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BACKGROUND: Virescent mutation broadly exists in plants and is an ideal experimental material to investigate regulatory mechanisms underlying chlorophyll synthesis, photosynthesis and plant growth. Up to date, the molecular mechanisms in two virescent mutations have been clarified in cottons (Gossypiuma hirsutum). A virescent mutation has been found in the cotton strain Sumian 22, and the underlying molecular mechanisms have been studied. METHODS: The virescent mutant and wild type (WT) of Sumian 22 were cross-bred, and the F1 population were self-pollinated to calculate the segregation ratio. Green and yellow leaves from F2 populations were subjected to genome sequencing and bulked-segregant analysis was performed to screen mutations. Real-time quantitative PCR (RT-qPCR) were performed to identify genes in relations to chlorophyll synthesis. Intermediate products for chlorophyll synthesis were determined to validate the RT-qPCR results. RESULTS: The segregation ratio of green and virescent plants in F2 population complied with 3:1. Compared with WT, a 0.34 Mb highly mutated interval was identified on the chromosome D10 in mutant, which contained 31 genes. Among them, only ABCI1 displayed significantly lower levels in mutant than in WT. Meanwhile, the contents of Mg-protoporphyrin IX, protochlorophyllide, chlorophyll a and b were all significantly lower in mutant than in WT, which were consistent with the inhibited levels of ABCI1. In addition, a mutation from A to T at the -317 bp position from the start codon of ABCI1 was observed in the genome sequence of mutant. CONCLUSIONS: Inhibited transcription of ABCI1 might be the mechanism causing virescent mutation in Sumian 22 cotton, which reduced the transportation of protoporphyrin IX to plastid, and then inhibited Mg-protoporphyrin IX, Protochlorophyllide and finally chlorophyll synthesis. These results provided novel insights into the molecular mechanisms underlying virescent mutation in cotton.
Assuntos
Melhoramento Vegetal , Folhas de Planta , Clorofila , Clorofila A , Mapeamento Cromossômico , Mutação , FenótipoRESUMO
BACKGROUND: The role of DAXX in ovarian cancer development and metastasis has not been investigated before now. RESULTS: Overexpression of DAXX enhanced ovarian cancer cell proliferation, colony formation, and migration, whereas Daxx depletion had the opposite effects. CONCLUSION: DAXX promotes ovarian cancer cell proliferation and chemoresistance. SIGNIFICANCE: ModulatingDAXXmay be an effective strategy for preventing the recurrence and chemoresistance of ovarian cancers. Understanding the genes involved in apoptosis and DNA damage responses may improve therapeutic strategies for ovarian cancer. The death domain-associated protein DAXX can be either a pro-apoptotic or an anti-apoptotic factor, depending on the cell type and context. In this study, we found that DAXX was highly expressed in human ovarian surface epithelial tumors but not in granulosa cell tumors. In cultured ovarian cancer cells, DAXX interacted with promyelocytic leukemia protein (PML) and localized to subnuclear domains (so-called PML nuclear bodies). A role for DAXX in ovarian cancer cell proliferation, metastasis, and radio/chemoresistance was examined. Overexpression of DAXX enhanced multiple ovarian cancer cell lines' proliferation, colony formation, and migration, whereas Daxx depletion by RNA interference had the opposite effects. When transplanted into nude mice, ovarian cancer cells that overexpressed DAXX displayed enhanced tumorigenesis capability in vivo, whereas Daxx depletion inhibited tumor development. Importantly, Daxx induced tumorigenic transformation of normal ovarian surface epithelial cells. Daxx also protected ovarian cancer cells against x-irradiation- and chemotherapy-induced DNA damage by interacting with PML. Taken together, our results suggest that DAXX is a novel ovarian cancer oncogene that promotes ovarian cancer cell proliferation and chemoresistance in ovarian cancer cells. Thus, modulating DAXX-PML nuclear body activity may be an effective strategy for preventing the recurrence and chemoresistance of ovarian cancers.
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Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Cistadenoma Seroso/metabolismo , Resistencia a Medicamentos Antineoplásicos , Proteínas Nucleares/metabolismo , Neoplasias Ovarianas/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Animais , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Sobrevivência Celular , Transformação Celular Neoplásica/metabolismo , Proteínas Correpressoras , Cistadenoma Seroso/tratamento farmacológico , Cistadenoma Seroso/secundário , Dano ao DNA , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Feminino , Expressão Gênica , Humanos , Camundongos , Camundongos Nus , Chaperonas Moleculares , Proteínas Nucleares/genética , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/patologia , Ovário/metabolismo , Ovário/patologia , Proteína da Leucemia Promielocítica , Tolerância a Radiação , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Ensaios Antitumorais Modelo de XenoenxertoRESUMO
Eukaryotic translation initiation factor 4E (eIF4E), which plays a pivotal role in initiating translation in eukaryotic organisms, is often hijacked by the viral genome-linked protein to facilitate the infection of potyviruses. In this study, we found that the naturally occurring amino acid substitution D71G in eIF4E is widely present in potyvirus-resistant watermelon accessions and disrupts the interaction between watermelon eIF4E and viral genome-linked protein of papaya ringspot virus-watermelon strain, zucchini yellow mosaic virus or watermelon mosaic virus. Multiple sequence alignment and protein modelling showed that the amino acid residue D71 located in the cap-binding pocket of eIF4E is strictly conserved in many plant species. The mutation D71G in watermelon eIF4E conferred resistance against papaya ringspot virus-watermelon strain and zucchini yellow mosaic virus, and the equivalent mutation D55G in tobacco eIF4E conferred resistance to potato virus Y. Therefore, our finding provides a potential precise target for breeding plants resistant to multiple potyviruses.
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Aminoácidos , Potyvirus , Sequência de Aminoácidos , Substituição de Aminoácidos/genética , Aminoácidos/metabolismo , Fator de Iniciação 4E em Eucariotos/genética , Fator de Iniciação 4E em Eucariotos/metabolismo , Doenças das Plantas/genética , Potyvirus/genética , Potyvirus/metabolismo , Citrullus/virologiaRESUMO
ABSTRACT: Male infertility is a worldwide health issue, affecting 8%-12% of the global population. Oligoasthenoteratozoospermia (OAT) represents a severe type of male infertility, characterized by reduced sperm count and motility and an increased frequency of sperm with aberrant morphology. Using whole-exome sequencing, this study identified a novel missense mutation (c.848C>A, p.A283E) in the coiled-coil domain-containing 34 gene (CCDC34) in a consanguineous Pakistani family. This rare mutation was predicted to be deleterious and to affect the protein stability. Hematoxylin and eosin staining of spermatozoa from the patient with OAT revealed multiple morphological abnormalities of the flagella and transmission electron microscopy indicated axonemal ultrastructural defects with a lack of outer dynein arms. These findings indicated that CCDC34 plays a role in maintaining the axonemal ultrastructure and the assembly or stability of the outer dynein arms, thus expanding the phenotypic spectrum of CCDC34 missense mutations.
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We examined the antifungal characteristics of linalool against Botrytis cinerea using plate inhibition assay and spore germination assay, and assessed the capacity of linalool in controlling tomato gray mold disease via tomato pot inoculation assay. The results showed that linalool exhibited strong inhibitive effects on mycelial growth of B. cinerea, with an EC50 value of 0.581 mL·L-1. In the spore germination test, linalool treatment inhibited spore germination in a dose-dependent manner. The electric conductivity and the malondialdehyde (MDA) contents were significantly increased in linalool-treated B. cinerea than that of the control, indicating that linalool induced oxidative damage and destroyed the cell membrane integrity in B. cinerea. The activities of the superoxide dismutase (SOD), catalase (CAT), and peroxidase (POD) in the linalool-treated B. cinerea were decreased significantly by 27.4%, 68.9% and 26.0%, respectively, suggesting that linalool inhibited the antioxidant activity of B. cinerea. In the pot experiment, the diameter of lesions in linalool-treated tomatoes was significantly smaller than that of the control. The activities of SOD, POD, CAT, polyphenol oxidase, and phenylalnine ammonialyase in the linalool-treated tomatoes increased, while the MDA content decreased, suggesting that linalool could alleviate the oxidative damage caused by B. cinerea and promote plant disease resistance. In summary, linalool had inhibitory effect on the growth of B. cinerea and could control gray mold disease in tomatoes. These findings could lay the foundation for developing bota-nical antifungal agents for management of tomato gray mold disease.
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Solanum lycopersicum , Botrytis , Superóxido Dismutase , Doenças das Plantas/prevenção & controle , Doenças das Plantas/microbiologiaRESUMO
Supramolecular carrier-mediated chemotherapy is a highly attractive strategy for targeted drug delivery. In this study, four novel biotin-linked calix[4]arenes BPCA1-BPCA4 have been rationally designed to construct nano-complex with doxorubicin. The in vitro and in vivo assessments reveal that BPCA4-DOX with excellent stability are capable of affording significantly superior anti-tumor activity and lower side effects.
Assuntos
Calixarenos , Micelas , Biotina , Doxorrubicina/farmacologia , Sistemas de Liberação de Medicamentos , Portadores de Fármacos , Linhagem Celular TumoralRESUMO
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.
Assuntos
Infertilidade Masculina , Humanos , Masculino , Consanguinidade , Paquistão , Infertilidade Masculina/metabolismo , Sêmen/metabolismo , Cauda do Espermatozoide/metabolismo , Espermatozoides/metabolismo , Flagelos/genética , Flagelos/metabolismo , Flagelos/patologia , MutaçãoRESUMO
Bisphenol A (BPA), a synthetic additive used to harden polycarbonate plastics and epoxy resin, is ubiquitous in our everyday environment. Many studies have indicated detrimental effects of BPA on the mammalian reproductive abilities. This study is aimed to test the potential effects of BPA on methylation of imprinted genes during oocyte growth and meiotic maturation in CD-1 mice. Our results demonstrated that BPA exposure resulted in hypomethylation of imprinted gene Igf2r and Peg3 during oocyte growth, and enhanced estrogen receptor (ER) expression at the levels of mRNA and protein. The relationship between ER expression and imprinted gene hypomethylation was substantiated using an ER inhibitor, ICI182780. In addition, BPA promoted the primordial to primary follicle transition, thereby speeding up the depletion of the primordial follicle pool, and suppressed the meiotic maturation of oocytes because of abnormal spindle assembling in meiosis I. In conclusion, neonatal exposure to BPA inhibits methylation of imprinted genes during oogenesis via the ER signaling pathway in CD-1 mice.
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Metilação de DNA/efeitos dos fármacos , Impressão Genômica/genética , Fatores de Transcrição Kruppel-Like/genética , Oócitos/metabolismo , Fenóis/toxicidade , Receptor IGF Tipo 2/genética , Receptores de Estrogênio/metabolismo , Animais , Compostos Benzidrílicos , Metilação de DNA/genética , Feminino , Impressão Genômica/efeitos dos fármacos , Fatores de Transcrição Kruppel-Like/efeitos dos fármacos , Camundongos , Oócitos/efeitos dos fármacos , Oócitos/crescimento & desenvolvimento , Oogênese/efeitos dos fármacos , Oogênese/genética , Folículo Ovariano/efeitos dos fármacos , Folículo Ovariano/fisiologia , Receptor IGF Tipo 2/efeitos dos fármacos , Receptores de Estrogênio/efeitos dos fármacos , Transdução de SinaisRESUMO
OBJECTIVE: To analyze defective homologous chromosomal recombination in Han Chinese azoospermic patients. METHODS: Testicular biopsy samples from 7 healthy controls and 7 Han Chinese azoospermic patients including 2 obstructive azoospermia (OA group) and 5 non-obstructive azoospermia (NOA group) were analyzed. Immunofluorescence staining was performed to categorize early stage cells at meiosis prophase and to analyze chromosome pairing and recombination of pachytene spermatocyte. Newly developed meiotic proteins antibodies (anti-SCP3, anti-synaptonemal complex proteins 3, anti-MLH1, anti-Mut-L Homolog 1, anti-CREST, chromosome centromere antibody) were used to identify synaptonemal complex (anti-SCP3), recombination sites (anti-MLH1) and centromere (anti-CREST), respectively. Staging of spermatocyte was determined according to SCP3 formation progression. Qualitative data were compared by a Chi-square test, and ANOVA was used to analyze quantitative data. RESULTS: Respectively, 2346 and 2932 spermatocytes were categorized in the controls and azoospermic patients. The proportions of zygotene cells in both OA group and NOA group were significantly higher than that of the control group. Investigation of 1967 pachytene cells from the controls and 354 pachytene cells from azoospermic patients indicated that the mean MLH1 foci per pachytene cell of NOA group was statistically lower than that of the controls. Compared with the controls, incomplete synaptonemal complexes cells (containing gap and/or split) were significantly increased in the NOA group. CONCLUSION: Delayed meiosis prophase is relatively common in azoospermic patients, and changes in quantity and distribution of recombination foci may be the cause for spermatogenesis arrest in Han Chinese population.
Assuntos
Azoospermia/genética , Meiose/genética , Recombinação Genética , Adulto , Povo Asiático , Azoospermia/metabolismo , Azoospermia/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Espermatócitos/metabolismo , Complexo Sinaptonêmico/genética , Adulto JovemRESUMO
Since Takahashi and Yamanaka first generated induced pluripotent stem (iPS) cells from mouse fibroblasts successfully in 2006, iPS cells have rapidly become a new hotspot in the field of stem cells research because of their broad potential application prospects. Meanwhile, more and more attentions are paid to the genetic safety of iPS cells. This article summarizes recent findings on genetic safety of iPS cells and reviews the possible causes leading to genetic instability of iPS cells. Hopefully, this review is helpful to improve the induction of iPS cells and obtain genetically safe iPS cells.
Assuntos
Técnicas Genéticas/efeitos adversos , Células-Tronco Pluripotentes Induzidas/metabolismo , Segurança , Animais , Técnicas de Cultura de Células , Reprogramação Celular/genética , Humanos , Células-Tronco Pluripotentes Induzidas/citologiaRESUMO
Cystic fibrosis (CF) is one of the most common recessive genetic diseases, with a wide spectrum of phenotypes, ranging from infertility to severe pulmonary disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are considered the main genetic cause for CF. In this study, we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens (CUAVD), and one female patient diagnosed with congenital absence of the uterus (CAU). Testicular biopsy of one patient was performed, and hematoxylin and eosin (H and E) staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids, indicating obstructive azoospermia. To explore the underlying genetic factor in this familial disorder, we therefore performed whole-exome sequencing (WES) on all available family members. WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients (two CUAVD patients carried p.H949Y and p.L997F, and one CUAVD and the female CAU patient carried p.H949Y and p.I148T). All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing. Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.
Assuntos
Azoospermia , Fibrose Cística , Azoospermia/genética , Azoospermia/patologia , Consanguinidade , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Feminino , Humanos , Irã (Geográfico) , Masculino , Mutação , Anormalidades Urogenitais , Útero/anormalidades , Ducto Deferente/anormalidadesRESUMO
Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.
Assuntos
Astenozoospermia , Dineínas , Astenozoospermia/genética , Astenozoospermia/patologia , Dineínas/genética , Homozigoto , Humanos , Masculino , Proteínas Associadas aos Microtúbulos , Mutação , Mutação de Sentido Incorreto , Cauda do Espermatozoide/metabolismoRESUMO
Faithful meiotic recombination is essential for the segregation of homologous chromosomes and the formation of normal haploid gametes. Little is known about the mechanism of meiotic recombination in human germ cells. MLHl (a DNA mismatch repair protein) foci on synaptonemal complexes (SCs) at prophase I of meiosis can be used to examine recombination frequency. In 10 fertile men, the mean number of MLH1 foci per cell in all donors was 49.4 with a range from 33 to 63. There was significant variation in the recombination frequency found among 10 normal individuals: the mean frequencies of chromosomal recombination foci ranged from 47 to 52.7. The bivalents without recombination focus were rare, with a frequency of only 0.4%. Thus, achiasmate chromosomes appeared to be rare in human male meiosis. Spearman correlation analysis between age and the frequencies of recombination foci failed to get any significantly statistical correlation, suggesting that aging contributes nothing to the variation among individuals.
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Envelhecimento/genética , Meiose , Recombinação Genética , Espermatócitos/citologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Espermatócitos/enzimologia , Espermatócitos/crescimento & desenvolvimento , Espermatócitos/metabolismoRESUMO
The excessive use of chemical fertilizer on vegetables in protected facilities resulted in soil degradation, serious soil-borne diseases, and lower vegetable yield and quality. We examined the effects of vermicompost on soil nutrient, enzyme activities, microbial quantity, tomato growth, yield and quality in greenhouse. The results showed that both broadcast and furrow application of vermicompost improved soil environment, and significantly increased contents of soil organic matter and soil nutrients (nitrogen, phosphorus and potassium). Vermicompost application significantly increased sucrase and catalase activities, abundance of bacteria and actinomycetes, and decreased the abundance of fungi in the soil. Furrow application but not the broadcast application promoted the growth of tomato plants. The vermicompost promoted root activities and leaf photosynthesis, increased chlorophyll, nitrogen and potassium contents in leaves. Broadcast and furrow application of vermicompost significantly increased tomato yield by 22.7% and 32.6%, respectively. Furrow application increased the contents of soluble protein, soluble sugar, vitamin C and titratable acid by 66.1%, 11.0%, 122.6% and 29.9%, respectively, and decreased nitrate content in tomato fruits by 65.7%. However, broadcast application did not affect fruit quality.
Assuntos
Solo , Solanum lycopersicum , Fertilização , Fertilizantes , NitrogênioRESUMO
Meiosis is an essential step in gametogenesis which is the key process in sexually reproducing organisms as meiotic aberrations may result in infertility. In meiosis, programmed DNA double-strand break (DSB) formation is one of the fundamental processes that are essential for maintaining homolog interactions and correcting segregation of chromosomes. Although the number and distribution of meiotic DSBs are tightly regulated, still abnormalities in DSB formation are known to cause meiotic arrest and infertility. This review is a detailed account of molecular bases of meiotic DSB formation, its evolutionary conservation, and variations in different species. We further reviewed the mutations of DSB formation genes in association with human infertility and also proposed the future directions and strategies about the study of meiotic DSB formation.
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Quebras de DNA de Cadeia Dupla , Infertilidade/genética , Meiose/genética , Reparo do DNA/efeitos dos fármacos , Reparo do DNA/genética , Humanos , Meiose/fisiologiaRESUMO
The CCR4-NOT complex is a major mRNA deadenylase in eukaryotes, comprising the catalytic subunits CNOT6/6L and CNOT7/8, as well as CNOT4, a regulatory subunit with previously undetermined functions. These subunits have been hypothesized to play synergistic biochemical functions during development. Cnot7 knockout male mice have been reported to be infertile. In this study, viable Cnot6/6l double knockout mice are constructed, and the males are fertile. These results indicate that CNOT7 has CNOT6/6L-independent functions in vivo. It is also demonstrated that CNOT4 is required for post-implantation embryo development and meiosis progression during spermatogenesis. Conditional knockout of Cnot4 in male germ cells leads to defective DNA damage repair and homologous crossover between X and Y chromosomes. CNOT4 functions as a previously unrecognized mRNA adaptor of CCR4-NOT by targeting mRNAs to CNOT7 for deadenylation of poly(A) tails, thereby mediating the degradation of a subset of transcripts from the zygotene to pachytene stage. The mRNA removal promoted by the CNOT4-regulated CCR4-NOT complex during the zygotene-to-pachytene transition is crucial for the appropriate expression of genes involved in the subsequent events of spermatogenesis, normal DNA double-strand break repair during meiosis, efficient crossover between X and Y chromosomes, and ultimately, male fertility.
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Cromossomos/metabolismo , Reparo do DNA , Células Germinativas/fisiologia , Meiose , Estabilidade de RNA , Ribonucleases/metabolismo , Espermatogênese , Fatores de Transcrição/metabolismo , Animais , Dano ao DNA , Desenvolvimento Embrionário/fisiologia , Exorribonucleases/genética , Exorribonucleases/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Fatores de Transcrição/genéticaRESUMO
Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
Assuntos
Infertilidade Masculina/diagnóstico , Mutação com Perda de Função/genética , Proteínas dos Microtúbulos/genética , Cauda do Espermatozoide/fisiologia , Adolescente , Adulto , Humanos , Infertilidade Masculina/epidemiologia , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologiaRESUMO
The novel coronavirus disease (COVID-19) pandemic is emerging as a global health threat and shows a higher risk for men than women. Thus far, the studies on andrological consequences of COVID-19 are limited. To ascertain the consequences of COVID-19 on sperm parameters after recovery, we recruited 41 reproductive-aged male patients who had recovered from COVID-19, and analyzed their semen parameters and serum sex hormones at a median time of 56 days after hospital discharge. For longitudinal analysis, a second sampling was obtained from 22 of the 41 patients after a median time interval of 29 days from first sampling. Compared with controls who had not suffered from COVID-19, the total sperm count, sperm concentration, and percentages of motile and progressively motile spermatozoa in the patients were significantly lower at first sampling, while sperm vitality and morphology were not affected. The total sperm count, sperm concentration, and number of motile spermatozoa per ejaculate were significantly increased and the percentage of morphologically abnormal sperm was reduced at the second sampling compared with those at first in the 22 patients examined. Though there were higher prolactin and lower progesterone levels in patients at first sampling than those in controls, no significant alterations were detected for any sex hormones examined over time following COVID-19 recovery in the 22 patients. Although it should be interpreted carefully, these findings indicate an adverse but potentially reversible consequence of COVID-19 on sperm quality.
Assuntos
COVID-19/fisiopatologia , SARS-CoV-2 , Sêmen/fisiologia , Espermatozoides/fisiologia , Adulto , Astenozoospermia/virologia , COVID-19/complicações , China , Hormônios Esteroides Gonadais/sangue , Humanos , Masculino , Progesterona/sangue , Prolactina/sangue , Análise do Sêmen , Contagem de Espermatozoides , Motilidade dos Espermatozoides , Espermatozoides/anormalidades , Fatores de TempoRESUMO
Greenhouse gas emissions from agricultural soils contribute substantially to global atmospheric composition. Nitrous oxide (N2O) is one important greenhouse gas induces global warming. Nitrification inhibitors (NI) or biochar can be effective soil N2O emission mitigation strategies for agricultural soils. However, due to differences in crop physiological traits or agricultural management, the effectiveness of mitigation strategies varies among agricultural systems. Camellia oleifera is a woody oil plant widely grown and requires intensive N input, which will potentially increase N2O emissions. Thereby, mitigation of N2O emissions from C. oleifera field soil is vital for sustainable C. oleifera development. Besides NI, incorporation of C. oleifera fruit shell-derived biochar into its soil will benefit waste management and simultaneous mitigation of N2O emissions but this has not been investigated. Here, we conducted two studies to examine effects of biochar addition and NI (dicyandiamide, DCD) application on N2O emissions from C. oleifera field soil with different N (urea or NH4NO3) and incubation temperatures. Biochar effects on nitrification rates varied among N treatments. Biochar applied in combination with DCD further reduced nitrification rates (for urea treatment, decreased from 1.1 to 0.3 mg kg-1 day-1). Biochar addition consistently increased soil N2O emissions (for urea treatment, increased from 0.03 to 0.08 ng g-1 h-1) and their temperature sensitivity. DCD application reduced soil N2O emissions with greater reductions with urea application. In future cultivation of intensively managed C. oleifera gardens, NI should be applied to mitigate N2O emissions if biochar is added, especially when urea is used.
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Camellia , Carvão Vegetal , Gases de Efeito Estufa/análise , Guanidinas , Óxido Nitroso/análise , Agricultura/métodos , Camellia/química , Fertilizantes , Nitrificação/efeitos dos fármacos , Solo/química , TemperaturaRESUMO
To get optimal nitrogen (N), phosphorus (P2O5) and potassium (K2O) concentrations range for high quality and yield of eggplant with vermiculite as cultivation substrate, three factors and quadratic saturation D-optimal regression (310) were used to establish a ternary quadratic mathematical model with N, P2O5 and K2O concentrations as independent variables and eggplant yield and quality as objective functions. The results showed that yield and quality of eggplants were significantly influenced by N, P2O5 and K2O concentrations. The yield was most influenced by K2O concentration, and followed by N and then P2O5. The quality was also most influenced by K2O concentration, and followed by P2O5 and then N. There were significant interactive effects of N+P2O5, N+K2O and P2O5+K2O on yield, and significant interaction of N+K2O on eggplant quality. Under lower concentrations, the yield and quality of eggplants enhanced with the increasing N, P2O5 and K2O concentrations. When the nutrient concentrations exceeded a threshold, both yield and quality decreased. According to computer simulations, the yield could reach to 3600 g·plant-1 when the fertilization schemes were N 16.0-20.0 mmol·L-1, P2O5 2.2-2.6 mmol·L-1 and K2O 9.9-12.9 mmol·L-1; the fertilization scheme needed to obtain a comprehensive quality score of higher than 90 were N 18.0-21.1 mmol·L-1, P2O5 1.9-2.6 mmol·L-1 and K2O 10.6-13.3 mmol·L-1. In summary, fertilization scheme of high yield (43.2 kg·plot-1) and high quality(comprehensive score of higher than 90) of eggplants were N 18.0-20.0 mmol·L-1, P2O5 2.2-2.6 mmol·L-1, K2O 10.6-12.9 mmol·L-1, with an appropriate N, P2O5 and K2O proportion of 1:0.13:0.62.