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1.
Nano Lett ; 24(8): 2465-2472, 2024 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-38349857

RESUMEN

The rich morphology of 2D materials grown through chemical vapor deposition (CVD), is a distinctive feature. However, understanding the complex growth of 2D crystals under practical CVD conditions remains a challenge due to various intertwined factors. Real-time monitoring is crucial to providing essential data and enabling the use of advanced tools like machine learning for unraveling these complexities. In this study, we present a custom-built miniaturized CVD system capable of observing and recording 2D MoS2 crystal growth in real time. Image processing converts the real-time footage into digital data, and machine learning algorithms (ML) unveil the significant factors influencing growth. The machine learning model successfully predicts CVD growth parameters for synthesizing ultralarge monolayer MoS2 crystals. It also demonstrates the potential to reverse engineer CVD growth parameters by analyzing the as-grown 2D crystal morphology. This interdisciplinary approach can be integrated to enhance our understanding of controlled 2D crystal synthesis through CVD.

2.
Kidney Int ; 105(4): 775-790, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38286179

RESUMEN

Chronic kidney disease (CKD) is characterized by kidney inflammation and fibrosis. However, the precise mechanisms leading to kidney inflammation and fibrosis are poorly understood. Since histone deacetylase is involved in inflammation and fibrosis in other tissues, we examined the role of histone deacetylase 3 (HDAC3) in the regulation of inflammation and kidney fibrosis. HDAC3 is induced in the kidneys of animal models of CKD but mice with conditional HDAC3 deletion exhibit significantly reduced fibrosis in the kidneys compared with control mice. The expression of proinflammatory and profibrotic genes was significantly increased in the fibrotic kidneys of control mice, which was impaired in mice with HDAC3 deletion. Genetic deletion or pharmacological inhibition of HDAC3 reduced the expression of proinflammatory genes in cultured monocytes/macrophages. Mechanistically, HDAC3 deacetylates Lys122 of NF-κB p65 subunit turning on transcription. RGFP966, a selective HDAC3 inhibitor, reduced fibrosis in cells and in animal models by blocking NF-κB p65 binding to κB-containing DNA sequences. Thus, our study identified HDAC3 as a critical regulator of inflammation and fibrosis of the kidney through deacetylation of NF-κB unlocking its transcriptional activity. Hence, targeting HDAC3 could serve as a novel therapeutic strategy for CKD.


Asunto(s)
Histona Desacetilasas , Nefritis , Insuficiencia Renal Crónica , Animales , Ratones , Fibrosis , Inhibidores de Histona Desacetilasas/farmacología , Histona Desacetilasas/genética , Histona Desacetilasas/metabolismo , Inflamación/genética , Inflamación/patología , Riñón/patología , Nefritis/genética , Nefritis/patología , FN-kappa B/metabolismo , Insuficiencia Renal Crónica/genética , Insuficiencia Renal Crónica/patología
3.
Mol Ecol ; 32(18): 4999-5012, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37525516

RESUMEN

Genomic structural variations (SVs) are widespread in plant and animal genomes and play important roles in phenotypic novelty and species adaptation. Frequent whole genome duplications followed by (re)diploidizations have resulted in high diversity of genome architecture among extant species. In this study, we identified abundant genomic SVs in the Panax genus that are hypothesized to have occurred through during the repeated polyploidizations/(re)diploidizations. Our genome-wide comparisons demonstrated that although these polyploidization-derived SVs have evolved at distinct evolutionary stages, a large number of SV-intersecting genes showed enrichment in functionally important pathways related to secondary metabolites, photosynthesis and basic cellular activities. In line with these observations, our metabolic analyses of these Panax species revealed high diversity of primary and secondary metabolites both at the tissue and interspecific levels. In particular, genomic SVs identified at ginsenoside biosynthesis genes, including copy number variation and large fragment deletion, appear to have played important roles in the evolution and diversification of ginsenosides. A further herbivore deterrence experiment demonstrated that, as major triterpenoidal saponins found exclusively in Panax, ginsenosides provide protection against insect herbivores. Our study provides new insights on how polyploidization-derived SVs have contributed to phenotypic novelty and plant adaptation.


Asunto(s)
Ginsenósidos , Panax , Saponinas , Ginsenósidos/análisis , Ginsenósidos/química , Ginsenósidos/metabolismo , Panax/genética , Panax/química , Panax/metabolismo , Variaciones en el Número de Copia de ADN , Saponinas/química , Saponinas/genética , Saponinas/metabolismo , Adaptación Fisiológica
4.
Mol Phylogenet Evol ; 188: 107908, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37598984

RESUMEN

The continental-shelf islands of the Aegean Sea provide an ideal geographical setting for evolutionary-biogeographical studies but disentangling the relationships between palaeogeographical history and the times, orders of modes of taxon divergence is not straightforward. Here, we used phylogenomic and population genomic approaches, based on orthologous gene sequences and transcriptome-derived SNP data, to reconstruct the spatial-temporal evolution of the Aegean Nigella arvensis complex (Ranunculaceae; 11 out of 12 taxa). The group's early diversification in the Early/Mid-Pliocene (c. 3.77 Mya) resulted in three main lineages (Greek mainland vs. central Aegean + Turkish mainland/eastern Aegean islands), while all extant taxa are of Late Plio-/Early Pleistocene origin (c. 3.30-1.59 Mya). Demographic modelling of the outcrossing taxa uncovered disparate modes of (sub)speciation, including divergence with gene flow on the Greek mainland, para- or peripatric diversification across eastern Aegean islands, and a 'mixing-isolation-mixing (MIM)' mode of subspeciation in the Cyclades. The two selfing species (N. stricta, N. doerfleri) evolved independently from the outcrossers. Present-day island configurations are clearly insufficient to explain the spatial-temporal history of lineage diversification and modes of (sub)speciation in Aegean Nigella. Moreover, our identification of positively selected genes in almost all taxa calls into question that this plant group represents a case of 'non-adaptive' radiation. Our study revealed an episodic diversification history of the N. arvensis complex, giving new insight into the modes and drivers of island speciation and adaption across multiple spatiotemporal scales.


Asunto(s)
Nigella , Ranunculaceae , Filogenia , Metagenómica , Genómica
5.
Mol Phylogenet Evol ; 186: 107842, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37321361

RESUMEN

Distinct hosts have been hypothesized to possess the potential for affecting species differentiation and genome evolution of parasitic organisms. However, what host shift history is experienced by the closely related parasites and whether disparate evolution of their genomes occur remain largely unknown. Here, we screened horizontal gene transfer (HGT) events in a pair of sister species of holoparasitic Boschniakia (Orobanchaceae) having obligate hosts from distinct families to recall the former host-parasite associations and performed a comparative analysis to investigate the difference of their organelle genomes. Except those from the current hosts (Ericaceae and Betulaceae), we identified a number of HGTs from Rosaceae supporting the occurrence of unexpected ancient host shifts. Different hosts transfer functional genes which changed nuclear genomes of this sister species. Likewise, different donors transferred sequences to their mitogenomes, which vary in size due to foreign and repetitive elements rather than other factors found in other parasites. The plastomes are both severely reduced, and the degree of difference in reduction syndrome reaches the intergeneric level. Our findings provide new insights into the genome evolution of parasites adapting to different hosts and extend the mechanism of host shift promoting species differentiation to parasitic plant lineages.


Asunto(s)
Genoma de Plastidios , Orobanchaceae , Humanos , Filogenia , Orobanchaceae/genética , Genes de Plantas , Secuencias Repetitivas de Ácidos Nucleicos , Transferencia de Gen Horizontal
6.
Am J Obstet Gynecol ; 229(3): 302.e1-302.e18, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36907537

RESUMEN

BACKGROUND: Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants and children with suspected genetic diseases. However, the application and evaluation of whole genome sequencing in prenatal diagnosis remain limited. OBJECTIVE: This study aimed to evaluate the accuracy, efficacy, and incremental yield of whole genome sequencing in comparison with chromosomal microarray analysis for routine prenatal diagnosis. STUDY DESIGN: In this prospective study, a total of 185 unselected singleton fetuses with ultrasound-detected structural anomalies were enrolled. In parallel, each sample was subjected to whole genome sequencing and chromosomal microarray analysis. Aneuploidies and copy number variations were detected and analyzed in a blinded fashion. Single nucleotide variations and insertions and deletions were confirmed by Sanger sequencing, and trinucleotide repeats expansion variants were verified using polymerase chain reaction plus fragment-length analysis. RESULTS: Overall, genetic diagnoses using whole genome sequencing were obtained for 28 (15.1%) cases. Whole genome sequencing not only detected all these aneuploidies and copy number variations in the 20 (10.8%) diagnosed cases identified by chromosomal microarray analysis, but also detected 1 case with an exonic deletion of COL4A2 and 7 (3.8%) cases with single nucleotide variations or insertions and deletions. In addition, 3 incidental findings were detected including an expansion of the trinucleotide repeat in ATXN3, a splice-sites variant in ATRX, and an ANXA11 missense mutation in a case of trisomy 21. CONCLUSION: Compared with chromosomal microarray analysis, whole genome sequencing increased the additional detection rate by 5.9% (11/185). Using whole genome sequencing, we detected not only aneuploidies and copy number variations, but also single nucleotide variations and insertions and deletions, trinucleotide repeat expansions, and exonic copy number variations with high accuracy in an acceptable turnaround time (3-4 weeks). Our results suggest that whole genome sequencing has the potential to be a new promising prenatal diagnostic test for fetal structural anomalies.


Asunto(s)
Variaciones en el Número de Copia de ADN , Ultrasonografía Prenatal , Embarazo , Femenino , Lactante , Niño , Humanos , Estudios Prospectivos , Primer Trimestre del Embarazo , Diagnóstico Prenatal/métodos , Aneuploidia , Secuenciación Completa del Genoma , Análisis por Micromatrices , Aberraciones Cromosómicas
7.
J Genet Couns ; 32(4): 823-832, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-36775845

RESUMEN

Spinal muscular atrophy (SMA) is an autosomal recessive and often fatal neurological disease. However, very little is known about the attitudes toward SMA carrier screening among Chinese pregnant people. In this study, pregnant women in Eastern China who were undergoing routine chromosomal screening programs were invited to view an educational video about SMA and complete a 26-item survey regarding their attitudes toward SMA screening by scanning a specific quick response code. A total of 1673 questionnaires were collected, and 81.1% of respondents were willing to undergo self-funded screening. If the screening program were included in the medical insurance, 97.8% of respondents were willing to accept screening. The important reasons for supporting SMA screening were a belief that it could help them make better reproductive decisions and avoid having a child with SMA. The key reason for declining SMA screening was not having a family history of genetic diseases. A higher score for SMA genetics knowledge was associated with a greater willingness to undergo SMA screening. We concluded that pregnant women in Eastern China had positive attitudes toward SMA carrier screening. Improving genetic knowledge and including the screening program in medical insurance would support the widespread implementation of SMA carrier screening. Steps should be taken to offer SMA carrier screening along with pre- and posttest education and genetic counseling to raise awareness and reduce misconceptions regarding SMA.


Asunto(s)
Atrofia Muscular Espinal , Mujeres Embarazadas , Niño , Humanos , Femenino , Embarazo , Asesoramiento Genético , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/psicología , China , Conocimientos, Actitudes y Práctica en Salud , Tamización de Portadores Genéticos
8.
Zhongguo Zhong Yao Za Zhi ; 48(10): 2810-2819, 2023 May.
Artículo en Zh | MEDLINE | ID: mdl-37282941

RESUMEN

Via network pharmacology, molecular docking, and cellular experiment, this study explored and validated the potential molecular mechanism of ginsenoside Rg_1(Rg_1) against radiation enteritis. Targets of Rg_1 and radiation enteritis were retrieved from BATMAN-TCM, SwissTargetPrediction, and GeneCards. Cytoscape 3.7.2 and STRING were employed for the construction of protein-protein interaction(PPI) network for the common targets, and screening of core targets. DAVID was used for Gene Ontology(GO) term and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway enrichment to predict the possible mechanism, followed by molecular docking of Rg_1 with core targets and cellular experiment. For the cellular experiment, ~(60)Co-γ irradiation was performed for mo-deling of IEC-6 cells, which were then treated with Rg_1, protein kinase B(AKT) inhibitor LY294002, and other drugs to verify the effect and mechanism of Rg_1. The results showed that 29 potential targets of Rg_1, 4 941 disease targets, and 25 common targets were screened out. According to the PPI network, the core targets were AKT1, vascular endothelial growth factor A(VEGFA), heat shock protein 90 alpha family class A member 1(HSP90AA1), Bcl-2-like protein 1(BCL2L1), estrogen receptor 1(ESR1), etc. The common targets were mainly involved in the GO terms such as positive regulation of RNA polymerase Ⅱ promoter transcription, signal transduction, positive regulation of cell proliferation, and other biological processes. The top 10 KEGG pathways included phosphoinositide 3-kinase(PI3K)/AKT pathway, RAS pathway, mitogen-activated protein kinase(MAPK) pathway, Ras-proximate-1(RAP1) pathway, and calcium pathway, etc. Molecular docking showed that Rg_1 had high binding affinity to AKT1, VEGFA, HSP90AA1, and other core targets. Cellular experiment indicated that Rg_1 can effectively improve cell viability and survival, decrease apoptosis after irradiation, promote the expression of AKT1 and B-cell lymphoma-extra large(BCL-XL), and inhibit the expression of the pro-apoptotic protein Bcl-2-associated X protein(BAX). In conclusion, through network pharmacology, molecular docking, and cellular experiment, this study verified the ability of Rg_1 to reduce radiation enteritis injury. The mechanism was that it regulated PI3K/AKT pathway, thereby suppressing apoptosis.


Asunto(s)
Medicamentos Herbarios Chinos , Ginsenósidos , Traumatismos por Radiación , Humanos , Proteínas Proto-Oncogénicas c-akt/genética , Farmacología en Red , Ginsenósidos/farmacología , Fosfatidilinositol 3-Quinasas/genética , Factor A de Crecimiento Endotelial Vascular , Simulación del Acoplamiento Molecular , Medicamentos Herbarios Chinos/farmacología
9.
BMC Plant Biol ; 22(1): 444, 2022 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-36114450

RESUMEN

BACKGROUND: Orobanchaceae is the only flowering plant family with species from free-living nonparasite, hemi-parasite to holoparasite, making it an ideal system for studying the evolution of parasitism. However, both plastid and mitochondrial genome have been sequenced in only few parasitic species in Orobanchaceae. Therefore, further comparative study is wanted to investigate the impact of holoparasitism on organelle genomes evolution between close relatives. Here, we sequenced organelle genomes and transcriptome of holoparasitic Christisonia kwangtungensis and compared it with its closely related groups to analyze similarities and differences in adaption strategies to the holoparasitic lifestyle. RESULTS: The plastid genome of C. kwangtungensis has undergone extensive pseudogenization and gene loss, but its reduction pattern is different from that of Aeginetia indica, the close relative of C. kwangtungensis. Similarly, the gene expression detected in the photosynthetic pathway of these two genera is different. In Orobanchaceae, holoparasites in Buchnereae have more plastid gene loss than Rhinantheae, which reflects their longer history of holoparasitism. Distinct from severe degradation of the plastome, protein-coding genes in the mitochondrial genome of C. kwangtungensis are relatively conserved. Interestingly, besides intracellularly transferred genes which are still retained in its plastid genome, we also found several horizontally transferred genes of plastid origin from diverse donors other than their current hosts in the mitochondrial genome, which probably indicate historical hosts. CONCLUSION: Even though C. kwangtungensis and A. indica are closely related and share severe degradation of plastome, they adapt organelle genomes to the parasitic lifestyle in different ways. The difference between their gene loss and gene expression shows they ultimately lost photosynthetic genes but through different pathways. Our study exemplifies how parasites part company after achieving holoparasitism.


Asunto(s)
Genoma Mitocondrial , Genoma de Plastidios , Orobanchaceae , Genoma Mitocondrial/genética , Genoma de Plastidios/genética , Orobanchaceae/genética , Plastidios/genética , Análisis de Secuencia de ADN
10.
Ann Bot ; 129(2): 185-200, 2022 01 28.
Artículo en Inglés | MEDLINE | ID: mdl-34718397

RESUMEN

BACKGROUND AND AIMS: Many plant taxa in the Qinghai-Tibetan Plateau (QTP) and the Hengduan Mountains (HM) radiated rapidly during the Quaternary but with frequent secondary contact between diverging populations. Incomplete lineage sorting and introgressive hybridization might be involved during the rapid radiation, but their effects on phylogeography have not been fully determined. METHODS: We investigated the chloroplast DNA (cpDNA)/internal transcribed spacer (ITS) sequence variations of 611 samples of Rhodiola bupleuroides, R. discolor, R. fastigiata and R. chrysanthemifolia from the QTP and HM to compare the phylogeographic patterns between the four species with different evolutionary histories, geographic ranges and reproductive modes. KEY RESULTS: The divergence times of these species were consistent with the last peak of in situ speciation in the HM. While closely related species exhibited different phylogeographic patterns, they shared several ribotypes and haplotypes in sympatric populations, suggesting introgressive hybridization. A significant phylogenetic discordance between ribotypes and haplotypes was detected in three species, implying incomplete lineage sorting. Rhodiola discolor houses an extraordinary richness of cpDNA haplotypes, and this finding may be attributed to adaptive radiation. CONCLUSION: In addition to geographic isolation and climate oscillations during the Quaternary, both introgressive hybridization and incomplete lineage sorting play important roles in species that experienced rapid diversification in the QTP and HM.


Asunto(s)
Rhodiola , ADN de Cloroplastos/genética , Variación Genética , Haplotipos/genética , Filogenia , Filogeografía , Rhodiola/genética , Análisis de Secuencia de ADN
11.
Ann Bot ; 130(5): 749-762, 2022 11 17.
Artículo en Inglés | MEDLINE | ID: mdl-35961674

RESUMEN

BACKGROUND AND AIMS: Elucidating how plant species respond to variable light conditions is important to understand the ecological adaptation to heterogeneous natural habitats. Plant performance and its underlying gene regulatory network have been well documented in sun-grown plants. However, the phenotypic and molecular responses of shade-grown plants under variable light conditions have remained largely unclear. METHODS: We assessed the differences in phenotypic performance between Panax ginseng (shade-grown) and Arabidopsis thaliana (sun-grown) under sunlight, shade and deep-shade conditions. To further address the molecular bases underpinning the phenotypic responses, we compared time-course transcriptomic expression profiling and candidate gene structures between the two species. KEY RESULTS: Our results show that, compared with arabidopsis, ginseng plants not only possess a lower degree of phenotypic plasticity among the three light conditions, but also exhibit higher photosynthetic efficiency under shade and deep-shade conditions. Further comparisons of the gene expression and structure reveal that differential transcriptional regulation together with increased copy number of photosynthesis-related genes (e.g. electron transfer and carbon fixation) may improve the photosynthetic efficiency of ginseng plants under the two shade conditions. In contrast, the inactivation of phytochrome-interacting factors (i.e. absent and no upregulation of the PIF genes) are potentially associated with the observed low degree of phenotypic plasticity of ginseng plants under variable light conditions. CONCLUSIONS: Our study provides new insights into how shade-grown plants respond to variable light conditions. Candidate genes related to shade adaptation in ginseng provide valuable genetic resources for future molecular breeding of high-density planting crops.


Asunto(s)
Arabidopsis , Panax , Panax/genética , Panax/metabolismo , Transcriptoma , Luz , Arabidopsis/genética , Fotosíntesis/genética
12.
J Clin Lab Anal ; 36(12): e24786, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36441600

RESUMEN

BACKGROUND: Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra-rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (SUMF1) gene. METHODS: Herein, we report an eight-year-old boy with a late infantile form of multiple sulfatase deficiency. A combination of copy-number variation sequencing (CNV-seq) and whole-exome sequencing (WES) were used to analyze the genetic cause for the MSD patient. RESULTS: Our results, previously not seen in China, show a novel compound heterozygous mutation with one allele containing a 240.55 kb microdeletion on 3p26.1 encompassing the SETMAR gene and exons 4-9 of the SUMF1 gene, and the other allele containing a novel missense mutation of c.671G>A (p.Arg224Gln) in the SUMF1 gene. Both were inherited from the proband's unaffected parents, one from each. Bioinformatics analyses show the novel variation to be "likely pathogenic." SWISS-MODEL analysis shows that the missense mutation may alter the three-dimensional (3D) structure. CONCLUSIONS: In summary, this study reported a novel compound heterozygous with microdeletion in SUMF1 gene, which has not been reported in China. The complex clinical manifestations of MSD may delay diagnosis; however, molecular genetic analysis of the SUMF1 gene can be performed to help obtain an early diagnosis.


Asunto(s)
Enfermedad por Deficiencia de Múltiples Sulfatasas , Masculino , Humanos , Niño , Enfermedad por Deficiencia de Múltiples Sulfatasas/genética , Enfermedad por Deficiencia de Múltiples Sulfatasas/diagnóstico , Sulfatasas/genética , Mutación/genética , Mutación Missense , Biología Computacional , N-Metiltransferasa de Histona-Lisina/genética , Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro/genética
13.
J Am Soc Nephrol ; 32(4): 795-803, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33526471

RESUMEN

BACKGROUND: There is an urgent need for approaches to prevent and treat SARS-CoV-2 infection. Administration of soluble ACE2 protein acting as a decoy to bind to SARS-CoV-2 should limit viral uptake mediated by binding to membrane-bound full-length ACE2, and further therapeutic benefit should result from ensuring enzymatic ACE2 activity to affected organs in patients with COVID-19. METHODS: A short variant of human soluble ACE2 protein consisting of 618 amino acids (hACE2 1-618) was generated and fused with an albumin binding domain (ABD) using an artificial gene encoding ABDCon, with improved albumin binding affinity. Human kidney organoids were used for infectivity studies of SARS-CoV-2 in a BSL-3 facility to examine the neutralizing effect of these novel ACE2 variants. RESULTS: Whereas plasma ACE2 activity of the naked ACE2 1-618 and ACE2 1-740 lasted about 8 hours, the ACE2 1-618-ABD resulted in substantial activity at 96 hours, and it was still biologically active 3 days after injection. Human kidney organoids express ACE2 and TMPRSS2, and when infected with SARS-CoV-2, our modified long-acting ACE2 variant neutralized infection. CONCLUSIONS: This novel ACE2 1-618-ABD can neutralize SARS-CoV-2 infectivity in human kidney organoids, and its prolonged duration of action should ensure improved efficacy to prevent viral escape and dosing convenience.

14.
Sensors (Basel) ; 23(1)2022 Dec 30.
Artículo en Inglés | MEDLINE | ID: mdl-36617003

RESUMEN

A production status monitoring method based on edge computing is proposed for traditional machining offline equipment to address the deficiencies that traditional machining offline equipment have, which cannot automatically count the number of parts produced, obtain part processing time information, and discern anomalous operation status. Firstly, the total current signal of the collected equipment was filtered to extract the processing segment data. The processing segment data were then used to manually calibrate the feature vector of the equipment for specific parts and processes, and the feature vector was used as a reference to match with the real-time electric current data on the edge device to identify and obtain the processing start time, processing end time, and anomalous marks for each part. Finally, the information was uploaded to further obtain the part processing time, loading and unloading standby time, and the cause of the anomaly. To verify the reliability of the method, a prototype system was built, and extensive experiments were conducted on many different types of equipment in an auto parts manufacturer. The experimental results show that the proposed monitoring algorithm based on the calibration vector can stably and effectively identify the production information of each part on an independently developed edge device.


Asunto(s)
Algoritmos , Reproducibilidad de los Resultados
15.
Yi Chuan ; 44(7): 618-628, 2022 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-35858773

RESUMEN

Spinal muscular atrophy (SMA) is an autosomal recessive, fatal neurological disorder in children. The pathogenic gene of SMA is survival motor neuron1 (SMN1). There are many methods to detect SMN1 gene copy number, but few techniques are suitable for large-scale population screening. In order to find a rapid and accurate experimental technique for mass screening of SMA carriers in the population, the SMN1 gene copy number of 12 SMA patients and their parents was analyzed by multiplex competitive PCR combined with capillary electrophoresis. Meanwhile, the copy number of SMN1 gene in 151 healthy pregnant women in Jiangsu was screened with the MLPA technology to confirm their copy number of the SMN genes. The results showed that the 12 SMA patients had 0 copy of SMN1 gene, and all their parents had 1 copy of SMN1 gene only. Among 151 healthy subjects, 3 cases (2.0%) had 1 copy of SMN1 gene, and hence designated as SMA carriers. One hundred and thirty-four cases (88.7%) had 2 copies of the SMN1 gene. There were 14 cases (9.3%) with more than 2 copies of the SMN1 gene. Therefore, multiplex competitive PCR combined with capillary electrophoresis is a rapid, simple and accurate method for the detection of SMA carriers; and potentially applicable to mass screening of SMA carriers in the population.


Asunto(s)
Atrofia Muscular Espinal , Niño , Electroforesis Capilar , Femenino , Dosificación de Gen , Humanos , Tamizaje Masivo , Reacción en Cadena de la Polimerasa Multiplex/métodos , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Embarazo
16.
Ann Bot ; 127(1): 63-73, 2021 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-32939535

RESUMEN

BACKGROUND AND AIMS: The ribosomal DNA (rDNA) gene family, encoding ribosomal RNA (rRNA), has long been regarded as an archetypal example illustrating the model of concerted evolution. However, controversy is arising, as rDNA in many eukaryotic species has been proved to be polymorphic. Here, a metagenomic strategy was applied to detect the intragenomic polymorphism as well as the evolutionary patterns of 26S rDNA across the genus Camellia. METHODS: Degenerate primer pairs were designed to amplify the 26S rDNA fragments from different Camellia species. The amplicons were then paired-end sequenced on the Illumina MiSeq platform. KEY RESULTS: An extremely high level of rDNA polymorphism existed universally in Camellia. However, functional rDNA was still the major component of the family, and was relatively conserved among different Camellia species. Sequence variations mainly came from rRNA pseudogenes and favoured regions that are rich in GC. Specifically, some rRNA pseudogenes have existed in the genome for a long time, and have even experienced several expansion events, which has greatly enriched the abundance of rDNA polymorphism. CONCLUSIONS: Camellia represents a group in which rDNA is subjected to a mixture of concerted and birth-and-death evolution. Some rRNA pseudogenes may still have potential functions. Conversely, when released from selection constraint, they can evolve in the direction of decreasing GC content and structural stability through a methylation-induced process, and finally be eliminated from the genome.


Asunto(s)
Camellia , Evolución Molecular , ADN Ribosómico , Filogenia , Seudogenes , ARN Ribosómico
17.
Br J Neurosurg ; 35(1): 1-6, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31992088

RESUMEN

OBJECTIVE: Patients with subdural hygroma (SDG) are at increased risk of developing chronic subdural hematoma (CSDH). However, the factors that increase the risk of conversion are not fully understood. This study was to assess the risk factors of SDG conversion to CSDH. METHODS: We reviewed the literature and retrospectively studied a series of cases in which CSDH was preceded by SDG to understand the natural history. We reviewed 45 cases of SDG from our hospital between 2015 and 2018. The cases were divided into two groups according to whether SDG converted into CSDH. Data were collected clinical presentation, imaging findings et al. Univariate and multivariate logistic regression analyses were performed to identify factors associated with SDG conversion. RESULTS: Univariate analysis showed that the SDG thickness (p = .009), SDG location (p = .026), and bilateral SDG (p = .042) were significantly associated with CSDH development. Multivariate analysis revealed that SDG thickness (odds ratio, 1.6; 95% confidence interval, 1.111-2.324; p = .012) and bilateral SDG (odds ratio, 27.6; 95% confidence interval 2.889-263.548; p = .004) were independent risk factors for SDG development. Receiver operating characteristic curve analysis revealed that SDG thickness was a significant variable for predicting SDG development. A thickness >11.37 mm was an appropriate cutoff value, and the possibility of SDG conversion had a sensitivity 50.0% and specificity of 87.0%. CONCLUSIONS: Bilateral SDG and SDG thickness were independent risk factors for SDG progression into CSDH. An SDG thickness >11.37 mm had a high risk of SDG conversion.


Asunto(s)
Hematoma Subdural Crónico , Efusión Subdural , Progresión de la Enfermedad , Hematoma Subdural Crónico/diagnóstico por imagen , Hematoma Subdural Crónico/epidemiología , Hematoma Subdural Crónico/etiología , Humanos , Estudios Retrospectivos , Factores de Riesgo
18.
J Environ Sci (China) ; 103: 207-218, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33743903

RESUMEN

Accelerating the (NH4)2SO3 oxidation gives rise to the reclaiming of byproduct, while there are secondary environmental risks from reduction of the coexisted selenium species by sulfite. In this study, a bi-functional Co-SBA-15-SH, were synthesized through Co impregnation and sulfhydryl (-SH) decoration, which can simultaneously uptake Se and accelerate sulfite oxidation efficiently. Meanwhile, the adsorption kinetics and migration mechanism of Se species were revealed through characterization and density functional calculations, with maximum adsorption capacity of 223 mg/g. The inhibition of Se0 re-emission and poisonous effect of Se on sulfite oxidation was also investigated. Using the findings of this study, the ammonia desulfurization can be improved by enabling purification of the byproduct and lowering the toxicity of effluent by removing toxic pollutants.


Asunto(s)
Amoníaco , Selenio , Catálisis , Oxidación-Reducción , Sulfitos
19.
J Exp Bot ; 71(3): 877-892, 2020 01 23.
Artículo en Inglés | MEDLINE | ID: mdl-31639183

RESUMEN

The plastid genomes (plastomes) of non-photosynthetic plants generally undergo gene loss and pseudogenization. Despite massive plastomes reported in different parasitism types of the broomrape family (Orobanchaceae), more plastomes representing different degradation patterns in a single genus are expected to be explored. Here, we sequence and assemble the complete plastomes of three holoparasitic Cistanche species (C. salsa, C. mongolica, and C. sinensis) and compare them with the available plastomes of Orobanchaceae. We identified that the diverse degradation trajectories under purifying selection existed among three Cistanche clades, showing obvious size differences in the entire plastome, long single copy region, and non-coding region, and different patterns of the retention/loss of functional genes. With few exceptions of putatively functional genes, massive plastid fragments, which have been lost and transferred into the mitochondrial or nuclear genomes, are non-functional. In contrast to the equivalents of the Orobanche species, some plastid-derived genes with diverse genomic locations are found in Cistanche. The early and initially diverged clades in different genera such as Cistanche and Aphyllon possess obvious patterns of plastome degradation, suggesting that such key lineages should be considered prior to comparative analysis of plastome evolution, especially in the same genus.


Asunto(s)
Evolución Biológica , Cistanche/genética , Genoma de Planta , Genoma de Plastidios
20.
BMC Genomics ; 20(1): 828, 2019 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-31703692

RESUMEN

BACKGROUND: The merging of two divergent genomes during hybridization can result in the remodeling of parental gene expression in hybrids. A molecular basis underling expression change in hybrid is regulatory divergence, which may change with the parental genetic divergence. However, there still no unanimous conclusion for this hypothesis. RESULTS: Three species of Camellia with a range of genetic divergence and their F1 hybrids were used to study the effect of parental genetic divergence on gene expression and regulatory patterns in hybrids by RNA-sequencing and allelic expression analysis. We found that though the proportion of differentially expressed genes (DEGs) between the hybrids and their parents did not increase, a greater proportion of DEGs would be non-additively (especially transgressively) expressed in the hybrids as genomes between the parents become more divergent. In addition, the proportion of genes with significant evidence of cis-regulatory divergence increased, whereas with trans-regulatory divergence decreased with parental genetic divergence. CONCLUSIONS: The discordance within hybrid would intensify as the parents become more divergent, manifesting as more DEGs would be non-additively expressed. Trans-regulatory divergence contributed more to the additively inherited genes than cis, however, its contribution to expression difference would be weakened as cis mutations accumulated over time; and this might be an important reason for that the more divergent the parents are, the greater proportion of DEGs would be non-additively expressed in hybrid.


Asunto(s)
Camellia/genética , Perfilación de la Expresión Génica , Variación Genética , Hibridación Genética , Alelos , Genómica
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