Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice.

PIWI-interacting RNAs (piRNAs) are small regulatory RNAs (21-35 nucleotides) exclusively expressed in germ cells, where they play a critical role in transposable element repression and post-meiotic gene regulation. The poly(A)-specific RNase-like domain-containing 1 (PNLDC1) protein is essential for piRNA maturation, specifically in 3'-end trimming. Disruption of PNLDC1 has been implicated in nonobstructive azoospermia (NOA) and male infertility.

Fertility test of mice ().

Infertility has emerged as a global health concern, impacting around 8%-12% of couples during their reproductive years. Due to limitations in obtaining human biological samples, mouse models have been widely used for investigating gene functions. Fertility assessment in mouse models is a critical component in reproductive biology for studying gene function and elucidating mechanisms of reproductive disorders.

A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly.

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of male infertility, linked to defective spermiogenesis. Several flagella-associated proteins have been identified as crucial for the proper organization of the sperm flagellar axoneme. We identify a novel homozygous mutation in the CFAP58 gene (c.

A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.

The syndrome of multiple morphological abnormalities of the sperm flagella (MMAF) is one of the most serious kinds of sperm defects, leading to asthenoteratozoospermia and male infertility. In this study, we use whole-exome sequencing to identify genetic factors that account for male infertility in a patient born from a consanguineous Pakistani couple. A homozygous frameshift mutation (c.

AKAP14 is dispensable for mouse fertility.

A-kinase anchoring proteins (AKAPs) constitute a structurally diverse family of scaffold proteins with significant functional relevance. Various AKAP family members localize to distinct subcellular compartments, such as sperm flagella, via their specific domains. In this study, we investigated the physiological function of AKAP14, a potential functional gene for male fertility due to its high expression in human and mouse testicular tissues.

Decoding the expression patterns and characterisation of calmodulin and calmodulin-like gene families in watermelon () under abiotic stresses.

Calmodulin (CaM) and calmodulin-like (CML) gene families are important in combating stress conditions in plants. A total of 36 CaMs/CMLs were identified and found to be randomly dispersed over the 11 chromosomes of Citrullus lanatus (watermelon). Domain analysis verified the presence of characteristic four EF-hand domains in ClCaM proteins and 2-4 EF-hand domains in ClCML proteins.

Transport Dynamics and Physiological Responses of Polystyrene Nanoplastics in Pakchoi: Implications for Food Safety and Environmental Health.

Nanoplastics (NPs) have become a new environmental pollutant that causes serious harm to food safety. They can be absorbed by plants, transported to edible parts, transmitted to the human body along the food chain, and can threaten human health. The research investigated the transport and accumulation pathways of polystyrene NPs (PS-NPs) at varying concentrations using red fluorescence labeling.

S100PBP interacts with nucleoporin TPR and facilitates XY crossover formation in mice.

During meiosis, at least one crossover is selectively generated per pair of homologous chromosomes through homologous recombination to ensure their faithful segregation. The molecular mechanisms controlling meiotic recombination, particularly in XY chromosomes that share a tiny region of homology (i.e.

Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.

Asthenoteratozoospermia, a prevalent cause of male infertility, lacks a well-defined etiology. DNAH12 is a special dynein featured by the absence of a microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger sequencing on infertile patients and fertile controls from six distinct families, we unveiled six biallelic mutations in that co-segregate recessively with male infertility in the studied families.

Follicle-Stimulating Hormone and Testosterone Play a Role in the Regulation of Sertoli Cell Functions Following Germ Cell Depletion In Vitro.

Spermatogenesis is a process of self-renewal of spermatogonial stem cells and their proliferation and differentiation to generate mature sperm. This process involves interactions between testicular somatic (mainly Sertoli cells) and spermatogonial cells at their different stages of development. The functionality of Sertoli cells is regulated by hormones and testicular autocrine/paracrine factors.

Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility.

Multiple morphological abnormalities of sperm flagella (MMAF) is a severe form of asthenoteratozoospermia, characterized by morphological abnormalities and reduced motility of sperm, causing male infertility. Although approximately 60% of MMAF cases can be explained genetically, the etiology of the remaining cases is unclear. Here, we identified two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 ( DNAH10 ), in three patients from two unrelated Pakistani families using whole-exome sequencing (WES), including one compound heterozygous mutation ( DNAH10 : c.

Jasmonic acid and nitric oxide orchestrate a hierarchical melatonin cascade for Botrytis cinerea resistance in tomato.

Tomato gray mold, caused by Botrytis cinerea (B. cinerea), poses a major challenge to tomato production. In plants, B.

Melatonin confers saline-alkali tolerance in tomato by alleviating nitrosative damage and S-nitrosylation of H+-ATPase 2.

Soil salinization and alkalization disrupt redox homeostasis, impairing plant survival and crop production. Disruption of redox homeostasis can cause accumulation of reactive nitrogen species, such as nitric oxide (NO), which causes nitrosative damage in which the properties of biomacromolecules are altered. It is unclear whether melatonin regulates NO homeostasis, thereby affecting plant saline-alkali tolerance.

Novel biallelic ADCY10 variants cause asthenozoospermia with excessive residual cytoplasm and hydronephrosis in humans.

Research Question: Could the novel mutations in ADCY10 cause asthenozoospermia and absorptive hypercalciuria in humans, and the potential pathogenesis?

Design: Whole-exome sequencing and Sanger sequencing were conducted to identify potential pathogenic variants in two unrelated Pakistani families. Reverse transcription polymerase chain reaction was utilized to assess the mutation effect on mRNA levels in the patients. Transmission electron microscopy and scanning electron microscopy were performed to examine the sperm flagellar ultrastructure.

Brassinosteroid Enhances Cucumber Stress Tolerance to NaHCO by Modulating Nitrogen Metabolism, Ionic Balance and Phytohormonal Response.

Under NaHCO stress, exogenous 24-epibrassinolide (EBR) markedly alleviated Na accumulation in cucumber plants, thereby decreasing the Na/K, Na/Mg, and Na/Ca ratios. This mitigation was accompanied by elevated concentrations of K, Ca, and Mg, as well as enhanced expression of the and genes. In addition, the activities of plasma membrane H-ATPase, vesicular membrane H-ATPase, and vesicular membrane H-PPase were significantly increased, contributing to the maintenance of ionic balance in cucumber plants.

Exogenous 2,4-Epibrassinolide Alleviates Alkaline Stress in Cucumber by Modulating Photosynthetic Performance.

Brassinosteroids (BRs) are recognized for their ability to enhance plant salt tolerance. While considerable research has focused on their effects under neutral salt conditions, the mechanisms through which BRs regulate photosynthesis under alkaline salt stress are less well understood. This study investigates these mechanisms, examining plant growth, photosynthetic electron transport, gas exchange parameters, Calvin cycle dynamics, and the expression of key antioxidant and Calvin cycle genes under alkaline stress conditions induced by NaHCO.

Effects of Cyclic Aeration Subsurface Drip Irrigation on Greenhouse Tomato Quality and Water and Fertilizer Use Efficiency.

Tomato (Jinglu 6335) was selected for assessing the impact of varying fertilizer (F:N-PO-KO) and aeration rates on crop quality, as well as water and fertilizer utilization efficiency during the cyclic aeration subsurface drip irrigation process. Four aeration treatments (O1, O2, O3, and S, representing aeration ratios of 16.25%, 14.

Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.

Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement. Mammalian sperm-associated antigen 17 ( SPAG17 ) encodes a conserved axonemal protein of cilia and flagella, forming part of the C1a projection of the central apparatus, with functions related to ciliary/flagellar motility, skeletal growth, and male fertility.

ZC3H14 facilitates backsplicing by binding to exon-intron boundary and 3' UTR.

Circular RNAs (circRNAs) are natural outputs of eukaryotic transcription and RNA processing and have emerged as critical regulators in physiology and diseases. Although multiple cis-elements and trans-factors are reported to modulate the backsplicing of circRNA biogenesis, most of these regulations play roles in flanking introns of circRNAs. Here, using a genome-wide CRISPR knockout screen, we have identified an evolutionarily conserved RNA-binding protein ZC3H14 in regulating circRNA biogenesis.

A homozygous nonsense variant in HENMT1 causes male infertility in humans and mice.

Background: HENMT1 encodes a small RNA methyltransferase that plays a crucial role in mouse spermatogenesis through the methylation of the 3' end of PIWI-interacting RNAs.

Objectives: Our study aims to elucidate the relationship between HENMT1 and male infertility in humans.

Materials And Methods: A consanguineous family, having a single non-obstructive azoospermia patient was recruited for pathogenic variants screening.

A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.

Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA>A) in the adenylate kinase 7 (AK7) gene by whole-exome sequencing in infertile individuals.

High-nitrogen-induced γ-aminobutyric acid triggers host immunity and pathogen oxidative stress tolerance in tomato and Ralstonia solanacearum interaction.

Soil nitrogen (N) significantly influences the interaction between plants and pathogens, yet its impact on host defenses and pathogen strategies via alterations in plant metabolism remains unclear. Through metabolic and genetic studies, this research demonstrates that high-N-input exacerbates tomato bacterial wilt by altering γ-aminobutyric acid (GABA) metabolism of host plants. Under high-N conditions, the nitrate sensor NIN-like protein 7 (SlNLP7) promotes the glutamate decarboxylase 2/4 (SlGAD2/4) transcription and GABA synthesis by directly binding to the promoters of SlGAD2/4.