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MicroRNAs (miRNAs) are widely involved in various biological processes of plants and contribute to plant resistance against various pathogens. In this study, upon sugarcane mosaic virus (SCMV) infection, the accumulation of maize (Zea mays) miR398b (ZmmiR398b) was significantly reduced in resistant inbred line Chang7‐2, while it was increased in susceptible inbred line Mo17. Degradome sequencing analysis coupled with transient co‐expression assays revealed that ZmmiR398b can target Cu/Zn‐superoxidase dismutase2 (ZmCSD2), ZmCSD4, and ZmCSD9 in vivo, of which the expression levels were all upregulated by SCMV infection in Chang7‐2 and Mo17. Moreover, overexpressing ZmmiR398b (OE398b) exhibited increased susceptibility to SCMV infection, probably by increasing reactive oxygen species (ROS) accumulation, which were consistent with ZmCSD2/4/9‐silenced maize plants. By contrast, silencing ZmmiR398b (STTM398b) through short tandem target mimic (STTM) technology enhanced maize resistance to SCMV infection and decreased ROS levels. Interestingly, copper (Cu)‐gradient hydroponic experiments demonstrated that Cu deficiency promoted SCMV infection while Cu sufficiency inhibited SCMV infection by regulating accumulations of ZmmiR398b and ZmCSD2/4/9 in maize. These results revealed that manipulating the ZmmiR398b‐ZmCSD2/4/9‐ROS module provides a prospective strategy for developing SCMV‐tolerant maize varieties. [ABSTRACT FROM AUTHOR]

BACKGROUNDS: Pesticides have been widely applied to promote plant growth due to their high insecticidal efficiency. However, most pesticides easily slip from the leaf surface due to the low foliar adhesion, leading to significant damage to the environment and human health. Increasing foliar adhesion of pesticides has been a major challenge. Nanomaterial technology, which can deliver pesticide active ingredients, offers a new opportunity to increase pesticides efficacy with higher foliar adhesion. RESULTS: In this study, we prepared the pesticide loaded nanohydrogel ALP@Ge‐g‐P(AA‐co‐AM)/ATP by grafting attapulgite and gelatin onto P(AA‐co‐AM), and loading the pesticide alphacypermethrin synchronously via the emulsion solvent evaporation method. The size of the new nanohydrogel was 20.5 nm and the pesticide loading capacity was 21.5%. Compared to P(AA‐co‐AM), the water absorbency of Ge‐g‐P(AA‐co‐AM)/ATP increased by 54.3% in 120 min, while the water retention increased from 4.27% to 38.7% after 48 h. Washout experiments and contact angle results suggested that the nanohydrogel, with a contact angle of 44.8° indicating good wettability, can resist rain flush and increase foliar adhesion naturally. CONCLUSIONS: Overall, the preparation of pesticide loaded nanohydrogel is simple. Experiments demonstrated the pesticide loaded nanohydrogel has high efficiency and strong foliar adhesion. This makes it a promising candidate for spraying application and reducing pollution levels. © 2024 Society of Chemical Industry. [ABSTRACT FROM AUTHOR]

In the present work, the herb (Poria cocos (Schw.) Wolf) residue, as an environmentally friendly and renewable biomass source, was converted into novel biochar. Biochar/sodium alginate mixed matrix membrane was fabricated. On this basis, a biochar/sodium alginate mixed matrix membrane‐based in‐syringe solid‐phase extraction was developed combined with ultra‐high performance liquid chromatography‐tandem mass spectrometry to determine nitroimidazoles in water samples. The factors including times of exaction, type, and volume of elution solvent, and sample solution pH were thoroughly optimized. Then the correlation coefficient was 0.9995–0.9997. The limit of detection of four analytes was between 0.006 and 0.014 ng/mL, and the recovery was between 79.02% and 99.1%. Consequently, the established method would provide a new perspective on monitoring nitroimidazoles in water samples. [ABSTRACT FROM AUTHOR]

This article explores the origin and evolution of the Y chromosome in kiwifruit. The sex determination of kiwifruit is genetically controlled by an XY system, and two Y-linked sex-determining genes, Shy Girl (SyGl) and Friendly Boy (FrBy), have been identified. The study examines the structural reorganization of the kiwifruit Y chromosome and identifies the sex-determining region (SDR) on chromosome 25 in A. chinensis and chromosome 12 in A. eriantha. The research also investigates the genomic diversity and evolutionary trajectories of the Y chromosome in kiwifruit. [Extracted from the article]

The recovery of critical metals from spent lithium‐ion batteries (LIBs) is important to sustainable development and environment protection. In this paper, sec‐octylphenoxyacetic acid (CA‐12) was first used to recover valuable metals in LIBs. The effects of phase modifier, initial feed pH, extraction kinetics and thermodynamics, CA‐12 concentration and saponification degree were studied and optimized. Under the optimal conditions, 99 % of nickel, cobalt and manganese were co‐extracted to the organic phase, and the loss of lithium was 7 %. The extracted metal ions could be stripped with 0.04 mol/L HCl equivalently. In the spent LIBs powder leaching experiment, leaching efficiencies of all components were greater than 95 %. In the impurity removal stage, extractant N902 was used to remove copper, while iron and aluminum were eliminated by hydrolysis. After two‐stage extraction, the total extraction efficiencies of nickel, cobalt and manganese reached 99.7 %, 99.4 %, 98.45 %, respectively. Finally, lithium in the raffinate was precipitated by saturated Na2CO3, the purity of recovered Li2CO3 was up to 97.7 %. After 5 times cycles, CA‐12 still maintained excellent extraction capacity, showing its potential application prospects for recovering critical metals form spent LIBs. [ABSTRACT FROM AUTHOR]

Vesicles, also known as "microparticles", are vesicle‐like structures that are released outside the cell in a "sprouting" manner when the cytoskeleton is changed during cell activation or apoptosis, with a diameter of about 100–1000 nm, and are carriers of material information exchange between cells. Tumor‐derived extracellular vesicles can effectively deliver drugs to the nucleus of tumor stem cells, thus effectively killing them without toxic side effects. The underlying mechanism involves the soft nature of tumor stem cells that allows better uptake of vesicles, and the entry of drug‐carrying vesicles into lysosomes and facilitation of lysosomal movement toward the nucleus to deliver drugs to the nucleus. Drug‐loaded vesicles have unique advantages, such as low immunogenicity, homing targeting ability, and the ability to break through the physiological barrier to tumor therapy. Tumor‐derived drug‐delivery vesicles have entered clinical trials for the treatment of malignant pleural effusions. In this review, we summarized the progress of basic and clinical research on tumor cell‐derived drug‐loaded vesicles for the treatment of malignant pleural effusion in recent years. [ABSTRACT FROM AUTHOR]

Aims: Stroke has a high incidence and is a disabling condition that can lead to severe cognitive, motor, and sensory dysfunction. In this study, we employed a drug repurposing strategy to investigate the neuroprotective effect of lomitapide on focal ischemic brain injury and explore its potential mechanism of action. Methods: Experimental cerebral ischemia was induced by middle cerebral artery occlusion (MCAO) in adult male C57BL/6 mice and simulated by oxygen–glucose deprivation in N2a‐BV2 cells in co‐cultivation. Results: Lomitapide significantly increased the survival rate, reduced the neuronal tissue loss, and improved the neurological function after MCAO. Furthermore, lomitapide could increase the expression of LC3‐II, reduce the expression of P62 and LAMP2, promote autophagic flux, and inhibit apoptosis by increasing and inhibiting the expression of the apoptosis‐associated proteins Bcl‐2 and Bax, respectively. In addition, lomitapide inhibited the migration of pro‐inflammatory microglia. Conclusion: Lomitapide is a lipid‐lowering drug, and this is the first study to explore its protective effect on ischemic nerve injury in vitro and in vivo. Our results suggest that lomitapide can be repositioned as a potential therapeutic drug for the treatment of stroke. [ABSTRACT FROM AUTHOR]

The mammalian Y chromosome offers a unique perspective on the male reproduction and paternal evolutionary histories. However, further understanding of the Y chromosome biology for most mammals is hindered by the lack of a Y chromosome assembly. This study presents an integrated in silico strategy for identifying and assembling the goat Y‐linked scaffolds using existing data. A total of 11.5 Mb Y‐linked sequences were clustered into 33 scaffolds, and 187 protein‐coding genes were annotated. We also identified high abundance of repetitive elements. A 5.84 Mb subset was further ordered into an assembly with the evidence from the goat radiation hybrid map (RH map). The existing whole‐genome resequencing data of 96 goats (worldwide distribution) were utilized to exploit the paternal relationships among bezoars and domestic goats. Goat paternal lineages were clearly divided into two clades (Y1 and Y2), predating the goat domestication. Demographic history analyses indicated that maternal lineages experienced a bottleneck effect around 2,000 YBP (years before present), after which goats belonging to the A haplogroup spread worldwide from the Near East. As opposed to this, paternal lineages experienced a population decline around the 10,000 YBP. The evidence from the Y chromosome suggests that male goats were not affected by the A haplogroup worldwide transmission, which implies sexually unbalanced contribution to the goat trade and population expansion in post‐Neolithic period. [ABSTRACT FROM AUTHOR]

Objective: The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of de novo and paternally derived mutations.Methods: A total of 68 pregnancies, including 26 normal pregnancies, 7 cases with fetal aneuploidies, 7 cases with fetal achondroplasia or thanatophoric dysplasia, 18 cases with fetal skeletal abnormalities, and 10 cases with β-thalassemia high risk were recruited. Plasma cell-free DNA was amplified by Targeted And Genome-wide simultaneous sequencing (TAGs-seq) to generate around 99% of total reads covering the whole-genome region and around 1%  covering the target genes. The reads on the whole-genome region were analyzed for fetal aneuploidy using a binary hypothesis T-score and the reads on target genes were analyzed for point mutations by calculating the minor allelic frequency of loci on FGFR3 and HBB. TAGs-seq results were compared with conventional NIPT and diagnostic results.Results: In each sample, TAGs-seq generated 44.7-54 million sequencing reads covering the whole-genome region of 0.1-3× and the target genes of >1000×depth. All cases of fetal aneuploidy and de novo mutations of achondroplasia/thanatophoric dysplasia were identified with high sensitivities and specificities except for one false-negative paternal mutation of β-thalassemia.Conclusions: TAGs-seq is a novel NIPT method that combines the fetal aneuploidy screening and the detection of de novo FGFR3 mutations and paternal HBB mutations. [ABSTRACT FROM AUTHOR]

Background: Growth differentiation factor 11 (GDF11) might be a key factor responsible for the weakening of mesenchymal stem cell (MSC) osteogenic differentiation in tooth extraction sockets in patients with type 2 diabetes mellitus (T2DM). This study aimed to confirm that inhibition of GDF11 could promote bone healing in tooth extraction sockets and facilitate MSC osteogenic differentiation under T2DM conditions.Methods: Three streptozotocin-induced T2DM pig models and two control pig models were established. The T2DM pigs were treated with an intrasocket injection of GDF11 inhibitor in the left mandible, whereas the right side was maintained for natural healing. The postextraction socket healing of the T2DM pigs was compared with that of nondiabetic controls. Healing was quantitatively verified by microcomputed tomography, and the GDF11 expression level was detected. MSCs from T2DM pig sockets were cultured and treated with a GDF11 inhibitor. The osteogenic differentiation ability of MSCs was also compared among groups.Results: The expression of GDF11 in the tooth extraction sockets from T2DM pigs increased significantly post extraction. Bone healing was promoted by periodic injection of the GDF11 inhibitor into the extraction sockets of T2DM pigs. Furthermore, the osteogenic differentiation ability of T2DM-MSCs was improved in pigs treated with the GDF11 inhibitor.Conclusions: GDF11 inhibition could promote bone healing in the tooth extraction socket and facilitate MSC osteogenic differentiation under T2DM conditions. GDF11 could be a potential therapeutic target for undesirable alveolar bone healing in T2DM patients. [ABSTRACT FROM AUTHOR]

Ginsenoside Rd (GRd) is a biologically active component of ginseng that stimulates the proliferation of endogenous stem cells. The objective of our research was to evaluate the utility of GRd in gastrointestinal mucosal regeneration in a rat model of inflammatory bowel disease (IBD) and to clarify whether GRd exerts its pharmacological effects by modulating endogenous intestinal stem cells. The IBD rat model was established via subcutaneous injection of indomethacin, and 10, 20, or 40 mg/kg GRd or an equal volume of physiological saline was then administered orally to rats in different groups every day for seven consecutive days. We observed that GRd treatment, especially 20 mg/kg GRd, significantly reduced indomethacin-induced damage compared with that in the control group. By measuring the mRNA and protein levels of the intestinal stem cell markers Bmi and Msi-1 and the intestinal epithelial cell marker CDX-2 as well as by double-labelling these markers with 5-bromo-2-deoxyuridine (BrdU), we inferred that GRd could stimulate the proliferation and differentiation of endogenous intestinal stem cells in IBD model rats, leading to improved recovery of intestinal function. [ABSTRACT FROM AUTHOR]

In this article we provide the optimal timing and equilibrium terms of a vertical merger with two sources of uncertainty in the production chain, namely, marginal cost of raw material and price level of final product. By eliminating monopoly power and transaction cost in the production process between upstream and downstream firms, a vertical merger can increase social welfare, which is consistent with the literature. The optimal threshold of a vertical merger is negatively correlated with transaction cost in the intermediate product market. Vertical mergers also accelerate when merging provides natural hedging for the postmerger firm, that is, when the correlation between the two uncertainties increases. [ABSTRACT FROM AUTHOR]

Background and Purpose: T helper cell 1 (Th1)-skewed neurotoxicity contributes to the poor outcome of stroke in rodents. Here, we have elucidated the mechanism of the Th1/Th2 shift in acute ischaemic stroke (AIS) patients at hyperacute phase and have looked for a miRNA-based therapeutic target.Experimental Approach: MiR-494 levels in blood from AIS patients and controls were measured by real-time PCR. C57BL/6J mice were subjected to transient middle cerebral artery occlusion, and cortical neurons were subjected to oxygen-glucose deprivation. Luciferase reporter system, chromatin immunoprecipitation sequencing (ChIP-Seq), and ChIP-PCR were used to uncover possible mechanisms.Key Results: In lymphocytes from AIS patients, there was a Th1/Th2 shift and histone deacetylase 2 (HDAC2) was markedly down-regulated. ChIP-seq showed that HDAC2 binding sites were enriched in regulation of Th1 cytokine production, and ChIP-PCR confirmed that HDAC2 binding was changed at the intron of STAT4 and the promoter of T-box transcription factor 21 (T-bet) in lymphocytes from AIS patients. MiR-494 was the most significantly increased miRNA in lymphocytes from AIS patients, and miR-494-3p directly targeted HDAC2. A strong association existed between miR-494 and Th1 cytokines, and neurological deficit as measured by the National Institute of Health Stroke Scale (NIHSS) in AIS patients. In vitro and in vivo experiments showed that antagomir-494 reduced Th1 shift-mediated neuronal and sensorimotor functional damage in the mouse model of ischaemic stroke, via the HDAC2-STAT4 pathway.Conclusion and Implications: We demonstrated that miR-494 inhibition prevented Th1-skewed neurotoxicity through regulation of the HDAC2-STAT4 cascade. [ABSTRACT FROM AUTHOR]

Global DNA and histone methylation patterns in astrocytes following ischemia are influenced by age; however, it is unknown whether aberrant methylation can induce reactive astrogliosis after ischemic stroke in elderly rodents. Here we showed that phosphorylated signal transducer and activator of transcription 3 (STAT3) level increased along with that of the astrogliosis marker glial fibrillary acidic protein (GFAP) on days 1, 3, and 14 post‐reperfusion in 9‐month‐old male mice with middle cerebral artery occlusion (MCAO). Methylation of the STAT3 binding site in the GFAP gene promoter was increased in these mice on days 3 and 14 postreperfusion. The repressive modification histone 3 lysine 27 trimethylation (H3K27me3) was decreased, whereas the permissive modification histone 3 lysine 4 trimethylation was increased in GFAP‐positive cells in the ipsilateral cortex. Furthermore, DNA methyltransferase 1 (DNMT1) expression in astrocytes was upregulated in the ischemic brain. In primary astrocyte cultures, the microRNA miR‐424 was found to target nuclear factor IA (NFIA); miR‐424 agomir increased DNMT1 and H3K27me3 levels in U87 cells subjected to oxygen and glucose deprivation and induced cell cycle arrest in primary astrocytes while suppressing reactive astrocytosis, thereby preserving the structure of neurons and their axons in MCAO mice. These results demonstrate that miR‐424 prevents astrogliosis following cerebral ischemia/reperfusion in elderly mice by enhancing H3K27me3 via NFIA/DNMT1 signaling. [ABSTRACT FROM AUTHOR]

AIM: To verify the influence of type 2 diabetes mellitus (T2DM) on postextraction socket healing and subsequent first‐stage implant surgery. Materials and Methods: We analyzed pre‐extraction and postextraction cone beam computed tomography images of T2DM patients (n = 75) and paired nondiabetic controls to investigate changes in postextraction socket and ridge dimensions. The types of guided bone regeneration (GBR) surgeries were also compared. Three T2DM pig models were established to compare their postextraction socket healing with that of nondiabetic controls. Healing was quantitatively verified by microcomputed tomography. The osteogenic differentiation of mesenchymal stem cells (MSCs) was also compared. Results: Compared to nondiabetic controls, T2DM patients had higher socket width/depth values postextraction across all groups with different healing times. Among the T2DM patients, 62.7% could not receive first‐stage implant surgery within 6 months postextraction, and 54.7% received GBR surgery during first‐stage surgery. Ossification was not achieved in the socket center of the T2DM pig models after 3 months of healing. A decrease in osteogenic differentiation was observed in T2DM‐MSCs. Conclusions: T2DM interferes with the healing of the extraction socket and thus delays first‐stage implant surgery. This phenomenon may be due to the reduced osteogenic differentiation of MSCs in the sockets. [ABSTRACT FROM AUTHOR]

The protein kinase casein kinase 2 (CK2) exerts its influence on the metabolism of three major cellular substances by phosphorylating essential protein molecules involved in various cellular metabolic pathways. These substances include hormones, especially insulin, rate‐limiting enzymes, transcription factors of key genes, and cytokines. This regulatory role of CK2 is closely tied to important cellular processes such as cell proliferation and apoptosis. Additionally, tumor cells undergo metabolic reprogramming characterized by aerobic glycolysis, accelerated lipid β‐oxidation, and abnormally active glutamine metabolism. In this context, CK2, which is overexpressed in various tumors, also plays a pivotal role. Hence, this review aims to summarize the regulatory mechanisms of CK2 in diverse metabolic pathways and tumor development, providing novel insights for the diagnosis, treatment, and prognosis of metabolism‐related diseases and cancers. [ABSTRACT FROM AUTHOR]

ABSTRACT: Injury to the spinal facet capsule, an innervated ligament with heterogeneous collagen organization, produces pain. Although mechanical facet joint trauma activates embedded afferents, it is unclear if, and how, the varied extracellular microstructure of its ligament affects sensory transduction for pain from mechanical inputs. To investigate the effects of macroscopic deformations on afferents in collagen matrices with different organizations, an in vitro neuron‐collagen construct (NCC) model was used. NCCs with either randomly organized or parallel aligned collagen fibers were used to mimic the varied microstructure in the facet capsular ligament. Embryonic rat dorsal root ganglia (DRG) were encapsulated in the NCCs; axonal outgrowth was uniform and in all directions in random NCCs, but parallel in aligned NCCs. NCCs underwent uniaxial stretch (0.25 ± 0.06 strain) corresponding to sub‐failure facet capsule strains that induce pain. Macroscopic NCC mechanics were measured and axonal expression of phosphorylated extracellular signal‐regulated kinase (pERK) and the neurotransmitter substance P (SP) was assayed at 1 day to assess neuronal activation and nociception. Stretch significantly upregulated pERK expression in both random and aligned gels (p < 0.001), with the increase in pERK being significantly higher (p = 0.013) in aligned than in random NCCs. That increase likely relates to the higher peak force (p = 0.025) and stronger axon alignment (p < 0.001) with stretch direction in the aligned NCCs. In contrast, SP expression was greater in stretched NCCs (p < 0.001) regardless of collagen organization. These findings suggest that collagen organization differentially modulates pain‐related neuronal signaling and support structural heterogeneity of ligament tissue as mediating sensory function. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 36:770–777, 2018. [ABSTRACT FROM AUTHOR]

Objective To analyse the synergistic effect of polymorphism of the tandem repeat sequence u- VNTR of 5-hydroxytryptamine 2A (5- HT2A) receptor gene and monoamine oxidase A ( MAOA) gene on the negative emotion in frontal lobe of patients with depression through functional magnetic resonance imaging (f MRI) technique. Methods Functional magnetic resonance imaging scanning was performed for 72 patients with depression and 70 gender, age-matched healthy people with physical examination under negative emotion recognition task. Polymerase chain reaction-restriction fragment length polymorphism ( PCR- RFLP) method was adopted to analyse genotype. The superior, middle and inferior gyrus of bilateral frontal lobe was regarded as the brain region of interest, and then the difference of activation intensity in frontal lobe subregion between control groups and patient groups with different genotypes, and the interaction between the two kinds of polymorphism were compared. Results The activation intensity in right frontal middle gyrus of patients with CC genotype increased obviously compared with TT and TC genotype patient groups and TT genotype control group ( P<0·01); the activation intensity in right frontal inferior gyrus of patients with CC genotype increased obviously compared with TT and TC genotype patient groups and control groups ( P<0·01); the activation intensity in right frontal middle gyrus and left frontal inferior gyrus of patients with MAOA high-activity genotype increased obviously compared with patient and control groups with MAOA low-activity genotype ( P<0·01). In sum, there existed synergistic effect of the two genotypes on the activation abnormality of negative emotion recognition in right frontal middle gyrus ( F = 6·18, P = 0·029). The negative activation in right frontal middle gyrus of patients with CC+H genotypes increased most obviously ( P<0·05). Conclusion The frontal abnormality of patients with depression had certain 5- HT genetic basis, and 5- HT2A receptor CC allele and MAOA-H genotype had synergistic effect on the activity abnormality when recognizing negative emotion in right frontal middle gyrus of patients with depression. [ABSTRACT FROM AUTHOR]

Network‐wide short‐term passenger flow prediction is critical for the operation and management of metro systems. However, it is challenging due to the inherent non‐stationarity, nonlinearity, and spatial–temporal dependencies within passenger flow. To tackle these challenges, this paper introduces a hybrid model called multi‐scale dynamic propagation spatial–temporal network (MSDPSTN). Specifically, the model employs multivariate empirical mode decomposition to jointly decompose the multivariate passenger flow into multi‐scale intrinsic mode functions. Then, a set of dynamic graphs is developed to reveal the passenger propagation law in metro networks. Based on the representation, a deep learning model is proposed to achieve multistep passenger flow prediction, which employs the dynamic propagation graph attention network with long short‐term memory to extract the spatial–temporal dependencies. Extensive experiments conducted on a real‐world dataset from Chengdu, China, validate the superiority of the proposed model. Compared to state‐of‐the‐art baselines, MSDPSTN reduces the mean absolute error, root mean squared error, and mean absolute percentage error by at least 3.243%, 4.451%, and 4.139%, respectively. Further quantitative analyses confirm the effectiveness of the components in MSDPSTN. This paper contributes to addressing inherent features of passenger flow to enhance prediction performance, offering critical insights for decision‐makers in implementing real‐time operational strategies. [ABSTRACT FROM AUTHOR]

Background: Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbidity rates in Asia. Methods: TYR, OCA2, and SLC45A2 mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose. Three genes of all individuals were amplified by polymerase chain reaction and examined by Sanger sequencing. The pathogenicity of the detected mutations were analyzed by Mutation Taster, PolyPhen 2, and SIFT software, and the conservation of the substituted amino acids were analyzed by MEGA software. Results: Eleven TYR mutations, three OCA2 mutations, and two SLC45A2 mutations were identified in 14 OCA type 1 patients, two OCA type 2 patients, and two OCA type 4 patients. c.1021A>G, p.R341G in TYR, c.1096_1104del, p.V366*, and c.1079C>T, p.S360F in OCA2 were novel. One of the four fetuses carried compound heterozygous mutation of TYR and became spontaneous abortion, the other three carried no mutations and appeared normal at birth. Conclusion: In this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling. [ABSTRACT FROM AUTHOR]