sex determination

性别决定
  • 文章类型: Journal Article
    在哺乳动物中,性腺体细胞谱系分化决定了双潜能性腺发育为卵巢或睾丸。支持细胞,生精小管中唯一的体细胞,在性腺发育过程中支持精子发生。在胚胎支持细胞系分化过程中,相关基因,包括WT1,GATA4,SRY,SOX9AMH,PTGDS,SF1和DMRT1在特定时间和特定位置表达,以确保胚胎正确分化为雄性表型。支持细胞的发育失调导致性腺畸形和男性生育障碍。然而,支持细胞胚胎起源的分子途径仍然难以捉摸。通过综述胚胎支持细胞发生及其关键调控因子的研究进展,这篇综述提供了有关雄性哺乳动物性别决定以及雄性生殖脊中支持细胞谱系分化的分子机制的新见解。
    In mammals, gonadal somatic cell lineage differentiation determines the development of the bipotential gonad into either the ovary or testis. Sertoli cells, the only somatic cells in the spermatogenic tubules, support spermatogenesis during gonadal development. During embryonic Sertoli cell lineage differentiation, relevant genes, including WT1, GATA4, SRY, SOX9, AMH, PTGDS, SF1, and DMRT1, are expressed at specific times and in specific locations to ensure the correct differentiation of the embryo toward the male phenotype. The dysregulated development of Sertoli cells leads to gonadal malformations and male fertility disorders. Nevertheless, the molecular pathways underlying the embryonic origin of Sertoli cells remain elusive. By reviewing recent advances in research on embryonic Sertoli cell genesis and its key regulators, this review provides novel insights into sex determination in male mammals as well as the molecular mechanisms underlying the genealogical differentiation of Sertoli cells in the male reproductive ridge.
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  • 文章类型: Systematic Review
    背景:Aphalia是一种罕见的先天性异常,通常与其他泌尿生殖系统异常有关。用于立即和长期治疗的无足病患者的无足病病例的管理是一个主要的难题。患者一生都面临着心理社会和性心理挑战的风险。
    方法:对失足病例进行系统评价。我们在2023年3月之前的在线数据库中搜索相关文章,并根据PRISMA-P指南进行操作。
    结果:在筛选的43篇文章中,包括33篇文章。共对41例患者进行定性分析。亚洲是最多病例的地区,占53%(n:22),而美国是报告数量最多的国家,占31%(n:13)。大多数病例被确定为男性(n:40),大多数病例为新生儿,占68%(n:28)例。体格检查通常发现85%(N=35)的阴囊发育正常,睾丸可触及。在80%(n:29)的病例中,受影响最大的异常系统是泌尿生殖系统。39%(n:16)的患者的初始管理涉及膀胱造口术。31%(n:13)的进一步治疗包括阴茎成形术或阴茎重建,12%(n:5)选择女性。17%(n:7)的患者拒绝治疗或失去随访,12%(n=5)的患者死亡。
    结论:Aphalia是一种罕见疾病,通常与其他遗传性泌尿生殖系统疾病有关。在大多数情况下,体检是正常的,除了没有阳具,实验室检测结果正常.初始管理通常涉及膀胱造口术。随后的管理侧重于性别确定。目前,男性优先于女性。由于显著的可变性,罕见的案件,并且在许多关于失足的研究中缺乏长期效应报告,需要进一步的研究来减少偏差。
    BACKGROUND: Aphallia is a rare congenital anomaly often associated with other urogenital anomalies. The management of aphallia cases for both the immediate and long-term treatment of patients with aphallia pose a major dilemma. Patients are at risk for psychosocial and psychosexual challenges throughout life.
    METHODS: A systematic review was conducted on aphallia cases. We searched online databases until March 2023 for relevant articles and performed according to the PRISMA-P guidelines.
    RESULTS: Of the 43 articles screened, there were 33 articles included. A total of 41 patients were analyzed qualitatively. Asia is the region with the most aphallia cases with 53% (n:22), while the United States is the country with the most most reported aphallia cases 31% (n:13). Most cases were identified as male sex (n: 40), and most cases were neonate with 68% (n:28) cases. Physical examination generally found 85% (N = 35) with normal scrotal development and palpable testes. The most affected system with anomalies is the genitourinary system with fistulas in 80% (n:29) cases. Initial management in 39% (n:16) of patients involved vesicostomy. Further management of 31% (n:13) included phalloplasty or penile reconstruction, and 12% (n:5) chose female sex. 17% (n:7) of patients refused medical treatment or were lost to follow-up, and 12% (n = 5) patients deceased.
    CONCLUSIONS: Aphallia is a rare condition and is often associated with other inherited genitourinary disorders. In most cases, physical examinations are normal except for the absence of a phallus, and laboratory testing shows normal results. The initial management typically involves the vesicostomy procedure. Subsequent management focuses on gender determination. Currently, male sex is preferred over female. Due to the significant variability, the rarity of cases, and the lack of long-term effect reporting in many studies on aphallia, further research is needed to minimize bias.
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  • 文章类型: Journal Article
    苗勒管是成对的胚胎管,可产生雌性生殖道。在人类中,苗勒管分化成输卵管,子宫和阴道上部。在鸟类和爬行动物中,穆勒导管发育成同源结构,输卵管.导管发育的遗传和激素调节是理解性分化的模型。在男性中,导管通常在胚胎生命期间经历退化,在睾丸来源的抗苗勒管激素的影响下,AMH.在女性中,在胚胎发生过程中缺乏AMH可以使导管分化为雌性生殖道。在鸡的胚胎中,发展和性别分化的长期模式,苗勒管在雌性中的发育不对称。只有左导管形成输卵管,仅在身体的左侧与卵巢形成一致。右边的管道,连同右性腺,变得退化。这种鸟类不对称的机制从未完全解决,但被认为涉及AMH和性类固醇激素之间的局部相互作用。这个迷你评论重新审视了这个主题,突出了该领域的问题,并提出了一个可测试的非对称风管发展模型。我们认为,当前的分子和成像技术将为这种奇怪的不对称性提供新的启示。有关鸡模型中不对称导管发育的信息将使我们对脊椎动物性分化的理解更加广泛。
    Müllerian ducts are paired embryonic tubes that give rise to the female reproductive tract. In humans, the Müllerian ducts differentiate into the Fallopian tubes, uterus and upper portion of the vagina. In birds and reptiles, the Müllerian ducts develop into homologous structures, the oviducts. The genetic and hormonal regulation of duct development is a model for understanding sexual differentiation. In males, the ducts typically undergo regression during embryonic life, under the influence of testis-derived Anti-Müllerian Hormone, AMH. In females, a lack of AMH during embryogenesis allows the ducts to differentiate into the female reproductive tract. In the chicken embryo, a long-standing model for development and sexual differentiation, Müllerian duct development in females in asymmetric. Only the left duct forms an oviduct, coincident with ovary formation only on the left side of the body. The right duct, together with the right gonad, becomes vestigial. The mechanism of this avian asymmetry has never been fully resolved, but is thought to involve local interplay between AMH and sex steroid hormones. This mini-review re-visits the topic, highlighting questions in the field and proposing a testable model for asymmetric duct development. We argue that current molecular and imaging techniques will shed new light on this curious asymmetry. Information on asymmetric duct development in the chicken model will inform our understanding of sexual differentiation in vertebrates more broadly.
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  • 文章类型: Journal Article
    法医牙科中的性别确定是迈向死后分析的重要一步。最广泛认可的方法是DNA,然而,它在法医学牙科领域的应用仍然不切实际。根据遗骸的状况,牙齿通常是唯一存活的器官。最近制作了一些系统评论(SRs);因此,这种总括性审查严格评估了他们的证据水平,并提供了全面的观点。在四个数据库中进行了电子数据库搜索(PubMed,科克伦,WebofScience,和LILACS)和三个灰色搜索引擎,截至2021年12月,重点是通过法医牙科程序进行性别确定的SR。使用测量工具评估SRs标准(AMSTAR2)分析SRs的方法学质量。包括五个SR,两个严重低质量,三个低质量。SR认为犬齿是最二象性的牙齿;口腔组织残留物是通过DNA追踪确定性别的丰富来源;人工智能工具在法医牙科领域显示出很高的潜力。使用牙科方法进行性别确定的证据质量被评为较低。精心设计的临床试验和高标准的系统评价对于证实法医牙科中不同性别确定程序的准确性至关重要。
    Sex determination in forensic dentistry is a major step towards postmortem profiling. The most widely recognized method is DNA, yet its application in the dental field of forensic sciences is still impractical. Depending on the conditions of the remains, teeth are often the only surviving organ. Some systematic reviews (SRs) have been recently produced; hence this umbrella review critically assesses their level of evidence and provides an overall comprehensive view. An electronic database search was conducted in four databases (PubMed, Cochrane, Web of Science, and LILACS) and three grey search engines up to December 2021, focusing on SRs of sex determination through forensic dentistry procedures. The methodological quality of the SRs was analyzed using the measurement tool to assess SRs criteria (AMSTAR2). Five SRs were included, two of critically low quality and three of low quality. The SRs posited that canines are the most dimorphic teeth; oral tissue remnants are a rich source for sex determination by DNA tracing; and artificial intelligence tools demonstrate high potential in forensic dentistry. The quality of evidence on sex determination using dental approaches was rated as low. Well-designed clinical trials and high standard systematic reviews are essential to corroborate the accuracy of the different procedures of sex determination in forensic dentistry.
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  • 文章类型: Journal Article
    在脊椎动物中,控制男性或女性性腺分化的触发和生物过程各不相同,性别决定(SD)受环境因素或简单到复杂的遗传机制支配,这些遗传机制在不同群体中反复和独立地进化。这里,我们用SD的信息回顾了脊椎动物主要进化枝的性别进化,性发育和生殖模式。我们提供最新的分歧时间审查,物种多样性,基因组资源,基因组大小,多倍体的发生和性质,SD系统,性染色体,SD基因,剂量补偿和性别偏倚基因表达。测序技术的进步现在使我们能够在更广泛的进化范围内研究SD的进化,我们现在希望在脊椎动物中进行性别组学综合研究。脊椎动物性系包括关于性分化的跨学科和综合信息,所有生物水平的发育和繁殖,从基因组中,转录组和蛋白质组,涉及性和性别特定过程的器官,包括性腺,次要性器官和具有转录性偏见的器官。性别群体还包括性分化的个体发育和行为方面,包括SD的故障和损伤,性分化和生育能力。从高通量方法生成的数据开始,我们鼓励其他人贡献专业知识,以建立对许多关键脊椎动物物种性别的理解。本文是主题“挑战性染色体进化的范式:以脊椎动物为重点的经验和理论见解(第一部分)”的一部分。
    Triggers and biological processes controlling male or female gonadal differentiation vary in vertebrates, with sex determination (SD) governed by environmental factors or simple to complex genetic mechanisms that evolved repeatedly and independently in various groups. Here, we review sex evolution across major clades of vertebrates with information on SD, sexual development and reproductive modes. We offer an up-to-date review of divergence times, species diversity, genomic resources, genome size, occurrence and nature of polyploids, SD systems, sex chromosomes, SD genes, dosage compensation and sex-biased gene expression. Advances in sequencing technologies now enable us to study the evolution of SD at broader evolutionary scales, and we now hope to pursue a sexomics integrative research initiative across vertebrates. The vertebrate sexome comprises interdisciplinary and integrated information on sexual differentiation, development and reproduction at all biological levels, from genomes, transcriptomes and proteomes, to the organs involved in sexual and sex-specific processes, including gonads, secondary sex organs and those with transcriptional sex-bias. The sexome also includes ontogenetic and behavioural aspects of sexual differentiation, including malfunction and impairment of SD, sexual differentiation and fertility. Starting from data generated by high-throughput approaches, we encourage others to contribute expertise to building understanding of the sexomes of many key vertebrate species. This article is part of the theme issue \'Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part I)\'.
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  • 文章类型: Journal Article
    法医牙本质学是将牙齿原则应用于法律问题。它是牙科的一个调查方面,分析牙科证据以进行人类识别。性别鉴定是法医牙齿学的一个分支,这一点很重要,尤其是在无法获得与死者有关的信息时。在事故发生的情况下,性别确定成为法医调查员识别一个人的过程中的第一要务,化学和核弹爆炸,自然灾害,犯罪调查,和民族研究。使用骨骼遗骸确定性别/性别对法医专家来说是一个很大的问题,尤其是只有尸体碎片被回收的时候.法医牙科医生可以帮助其他专家使用牙齿和头骨特征确定遗骸的性别。牙齿的各种特征,如形态,表冠尺寸,和根长是男性和女性的特征。两种性别的头骨图案和头骨特征也存在差异。这些将有助于法医牙科医生鉴定遗体的性别。图书馆的论文内容以及几篇文章和书籍在Google中使用关键字“性别确定”进行了电子搜索,“”法医牙科,法医牙科中的性别确定。“内容在1950年至2015年之间通过标题和摘要以及全文阅读进行了筛选。本文的目的是熟悉性别确定的不同方法。
    Forensic odontology is the application of dental principles to legal issues. It is an investigative aspect of dentistry that analyzes dental evidence for human identification. Sex determination is a subdivision of forensic odontology, and it is important especially when information relating to the deceased is unavailable. Sex determination becomes the first priority in the process of identification of a person by a forensic investigator in the case of mishaps, chemical and nuclear bomb explosions, natural disasters, crime investigations, and ethnic studies. Determination of sex/gender using skeletal remains presents a great problem to forensic experts, especially when only fragments of body are recovered. Forensic odontologist can assist other experts to determine the sex of the remains using teeth and skull traits. Various features of teeth such as morphology, crown size, and root length are characteristics for male and female sexes. There are also differences in the skull pattern and skull traits of two sexes. These will help forensic odontologists to identify the sex of the remains. The library dissertation contents and several articles and books were electronically searched in Google using the keywords \"sex determination,\" \"forensic dentistry,\" \"sex determination in forensic dentistry.\" The contents were screened between 1950 and 2015 by going through the title and abstracts and full-text reading. The purpose of this article is to familiarize the different methods of sex determination.
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  • 文章类型: Journal Article
    印度各地种植了许多雌雄异株的物种,其中一些植物在该国的农业经济中起着至关重要的作用。在开花前的雌雄异株植物中性别的诊断是非常困难的,其中在幼苗阶段的性别鉴定对于育种者以及农民对于作物改良或生产目的是非常重要的。性别确定的综合方法包括形态学,生物化学,细胞学和分子属性是雌雄异株植物性别分化的必要条件。在本次审查中,我们强调了经济,在印度次大陆广泛生长的大多数雌雄异株物种的药用和工业重要性。除此之外,细胞遗传学,本综述严格讨论了与性别决定相关的遗传和分子信息。
    A number of dioecious species are grown across India and some of those plants play a crucial role in the agro-based economy of the country. The diagnosis of sex is very difficult in the dioecious plant prior flowering wherein sex identification at the seedling stage is of great importance to breeders as well as farmers for crop improvement or production purpose. A comprehensive approach of sex determination comprising morphological, biochemical, cytological and molecular attributes is a must required for gender differentiation in dioecious plant species. In the present review, we highlighted the economical, medicinal as well as industrial importance of most of the dioecious species extensively grown in Indian subcontinent. In addition to that, the cytogenetic, genetic as well as molecular information in connection to their sex determination were critically discussed in this review.
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  • 文章类型: Journal Article
    法医牙本质学是将牙齿原则应用于法律问题。性别确定是法医牙齿学的一个细分,尤其是在无法获得与死者有关的信息时,这非常重要。在事故发生的情况下,性别确定成为法医调查员识别一个人的过程中的第一要务,化学和核弹爆炸,自然灾害犯罪调查,和民族研究。本文回顾了性别确定中使用的各种方法。
    Forensic odontology is the application of dental principles to legal issues. Sex determination is a subdivision of forensic odontology and it is very important especially when information relating to the deceased is unavailable. Sex determination becomes the first priority in the process of identification of a person by a forensic investigator in the case of mishaps, chemical and nuclear bomb explosions, natural disasters crime investigations, and ethnic studies. This article reviews upon the various methods used in sex determination.
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  • 文章类型: Journal Article
    Sex determination of domestic animal\'s meat is of potential value in meat authentication and quality control studies. Methods aiming at determining the sex origin of meat may be based either on the analysis of hormone or on the analysis of nucleic acids. At the present time, sex determination of meat and meat products based on hormone analysis employ gas chromatography-mass spectrometry (GC-MS), high-performance liquid chromatography-mass spectrometry/mass spectrometry (HPLC-MS/MS), and enzyme-linked immunosorbent assay (ELISA). Most of the hormone-based methods proved to be highly specific and sensitive but were not performed on a regular basis for meat sexing due to the technical limitations or the expensive equipments required. On the other hand, the most common methodology to determine the sex of meat is unquestionably traditional polymerase chain reaction (PCR) that involves gel electrophoresis of DNA amplicons. This review is intended to provide an overview of the DNA-based methods for sex determination of meat and meat products.
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  • 文章类型: Journal Article
    The general perspective of ovary organogenesis is that the ovary is the default organ which develops in the absence of testis-promoting factors. Testis formation, on the other hand, is a male-specific event promoted by active components that override the default ovarian process. However, when comparing the sex determination mechanism among different vertebrate species, it is apparent that this default view of ovary formation can only be applied to mammals. In species such as reptiles and birds, ovary formation is an active process stimulated by estrogen. Remnants of this estrogen-dominant pathway are still present in marsupials, a close relative of eutherian mammals, like humans and mice. Although initial formation of the mammalian ovary has become strictly regulated by genetic components and is therefore independent of estrogen, the feminizing effect of estrogen regains its command in adult ovaries. When estrogen production, or its signaling, is inhibited, transdifferentiation of ovarian tissues to testis structures occur in adult females. Taken together, these observations prompt us to reconsider the process of ovary organogenesis as the default organ and question if testis development is actually the default pathway.
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