The eukaryotic genome is folded into higher-order conformation accompanied with constrained dynamics for coordinated genome functions. However, the molecular machinery underlying these hierarchically organized three-dimensional (3D) chromatin architecture and dynamics remains poorly understood. Here by combining imaging and sequencing, we studied the role of lamin B1 in chromatin architecture and dynamics. We found that lamin B1 depletion leads to detachment of lamina-associated domains (LADs) from the nuclear periphery accompanied with global chromatin redistribution and decompaction. Consequently, the inter-chromosomal as well as inter-compartment interactions are increased, but the structure of topologically associating domains (TADs) is not affected. Using live-cell genomic loci tracking, we further proved that depletion of lamin B1 leads to increased chromatin dynamics, owing to chromatin decompaction and redistribution toward nucleoplasm. Taken together, our data suggest that lamin B1 and chromatin interactions at the nuclear periphery promote LAD maintenance, chromatin compaction, genomic compartmentalization into chromosome territories and A/B compartments and confine chromatin dynamics, supporting their crucial roles in chromatin higher-order structure and chromatin dynamics.
BackgroundCongenital heart disease (CHD) is the leading non-infectious cause of death in infants. Monozygotic (MZ) twins share nearly all of their genetic variants before and after birth. Nevertheless, MZ twins are sometimes discordant for common complex diseases. The goal of this study is to identify genomic and epigenomic differences between a pair of twins discordant for a form of congenital heart disease, double outlet right ventricle (DORV).ResultsA monoamniotic monozygotic (MZ) twin pair discordant for DORV were subjected to genome-wide sequencing and methylation analysis. We identified few genomic differences but 1566 differentially methylated regions (DMRs) between the MZ twins. Twenty percent (312/1566) of the DMRs are located within 2 kb upstream of transcription start sites (TSS), containing 121 binding sites of transcription factors. Particularly, ZIC3 and NR2F2 are found to have hypermethylated promoters in both the diseased twin and additional patients suffering from DORV.ConclusionsThe results showed a high correlation between hypermethylated promoters at ZIC3 and NR2F2 and down-regulated gene expression levels of these two genes in patients with DORV compared to normal controls, providing new insight into the potential mechanism of this rare form of CHD.Electronic supplementary materialThe online version of this article (10.1186/s12864-018-4814-7) contains supplementary material, which is available to authorized users.
Objectives The present study aimed to evaluate the status and trends of robotic orthopedic surgery in a clinical setting using bibliometrics. Methods All relevant publications on the clinical use of robotic surgery in orthopedics were searched from the Web of Science database. Subsequently, data were analyzed using bibliometrics. Visualizing data of bibliographic coupling, co-citation, and co-occurrence analysis were performed using VOSviewer. Results In total, 224 clinical studies met the included standards between 2000 to 2019. Global publications presented an increasing annual trend, with the United States found to have the largest number of publications and robotic companies active in the field (n = 99), followed by China (n = 38), and the United Kingdom (n = 27). The institution with the most contributions was the Beijing Jishuitan Hospital in China (n = 15). The most productive scholars were Tian Wei and Mont Michael A, with 14 publications each. The top 30 most cited papers list showed 29 publications to be cited on more than 40 occassions. The journal with the most related and influential publications on robotic orthopedic surgery was the Journal of Arthroplasty. Fourteen types of robots were used, with the majority applied in knee and spinal surgery. MAKO was the most widely used robot in hip and knee surgery and Mazor in spinal surgery. Most studies were small sample populations of low-quality in this field. The top 20 most frequently used keywords were identified from 950 author keywords. Research on orthopedic robots were classified into two clusters by co-occurrence networks: spinal-related robotic surgery and joint-related robotic surgery. Conclusions The present bibliometric study summarizes the clinical research of orthopedic robots on study type, sample size, type of surgery, robot information, surgical site, most popular keywords, most cited papers, journals, authors, institutions, and countries. These findings may assist the scholars better understand the current status and research trends to guide future practice and directions.
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