1.Genome instability and lymphoma.
Pengfei CAO ; Guiyuan LI ; Juanjuan XIANG
Journal of Central South University(Medical Sciences) 2021;46(5):552-557
Lymphoma is one of the most common malignant tumor of the hematologic system. The genome instability is not only an important molecular basis for the development of lymphoma, but also has important value in the diagnosis and prognosis of lymphoma. There are 2 types of genome instability: Microsatellite instability (MSI/MIN) at gene level and chromosomal instability at chromosome level. Through the study on genes associated with lymphoma, the unstable genes associated with lymphoma could be found, meanwhile the mechanism of its occurrence and development of lymphoma could be explored, and the important basis of molecular biology could also be provided in the field of current hot lymphoma precision medical research.
Genomic Instability
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Humans
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Lymphoma/genetics*
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Microsatellite Instability
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Microsatellite Repeats
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Neoplasms
2.Study on the relation between the absence of one IS100 in 102 kb pgm locus of Yersinia pestis and the stability of pigmentation phenotype.
En-min ZHANG ; Rong HAI ; Zhi-kai ZHANG ; Dong-zheng YU
Chinese Journal of Epidemiology 2004;25(10):886-889
OBJECTIVETo study the relation between the absence of one IS100 in the 102 kb pgm locus of Yersinia pestis and the stability of pigmentation phenotype (pgm(+)).
METHODSWe amplified the segment including IS100 in 102 kb pgm locus of Yersinia pestis that isolated from all ecotypes in China by polymerase chain reaction (PCR). There were 171 strains isolated from 18 ecotypes in this study. One strain was chosen to be cloned and sequenced.
RESULTSBesides the type of Microtus brandti, the types of East-North Tianshan, A and B of West-North Tianshan, Microtus Qinghai had one band with about 2560 bp. These strains lost one IS100 in 102 kb pgm locus of Yersinia pestis. Their pgm(+) phenotype was stable. Some strains of ecotypes from Qilian Mountain, Qinghai-Tibet Plateau, Gangdisi Mountain, West Yunnan Mountain had no bands in the PCR products. Negative strains would lose the whole 102 kb pgm locus. The others had one band with 4492 bp. These strains had two IS100 which flanked the 102 kb pgm locus but the pgm(+) phenotype was unstable.
CONCLUSIONYersinia pestis which had only one IS100 would flank the 102 kb pgm locus and had stable pgm(+) phenotype while the Yersinia pestis that having two IS100 flanked the 102 kb pgm locus would have unstable pgm(+) phenotype.
Bacterial Proteins ; genetics ; metabolism ; Cloning, Molecular ; DNA, Bacterial ; genetics ; Genetic Variation ; Genomic Instability ; Phenotype ; Pigmentation ; genetics ; Yersinia pestis ; genetics
3.Chromosomal instability is more frequent in metastasized than in non-metastasized pulmonary carcinoids but is not a reliable predictor of metastatic potential.
Arne WARTH ; Esther HERPEL ; Sabine KRYSA ; Hans HOFFMANN ; Philipp A SCHNABEL ; Peter SCHIRMACHER ; Gunhild MECHTERSHEIMER ; Hendrik BLAKER
Experimental & Molecular Medicine 2009;41(5):349-353
Pulmonary carcinoids are infrequent neoplasms of the lung that normally display a less aggressive biological behavior compared to small cell and non-small cell lung cancers. Approximately 15-25% of carcinoids, in particular atypical carcinoids, show lymph node metastasis and have a worse prognosis than their non-metastasized counterparts. To date, there is no morphological or molecular marker that may help to differentiate between carcinoids that metastasize and carcinoids of identical differentiation that show only local tumor growth. In this study, we analyzed 7 metastasized and 10 non-metastasized pulmonary carcinoids for chromosomal and microsatellite instability in order to determine whether microsatellite instability or chromosomal imbalances are associated with metastasis. Due to the rare occurrence of metastasized carcinoids we compared our results of chromosomal instability with the hitherto published comparative genomic hybridization (CGH) profiles of pulmonary carcinoids, for which information about the absence or presence of metastasis was available. While microsatellite instability was not detected we found chromosomal instability as a common event in pulmonary carcinoids with an increase of frequency and extent of chromosomal alterations in atypical and metastasized carcinoids. These findings are in accordance with the collected and herein compiled data of previous studies and indicate increasing numbers of chromosomal imbalances to play a role in the sequential process of tumor development and metastasis.
Carcinoid Tumor/*genetics/pathology/*secondary
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Chromosomal Instability/*genetics
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Comparative Genomic Hybridization
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Humans
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Lung Neoplasms/*genetics/pathology
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Lymphatic Metastasis
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Prognosis
4.Chromosomal instability is more frequent in metastasized than in non-metastasized pulmonary carcinoids but is not a reliable predictor of metastatic potential.
Arne WARTH ; Esther HERPEL ; Sabine KRYSA ; Hans HOFFMANN ; Philipp A SCHNABEL ; Peter SCHIRMACHER ; Gunhild MECHTERSHEIMER ; Hendrik BLAKER
Experimental & Molecular Medicine 2009;41(5):349-353
Pulmonary carcinoids are infrequent neoplasms of the lung that normally display a less aggressive biological behavior compared to small cell and non-small cell lung cancers. Approximately 15-25% of carcinoids, in particular atypical carcinoids, show lymph node metastasis and have a worse prognosis than their non-metastasized counterparts. To date, there is no morphological or molecular marker that may help to differentiate between carcinoids that metastasize and carcinoids of identical differentiation that show only local tumor growth. In this study, we analyzed 7 metastasized and 10 non-metastasized pulmonary carcinoids for chromosomal and microsatellite instability in order to determine whether microsatellite instability or chromosomal imbalances are associated with metastasis. Due to the rare occurrence of metastasized carcinoids we compared our results of chromosomal instability with the hitherto published comparative genomic hybridization (CGH) profiles of pulmonary carcinoids, for which information about the absence or presence of metastasis was available. While microsatellite instability was not detected we found chromosomal instability as a common event in pulmonary carcinoids with an increase of frequency and extent of chromosomal alterations in atypical and metastasized carcinoids. These findings are in accordance with the collected and herein compiled data of previous studies and indicate increasing numbers of chromosomal imbalances to play a role in the sequential process of tumor development and metastasis.
Carcinoid Tumor/*genetics/pathology/*secondary
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Chromosomal Instability/*genetics
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Comparative Genomic Hybridization
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Humans
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Lung Neoplasms/*genetics/pathology
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Lymphatic Metastasis
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Prognosis
5.Association of genomic instability of CDH1 gene with clinicopathological characteristics of gastric cancer.
Jitao DU ; Xiangbin WAN ; Huiliang ZHANG ; Jian CAO ; Wen ZHAO ; Zhi LI
Chinese Journal of Medical Genetics 2022;39(11):1279-1282
OBJECTIVE:
To assess the association of genomic instability of epithelial cadherin 1 (CDH1) gene and clinicopathological characteristics of gastric cancer.
METHODS:
In total 120 paraffin-embedded gastric cancer tissue specimen were prepared, and genomic DNA was extracted. The genomic instability of the CDH1 gene was analyzed by immunohistochemistry and silver staining PCR-single-strand conformation polymorphism.
RESULTS:
The number of information individuals (heterozygotes) was 98 for the D16S752 locus. The detection rates for microsatellite instability (MSI) and loss of heterozygosity (LOH) at the D16S752 locus and the positive rate of CDH1 protein were 19.39%, 16.33% and 51.02%, respectively. The detection rate of MSI in TNM stages I or II was significantly higher than that in stages III or IV (P<0.05) while the detection rate of LOH was significantly lower than that in stages III or IV (P<0.05). The positive rate of CDH1 protein in TNM stages III or IV was significantly lower than that in stages I or II (P<0.05). The detection rate of MSI of cases with lymph node metastasis was significantly lower than that of without lymph node metastasis (P<0.05) while the detection rate of LOH was significantly higher than that without lymph node metastasis (P<0.05). The positive rate of CDH1 protein in patients with lymph node metastasis was significantly lower than that in patients without lymph node metastasis (P<0.05). The positive rate of CDH1 protein in MSI-positive group was significantly higher than that in MSI-negative group (P<0.05), and the positive rate of CDH1 protein in the LOH-positive group was significantly lower than that the LOH-negative group (P<0.05).
CONCLUSION
The genomic instability of the CDH1 gene is associated with the progression of gastric cancer. MSI at the D16S752 locus may be used as a molecular marker for early gastric cancer, while LOH at this locus mostly occurs in advanced gastric cancer and can be regarded as an effective indicators for malignancy evaluation and prognosis.
Humans
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Stomach Neoplasms/pathology*
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Lymphatic Metastasis
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Cdh1 Proteins/genetics*
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Microsatellite Instability
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Loss of Heterozygosity
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Genomic Instability
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Microsatellite Repeats
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Antigens, CD/genetics*
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Cadherins/genetics*
6.Epigenetic Alterations and Loss of Imprinting in Colorectal Cancer.
Journal of the Korean Society of Coloproctology 2005;21(3):181-190
Two forms of genomic instability have been described in colorectal cancer: chromosomal (CIN) and microsatellite instability (MIN). Colorectal cancer has been considered to progress through one of these two major pathways. However, recently a CpG island methylator pathway (CIMP) has been established among sporadic MIN cancers. Aberrant methylation of a promoter CpG island is associated with inactivation of tumor suppressor genes and is one of the epigenetic alterations identified to be involved in tumorigenesis. Now, several types of epigenetic alterations appear to play roles complementary to genetic mutations in colorectal carcinogenesis and seem to contribute to the progression of cancer. Epigenetic alterations also increase the probability that genetic changes will lead to cancer initiation. So far, major epigenetic alterations have been categorized into four groups of dysregulations: 1) hypomethylation with oncogene activation and chromosomal instability, 2) hypermethylation with tumor suppressor gene silencing, 3) chromatin modifications, and 4) loss of imprinting (LOI). Especially, LOI is a common epigenetic variant and should have a field effect on the colon, making it more vulnerable to genetic insults. Genomic imprinting is parental-origin-specific allele silencing, a form of gene silencing that is epigenetic in origin and does not involving alterations in the DNA sequence but does involve methylation and other modifications that are heritable during cell division. LOI is the loss of parental-origin-specific marks, leading either to aberrant activation of a normally silent allele of a growth promoter gene or to silencing of the growth inhibitor allele. Most of the attention has been focused on LOI of the IGF2 (insulin-like growth factor II) gene in a Wilms' tumor and colorectal cancer. LOI of IGF2 involves abnormal activation of a normally silent maternally inherited allele and has been associated with personal and family history of colorectal cancer, supporting a role for LOI in carcinogenesis. LOI may be a valuable predictive marker of an individual's risk for colorectal cancer. Now, epigenetics and imprinting are emerging areas in the study of human-cancer genetics.
Alleles
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Base Sequence
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Carcinogenesis
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Cell Division
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Chromatin
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Chromosomal Instability
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Colon
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Colorectal Neoplasms*
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CpG Islands
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Epigenomics*
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Gene Silencing
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Genes, Tumor Suppressor
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Genetics
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Genomic Imprinting
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Genomic Instability
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Humans
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Methylation
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Microsatellite Instability
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Oncogenes
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Wilms Tumor
7."Smurf"-ing tumors on the chromatin through RNF20.
Protein & Cell 2012;3(2):81-83
8.Interplay between Epigenetics and Genetics in Cancer.
Genomics & Informatics 2013;11(4):164-173
Genomic instability, which occurs through both genetic mechanisms (underlying inheritable phenotypic variations caused by DNA sequence-dependent alterations, such as mutation, deletion, insertion, inversion, translocation, and chromosomal aneuploidy) and epigenomic aberrations (underlying inheritable phenotypic variations caused by DNA sequence-independent alterations caused by a change of chromatin structure, such as DNA methylation and histone modifications), is known to promote tumorigenesis and tumor progression. Mechanisms involve both genomic instability and epigenomic aberrations that lose or gain the function of genes that impinge on tumor suppression/prevention or oncogenesis. Growing evidence points to an epigenome-wide disruption that involves large-scale DNA hypomethylation but specific hypermethylation of tumor suppressor genes, large blocks of aberrant histone modifications, and abnormal miRNA expression profile. Emerging molecular details regarding the modulation of these epigenetic events in cancer are used to illustrate the alterations of epigenetic molecules, and their consequent malfunctions could contribute to cancer biology. More recently, intriguing evidence supporting that genetic and epigenetic mechanisms are not separate events in cancer has been emerging; they intertwine and take advantage of each other during tumorigenesis. In addition, we discuss the collusion between epigenetics and genetics mediated by heterochromatin protein 1, a major component of heterochromatin, in order to maintain genome integrity.
Biology
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Carcinogenesis
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Chromatin
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DNA
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DNA Methylation
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Epigenomics*
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Genes, Tumor Suppressor
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Genetics*
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Genome
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Genomic Instability
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Heterochromatin
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Histones
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MicroRNAs
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Sequence Deletion
9.Advances in research on the mechanism of DNA methylation in plants.
Chao YUAN ; Shaowei ZHANG ; Yi NIU ; Qinglin TANG ; Dayong WEI ; Zhimin WANG
Chinese Journal of Biotechnology 2020;36(5):838-848
DNA methylation is an epigenetic modification that forms an important regulation mechanism of gene expression in organisms across kingdoms. Aberrant patterns of DNA methylation can lead to plant developmental abnormalities. In this article, we briefly discuss DNA methylation in plants and summarize its functions and biological roles in regulating gene expression and maintaining genomic stability, plant development, as well as plant responses to biotic and abiotic stresses. We intended to provide a concise reference for further understanding of the mechanism of DNA methylation and potential applications of epigenetic manipulation for crop improvement.
Crop Production
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trends
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DNA Methylation
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Epigenesis, Genetic
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Gene Expression Regulation, Plant
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Genomic Instability
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Plants
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genetics
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Research
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trends
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Stress, Physiological
10.Study on preservation of Fritillaria anhuiensis by vitrification in vitro.
Yanfang ZHU ; Fei CHEN ; Jianping XUE ; Aimin ZHANG ; Wei SHENG ; Yunxian SONG
China Journal of Chinese Materia Medica 2011;36(18):2462-2464
OBJECTIVETo establish cryopreservation system of shoot-tips from Fritillaria anhuiensis.
METHODTaking vitrification as system of cryopreservation, the shoot tips with length 2-3 mm were precultured in MS medium enriched with 0.4 mol x L(-1) sucrose for 3 d. They were treated for 20 min with 60% PVS2 at 25 degrees C, and then subjected to ice-cooled vitrification solution for 60 min and transferred to 2 mL cryotubes with fresh vitrification solution (PVS2) and plunged into liquid nitrogen. After rapid thawing in 40 degrees C water bath for 1 min, shoot-tips were expelled into MS medium containing 1.2 mol x L(-1) sucrose for 20 min. Further recovery and growth took place on regeneration medium in the dark at 25 degrees C for 2 weeks, and then with light/dark cycle of 12/12 h. The genetic integrity of cryopreserved shoot-tips was identified through products of PCR with arbitrary primers.
RESULT AND CONCLUSIONThe highest survival rates of shoot-tips reached 79.9% by vitrification, and the regeneration rates were 52.3%. No changes were found between treated materials and untreated materials in genomic DNA.
Cryopreservation ; methods ; Cryoprotective Agents ; chemistry ; Fritillaria ; genetics ; metabolism ; Genomic Instability ; genetics ; Plant Shoots ; genetics ; metabolism ; Plants, Medicinal ; genetics ; metabolism ; Preservation, Biological ; Survival Analysis ; Vitrification