Reflectance spectroscopy analysis and lithium content estimation in lithium-rich rocks and stream sediments: Insights from Tuanjie Peak, Western Kunlun, China.

Lithium, a rare metal of strategic importance, has garnered heightened global attention. This investigation delves into the laboratory visible-near infrared and short-wavelength infrared reflectance (VNIR-SWIR 350 nm-2500 nm) spectral properties of lithium-rich rocks and stream sediments, aiming to elucidate their quantitative relationship with lithium concentration. This research seeks to pave new avenues and furnish innovative technical solutions for probing sedimentary lithium reserves. Conducted in the Tuanjie Peak region of Western Kunlun, Xinjiang, China, this study analyzed 614 stream sediments and 222 rock specimens. Initial steps included laboratory VNIR-SWIR spectral reflectance measurements and lithium quantification. Following the preprocessing of spectral data via Savitzky-Golay (SG) smoothing and continuum removal (CR), the absorption positions (Pos2210nm, Pos1910nm) and depths (Depth2210, Depth1910) in the rock spectra, as well as the Illite Spectral Maturity (ISM) of the rock samples, were extracted. Employing both the Successive Projections Algorithm (SPA) and genetic algorithm (GA), wavelengths indicative of lithium content were identified. Integrating the lithium-sensitive wavelengths identified by these feature selection methods, A quantitative predictive regression model for lithium content in rock and stream sediments was developed using partial least squares regression (PLSR), support vector regression (SVR), and convolutional neural network (CNN). Spectral analysis indicated that lithium is predominantly found in montmorillonite and illite, with its content positively correlating with the spectral maturity of illite and closely related to Al-OH absorption depth (Depth2210) and clay content. The SPA algorithm was more effective than GA in extracting lithium-sensitive bands. The optimal regression model for quantitative prediction of lithium content in rock samples was SG-SPA-CNN, with a correlation coefficient prediction (Rp) of 0.924 and root-mean-square error prediction (RMSEP) of 0.112. The optimal model for the prediction of lithium content in stream sediment was SG-SPA-CNN, with an Rp and RMSEP of 0.881 and 0.296, respectively. The higher prediction accuracy for lithium content in rocks compared to sediments indicates that rocks are a more suitable medium for predicting lithium content. Compared to the PLSR and SVR models, the CNN model performs better in both sample types. Despite the limitations, this study highlights the effectiveness of hyperspectral technology in exploring the potential of clay-type lithium resources in the Tuanjie Peak area, offering new perspectives and approaches for further exploration.

A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.

Recessive congenital methemoglobinemia (RCM) is a hereditary autosomal disorder with an extremely low incidence rate. Here, we report a case of methemoglobinemia type I in a patient with congenital persistent cyanosis. The condition was attributed to a novel compound heterozygous mutation in CYB5R3, characterized by elevated methemoglobin levels (13.4 % of total hemoglobin) and undetectable NADH cytochrome b5 reductase (CYB5R3) activity. Whole-exome sequencing (WES) revealed two heterozygous mutations in CYB5R3: a previously reported pathogenic missense mutation c.611G>A(p.Cys204Tyr) inherited from the father, and a novel stop codon mutation c.906A>G(p.*302Trpext*42) from the mother, the latter mutation assessed as likely pathogenic according to ACMG guidelines. In cells overexpressing the CYB5R3 c.906A>G mutant construct, the CYB5R3 mRNA level was significantly lower than in cells overexpressing the wild-type (WT) CYB5R3 construct. However, there was no significant difference in protein expression levels between the mutant and WT constructs. Notably, an additional protein band of approximately 55 kDa was detected in the mutant cells. Immunofluorescence localization showed that, compared to wild-type CYB5R3, the subcellular localization of the CYB5R3 p.*302Trpext*42 mutant protein did not show significant changes and remained distributed in the endoplasmic reticulum and mitochondria. However, the c.906A>G(p.*302Trpext*42) mutation resulted in increased intracellular reactive oxygen species (ROS) levels and decreased NAD+/NADH ratio, suggesting impaired CYB5R3 function and implicating this novel mutation as likely pathogenic.

NIR responsive scaffold with multistep shape memory and photothermal-chemodynamic properties for complex tissue defects repair and antibacterial therapy.

Complex tissue damage accompanying with bacterial infection challenges healthcare systems globally. Conventional tissue engineering scaffolds normally generate secondary implantation trauma, mismatched regeneration and infection risks. Herein, we developed an easily implanted scaffold with multistep shape memory and photothermal-chemodynamic properties to exactly match repair requirements of each part from the tissue defect by adjusting its morphology as needed meanwhile inhibiting bacterial infection on demand. Specifically, a thermal-induced shape memory scaffold was prepared using hydroxyethyl methacrylate and polyethylene glycol diacrylate, which was further combined with the photothermal agent iron tannate (FeTA) to produce NIR light-induced shape memory property. By varying ingredients ratios in each segment, this scaffold could perform a stepwise recovery under different NIR periods. This process facilitated implantation after shape fixing to avoid trauma caused by conventional methods and gradually filled irregular defects under NIR to perform suitable tissue regeneration. Moreover, FeTA also catalyzed Fenton reaction at bacterial infections with abundant H2O2, which produced excess ROS for chemodynamic antibacterial therapy. As expected, bacteriostatic rate was further enhanced by additional photothermal therapy under NIR. The in vitro and vivo results showed that our scaffold was able to perform high efficacy in both antibiosis, inflammation reduction and wound healing acceleration, indicating a promising candidate for the regeneration of complex tissue damage with bacterial infection.

[Molecular study of a case with variant of RHCE*ce allele in haplotype dce resulting in weakened e antigen].

OBJECTIVE: To explore the Rh genotype for a female with RhD(-) blood type and its molecular basis. METHODS: A 26-year-old female who had attended the outpatient clinic of the First Affiliated Hospital of Zhengzhou University in August 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents for Rh phenotyping with gel card method. PCR-sequence-based typing (PCR-SBT) and DNA sequencing were used to determine the RHD zygosity and Rh genotype of the proband and her parents. Homology modeling of Rh proteins was performed with bioinformatic software, and protein structural alterations caused by the variant was simulated by molecular dynamics. RESULTS: Serological tests showed that the proband and her father both had weakened e antigen of the Rh phenotype. PCR-SBT and DNA sequencing showed that the genotypes of the proband and her parents were dce/dCE, dce/DcE and dCE/DcE, respectively. And the genotypes of the RHD and RHCE of the proband were RHD*01N.01/RHD*01N.16, RHCE*01.01/RHCE*04, respectively. Protein simulation and molecular dynamics analysis revealed that the ce_16C variant resulted from RHCE*ce (c.48G>C) may alter the structure of intracellular and extracellular loops, mainly affecting the mobility of extracellular loops 2, 6 and intracellular loops 3, 4. CONCLUSION: Variant of the RHCE*ce allele c.48G>C probably underlay the weakened e antigen in this proband.

Development and Validation of a Nomogram for Predicting Acute Kidney Injury in Septic Patients.

Purpose: Sepsis-associated acute kidney injury (S-AKI) is associated with increased morbidity and mortality. We aimed to develop a nomogram for predicting the risk of S-AKI patients. Patients and Methods: We collected data from septic patients admitted to the Provincial Hospital Affiliated with Shandong First Medical University from January 2019 to September 2022. Septic patients were divided into two groups based on the occurrence of AKI. A nomogram was developed by multiple logistic regression analyses. The performance of the nomogram was evaluated using C-statistics, calibration curves, and decision curve analysis (DCA). The validation cohort contained 70 patients between December 2022, and March 2023 in the same hospital. Results: 198 septic patients were enrolled in the training cohort. Multivariate logistic regression analysis showed that neutrophil gelatinase-associated lipocalin (NGAL), platelet-to-lymphocyte ratio (PLR), and vasopressor use were independent risk factors for S-AKI. A nomogram was developed based on these factors. C-statistics for the training and validation cohorts were respectively 0.873 (95% CI 0.825-0.921) and 0.826 (95% CI 0.727-0.924), indicating high prediction accuracy. The calibration curves showed good concordance. DCA revealed that the nomogram was of great clinical value. Conclusion: The nomogram presents early and effective prediction for the S-AKI patients, and provides optimal intervention to improve patient outcomes.

Ferroptosis in liver diseases: Fundamental mechanism and clinical implications.

This editorial discusses a recently published paper in the World Journal of Gastroenterology. Our research focuses on p53's regulatory mechanism for controlling ferroptosis, as well as the intricate connection between ferroptosis and liver diseases. Ferroptosis is a specific form of programmed cell death that is de-pendent on iron and displays unique features in terms of morphology, biology, and genetics, distinguishing it from other forms of cell death. Ferroptosis can affect the liver, which is a crucial organ responsible for iron storage and meta-bolism. Mounting evidence indicates a robust correlation between ferroptosis and the advancement of liver disorders. P53 has a dual effect on ferroptosis through various distinct signaling pathways. However, additional investigations are required to clarify the regulatory function of p53 metabolic targets in this complex association with ferroptosis. In the future, researchers should clarify the mechanisms by which ferroptosis and other forms of programmed cell death contribute to the progression of liver diseases. Identifying and controlling important regulatory factors associated with ferroptosis present a promising therapeutic strategy for liver disorders.

Efficacy of a health education technology program in improving adherence to self-management behaviors and quality of life among adults with type 2 diabetes: A randomized controlled trial.

AIM: This study examined the efficacy of a health education technology program on self-management adherence behavior and quality of life among people with type 2 diabetes (T2D). METHODS: A randomized experimental study design was employed. A total of 110 subjects was recruited. The experimental group received a novel technology education program plus routine shared care. The control group received routine shared care alone. Quality of life and adherence to self-management behavior questionnaires were used to measure outcomes. A linear mixed-effects model was used to analyze changes in quality of life after controlling for pre-test effects. The odds ratio was calculated for differences in adherence behavior between the two groups. RESULTS: The between-group mean difference in quality of life scores and adherence to physical activity comparing pre-test at 3 months follow-up showed significant progress at 3 months post-test compared with the control group. However, the increase in mean quality of life scores and adherence behavior at 6 months did not demonstrate a sustained between-group difference. CONCLUSION: The results showed adherence to physical activity and improved quality of life in patients with T2D at 3 months post intervention. Therefore, the program can be used as an intensive model for diabetes shared care.

Squaraine-Linked Magnetic Covalent Organic Framework as a Solid-Phase Extraction Absorbent to Determine Trace Phenylpyrazoles.

Phenylpyrazoles are widely used pesticides in the food industry. It is highly desirable to develop efficient pre-treatment and analysis methods to extract and detect phenylpyrazoles in complex food matrices. Herein, the study reports novel squaraine-linked zwitterionic core-shell magnetic covalent organic frameworks (MCOFs),  which are found to be excellent pretreatment materials for the detection of trace phenylpyrazoles in samples. By coupling MCOFs to magnetic solid-phase extraction (MSPE) with Ultra Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS) analysis, the detection of phenylpyrazoles (fipronil, fipronil sulfone, fipronil sulfide, fipronil de-sulfoxide, fipronil desulfinyl, ethiprole, and flufiprole) is achieved and shows good linearity at concentrations of 1-800 µg L-1 (R2 ≥ 0.9930). The limit of detection (LOD), limit of quantification (LOQ), and recovery rates are 0.01-0.50 µg kg-1, 0.04-1.72 µg kg-1, and 70.96-115.32%, respectively. More importantly, this method is successfully applied to determine the phenylpyrazoles in commercial egg, poultry, milk, jujube, cabbage, tea, and rice with a detection rate of ≈0.04%. Therefore, the developed method may contribute to a new strategy for the purification and multi-target extraction of complex food matrices.

Epigenetic control of commensal induced Th2 Responses and Intestinal immunopathology.

Understanding the initiation of T-helper (Th)-2 immunity is crucial for addressing allergic diseases that have been linked to the commensal microbiota. However, Th2 responses are notably absent from known host-microbiota intestinal immune circuits. Notably, the commensal protist Tritrichomonas induces a transient innate ILC2 circuit rather than a chronic Th2 circuit. Canonical Th2 responses rely on the induction of IL-4 production by innate cells. This study shows that the absence of Tet2 , a DNA demethylase, reprograms naïve T cells to autonomously produce IL-4 upon T cell receptor stimulation, bypassing the need for IL-4 from innate cells for Th2 differentiation. Loss of this checkpoint induces chronic Th2 responses to Tritrichomonas , associated with IL-25-dependent barrier dysfunction and increased susceptibility to allergic pathology in response to dietary antigens. Sentence Summary: Regulation of cell autonomous IL-4 in T cells is critical to prevent dysregulated Th2 immunity to commensals and predisposition to allergy.

Neural Adaptation of the Reward System in Primary Dysmenorrhea.

Introduction The brain's reward system (RS) reacts differently to pain and its alleviation. This study examined the correlation between RS activity and behavior during both painful and pain-free periods in individuals with primary dysmenorrhea (PDM) to elucidate their adaptive and maladaptive responses throughout the menstrual cycle. Methods Ninety-two individuals with PDM and 90 control participants underwent resting-state functional magnetic resonance imaging (rsfMRI) scans during their menstrual and peri-ovulatory phases. Regional homogeneity (ReHo) and amplitude of low-frequency fluctuation (ALFF) analyses were used to evaluate RS responses. Psychological evaluations were conducted using the McGill Pain Questionnaire and the Pain Catastrophizing Scale. Results ReHo analysis showed higher values in the left putamen and right amygdala of the PDM group during the peri-ovulatory phase compared to the menstrual phase. ALFF analysis revealed lower values in the putamen of the PDM group compared to controls, regardless of phase. ReHo and ALFF values in the putamen, amygdala, and nucleus accumbens were positively correlated with pain scales during menstruation, while ALFF values in the ventral tegmental area inversely correlated with pain intensity. Those with severe PDM (pain intensity ≥ 7) displayed distinct amygdala ALFF patterns between pain and pain-free phases. PDM participants also had lower ReHo values in the left insula during menstruation, with no direct correlation to pain compared to controls. Discussion Our study highlights the pivotal role of the RS in dysmenorrhea management, exhibiting varied responses between menstrual discomfort and non-painful periods among individuals with PDM. During menstruation, the RS triggers mechanisms for pain avoidance and cognitive coping strategies, while it transitions to processing rewards during the peri-ovulatory phase. This demonstrates the flexibility of the RS in adapting to the recurring pain experienced by those with PDM.

Rational analysis of data from LC-MS/MS: new insights in acylcarnitines as biomarkers for brain disorders or neurotoxicity.

Objective: LC-MS/MS-based metabolomics is an important tool for studying disease-related biomarkers. Conventionally, different strategies have been used to screen biomarkers. However, many studies for biomarker screening by different strategies have ignored the dose-response relationship between the biomarker level and exposure level, and no relevant studies have described and compared different strategies in detail. Phenobarbital (PHB) which belongs to the barbiturates, was selected as the typical representative of neurotoxins. Acylcarnitines have been promising candidates for diagnostic biomarkers for several neurological disorders and neurotoxicity. In this work, we aimed to use an acute PHB poisoning animal model to clarify PHB poisoning effects on plasma and brain acylcarnitine changes and how to rationally analyze data from LC-MS/MS. Methods: The acylcarnitine profiles in plasma and brain regions in an actuate PHB poisoning animal model were utilized. The dose-response relationship between plasma PHB and carnitine and acylcarnitines (CARs) in plasma and brain were assessed by the variance analysis trend test and Spearman's rank correlation test. In different strategies, principal component analysis (PCA) and partial least squares discriminant analysis (OPLS-DA) screened the differential CARs, variable importance plots (VIPs) were utilized to select putative biomarkers for PHB-induced toxicity, and receiver operating characteristic (ROC) curve analysis then illustrated the reliability of biomarkers. Results: Under the first strategy, 14 potential toxicity biomarkers were obtained including eight downregulated CARs with AUC >0.8. Under the second strategy, 11 potential toxicity biomarkers were obtained containing five downregulated CARs with AUC >0.8. Only when the dose-response relationship was fully considered, different strategies screen for the same biomarkers (plasma acetyl-carnitine (C2) and plasma decanoyl-carnitine (C10)), which indicated plasma acylcarnitines might serve as toxicity biomarkers. In addition, the plasma CAR level changes showed differences from brain CAR level changes, and correlations between plasma CARs and their brain counterparts were weak. Conclusion: We found that plasma C2 and C10 might serve as toxicity biomarkers for PHB poisoning disorders, and PHB poisoning effects on changes in plasma CARs may not be fully representative of changes in brain CARs.

Enhanced labor pain monitoring using machine learning and ECG waveform analysis for uterine contraction-induced pain.

OBJECTIVES: This study aims to develop an innovative approach for monitoring and assessing labor pain through ECG waveform analysis, utilizing machine learning techniques to monitor pain resulting from uterine contractions. METHODS: The study was conducted at National Taiwan University Hospital between January and July 2020. We collected a dataset of 6010 ECG samples from women preparing for natural spontaneous delivery (NSD). The ECG data was used to develop an ECG waveform-based Nociception Monitoring Index (NoM). The dataset was divided into training (80%) and validation (20%) sets. Multiple machine learning models, including LightGBM, XGBoost, SnapLogisticRegression, and SnapDecisionTree, were developed and evaluated. Hyperparameter optimization was performed using grid search and five-fold cross-validation to enhance model performance. RESULTS: The LightGBM model demonstrated superior performance with an AUC of 0.96 and an accuracy of 90%, making it the optimal model for monitoring labor pain based on ECG data. Other models, such as XGBoost and SnapLogisticRegression, also showed strong performance, with AUC values ranging from 0.88 to 0.95. CONCLUSIONS: This study demonstrates that the integration of machine learning algorithms with ECG data significantly enhances the accuracy and reliability of labor pain monitoring. Specifically, the LightGBM model exhibits exceptional precision and robustness in continuous pain monitoring during labor, with potential applicability extending to broader healthcare settings. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04461704.

Functional Investigations of p53 Acetylation Enabled by Heterobifunctional Molecules.

Post-translational modifications (PTMs) dynamically regulate the critical stress response and tumor suppressive functions of p53. Among these, acetylation events mediated by multiple acetyltransferases lead to differential target gene activation and subsequent cell fate. However, our understanding of these events is incomplete due to, in part, the inability to selectively and dynamically control p53 acetylation. We recently developed a heterobifunctional small molecule system, AceTAG, to direct the acetyltransferase p300/CBP for targeted protein acetylation in cells. Here, we expand AceTAG to leverage the acetyltransferase PCAF/GCN5 and apply these tools to investigate the functional consequences of targeted p53 acetylation in human cancer cells. We demonstrate that the recruitment of p300/CBP or PCAF/GCN5 to p53 results in distinct acetylation events and differentiated transcriptional activities. Further, we show that chemically induced acetylation of multiple hotspot p53 mutants results in increased stabilization and enhancement of transcriptional activity. Collectively, these studies demonstrate the utility of AceTAG for functional investigations of protein acetylation.

The soybean NUCLEAR FACTOR-Y C4 and α-EXPANSIN 7 module influences phosphorus uptake by regulating root morphology.

Soybean (Glycine max) is a globally important crop; however, its productivity is severely impacted by phosphorus (P) deficiency. Understanding the transcriptional regulation of low P (LP) response mechanisms is essential for enhancing soybean P use efficiency. In this study, we found that the Nuclear Factor-Y (NF-Y) transcription factor GmNF-YC4, in addition to its previously discovered role in regulating flowering time, possesses another functions in modulating root morphology and P uptake. Knockout of GmNF-YC4 notably boosted root proliferation and P uptake while also influencing the expression of genes related to LP stress. GmNF-YC4 acts as a specific DNA-binding transcriptional repressor, modulating the expression of the soybean α-EXPANSIN 7 (GmEXPA7) gene, which encodes a cell wall-loosening factor, through direct binding to its promoter region. Further investigation revealed that GmEXPA7 expression is predominantly root-specific and induced by LP. Moreover, overexpression of GmEXPA7 in soybean hairy roots enhanced LP tolerance by stimulating root growth and P uptake. We further screened and obtained more potential target genes of GmNF-YC4 via DNA affinity purification sequencing, including those related to LP stress. These findings underscore the pivotal role of the GmNF-YC4-GmEXPA7 module as a key regulator in mitigating LP stress in soybean.

Investigation of the α9-nicotinic receptor single nucleotide polymorphisms induced oncogenic properties and molecular mechanisms in breast cancer.

α9-nAChR, a subtype of nicotinic acetylcholine receptor, is significantly overexpressed in female breast cancer tumor tissues compared to normal tissues. Previous studies have proposed that specific single nucleotide polymorphisms (SNPs) in the CHRNA9 (α9-nAChR) gene are associated with an increased risk of breast cancer in interaction with smoking. The study conducted a breast cancer risk assessment of the α9-nAChR SNP rs10009228 (NM_017581.4:c.1325A > G) in the Taiwanese female population, including 308 breast cancer patients and 198 healthy controls revealed that individuals with the heterozygous A/G or A/A wild genotype have an increased susceptibility to developing breast cancer in the presence of smoking compared to carriers of the G/G variant genotype. Our investigation confirmed the presence of this missense variation, resulting in an alteration of the amino acid sequence from asparagine (N442) to serine (S442) to facilitate phosphorylation within the α9-nAchR protein. Additionally, overexpression of N442 (A/A) in breast cancer cells significantly enhanced cell survival, migration, and cancer stemness compared to S442 (G/G). Four-line triple-negative breast cancer patient-derived xenograft (TNBC-PDX) models with distinct α9-nAChR rs10009228 SNP genotypes (A/A, A/G, G/G) further demonstrated that chronic nicotine exposure accelerated tumor growth through sustained activation of the α9-nAChR downstream oncogenic AKT/ERK/STAT3 pathway, particularly in individuals with the A/G or A/A genotype. Collectively, our study established the links between genetic variations in α9-nAChR and smoking exposure in promoting breast tumor development. This emphasizes the need to consider gene-environment interactions carefully while developing effective breast cancer prevention and treatment strategies.

Association between self-reported sleep apnea and biomarkers of liver injury: Evidence from National Health and Nutrition Examination Survey.

The community population based studies on the relationship between obstructive sleep apnea and liver injury are limited. The study aimed to clarify the association between sleep apnea (SA) and liver injury by using the data in The National Health and Nutrition Examination Survey. SA was assessed by the sleep questionnaire and liver injury was evaluated by liver function test, hepatic steatosis index, and fibrosis-4. Weighted multivariable linear regression was performed to examine the association between SA and liver injury. Subgroup analyses and sensitivity analysis were also conducted. A total of 19,362 eligible participants were included in the study. After adjusting for confounders, the presence of SA was significantly associated with increased levels of lnALT, lnAST/alanine aminotransferase, lnGGT, and lnHSI (all P values < .05), but not with lnFIB-4 (P > .05). There is a dose-response relationship between the severity of SA and increased levels of lnALT, lnGGT, and decreased levels of lnAST/alanine aminotransferase (test for trend, all P values < .05). Subgroup analyses revealed that the positive association between SA and liver function, liver steatosis showed a tendency to exist in nonobese, younger, non-Hispanic Black, and male populations. Sensitive analysis showed the relationship between SA and liver injury was stable. Self-reported SA was independently associated with elevated liver enzymes and liver steatosis among US population. The association was more pronounced among nonobese, younger, non-Hispanic Black, and male populations.

The nuclear pore protein Nup2 is essential for growth and development, stress response, pathogenicity and deoxynivalenol biosynthesis in Fusarium graminearum.

BACKGROUND: Wheat is an important grain crop that has been under serious threat from Fusarium graminearum. Nup2, a member of the nuclear pore complex, plays an important role in regulating eukaryotic nuclear protein transport and participates in gene regulation. Dissecting the function of nuclear pore proteins in pathogenic fungi may provide effective targets for novel fungicides. RESULTS: Mutants exhibited nutritional growth defects, asexual/sexual developmental abnormalities. Deficiency of FgNup2 resulted in increased resistance of Fusarium graminearum to cell wall disruptors and increased sensitivity to metal ions. Pathogenicity analyses showed that the mutant was significantly less virulent on flowering wheat ears, consistent with the observed decrease in deoxynivalenol (DON) production. Furthermore, we showed that FgNup2 interacts synergistically with FgTri6, a transcription factor of the TRI family, to regulate the expression of toxin-producing genes, which, in turn, affects the biosynthesis of DON and related toxins. CONCLUSION: This study revealed that FgNup2 plays important roles in the growth and development, cell wall integrity, stress response, pathogenicity, and DON synthesis of F. graminearum. © 2024 Society of Chemical Industry.

Photoexcited Cryptochrome 1 Interacts With SPCHLESS to Regulate Stomatal Development in Arabidopsis.

Stomata are epidermal openings that facilitate plant-atmosphere gas and water exchange during photosynthesis, respiration and water evaporation. SPEECHLESS (SPCH) is a master basic helix-loop-helix (bHLH) transcription factor that determines the initiation of stomatal development. It is known that blue light promotes stomatal development through the blue light photoreceptor cryptochromes (CRYs, CRY1 and CRY2). Whether CRYs regulate stomatal development through directly modulating SPCH is unknown. Here, we demonstrate by biochemical studies that CRY1 physically interacts with SPCH in a blue light-dependent manner. Genetic studies show that SPCH acts downstream of CRY1 to promote stomatal development in blue light. Furthermore, we show that CRY1 enhances the DNA-binding activity of SPCH and promotes the expression of its target genes in blue light. These results suggest that the mechanism by which CRY1 promotes stomatal development involves positive regulation of the DNA-binding activity of SPCH, which is likely mediated by blue light-induced CRY1-SPCH interaction. The precise regulation of SPCH DNA-binding activity by CRY1 may allow plants to optimize stomatal density and pattern according to ambient light conditions.

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility.

Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 (CFAP300) resulting in a stop codon (p.Glu156 *) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.