Meiosis

减数分裂
  • 文章类型: Case Reports
    尽管随机减数分裂应防止后代性别比例的兼性调整,理论预测,女性应该生产更多的性别与更高的生殖价值。我们报道了一例在草地上操纵后代性别比例的案例。由于社交一夫多妻制和配对受精的潜力,身体状况良好的男性比女性具有更高的生殖价值。另一方面,当地人口统计学会影响草w的生殖策略,因为男性的丰度会影响社会一夫多妻制和配对亲子关系频率。我们评估了女性是否会对成年性别比和雏鸟身体状况产生偏见(代表女性生产高质量男性的前景)。当男性人口较少时(女性偏向成人的性别比例),女性会抚养更多的男性后代。然而,我们发现雏鸟的身体状况与育龄性别比之间没有关系,这表明,当能够在更好的身体状况下饲养雏鸟时,雌性不会使育苗的性别比例偏向雄性。一起来看,我们的结果提供了第一个暗示性证据,表明雌鸟可以根据成年性别比来操纵其后代的性别比。
    Although random meiosis should prevent the facultative adjustment of offspring sex ratio, theory predicts that females should produce more of the sex with the higher reproductive value. We reported a case of offspring sex ratio manipulation in grass wrens Cistothorus platensis. Males in better body condition would have higher reproductive value than females due to the potential for social polygyny and extra-pair fertilizations. On the other hand, local demography influences reproductive strategies in grass wrens as male abundance affects both social polygyny and extra-pair paternity frequencies. We evaluated whether females bias their brood sex ratio in response to adult sex ratio and nestling body condition (a proxy for female\'s prospects of producing high-quality males). Females raised more male offspring when males were less abundant in the population (female-biased adult sex ratio). However, we found no relationship between nestling body condition and brood sex ratio, suggesting that females did not bias the brood sex ratio towards males when able to raise nestlings in better body condition. Taken together, our results provide the first suggestive evidence that female birds can manipulate their offspring sex ratio in response to the adult sex ratio.
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  • 文章类型: Review
    无融合生殖被认为是一种潜在的革命性工具,可以以较低的成本和较短的发育时间生产高质量的食物,这是由于通过无融合生殖和孤雌生殖产生的克隆种子。在无融合生殖的二孔类型中,减数分裂重组和减少可以通过避免或失败减数分裂或通过有丝分裂样分裂来避免。这里,我们回顾了关于二倍体孢子的文献,从可追溯到19世纪后期的早期细胞学研究到最近的遗传发现。我们讨论了二倍体发育机制,包括他们的遗产。此外,我们比较了分离控制二倍体孢子的基因所采用的策略与产生形成未减少配子的突变体的策略。如今,长读序列测序和靶向CRISPR/Cas诱变技术的显著改进证明了对天然二倍体孢子基因将很快被鉴定的期望。他们的鉴定将回答诸如无融合生殖表型如何叠加到性途径上以及二倍体孢子基因如何进化的问题。这些知识将有助于无融合生殖在农业中的应用。
    Apomixis is considered a potentially revolutionary tool to generate high-quality food at a lower cost and shorter developmental time due to clonal seed production through apomeiosis and parthenogenesis. In the diplosporous type of apomixis, meiotic recombination and reduction are circumvented either by avoiding or failing meiosis or by a mitotic-like division. Here, we review the literature on diplospory, from early cytological studies dating back to the late 19th century to recent genetic findings. We discuss diplosporous developmental mechanisms, including their inheritance. Furthermore, we compare the strategies adopted to isolate the genes controlling diplospory with those to produce mutants forming unreduced gametes. Nowadays, the dramatically improved technologies of long-read sequencing and targeted CRISPR/Cas mutagenesis justify the expectation that natural diplospory genes will soon be identified. Their identification will answer questions such as how the apomictic phenotype can be superimposed upon the sexual pathway and how diplospory genes have evolved. This knowledge will contribute to the application of apomixis in agriculture.
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  • 文章类型: Case Reports
    睾丸减数分裂细胞中的基因表达以强烈的转录活性和可变剪接为特征。这些过程主要由生殖细胞中强烈表达的RNA结合蛋白控制。任何这些蛋白质的功能受损都会导致减数分裂缺陷,从而导致严重的男性不育。这里,我们已经鉴定了RNA结合基序蛋白中的纯合移码突变(NM_014469.4:c.301dup;p.Ser101LysfsTer29),由于减数分裂停滞而导致无精子症的男性中的X连锁样2(RBMXL2)基因。众所周知,RBMXL2对于保护小鼠睾丸的减数分裂转录组至关重要,我们假设这种变异会导致隐匿性剪接位点中毒.为了确定变体对精子发生的影响,我们证实了患者睾丸组织中不存在RBMXL2蛋白,然后证实了已知在减数分裂阻滞的rbmxl2敲除小鼠中发生改变的几种精子发生蛋白(例如,具有卷曲螺旋结构域的减数分裂特异性蛋白)的异常表达.我们的结果表明RBMXL2在精子发生中的功能在哺乳动物中是保守的。我们假设RBMXL2基因中的有害变异可导致男性不育和完全减数分裂停滞,由于隐匿性剪接位点中毒对基因表达的破坏。
    Gene expression in meiotic cells in the testis is characterized by intense transcriptional activity and alternative splicing. These processes are mainly controlled by RNA-binding proteins expressed strongly in germ cells. Functional impairments in any of these proteins\' functions can lead to defects in meiosis and thus severe male infertility. Here, we have identified a homozygous frameshift mutation (NM_014469.4:c.301dup; p.Ser101LysfsTer29) in the RNA-binding motif protein, X-linked like 2 (RBMXL2) gene in a man with an azoospermia due to meiotic arrest. As RBMXL2 is known to be crucial for safeguarding the meiotic transcriptome in mice testes, we hypothesized that this variant leads to cryptic splice site poisoning. To determine the variant\'s impact on spermatogenesis, we confirmed the absence of RBMXL2 protein in the patient\'s testis tissue and then evidenced abnormal expression of several spermatogenesis proteins (e.g. meiosis-specific with coiled-coil domain) known to be altered in rbmxl2 knock-out mice with meiotic arrest. Our results indicate that RBMXL2\'s function in spermatogenesis is conserved in mammals. We hypothesize that deleterious variant in the RBMXL2 gene can result in male infertility and complete meiotic arrest, due to the disruption of gene expression by cryptic splice site poisoning.
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  • 文章类型: Journal Article
    Carriers of balanced constitutional reciprocal translocations usually present a normal phenotype, but often show reproductive disorders. For the first time in pigs, we analyzed the meiotic process of an autosome-autosome translocation associated with azoospermia. Meiotic process analysis revealed the presence of unpaired autosomal segments with histone γH2AX accumulation sometimes associated with the XY body. Additionally, γH2AX signals were observed on apparently synapsed autosomes other than the SSC1 or SSC15, as previously observed in Ataxia with oculomotor apraxia type 2 patients or knock-out mice for the Senataxin gene. Gene expression showed a downregulation of genes selected on chromosomes 1 and 15, but no upregulation of SSCX genes. We hypothesized that the total meiotic arrest observed in this boar might be due to the silencing of crucial autosomal genes by the mechanism referred to as meiotic silencing of unsynapsed chromatin (MSUC).
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  • 文章类型: Journal Article
    在脊椎动物中,RNA结合蛋白(RBP)死端1(DND1)对于原始生殖细胞(PGC)的存活和细胞身份的维持至关重要。在多个物种中,Dnd1丢失或突变导致规范后不久发生严重的PGC丢失或,在某些物种中,生殖细胞转化为体细胞谱系。由于缺乏可用的抗体,我们对DND1在PGC规格和分化中的作用的研究受到限制。为了解决这个问题,我们使用CRISPR/Cas9基因编辑来建立携带DND1GFP融合等位基因的转基因小鼠系。我们提供了DND1GFP表达的成像分析,表明DND1GFP表达在雄性生殖细胞(MGCs)和雌性生殖细胞(FGCs)之间是异质的。在整个胎儿生命期间在MGCs中检测到DND1GFP,但在减数分裂进入时从FGC中丢失。在产后和成人睾丸中,DND1GFP表达与减数分裂前期精原群体的经典标记相关。在MGC中使用GFP标签进行RNA免疫沉淀(RIP)分析,验证了该转基因作为鉴定DND1体内转录物靶标的工具。DND1GFP小鼠系是分离和分析胚胎和胎儿生殖细胞的新工具,以及产后和成年睾丸的精原细胞。
    In vertebrates, the RNA-binding protein (RBP) dead end 1 (DND1) is essential for primordial germ cell (PGC) survival and maintenance of cell identity. In multiple species, Dnd1 loss or mutation leads to severe PGC loss soon after specification or, in some species, germ cell transformation to somatic lineages. Our investigations into the role of DND1 in PGC specification and differentiation have been limited by the absence of an available antibody. To address this problem, we used CRISPR/Cas9 gene editing to establish a transgenic mouse line carrying a DND1GFP fusion allele. We present imaging analysis of DND1GFP expression showing that DND1GFP expression is heterogeneous among male germ cells (MGCs) and female germ cells (FGCs). DND1GFP was detected in MGCs throughout fetal life but lost from FGCs at meiotic entry. In postnatal and adult testes, DND1GFP expression correlated with classic markers for the premeiotic spermatogonial population. Utilizing the GFP tag for RNA immunoprecipitation (RIP) analysis in MGCs validated this transgenic as a tool for identifying in vivo transcript targets of DND1. The DND1GFP mouse line is a novel tool for isolation and analysis of embryonic and fetal germ cells, and the spermatogonial population of the postnatal and adult testis.
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    文章类型: Journal Article
    Chromosomal behaviour during megasporogenesis and microsporogenesis has been studied in ornamental Delphinium ajacis L. Meiosis in female sex cell initiates later than male. The floral buds which carry egg mother cell (EMC) at diplotene stage has pollen mother cells (PMCs) at tetrad stage of meiosis suggesting protandry. Although the 16 chromosomes formed regular eight bivalents in both the sex cells, they differed in overall chiasma frequency which was 32.95% higher in EMCs and found to be 18.52 ± 2.12 per cell. In PMCs, the average chiasma frequency recorded was 13.93 ± 1.40 per cell. Interestingly, this variation in chiasma frequency was largely confined to the two large bivalents which shared 42.61% chiasma per EMC. The use of Q-Q plot, Box plot and Whisker plot showed departure in the chiasma frequency distributions in EMCs and PMCs from the normal distribution pattern. The difference in chiasma frequency in the two sex cells was significant at all levels as indicated by the low P values of 3.094 × 10-11 obtained from nonparametric test, i.e. Wilcoxon rank-sum test. It is suggested that the two different mechanisms of recombination are operational in the two sex cells, and the sex differences of chiasma frequency could have arisen due to differential epigenetic modifications of the chromatin which pattern the double-strand breaks, and the position and frequency of crossing over visible as chiasmata.
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  • 文章类型: Journal Article
    To develop plants that are more tolerant to drought, marginal soil fertility, and diseases and that satisfy demands for high yield, new cultivars of the tropical fruit papaya (Carica papaya L.) are needed. Nonetheless, in many cases, these traits are available in only wild relatives found throughout Latin America. Understanding meiotic progression may facilitate the introgression of desirable traits into commercial cultivars that maintain high fertility. In this protocol, we describe a practical and simple method to effectively isolate male meiocytes in order to document the behavior of papaya meiotic chromosomes.
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  • 文章类型: Case Reports
    Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoospermic and infertile men.
    This study reported one novel TEX11 mutation (2653G → T, in exon 29, GenBank accession number, NM_031276) in two brothers with azoospermia. This mutation was firstly screened out by whole-exome sequencing (WES) and further verified by amplifying and sequencing the specific exon 29. Surprisingly, the same exonic missense mutation (W856C) was observed in two brothers but not in their mother. Histological analysis of testicular biopsy from both brothers revealed meiotic arrest and no post-meiotic round spermatids and mature spermatozoa were observed in the seminiferous tubules. TEX11 expression was observed strongly in spermatogonia and weakly in spermatocytes, but not in Sertoli cells and interstitial cells.
    We identified one novel TEX11 mutation in two brothers and summarized the literature regarding TEX11 mutations and male infertility. This study and previous literature indicate that TEX11 mutations are closely associated with male infertility, especially azoospermia, although auxiliary clinical analyses are needed to figure out the causes of male infertility.
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  • 文章类型: Journal Article
    目的:本研究的目的是探讨体外受精(IVF)和胞浆内单精子注射(ICSI)后患者受精卵中重复多核(MPN)形成的原因。
    方法:这是一个案例研究。一名患者在IVF和ICSI周期后患有无法解释的原发性不孕症,并反复出现总MPN受精卵。进行了原核形成的延时监测。通过荧光原位杂交(FISH)分析从MPN受精卵发育的胚胎。单细胞RNA-seq分析用于鉴定患者卵母细胞和受精卵的基因表达谱,并将这些数据与正常受精供体的卵母细胞和受精卵的数据进行比较(患者,n=1;捐赠者,n=4)。通过亚马逊选择具有差异表达的卵母细胞特异性基因!
    方法:
    结果:从延时分析,我们观察到在第二极体挤压部位附近形成了多个微核。这些微核迁移,展开,并与男性原核并列,导致多核。这些MPN受精卵都不能发育到胚泡期,和FISH分析显示,在被捕的胚胎中出现了混乱的染色体补体。RNA-seq分析显示,患者与供体卵母细胞和受精卵之间有113个差异表达基因(DEG)。此外,113个DEGs中有25个在卵母细胞和早期胚胎中独特或高表达。从25度开始,三个基因,DYNC2LI1、NEK2和CCNH,它们参与减数分裂和染色体分离过程,通过实时PCR进一步验证。
    结论:我们确定了几个影响原核形成的候选基因是不孕症的新原因。
    OBJECTIVE: The purpose of this study was to investigate the cause of repeated multipronucleus (MPN) formation in zygotes in a patient after both in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI).
    METHODS: This is a case study. A patient had unexplained primary infertility with recurring total MPN zygotes after IVF and ICSI cycles. Time-lapse monitoring of pronucleus formation was carried out. Embryos developed from MPN zygotes were analyzed by fluorescence in situ hybridization (FISH). Single-cell RNA-seq analysis was used to identify gene expression profiles of the patient\'s oocyte and zygote, and these were compared to the data from oocytes and zygotes from donors with normal fertilization (patient, n = 1; donors, n = 4). Oocyte-specific genes with differential expression were selected by the Amazonia!
    METHODS:
    RESULTS: From time-lapse analysis, we observed the formation of multiple micronuclei near the site of the second polar body extrusion. These micronuclei migrated, expanded, and juxtaposed with the male pronucleus leading to a multipronucleus. None of these MPN zygotes could develop to the blastocyst stage, and FISH analysis revealed a chaotic chromosomal complement in the arrested embryos. RNA-seq analysis showed 113 differentially expressed genes (DEGs) between the patient and the donor oocytes and zygotes. Moreover, 25 of the 113 DEGs were unique or highly expressed in oocytes and early embryos. From 25 DEGs, three genes, DYNC2LI1, NEK2, and CCNH, which are involved in meiosis and the chromosome separation process, were further validated by real-time PCR.
    CONCLUSIONS: We identified several candidate genes affecting pronucleus formation as a new cause of infertility.
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  • 文章类型: Case Reports
    背景:成熟的囊性畸胎瘤通常见于卵巢。在10%至15%的病例中,它们是双侧的,一个卵巢中可能存在多发性囊性畸胎瘤。这项研究的目的是阐明单个宿主中卵巢成熟囊性畸胎瘤的发展是异时还是由于自身植入或复发。
    方法:我们报告了一名双侧卵巢成熟囊性畸胎瘤的女性。通过短串联重复(STR)分析研究了这些畸胎瘤的DNA图谱,并通过甲基化敏感的多重连接依赖性探针扩增方法确定了甲基化状态。结果表明,囊性畸胎瘤起源于雌配子发生中减数分裂I的生发囊失败之前的卵原细胞或原代卵母细胞的不同阶段。在PubMed数据库中搜索可能相关的文献。分析双侧或多发性卵巢成熟囊性畸胎瘤的病例。迄今为止,目前还没有报道多发性成熟囊性畸胎瘤的病例,其中使用分子遗传学方法澄清了起源。
    结论:本病例研究的结果提供了卵巢成熟囊性畸胎瘤异时发展的证据,可作为腹腔镜膀胱切除术后患者治疗的参考。
    BACKGROUND: Mature cystic teratomas are usually found in the ovaries. They are bilateral in 10 to 15% of cases and multiple cystic teratomas may be present in one ovary. The aim of this study is to clarify if development of mature cystic teratomas of the ovaries in a single host is metachronous or due to autoimplant or recurrence.
    METHODS: We report a woman with bilateral mature cystic teratomas of the ovaries. DNA profiles of these teratomas were investigated via short tandem repeat (STR) analysis and methylation statuses were determined via methylation sensitive multiplex ligation-dependent probe amplification methods. The results showed that the cystic teratomas originated from different stages of oogonia or primary oocyte before germinal vesicle stage failure of meiosis I in female gametogenesis. Potentially relevant literature was searched in PubMed database. Cases of bilateral or multiple mature cystic teratomas of the ovaries were analyzed. To date, there has been no reported case of multiple mature cystic teratomas in which clarification of the origin was achieved using molecular genetic methods.
    CONCLUSIONS: The results of this case study provide evidence of metachronous development of mature cystic teratomas of the ovaries and may serve as a reference in the management of patients following laparoscopic cystectomy.
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