GSEA were used for functional annotation and enrichment analysis. Finally, the expression of FCGBP gene in LGG immune microenvironment and its correlation with immune cells were analyzed by TIMER database. Results FCGBP was highly expressed in LGG tissues, indicating poor prognosis of LGG patients. Receiver operating characteristic (ROC) curve analysis and COX analysis showed that FCGBP was an independent risk factor for the prognosis of LGG. Moreover, Gene Ontology (GO) demonstrated that FCGBP was involved in cell metabolism, localization, positive, and negative regulation of biological processes, as well as biological adhesion, response to viral and microbial stimulation, and inflammation. GSEA pathway enrichment analysis showed that FCGBP was significantly correlated with Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway, Toll-like receptor (TLR) pathway, chemokine pathway, and P53 pathway. In addition, FCGBP expression was positively correlated with the expression of most immune cells in the immune microenvironment of LGG. Conclusion The high expression of FCGBP in LGG is a risk factor for survival and prognosis, and it is positively correlated with the expression of immune cells.
Humans
;
Prognosis
;
Glioma/genetics*
;
China
;
Gene Ontology
;
Immunoglobulin G
;
Tumor Microenvironment
;
Cell Adhesion Molecules
2.The growth inhibition effects of TSLC1 gene on human hepatocyte carcinoma cell line HepG2.
Li QIN ; Zheng-mao ZHANG ; You-hua HAO ; Bao-ju WANG ; Xin-xing YANG ; Yong-jun TIAN ; Dong-liang YANG
Chinese Journal of Hepatology 2007;15(7):509-512
OBJECTIVESTo study the effects of tumor suppressor in lung cancer-1 (TSLC1) on human hepatocyte carcinoma cell line HepG2.
METHODSA full length of TSLC1 cDNA was amplified from RNA of normal human liver cells by RT-PCR, and it was cloned into a pCI-neo expression vector and transfected into human hepatocellular carcinoma cell line HepG2. The HepG2 cells transfected with this plasmid (experimental group) and those treated with pCI-neo vector (control group) and without any treatment (blank group) were compared. Cell morphology was studied microscopically and cell growth was analyzed with MTT assay. FACSort flow cytometry analysis was performed to assess the cell cycle distribution and apoptosis.
RESULTSA stable cell line expressing TSLC1 protein was successfully established. Morphologically, cells of the experimental group were tightly aggregated when compared with those of the control and blank groups. The growth of TSLC1-transfected cells was significantly suppressed in vitro compared with those of the control and blank groups. The amount of G0-G1 cells was 63.66%+/-3.83% (P less than 0.01) in the experimental group, while those of the control and blank groups were 47.45%+/-0.91% and 54.47%+/-0.96% respectively. The amount of S phase cells in the experimental group, 22.90%+/-6.04%, was significantly lower (P less than 0.05) than that of the control group (36.58%+/-0.61%) and the blank group (33.61%+/-2.99%), which suggested a G0-G1 cell cycle arresting. The number of cells in early and late phase apoptosis (17.09%+/-0.20% and 16.11%+/-0.40% respectively) were significantly higher than those of the control and blank groups (P less than 0.01).
CONCLUSIONSTSLC1 strongly inhibits the growth of HepG2 cells in vitro and induces apoptosis of the cells, suggesting that TSLC1 may have a tumor suppressor function in HCC.
Apoptosis ; genetics ; Cell Adhesion Molecule-1 ; Cell Adhesion Molecules ; Cell Proliferation ; Hep G2 Cells ; Humans ; Immunoglobulins ; genetics ; Membrane Proteins ; genetics ; Transfection ; Tumor Suppressor Proteins ; genetics
3.Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy.
Journal of Zhejiang University. Medical sciences 2006;35(2):228-232
Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral loss of vision. The gene responsible for GDLD, M1S1 is mapped on the short arm of chromosome 1 (1p), but the possible etiology of this disease remains unclear. Corneal transplantation is the only treatment for visual rehabilitation. The detection of the mutations of the M1S1 gene and the possible etiological involvement of the amyloid deposits are discussed. The current literatures are extensively reviewed in this article.
Antigens, Neoplasm
;
genetics
;
Cell Adhesion Molecules
;
genetics
;
Chromosomes, Human, Pair 1
;
genetics
;
Corneal Dystrophies, Hereditary
;
diagnosis
;
genetics
;
therapy
;
DNA Mutational Analysis
;
Epithelial Cell Adhesion Molecule
;
Humans
;
Mutation
4.Analysis of NRXN1 gene deletion in an autistic patient.
Shuxiang ZHOU ; Bingwen SONG ; Ni LIU ; Sainan TAN ; Yiqiong YANG ; Xiaomin ZHANG ; Hunjin LUO
Chinese Journal of Medical Genetics 2019;36(9):935-937
OBJECTIVE:
To explore the genetic basis for a patient with autism.
METHODS:
High-throughput sequencing was carried out to detect copy number variations in the patient.
RESULTS:
DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother.
CONCLUSION
Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder
;
genetics
;
Cell Adhesion Molecules, Neuronal
;
genetics
;
DNA Copy Number Variations
;
Gene Deletion
;
Humans
;
Male
;
Nerve Tissue Proteins
;
genetics
5.Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays.
Lixia WANG ; Panlai SHI ; Hua'nan REN ; Shuyuan XUE ; Xiangdong KONG
Chinese Journal of Medical Genetics 2022;39(11):1200-1204
OBJECTIVE:
To summarize the genetic diagnosis, low-depth copy number variation sequencing (CNV-seq) and prenatal finding in 7 fetuses with 2p16.3 deletions only involving the NRXN1 gene.
METHODS:
The 7 fetuses have all been found to have loss of heterozygosity at 2p16.3 by CNV-seq, which were verified by quantitative real-time PCR (qPCR). Specific regions of NRXN1 gene deletions were identified, and the CNVs were verified in their parents. Outcome of the pregnancies were followed up.
RESULTS:
Among 16 502 prenatal samples, 7 fetuses were found to harbor a 120 kb ~ 900 kb microdeletion in the 2p16.3 region, which yielded a prevalence of 0.424‰. The deleted region mainly involved 50 200 000-51 880 000 positions of chromosome 2 and involved only the NRXN1 gene. All of the 7 fetal CNVs were confirmed by qPCR, including 2 cases with heterozygous deletion of exons 1 to 6, 1 with heterozygous deletion of exons 1 to 19, 1 with heterozygous deletion of exons 19 to 22, and 3 with heterozygous deletion of introns 6 to 7 of the NRXN1 gene. Verification in the parents had found that one deletion was inherited from the father, 1 was from the mother, 2 cases were de novo in origin, whilst the remaining 3 had refused parental verification. After genetic counseling, one couple had elected induced abortion, 1 case has not been born yet, whilst the other 5 cases were born healthy. Follow up had identified no mental abnormalities among the children.
CONCLUSION
Seven fetuses with heterozygous 2p16.3 deletions only involving the NRXN1 gene were detected by CNV-seq. The specific deletion of the NRXN1 gene was verified by qPCR. Prenatal genetic counseling and fertility guidance has been provided to the particular family by combining the results of CNV testing, pedigree analysis and pregnancy outcome.
Female
;
Humans
;
Pregnancy
;
Calcium-Binding Proteins/genetics*
;
Cell Adhesion Molecules, Neuronal/genetics*
;
DNA Copy Number Variations
;
Nerve Tissue Proteins/genetics*
;
Neural Cell Adhesion Molecules/genetics*
;
Prenatal Diagnosis
;
Real-Time Polymerase Chain Reaction
;
Infant, Newborn
6.Expression of cell adhesion molecules in acute leukemia cell.
Xiaoping JU ; Min PENG ; Xiaoping XU ; Shuqing LU ; Yao LI ; Kang YING ; Yi XIE ; Yumin MAO ; Fang XIA
Chinese Journal of Hematology 2002;23(11):581-584
OBJECTIVETo investigate the role of cell adhesion molecule in the development and extramedullary infiltration (EI) of acute leukemia.
METHODSThe expressions of neural cell adhesion molecule (NCAM) gene, intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule (VCAM-1) genes in 25 acute leukemia patients bone marrow cells were detected by microarray and reverse transcriptase-polymerase chain reaction (RT-PCR).
RESULTSThe expressions of NCAM, ICAM-1 and VCAM-1 gene were significantly higher in acute leukemia cells and leukemia cells with EI than in normal tissues and leukemia cells without EI, respectively, both by cDNA microarray and by RT-PCR.
CONCLUSIONThe cDNA microarray is a powerful technique in analysis of acute leukemia cells associated genes. High expressions of cell adhesion molecule genes might be correlated with leukemia pathogenesis and infiltration of acute leukemia cell.
Acute Disease ; Adolescent ; Adult ; Aged ; Bone Marrow Cells ; metabolism ; pathology ; Cell Adhesion Molecules ; genetics ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Intercellular Adhesion Molecule-1 ; genetics ; Leukemia, Myeloid ; genetics ; pathology ; Male ; Middle Aged ; Neural Cell Adhesion Molecules ; genetics ; Oligonucleotide Array Sequence Analysis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; pathology ; RNA, Messenger ; genetics ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Vascular Cell Adhesion Molecule-1 ; genetics
7.Effect of TSLC1 gene on proliferation, invasion and apoptosis of human hepatocellular carcinoma cell line HepG2.
Li, QIN ; Wentao, ZHU ; Tao, XU ; Youhua, HAO ; Zhengmao, ZHANG ; Yongjun, TIAN ; Dongliang, YANG
Journal of Huazhong University of Science and Technology (Medical Sciences) 2007;27(5):535-7
The recombinant plasmid pCI-TSLC1 carrying TSLC1 gene was stably transfected into human hepatocellular carcinoma cell line HepG2. Cell proliferation was analyzed by MTT assay. The ability of migration was determined by transwell and FACSort flow cytometry was used to detect the cell cycle distribution and apoptosis. Western blotting revealed that H4 expressed higher amounts of TSLC1 protein than H15 and H0 did. The growth of TSLC1-transfected cells was significantly suppressed in vitro, and the ability of migration was reduced as well. The re-expression of TSLC1 could induce cell apoptosis. It was concluded that TSLC1 strongly inhibited the growth and ability of migration of HepG2 cell line in vitro and also induced apoptosis, suggesting that TSLC1 could reduce the tumorigenicity of human hepatocellular carcinoma cell line HepG2 in vitro, which provided a basis for further exploring the roles of TSLC1 in hepatocellular cellular carcinoma.
Apoptosis/*genetics
;
Cell Adhesion Molecules/*genetics
;
Cell Proliferation
;
Hep G2 Cells
;
Immunoglobulins/*genetics
;
Neoplasm Invasiveness/genetics
;
Transfection
;
Tumor Suppressor Proteins/*genetics
8.Influence of acute hypoxia on CHL1 expression in different tissues of mice.
Jia SUN ; Xin HUANG ; Ling-ling ZHU ; Kui-wu WU ; Ming FAN
Chinese Journal of Applied Physiology 2011;27(3):280-283
OBJECTIVETo observe the effects of acute hypoxia on the cell adhesion molecule close homologue of L1 (CHL1) expression in different brain areas and main organs (heart, lung, kidney) of mice, and provide a basis for the role of CHL1 in hypoxia injury.
METHODSMice were randomly divided into two groups (n=10): normoxia group and hypoxia group. Hypoxia group were treated by acute hypoxia (8% O2, 8 h). Protein expression changes in different tissues were evaluated by Western blot.
RESULTSIn central nervous system, CHL1 protein expressions were down-regulated in cerebral cortex, hypothalamus and brain stem by acute hypoxia and up-regulated in cerebellum. In heart and lung, CHL1 protein expression were down-regulated by acute hypoxia.
CONCLUSIONCHL1 protein expressions were changed in different tissues after acute hypoxia, which suggested CHL1 might play an important role in hypoxia damage regulation.
Animals ; Brain ; metabolism ; Cell Adhesion Molecules ; genetics ; metabolism ; Hypoxia ; metabolism ; Lung ; metabolism ; Male ; Mice ; Myocardium ; metabolism ; Tissue Distribution
9.Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7.
Ying ZHANG ; Shuya YANG ; Xiaodong HUO ; Shixiu LIAO ; Qiaofang HOU
Chinese Journal of Medical Genetics 2022;39(2):194-197
OBJECTIVE:
To explore the genetic basis for a couple who had developed polyhydramnios during three pregnancies and given birth to two liveborns featuring limb contracture, dyspnea and neonatal death.
METHODS:
Whole-exome sequencing (WES) was carried out on fetal tissue and peripheral blood samples from the couple. Suspected variants were verified by Sanger sequencing.
RESULTS:
The fetus was found to harbor homozygous nonsense c.3718C>T (p.Arg1240Ter) variants of the CNTNAP1 gene, which were respectively inherited from its mother and father. The variant was unreported previously. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).
CONCLUSION
The novel homozygous nonsense variants of the CNTNAP1 gene probably underlay the lethal congenital contracture syndrome type 7 (LCCS7) in this pedigree. Above finding has enabled genetic counseling and prenatal diagnosis for the family.
Cell Adhesion Molecules, Neuronal
;
China
;
Contracture/genetics*
;
Female
;
Humans
;
Infant, Newborn
;
Mutation
;
Pedigree
;
Pregnancy
;
Whole Exome Sequencing
10.Molecular genetics of atrioventricular septal defects.
Chinese Journal of Pediatrics 2005;43(5):390-392