Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report

Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic connective tissue nevi, sometimes with sclerotic bone lesions like osteopoikilosis or melorheostosis. However, BOS may develop severe, symptomatic complications that require surgical intervention. Here we report a 9-year-8-month girl presenting with multiple nonpruritic, nonpainful skin plaques scattered around the trunk, buttocks, and bilateral legs. She had a history of right varus foot with inadequate plantar flexion. Upon visiting, obvious leg length discrepancy (LLD) was noted. Lesional biopsy revealed increased fibroblasts within dermal collagen bundles. Verhoeff-van Gieson stain revealed scattered foci of thickened elastic fibers between collagen fibers, especially in the mid-dermis. Radiographic examination of the lower extremities showed multiple small, round-to-oval shaped, radiopaque spots on the pelvic bones, femurs, tibiae, and both feet. Hyperostosis along the long axis with “dripping candle wax” appearance was characteristic of osteopoikilosis and melorheostosis. Genetic analysis showed heterozygous point mutation in exon 1 of LEMD3 gene (c.1323C>A, p.Y441X), confirming diagnosis of BOS. Sequential and epiphyseodesis were performed to correct LLD with a favorable outcome at 2-year follow-up. BOS associated with severe bone abnormalities is rare, but orthopedic surgical intervention can provide satisfactory outcome.     

DNMT3b protects centromere integrity by restricting R-loop-mediated DNA damage

This study used DNA methyltransferase 3b (DNMT3b) knockout cells and the functional loss of DNMT3b mutation in immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) cells to understand how DNMT3b dysfunction causes genome instability. We demonstrated that R-loops contribute to DNA damages in DNMT3b knockout and ICF cells. More prominent DNA damage signal in DNMT3b knockout cells was due to the loss of DNMT3b expression and the acquirement of p53 mutation. Genome-wide ChIP-sequencing mapped DNA damage sites at satellite repetitive DNA sequences including (peri-)centromere regions. However, the steady-state levels of (peri-)centromeric R-loops were reduced in DNMT3b knockout and ICF cells. Our analysis indicates that XPG and XPF endonucleases-mediated cleavages remove (peri-)centromeric R-loops to generate DNA beaks, causing chromosome instability. DNMT3b dysfunctions clearly increase R-loops susceptibility to the cleavage process. Finally, we showed that DNA double-strand breaks (DSBs) in centromere are probably repaired by error-prone end-joining pathway in ICF cells. Thus, DNMT3 dysfunctions undermine the integrity of centromere by R-loop-mediated DNA damages and repair.Subject terms: Double-strand DNA breaks, DNA methylation, Primary immunodeficiency disorders     

17β‐Oestradiol facilitates M2 macrophage skewing and ameliorates arrhythmias in ovariectomized female infarcted rats

Epidemiological studies have suggested a lower incidence of arrhythmia‐induced sudden cardiac death in women than in men. 17β‐oestradiol (E2) has been reported to have a post‐myocardial infarction antiarrhythmic effect, although the mechanisms have yet to be elucidated. We investigated whether E2‐mediated antioxidation regulates macrophage polarization and affects cardiac sympathetic reinnervation in rats after MI. Ovariectomized Wistar rats were randomly assigned to placebo pellets, E2 treatment, or E2 treatment +3‐morpholinosydnonimine (a peroxynitrite generator) and followed for 4 weeks. The infarct sizes were similar among the infarcted groups. At Day 3 after infarction, post‐infarction was associated with increased superoxide levels, which were inhibited by administering E2. E2 significantly increased myocardial IL‐10 levels and the percentage of regulatory M2 macrophages compared with the ovariectomized infarcted alone group as assessed by immunohistochemical staining, Western blot and RT‐PCR. Nerve growth factor colocalized with both M1 and M2 macrophages at the magnitude significantly higher in M1 compared with M2. At Day 28 after infarction, E2 was associated with attenuated myocardial norepinephrine levels and sympathetic hyperinnervation. These effects of E2 were functionally translated in inhibiting fatal arrhythmias. The beneficial effect of E2 on macrophage polarization and sympathetic hyperinnervation was abolished by 3‐morpholinosydnonimine. Our results indicated that E2 polarized macrophages into the M2 phenotype by inhibiting the superoxide pathway, leading to attenuated nerve growth factor‐induced sympathetic hyperinnervation after myocardial infarction.     

野生与栽培黄花蒿净光合速率对光强和CO2浓度的响应

比较了相同种源的野生和栽培黄花蒿(Artemisia annua L.)净光合速率对光强和CO2浓度的响应特性。结果表明,野生和栽培黄花蒿的光饱和点(LSP)分别为1 183和1 564μmol m-2s-1,光补偿点(LCP)为17和18μmol m-2s-1,最大净光合速率(Pmax)为18.78和22.38μmol m-2s-1,表观量子效率(AQY)为0.08和0.075μmol m-2s-1,表明黄花蒿的光合能力强,能够利用很高的光强,且对弱光的适应性也较强。栽培黄花蒿的Pmax、LSP和最大羧化速率(Vcmax)显著高于野生黄花蒿,两者的LCP、不包括光下呼吸的CO2补偿点、AQY、光下呼吸速率和最大电子传递速率(Jmax)差异不显著。强光下栽培黄花蒿主要通过提高Vcmax和Jmax等来增强光合能力,强的光合能力有利于黄花蒿的生长,因此在人工栽培黄花蒿的过程中应选择阳光充足的开阔生境。     

左右半结肠癌多组学分子特征差异的研究进展

结肠癌(colon cancer,CC)是一种常见的恶性肿瘤,其发病率和死亡率均占癌症前列.根据解剖学位置,CC可分为左半结肠癌(left-sided colon cancer,LCC)和右半结肠癌(right-sided colon cancer,RCC),两者在临床特征上表现出较大的差异.近些年来,随着生物学技术和...     

印度科学协会第68届科学年会——科学和技术发展对环境的影响

印度科学协会第68届科学年会于1981年1月3—7日在印度恒河谷地文化古城瓦腊纳西(Varanasi)的巴拉纳斯印度大学(Baranas Hindu University)举行,参加会议的有来自印度全国各地的代表以及加拿大、中国、捷克斯洛伐克、丹麦、法国、荷兰、日本、加纳、肯尼亚、孟加拉、波兰、叙利亚、瑞典、美国、苏联等国家的科学家共约3,500多人。中国科学院应邀派华南植物研究所王铸豪、地理研究所谭见安及作者参加了会议。     

不同水稻品系幼苗对砷（As）的耐性、吸收及转运

利用琼脂培养基模拟水稻生长的厌氧环境,研究了As对不同水稻品系幼苗生长的影响以及As在其体内的积累及转运特性.结果表明,不同浓度(0～4.0mg/L)的As对供试水稻品系根部干物质积累无显著影响(P>0.05).杂交稻与糯稻的地上部干物质积累随基质中As浓度的增加呈减小趋势,但低剂量的As(0.5mg/L)促进常规稻的生长.水稻地上部的As积累量随基质中As浓度的升高总体均呈增加趋势.水稻根系对As具有较强的吸收与累积能力.水稻根部As的积累量为156.31～504 03mg/kg,占总As含量的63.40～81.90%,远远高于其地上部As的积累量.相比于其它两个品系,糯稻的生物量积累高,耐性指数较大,根部及地上部对As的积累量较低,因此更适合种植在As污染土壤.     

RANBP2 and USP9x regulate nuclear import of adenovirus minor coat protein IIIa

As intracellular parasites, viruses exploit cellular proteins at every stage of infection. Adenovirus outbreaks are associated with severe acute respiratory illnesses and conjunctivitis, with no specific antiviral therapy available. An adenoviral vaccine based on human adenovirus species D (HAdV-D) is currently in use for COVID-19. Herein, we investigate host interactions of HAdV-D type 37 (HAdV-D37) protein IIIa (pIIIa), identified by affinity purification and mass spectrometry (AP-MS) screens. We demonstrate that viral pIIIa interacts with ubiquitin-specific protease 9x (USP9x) and Ran-binding protein 2 (RANBP2). USP9x binding did not invoke its signature deubiquitination function but rather deregulated pIIIa-RANBP2 interactions. In USP9x-knockout cells, viral genome replication and viral protein expression increased compared to wild type cells, supporting a host-favored mechanism for USP9x. Conversely, RANBP2-knock down reduced pIIIa transport to the nucleus, viral genome replication, and viral protein expression. Also, RANBP2-siRNA pretreated cells appeared to contain fewer mature viral particles. Transmission electron microscopy of USP9x-siRNA pretreated, virus-infected cells revealed larger than typical paracrystalline viral arrays. RANBP2-siRNA pretreatment led to the accumulation of defective assembly products at an early maturation stage. CRM1 nuclear export blockade by leptomycin B led to the retention of pIIIa within cell nuclei and hindered pIIIa-RANBP2 interactions. In-vitro binding analyses indicated that USP9x and RANBP2 bind to C-terminus of pIIIa amino acids 386–563 and 386–510, respectively. Surface plasmon resonance testing showed direct pIIIa interaction with recombinant USP9x and RANBP2 proteins, without competition. Using an alternative and genetically disparate adenovirus type (HAdV-C5), we show that the demonstrated pIIIa interaction is also important for a severe respiratory pathogen. Together, our results suggest that pIIIa hijacks RANBP2 for nuclear import and subsequent virion assembly. USP9x counteracts this interaction and negatively regulates virion synthesis. This analysis extends the scope of known adenovirus-host interactions and has potential implications in designing new antiviral therapeutics.     

莲的生态解剖学研究

莲叶有三种形式:沉水叶无气孔;浮水叶气孔仅分布于腹面;挺水叶形大、气孔数多。器官中气室和气道发达。排水器位于叶腹面的中央,除常敞开着外,与气孔相似,水分可从此排出。莲具有星散的维管束、无形成层,只在根中有导管,胚根简化,不定根发达。花早期发育在水中,后由柄生长延伸出水面。果实中具有三个功能不同的孔。果皮上的表皮层及栅状细胞层发达。     

草鱼(Ctenophar yngodon idellus)出血病与生态环境的关系

对一龄草鱼种培育池的水质数据采用生物统计法,以其单因子或多因子与草鱼病毒性出血病的关系进行分析比较。结果表明,出血病与某些生态因子密切相关。当水温逐渐升高时,溶氧和透明度的下降或总氮和有机氮等的升高,均易引起出血病的发生和流行。其中溶氧是诸因素中主要的发病因素,水温是发病的首要条件,其它理化因素也可成为发病因素;与水质密切相关的浮游生物量的升高或剧变对出血病有一定影响;底质含氮物高会引起水质恶化,继而导致发病。