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Dynamic Spatial-temporal Expression Ratio of x chromosome to Autosomes but Stable Dosage Compensation in Mammals

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Genomics, Proteomics & Bioinformatics 2023年第3期21卷 589-600页

作者： Sheng Hu Qian Yu-Li xiong Lu Chen Ying-Jie Geng xiao-Man Tang Zhen-xia Chen Hubei Key Laboratory of Agricultural Bioinformatics College of Life Science and TechnologyHuazhong Agricultural UniversityWuhan 430070China Hubei Hongshan Laboratory College of Biomedicine and HealthHuazhong Agricultural UniversityWuhan 430070China Interdisciplinary Sciences Institute Huazhong Agricultural UniversityWuhan 430070China

In the evolutionary model of dosage compensation,per-allele expression level of the x chromosome has been proposed to have twofold up-regulation to compensate its dose reduction in males(xY)compared to females(xx).However,the expression regulation of x-linked genes is still controversial,and comprehensive evaluations are still *** integrating multi-omics datasets in mammals,we investigated the expression ratios including x to autosomes(x:AA ratio)and x to orthologs(x:xx ratio)at the transcriptome,translatome,and proteome *** revealed a dynamic spatial-temporal x:AA ratio during development in humans and ***,by tracing the evolution of orthologous gene expression in chickens,platypuses,and opossums,we found a stable expression ratio of x-linked genes in humans to their autosomal orthologs in other species(x:xx1)across tissues and developmental stages,demonstrating stable dosage compensation in *** also found that different epigenetic regulations contributed to the high tissue specificity and stage specificity of x-linked gene expression,thus affecting x:AA *** could be concluded that the dynamics of x:AA ratios were attributed to the different gene contents and expression preferences of the x chromosome,rather than the stable dosage compensation.

关键词： Dosage compensation x chromosome Mammal Evolution RNA-seq

Aberration of x chromosome in liver neoplasm detected by fluorescence in situ hybridization

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Hepatobiliary & Pancreatic Diseases International 2004年第1期3卷 110-114页

作者： Jun Liu, Zhan-Min Wang, Shu-Fang Zhen, xiao-Peng Wu, Dao-xin Ma, Zhao-Hui Li, Bo Liu, Zhi-Lun Zhao and Yang Ke Jinan, China Department of General Surgery, Qilu Hospital, Shan- dong University, Jinan 250012, China Clinical Tumor Institute of Beijing Uni- versity, Beijing 100014, China Department of General Surgery Qilu Hospital Shandong University Jinan 250012 China. dr_liujun@***

BACKGROUND: A diverse range of cytogenetic alterations of autosomal chromosomes has been reported to date. However, few studies have addressed the abnormalities of x chromosome in hepatocellular carcinoma (HCC) except sporadic reports on the deletion of band F1 in x chromo- some , and the clonal analysis of methylation pattern of the x chromosome-linked human androgen receptor gene. Identification of specific x chromosome alterations during the course of neoplastic development would be essential to defining the genetic basis of HCC. Therefore, we studied the regularity of aberration of x chromosome in liver canc- er. METHODS: Hepatocarcinoma cellular lines and tumor tis- sues were detected respectively through DNA probes of x chromosome after fluorescence in situ hybridization ( FI- SH). RESULTS: Increased copies of x chromosome were ob- served in all samples, and four signals of hybridization were of the major type. CONCLUSIONS: Increased copy number of x chromo- some frequently occur in liver cancer. The relationship be- tween copy number of x chromosome and liver cancer genesis needs further investigation. This study is the first of its kind determining the copy number of x chromosome in liver cancer by using FISH.

关键词： liver neoplasm x chromosome fluorescence in situ hybridization

Re-evaluation of the function of the male specific lethal complex in Drosophila

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Journal of Genetics and Genomics 2011年第8期38卷 327-332页

作者： James Birchler Harvey Fernandez Ryan Donohue Abhijit Sanyal Division of Biological Sciences 311 Tucker HallUniversity of MissouriColumbiaMO 65211USA

A set of proteins and noncoding RNAs, referred to as the male specific lethal （MSL） complex, is present on the male x chromosome in Drosophila and has been postulated to be responsible for dosage compensation of this chromosome -- the up-regulation of its expression to be equal to that of two x chromosomes in females. This hypothesis is evaluated in view of lesser known aspects of dosage compensation such as the fact that metafemales with three x chromosomes also have equal expression to normal females, which would require a down-regulation of each gene copy Moreover, when this complex is ectopically expressed in females or specifically targeted to a reporter in males, there is no increase in expression of the genes or targets with which it is associated. These observations are not consistent with the hypothesis that the MSL complex conditions dosage compensation. A synthesis is described that can account for these observations.

关键词： Dosage compensation MSL Aneuploidy Gene balance hypothesis x chromosome

Association between monoamine oxidase A gene promoter 30 bp repeat polymorphism and tardive dyskinesia in Chinese schizophrenics

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Neural Regeneration Research 2006年第5期1卷 416-419页

作者： Changhe Fan Lihua Li Yan Fu Hehuang Deng xiangjiao Liao Youcai Zhou Guangdong Mental Health Institute Guangdong Provincial People＇s Hospital Guangzhou 510120 Guangdong Province China Guangzhou Psychiatric Hospital Guangzhou 510370 Guangdong Province China Affiliated Psychiatric Hospital of Guangzhou Municipal Bureau of Civil Administration Guangzhou 510430 Guangdong Province China

BACKGROUND ： The pathophysiology of tardive dyskinesia （TD） is not yet fully understood. With the hypothesis of altered dopaminergic neurotransmission, altered activities of dopamine degrading enzymes such as monoamine oxidase A （MAOA） and their coding genes are supposed to be related to the pathophysiology of TD. OBJECTIVE： To investigate possible association between 30 bp variable number tandem repeat （VNTR） polymorphism in the promoter of MAOA gene and susceptibility, severity of neuroleptic induced TD in Chinese Han people in Guandong Province. DESIGN ： Non-randomization-synchronization controlled study.SETTING： Guangdong Mental Health Institute, Guangdong Provincial People＇s Hospital; Guangzhou Psychiatric Hospital; Affiliated Psychiatric Hospital of Guangzhou Municipal Bureau of Civil Administration. PARTICIPANTS： A total of 179 subjects were enrolled in the study. All subjects were sporadic and genetically unrelated Chinese schizophrenic patients who were hospitalizing in Guangzhou Psychiatric Hospital or Affiliated Psychiatric Hospital of Guangzhou Municipal Bureau of Civil Administration during January to April 2005. The diagnosis of schizophrenia was made according to the criteria of Diagnostic and Statistic Manual of Mental Disorder-the third edition-revised （DSM-Ⅲ-R）. Among all patients, 88 were diagnosed as with TD and 91 without TD according to the research diagnostic criteria described by Schooler-Kane. Informed consent was obtained from all subjects or their relatives. METHODS ： ① TD seventy was assessed with the AIMS which was a 5-degree rating scale from 0 to 4 （corresponding to none, minimal, mild, moderate and severe, respectively）. The study was approved by the Ethics Committees of the two hospitals and informed consent was obtained from all subjects or their relatives. ② The polymerase chain reaction （PCR） and polyacrylamide gel electrophoresis （PAGE） techniques were used to detect MAOA gene 30 bp VNTR polymorphism in schizophrenic pa

关键词： tardive dyskinesia polymerase chain reaction gel electrophoresis diagnostic criteria monoamine oxidase tandem repeat Mental Health x chromosome diagnosis of

Study　on　the　Relationship　between　Cytogenetics　and　Phenotypic　Effect　in　Turner＇s　Syndrome

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Journal of Huazhong University of Science and Technology(Medical Sciences) 1996年第4期16卷 245-247,148页

作者：胡晓峰朱宝生林汉华舒丹陶德定王慕逖 Department of Paediatrics Tongji Hospital Tongji Medical University Wuhan Laboratory of Cytogenetics Yunnan Provincial People’s Hospital Yunnan

The cytogenetics and clinical stigmata in 5 cases of Turner's syndrome were studied. Three of them were non-mosaic i(xq) and two with partial monosome of a x chromosome short are (xp21), whose DNA replication patterns of inactive x chromosome were analyzed by RBG technique. Results showed that differences between the replication patterns in cases of x chromosome deletion (xp21) and normal females existed; that the behavior of abnormal x expressed nonrandom inactivation. It was suggested that the phenotype may be closely related with both x chromosome replication pattern and its inactivation behavior,which might be useful in genetic counselling.

关键词： DNA replication x chromosome phenotypic effect Turner's synDrome

Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with x-linked retinitis pigmentosa

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Chinese Medical Journal 2002年第6期115卷 833-836,149页

作者：刘立陈浩明刘木根金磊魏勇吴学军刘又鹗褚仁远柴建华上海复旦大学遗传学研究所人类基因组实验室上海200433 上海市闸北区眼科医院上海200071 复旦大学医学院附属眼科医院上海200031

Objective To detect mutations of the retinitis pigmentosa GTPase regulator (RPGR) gene in two Chinese x-linked retinitis pigmentosa families. Methods Fragments of exons 1-19 of the RPGR gene were amplified with intronic primers, using genomic DNA as template. The polymerase chain reaction (PCR) products were analysed by single-strand conformation polymorphism (SSCP) and direct sequencing. Mutations were identified by comparing DNA sequences of the patients with those of the normal *** Two novel mutations, c1536delC and E332x, were identified in exons 12 and 9 of the RPGR gene in both families. Each mutation was the first mutation found in their respective exons. Both mutations were predicted to cause premature termination, which resulted in truncated proteins without normal functions of the RPGR *** Both mutations are the genetic basis of the pathogenesis in the respective families. Our data might be helpful in analysing the function of the RPGR protein.

关键词： Eye Proteins Linkage (Genetics) Mutation x chromosome Carrier Proteins Female Humans Male Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Research Support, Non-U.S. Gov't Retinitis Pigmentosa Sequence Analysis, DNA

Association of an Increased Risk of Pre-eclampsia and Fetal Growth Restriction in Singleton and Twin Pregnancies with Female Fetuses

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Maternal-Fetal Medicine 2021年第1期3卷 18-23页

作者： Shilei Bi Lizi Zhang Zhijian Wang Jingman Tang Sushan xie Jingjin Gong Lin Lin Luwen Ren Lijun Huang Shanshan Zeng Jingsi Chen Lili Du Dunjin Chen Department of Obstetrics and Gynecology The Third Affiliated Hospital of Guangzhou Medical UniversityGuangzhouGuangdong 510150China Department of Obstetrics and Gynecology Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510150China Key Laboratory for Major Obstetric Diseases of Guangdong Province GuangzhouGuangdong 510150China Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes GuangzhouGuangdong 510150China

Objective: To investigate whether the fetal gender affects the incidence of pre-eclampsia (PE) and fetal growth restriction (FGR) in singleton and twin ***: This was a 10-year single-center, retrospective, cohort study from January 2009 to January 2019. A total of 57,129 singleton and 3699 twin pregnancies aged between 18-55 years old were recruited at the Third Affiliated Hospital of Guangzhou Medical University, China. We used multivariable logistic regression to analyze the effect of fetal gender on the incidence of PE and ***: In singleton pregnancies, the incidence rates of PE and FGR with a female fetus were higher than those with a male fetus (6.4% (1713/26,793)vs. 5.9% (1803/30,336),P < 0.05 and 3.5% (932/26,793)vs. 2.4% (745/30,336),P < 0.05, respectively). A female fetus was an independent risk factor for either PE or FGR (adjusted odds ratio: 1.169 or 1.563;95% confidence interval: 1.036-1.319 or 1.349-1.810, respectively). In twin pregnancies, the incidence of early-onset PE was greater in pregnancies with two females compared with two males or one male plus one female (4.6% (46/1003)vs. 4.1% (54/1305)vs. 2.4% (33/1391),P < 0.05). Female-female twins was an independent risk factor for PE (adjusted odds ratio: 1.367, 95% confidence interval: 1.011-1.849), especially early-onset ***: The female fetus was associated with PE in both singleton and twin pregnancies and was also a risk factor of FGR in singleton pregnancies.

关键词： Pre-eclampsia Fetal growth restriction Sex Singleton Twin pregnancies x chromosome Risk factor Placenta derived disease