15,368 results match your criteria female mutants

Important role of melanin for fertility in the fungus Podospora anserina.

G3 (Bethesda) 2021 May 11. Epub 2021 May 11.

Univ Paris Diderot, Sorbonne Paris Cité, Laboratoire Interdisciplinaire des Energies de Demain (LIED), 75205 Paris, France.

Melanins are pigments used by fungi to withstand various stresses and to strengthen vegetative and reproductive structures. In Sordariales fungi, their biosynthesis starts with a condensation step catalyzed by an evolutionary-conserved polyketide synthase. Here we show that complete Inactivation of this enzyme in the model ascomycete Podospora anserina through targeted deletion of the PaPks1 gene results in reduced female fertility, in contrast to a previously analyzed nonsense mutation in the same gene that retains full fertility. Read More

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Organ geometry channels reproductive cell fate in the Arabidopsis ovule primordium.

Elife 2021 May 7;10. Epub 2021 May 7.

Plant and Microbial Biology, University of Zürich, Zürich, Switzerland.

In multicellular organisms, sexual reproduction requires the separation of the germline from the soma. In flowering plants, the female germline precursor differentiates as a single spore mother cell (SMC) as the ovule primordium forms. Here, we explored how organ growth contributes to SMC differentiation. Read More

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The association between 5, 10 - methylenetetrahydrofolate reductase and the risk of unexplained recurrent pregnancy loss in China: A Meta-analysis.

Medicine (Baltimore) 2021 Apr;100(17):e25487

Department of Clinical Pharmacy, Capital medical university electric teaching hospital, Beijing, China.

Backgroud: To analyze the correlation between gene polymorphisms of 5,10- methylenetetrahydrofolate reductase (MTHFR) and risk of unexplained recurrent pregnancy loss (URPL) in Chinese women.

Methods: Eligible studies were searched in Pubmed, Embase, Web of Science, Wanfang, and China National Knowledge Infrastructure (CNKI) databases. Established inclusion criteria were used to screening articles, subsequently evaluate the quality of the included studies, Stata 16. Read More

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The chromatin remodeling complex imitation of switch controls stamen filament elongation by promoting jasmonic acid biosynthesis in Arabidopsis.

J Genet Genomics 2021 Mar 4. Epub 2021 Mar 4.

State Key Laboratory of Genetic Engineering, Ministry of Education Key Laboratory of Biodiversity Sciences and Ecological Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200438, China. Electronic address:

Plant reproduction requires the coordinated development of both male and female reproductive organs. Jasmonic acid (JA) plays an essential role in stamen filament elongation. However, the mechanism by which the JA biosynthesis genes are regulated to promote stamen elongation remains unclear. Read More

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Hydrophobic Pocket Occupation Design of Difluoro-Biphenyl-Diarylpyrimidines as Non-Nucleoside HIV-1 Reverse Transcriptase Inhibitors: from -Alkylation to Methyl Hopping on the Pyrimidine Ring.

J Med Chem 2021 Apr 14;64(8):5067-5081. Epub 2021 Apr 14.

Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.

Considering the nonideal metabolic stability of the difluoro-biphenyl-diarylpyrimidine lead compound , a series of novel alkylated difluoro-biphenyl-diarylpyrimidines were designed and synthesized based on their structure. Introducing alkyl or substituted alkyl groups on the linker region to block the potential metabolic sensitive sites generated 22 derivatives. Among them, compound with an -methyl group displayed excellent anti-HIV-1 activity and selectivity. Read More

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Role of Hakai in mA modification pathway in Drosophila.

Nat Commun 2021 04 12;12(1):2159. Epub 2021 Apr 12.

State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.

N6-methyladenosine (mA), the most abundant internal modification in eukaryotic mRNA, is installed by a multi-component writer complex; however, the exact roles of each component remain poorly understood. Here we show that a potential E3 ubiquitin ligase Hakai colocalizes and interacts with other mA writer components, and Hakai mutants exhibit typical mA pathway defects in Drosophila, such as lowered mA levels in mRNA, aberrant Sxl alternative splicing, wing and behavior defects. Hakai, Vir, Fl(2)d and Flacc form a stable complex, and disruption of either Hakai, Vir or Fl(2)d led to the degradation of the other three components. Read More

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Mutation of P-element somatic inhibitor induces male sterility in the diamondback moth, Plutella xylostella.

Pest Manag Sci 2021 Apr 11. Epub 2021 Apr 11.

CAS Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Sciences/Institute of Plant Physiology and Ecology, Shanghai, China.

Background: Genetic manipulation of sex determination pathways in insects provides the basis for a broad range of strategies to benefit agricultural security and human health. The P-element somatic inhibitor (PSI) protein, an exon splicing silencer that promotes male-specific splicing of dsx, plays a critical role in male sexual differentiation and development. The functions of PSI have been characterized in the lepidopteran model species Bombyx mori. Read More

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HAG1 and SWI3A/B control of male germ line development in P. patens suggests conservation of epigenetic reproductive control across land plants.

Plant Reprod 2021 Apr 11. Epub 2021 Apr 11.

Plant Cell Biology, Department of Biology, University of Marburg, Marburg, Germany.

Key Message: Bryophytes as models to study the male germ line: loss-of-function mutants of epigenetic regulators HAG1 and SWI3a/b demonstrate conserved function in sexual reproduction. With the water-to-land transition, land plants evolved a peculiar haplodiplontic life cycle in which both the haploid gametophyte and the diploid sporophyte are multicellular. The switch between these phases was coined alternation of generations. Read More

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Intercellular bridges coordinate the transition from pluripotency to meiosis in mouse fetal oocytes.

Sci Adv 2021 Apr 7;7(15). Epub 2021 Apr 7.

Department of Obstetrics, Gynecology and Reproductive Sciences, Center for Reproductive Sciences, Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA.

Meiosis is critical to generating oocytes and ensuring female fertility; however, the mechanisms regulating the switch from mitotic primordial germ cells to meiotic germ cells are poorly understood. Here, we implicate intercellular bridges (ICBs) in this state transition. We used three-dimensional in toto imaging to map meiotic initiation in the mouse fetal ovary and revealed a radial geometry of this transition that precedes the established anterior-posterior wave. Read More

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A central mechanism of analgesia in mice and humans lacking the sodium channel Na1.7.

Neuron 2021 May 5;109(9):1497-1512.e6. Epub 2021 Apr 5.

Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, Gower Street, London WC1E 6BT, UK. Electronic address:

Deletion of SCN9A encoding the voltage-gated sodium channel Na1.7 in humans leads to profound pain insensitivity and anosmia. Conditional deletion of Na1. Read More

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Neutralizing Monoclonal Anti-SARS-CoV-2 Antibodies Isolated from Immunized Rabbits Define Novel Vulnerable Spike-Protein Epitope.

Viruses 2021 03 26;13(4). Epub 2021 Mar 26.

Israel Institute for Biological Research, Ness-Ziona 74100, Israel.

Monoclonal antibodies represent an important avenue for COVID-19 therapy and are routinely used for rapid and accessible diagnosis of SARS-CoV-2 infection. The recent emergence of SARS-CoV-2 genetic variants emphasized the need to enlarge the repertoire of antibodies that target diverse epitopes, the combination of which may improve immune-diagnostics, augment the efficiency of the immunotherapy and prevent selection of escape-mutants. Antigen-specific controlled immunization of experimental animals may elicit antibody repertoires that significantly differ from those generated in the context of the immune response mounted in the course of disease. Read More

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Combined Transcriptome Analysis Reveals the Ovule Abortion Regulatory Mechanisms in the Female Sterile Line of Carr.

Int J Mol Sci 2021 Mar 19;22(6). Epub 2021 Mar 19.

College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China.

Ovule abortion is a common phenomenon in plants that has an impact on seed production. Previous studies of ovule and female gametophyte (FG) development have mainly focused on angiosperms, especially in . However, because it is difficult to acquire information about ovule development in gymnosperms, this remains unclear. Read More

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DNA topoisomerase 3 is required for efficient germ cell quality control.

J Cell Biol 2021 Jun;220(6)

Department of Chromosome Biology, Max Perutz Laboratories, University of Vienna, Vienna Biocenter, Vienna, Austria.

An important quality control mechanism eliminates meiocytes that have experienced recombination failure during meiosis. The culling of defective oocytes in Caenorhabditis elegans meiosis resembles late oocyte elimination in female mammals. Here we show that topoisomerase 3 depletion generates DNA lesions in both germline mitotic and meiotic compartments that are less capable of triggering p53 (cep-1)-dependent apoptosis, despite the activation of DNA damage and apoptosis signaling. Read More

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Gain-of-function of the 1-aminocyclopropane-1-carboxylate synthase gene ACS1G induces female flower development in cucumber gynoecy.

Plant Cell 2021 Apr;33(2):306-321

Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Key Laboratory of Biology and Genetic Improvement of Horticultural Crops of the Ministry of Agriculture, Sino-Dutch Joint Laboratory of Horticultural Genomics, Beijing 100081, China.

Unisexual flowers provide a useful system for studying plant sex determination. In cucumber (Cucumis sativus L.), three major Mendelian loci control unisexual flower development, Female (F), androecious [a; 1-aminocyclopropane-1-carboxylate {ACC} synthase 11, acs11], and Monoecious (M; ACS2), referred to here as the Female, Androecious, Monoecious (FAM) model, in combination with two genes, gynoecious (g, the WIP family C2H2 zinc finger transcription factor gene WIP1) and the ethylene biosynthetic gene ACC oxidase 2 (ACO2). Read More

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Genetic containment in vegetatively propagated forest trees: CRISPR disruption of LEAFY function in Eucalyptus gives sterile indeterminate inflorescences and normal juvenile development.

Plant Biotechnol J 2021 Mar 27. Epub 2021 Mar 27.

Department of Forest Ecosystems and Society, Oregon State University, Corvallis, OR, USA.

Eucalyptus is among the most widely planted taxa of forest trees worldwide. However, its spread as an exotic or genetically engineered form can create ecological and social problems. To mitigate gene flow via pollen and seeds, we mutated the Eucalyptus orthologue of LEAFY (LFY) by transforming a Eucalyptus grandis × urophylla wild-type hybrid and two Flowering Locus T (FT) overexpressing (and flowering) lines with CRISPR Cas9 targeting its LFY orthologue, ELFY. Read More

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Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.

Gastroenterology 2021 Mar 23. Epub 2021 Mar 23.

Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address:

Background & Aims: The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models.

Method: Whole-exome (n = 4) and candidate gene sequencing (n = 89) was completed on 93 children with cholestasis and normal serum γ-glutamyl transferase (GGT) levels without pathogenic variants in genes known to cause low GGT cholestasis such as ABCB11 or ATP8B1. Read More

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Germline sexual fate is determined by the antagonistic action of dmrt1 and foxl3/foxl2 in tilapia.

Development 2021 Apr 20;148(8). Epub 2021 Apr 20.

Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education), Key Laboratory of Aquatic Science of Chongqing, School of Life Sciences, Southwest University, Chongqing 400715, China.

Germline sexual fate has long been believed to be determined by the somatic environment, but this idea is challenged by recent studies of foxl3 mutants in medaka. Here, we demonstrate that the sexual fate of tilapia germline is determined by the antagonistic interaction of dmrt1 and foxl3, which are transcriptionally repressed in male and female germ cells, respectively. Loss of dmrt1 rescued the germ cell sex reversal in foxl3Δ7/Δ7 XX fish, and loss of foxl3 partially rescued germ cell sex reversal but not somatic cell fate in dmrt1Δ5/Δ5 XY fish. Read More

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A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.

Genetics 2021 Feb;217(2)

Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.

People with NR5A1 mutations experience testicular dysgenesis, ovotestes, or adrenal insufficiency, but we do not completely understand the origin of this phenotypic diversity. NR5A1 is expressed in gonadal soma precursor cells before expression of the sex-determining gene SRY. Many fish have two co-orthologs of NR5A1 that likely partitioned ancestral gene subfunctions between them. Read More

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February 2021

The synaptonemal complex imposes crossover interference and heterochiasmy in .

Proc Natl Acad Sci U S A 2021 Mar;118(12)

Department of Chromosome Biology, Max Planck Institute for Plant Breeding Research, 50829 Cologne, Germany;

Meiotic crossovers (COs) have intriguing patterning properties, including CO interference, the tendency of COs to be well-spaced along chromosomes, and heterochiasmy, the marked difference in male and female CO rates. During meiosis, transverse filaments transiently associate the axes of homologous chromosomes, a process called synapsis that is essential for CO formation in many eukaryotes. Here, we describe the spatial organization of the transverse filaments in (ZYP1) and show it to be evolutionary conserved. Read More

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Is Required for Accurate Double-Strand Break Repair During Maize Male Meiosis.

Front Plant Sci 2021 26;12:626528. Epub 2021 Feb 26.

Ministry of Education Key Laboratory of Crop Heterosis and Utilization, National Maize Improvement Center of China, College of Agronomy and Biotechnology, China Agricultural University, Beijing, China.

RAD17, a replication factor C (RFC)-like DNA damage sensor protein, is involved in DNA checkpoint control and required for both meiosis and mitosis in yeast and mammals. In plant, the meiotic function of was only reported in rice so far. Here, we identified and characterized the homolog in maize. Read More

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February 2021

Insulinase-like Protease 1 Contributes to Macrogamont Formation in Cryptosporidium parvum.

mBio 2021 03 9;12(2). Epub 2021 Mar 9.

Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, USA

The apicomplexan parasite contains an expanded family of 22 insulinase-like proteases (INS), a feature that contrasts with their otherwise streamlined genome. Here, we examined the function of INS1, which is most similar to the human insulinase protease that cleaves a variety of small peptide substrates. INS1 is an M16A clan member and contains a signal peptide, an N-terminal domain with the HXXEH active site, followed by three inactive domains. Read More

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A neural mA/Ythdf pathway is required for learning and memory in Drosophila.

Nat Commun 2021 03 5;12(1):1458. Epub 2021 Mar 5.

Department of Developmental Biology, Sloan-Kettering Institute, New York, NY, USA.

Epitranscriptomic modifications can impact behavior. Here, we used Drosophila melanogaster to study N-methyladenosine (mA), the most abundant modification of mRNA. Proteomic and functional analyses confirm its nuclear (Ythdc1) and cytoplasmic (Ythdf) YTH domain proteins as major mA binders. Read More

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A Role for Sigma Factor C in Copper Nutritional Immunity.

Int J Mol Sci 2021 Feb 20;22(4). Epub 2021 Feb 20.

Department of Infectious Diseases, College of Veterinary Medicine, University of Georgia, Athens, GA 30602, USA.

Sigma factor C (SigC) contributes to virulence in various animal models, but the stress response coordinated by this transcription factor was undefined. The results presented here indicate that SigC prevents copper starvation. Whole genome expression studies demonstrate short-term (4-h) induction of , controlled from a tetracycline-inducible promoter, upregulates and genes in the nonribosomal peptide synthase () operon. Read More

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February 2021

Germ granule dysfunction is a hallmark and mirror of Piwi mutant sterility.

Nat Commun 2021 03 3;12(1):1420. Epub 2021 Mar 3.

Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.

In several species, Piwi/piRNA genome silencing defects cause immediate sterility that correlates with transposon expression and transposon-induced genomic instability. In C. elegans, mutations in the Piwi-related gene (prg-1) and other piRNA deficient mutants cause a transgenerational decline in fertility over a period of several generations. Read More

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Importin-9 regulates chromosome segregation and packaging in Drosophila germ cells.

J Cell Sci 2021 Apr 15;134(7). Epub 2021 Apr 15.

Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Germ cells undergo distinct nuclear processes as they differentiate into gametes. Although these events must be coordinated to ensure proper maturation, the stage-specific transport of proteins in and out of germ cell nuclei remains incompletely understood. Our efforts to genetically characterize Drosophila genes that exhibit enriched expression in germ cells led to the finding that loss of the highly conserved Importin β/karyopherin family member Importin-9 (Ipo9, herein referring to Ranbp9) results in female and male sterility. Read More

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Molecular profile of KRAS G12C-mutant colorectal and non-small-cell lung cancer.

BMC Cancer 2021 Feb 25;21(1):193. Epub 2021 Feb 25.

Progenética, Grupo Pardini, Vespaziano, Brazil.

Background: KRAS is the most frequently mutated oncogene in cancer, however efforts to develop targeted therapies have been largely unsuccessful. Recently, two small-molecule inhibitors, AMG 510 and MRTX849, have shown promising activity in KRAS G12C-mutant solid tumors. The current study aims to assess the molecular profile of KRAS G12C in colorectal (CRC) and non-small-cell lung cancer (NSCLC) tested in a clinical certified laboratory. Read More

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February 2021

Disruption of egg-specific protein causes female sterility in Bombyx mori.

Insect Sci 2021 Feb 24. Epub 2021 Feb 24.

Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Sciences, Shanghai Institute of Plant Physiology and Ecology, Chinese Academy of Sciences, Shanghai, 200032, China.

Yolk proteins are the main source of nutrients during embryonic and early larval development in oviparous animals. Therefore, vitellogenesis is crucial for reproduction. The silkworm, Bombyx mori, is a model lepidopteran insect in which there are three yolk proteins: vitellin, 30-kDa protein, and egg-specific protein (Esp). Read More

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February 2021

Systematic functional analysis of Leishmania protein kinases identifies regulators of differentiation or survival.

Nat Commun 2021 02 23;12(1):1244. Epub 2021 Feb 23.

York Biomedical Research Institute, University of York, York, UK.

Differentiation between distinct stages is fundamental for the life cycle of intracellular protozoan parasites and for transmission between hosts, requiring stringent spatial and temporal regulation. Here, we apply kinome-wide gene deletion and gene tagging in Leishmania mexicana promastigotes to define protein kinases with life cycle transition roles. Whilst 162 are dispensable, 44 protein kinase genes are refractory to deletion in promastigotes and are likely core genes required for parasite replication. Read More

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February 2021

Experimental Methodologies to Visualize Early Cell Biology in Zebrafish Embryos.

Methods Mol Biol 2021 ;2218:195-208

Department of Biological Sciences, Tata Institute of Fundamental Research, Mumbai, India.

For organisms to function normally, biological molecules must work at the correct time in the right cells and within the right intracellular compartments of cells. Biological research relies heavily on discovering the cellular locations at which such molecular interactions occur. A mainstay technique in this process of discovery is the visualization of locations of proteins in cells and tissues, known as immunocytochemistry and immunohistochemistry, respectively. Read More

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The Luteinizing Hormone Receptor Knockout Mouse as a Tool to Probe the In Vivo Actions of Gonadotropic Hormones/Receptors in Females.

Endocrinology 2021 May;162(5)

Institute of Reproductive and Developmental Biology, Department of Metabolism, Digestion and Reproduction, Imperial College London, London W12 0NN, UK.

Mouse models with altered gonadotropin functions have provided invaluable insight into the functions of these hormones/receptors. Here we describe the repurposing of the infertile and hypogonadal luteinizing hormone receptor (LHR) knockout mouse model (LuRKO), to address outstanding questions in reproductive physiology. Using crossbreeding strategies and physiological and histological analyses, we first addressed the physiological relevance of forced LHR homomerization in female mice using BAC expression of 2 ligand-binding and signaling deficient mutant LHR, respectively, that have previously shown to undergo functional complementation and rescue the hypogonadal phenotype of male LuRKO mice. Read More

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