Y Chromosome

Y 染色体
  • 文章类型: Journal Article
    山羊被认为是在伊拉克库尔德斯坦地区农业部门发挥重要作用的主要农场动物。尚未对其进行细胞学检查。本实验旨在确定本地种山羊的核型。本实验是在核型上进行的,并准备了Meriz山羊的表意图。通过核型的产生,可以确定品种中染色体的相对长度和着丝粒指数臂比。总共(30)只Meriz山羊,由(10)男性和(20)女性组成,选择收集血液样本进行短期淋巴细胞培养。观察到二倍体染色体计数为(60),由(29)对顶心常染色体和一对同种异体体组成,特别是X和Y染色体。通过科学研究确定了X染色体的近核性质和Y染色体的亚中心性质。该研究观察到Meriz山羊常染色体相对长度的变化,女性从4.49%到1.89%,男性从(4.53%)到(1.75%)。女性X染色体的相对长度为3.96,而Y染色体显示的相对长度为(5.05)。这项核学研究的结果表明,在接受检查的Meriz山羊中看到的染色体组成在正常状态的预期范围内。建议在种群水平上进行更多的细胞遗传学分析,以鉴定Meriz品种种群中具有数字和/或结构染色体异常的个体。这项研究对于提高该品种的生产和繁殖效率至关重要。
    Goats are considered the leading farm animal that has a substantial role in the agricultural sector in the Kurdistan Region of Iraq. No cytological examination has been carried out on them. This experiment aims to identify the Karyotype of the local breeds of domestic goats. This experiment was conducted on the Karyotype and prepared the ideogram of Meriz goats. The determination of the relative length and centromeric index arm ratio of the chromosomes in the breed was achieved by the production of karyotypes. A total of (30)Meriz goats, consisting of (10) males and (20) females, were selected to collect blood samples for a short-term lymphocyte culture. The diploid chromosome count was observed to be (60), consisting of (29) pairs of acrocentric autosomes and one pair of allosomes, specifically the X and Y chromosomes. The acrocentric nature of the X-chromosome and the sub-metacentric nature of the Y-chromosome were identified through scientific investigation. The study observed a variation in the relative length of autosomal chromosomes in Meriz goats, with females ranging from 4.49% to 1.89% and males ranging from (4.53%) to (1.75%). The X-chromosome had a relative length of 3.96 in females, while the Y-chromosome displayed a relative length of (5.05). The findings of this karyological investigation suggest that the chromosomal composition seen in the Meriz goats under examination was within the expected range of normalcy. It is recommended that more cytogenetic analyses be conducted at the population level in order to identify individuals within the Meriz breed population who possesses numerical and/or structural chromosome abnormalities. This research is crucial for enhancing the efficiency of production and reproduction in this breed.
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  • 文章类型: Journal Article
    家蝇提供了一个很好的实验模型来研究主要性别决定基因座的初始进化阶段,因为它们拥有不同的最近进化的原Y染色体,其中包含具有相同男性决定基因的男性决定基因座(M),Mdmd.我们从基因组和细胞遗传学上研究了M基因座,揭示了M基因座之间不同的分子结构。染色体V(MV)上的M在回文中具有两个完整的Mdmd拷贝。染色体III(MIII)上的M具有包含88个Mdmd拷贝(只有一个完整的)和各种重复的串联重复,包括XY普遍的重复。染色体II(MII)上的M和Y(MY)共享MIII样结构,但重复次数较少。MY还共享MV特定的序列安排。根据这些数据和使用两个探针的核图,一个来自MIII,一个来自特定的Mdmd,我们推断多态M基因座的进化史,它们是由Mdmd的独特易位引起的,嵌入更大的DNA片段中,并独立地分成不同复杂性的区域。
    Houseflies provide a good experimental model to study the initial evolutionary stages of a primary sex-determining locus because they possess different recently evolved proto-Y chromosomes that contain male-determining loci (M) with the same male-determining gene, Mdmd. We investigate M-loci genomically and cytogenetically revealing distinct molecular architectures among M-loci. M on chromosome V (MV) has two intact Mdmd copies in a palindrome. M on chromosome III (MIII) has tandem duplications containing 88 Mdmd copies (only one intact) and various repeats, including repeats that are XY-prevalent. M on chromosome II (MII) and the Y (MY) share MIII-like architecture, but with fewer repeats. MY additionally shares MV-specific sequence arrangements. Based on these data and karyograms using two probes, one derives from MIII and one Mdmd-specific, we infer evolutionary histories of polymorphic M-loci, which have arisen from unique translocations of Mdmd, embedded in larger DNA fragments, and diverged independently into regions of varying complexity.
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  • 文章类型: Journal Article
    由于其动荡的人口历史,以欧亚大陆不同地区的广泛定居和基因流动为标志,东南欧(参见)一直是东西方之间的遗传十字路口,也是重塑欧洲人口的移民的交汇处。看,包括现代克罗地亚领土,是来自近东甚至更遥远地区和该地区人口的重要通道,几乎任何其他欧洲人口都代表着一种非凡的遗传混合物。自从上旧石器时代以来,现代人类一直在占领这个地区,不同的(前)历史事件在该地区的历史叙事上留下了独特的遗传特征。在过去的几十年中,从Y染色体研究中获得的非凡数据使我们对其历史的看法得到了极大的更新。最近,国际研究界,将遗传学家和考古学家聚集在一起,从这个地区稳定地释放了越来越多的古代基因组,揭示了其复杂的过去人口动态,并塑造了克罗地亚和欧洲这一地区的基因库。
    Due to its turbulent demographic history, marked by extensive settlement and gene flow from diverse regions of Eurasia, Southeastern Europe (SEE) has consistently served as a genetic crossroads between East and West and a junction for the migrations that reshaped Europe\'s population. SEE, including modern Croatian territory, was a crucial passage from the Near East and even more distant regions and human populations in this region, as almost any other European population represents a remarkable genetic mixture. Modern humans have continuously occupied this region since the Upper Paleolithic era, and different (pre)historical events have left a distinctive genetic signature on the historical narrative of this region. Our views of its history have been mostly renewed in the last few decades by extraordinary data obtained from Y-chromosome studies. In recent times, the international research community, bringing together geneticists and archaeologists, has steadily released a growing number of ancient genomes from this region, shedding more light on its complex past population dynamics and shaping the genetic pool in Croatia and this part of Europe.
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  • 文章类型: Journal Article
    波兰Konik仍然是波兰最重要的马种之一。原始的,身体矮胖,外套颜色像老鼠一样的本土马受到保护计划的保护,虽然他们的波兰人口约有3,480人,代表16条大坝和6条父线。为了定义种群的遗传结构,鉴定了线粒体DNA和Y染色体序列变量。使用Sanger测序方法对属于所有坝线的233个波兰Koniks进行了mtDNA全高变区分析,而Y染色体分析是使用竞争性等位基因特异性PCR基因分型方法对属于所有父系的36匹马进行的。mtDNA高变区的分析检测到47个SNPs,将所有测试的马分配给43个单倍型。大多数大坝线呈现不止一种单倍型;然而,五条坝线仅由一种单倍型代表。单倍型分为六种(A,B,E,J,G,R)识别的mtDNA单倍群,大多数马属于单倍群A,在亚洲马种群中很常见。Y染色体分析将波兰Koniks分配到皇冠组中,浓缩所有现代马品种,并将它们分成三个单倍型,与冷血品种(28匹马)聚集在一起,温血品种(两匹马),和DuelmenerPony(六匹马)。所有Wicek父系种马与Duelmener马的聚类可能表明品种之间存在历史关系。此外,mtDNA和Y染色体序列变异性结果均表明在研究簿关闭之前进行了杂交,或者在DNA测试引入之前发生了家系的不规则性。
    Polish Konik remains one of the most important horse breeds in Poland. The primitive, native horses with a stocky body and mouse-like coat color are protected by a conservation program, while their Polish population consists of about 3,480 individuals, representing 16 dam and six sire lines. To define the population\'s genetic structure, mitochondrial DNA and Y chromosome sequence variables were identified. The mtDNA whole hypervariable region analysis was carried out using the Sanger sequencing method on 233 Polish Koniks belonging to all dam lines, while the Y chromosome analysis was performed with the competitive allele-specific PCR genotyping method on 36 horses belonging to all sire lines. The analysis of the mtDNA hypervariable region detected 47 SNPs, which assigned all tested horses to 43 haplotypes. Most dam lines presented more than one haplotype; however, five dam lines were represented by only one haplotype. The haplotypes were classified into six (A, B, E, J, G, R) recognized mtDNA haplogroups, with most horses belonging to haplogroup A, common among Asian horse populations. Y chromosome analysis allocated Polish Koniks in the Crown group, condensing all modern horse breeds, and divided them into three haplotypes clustering with coldblood breeds (28 horses), warmblood breeds (two horses), and Duelmener Pony (six horses). The clustering of all Wicek sire line stallions with Duelmener horses may suggest a historical relationship between the breeds. Additionally, both mtDNA and Y chromosome sequence variability results indicate crossbreeding before the studbooks closure or irregularities in the pedigrees occurred before the DNA testing introduction.
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  • 文章类型: Journal Article
    尽管内含子通常是数万到数千个核苷酸,有值得注意的例外。在苍蝇和人类中,少数基因含有比典型内含子大1000倍以上的内含子,超过数百千碱基(kb)至兆碱基(Mb)。尚不清楚为什么存在巨大的内含子,以及细胞如何克服与其转录和RNA加工相关的挑战。果蝇Y染色体包含一些迄今为止发现的最大基因:多个基因超过4Mb,内含子占基因跨度的99%以上。在这里,我们证明了这些巨大的Y连锁基因的共转录剪接对于确保成功的转录很重要:剪接的扰动导致转录的减弱,导致无法产生成熟的mRNA。细胞学上,Y连锁的巨大基因的有缺陷的剪接导致细胞核内转录本的混乱,暗示转录本的缠结,可能是由未剪接的长RNA引起的。我们提出,共转录剪接将巨大基因的新生转录本的长度维持在临界阈值之下,防止它们纠缠并确保适当的基因表达。我们的研究揭示了共转录剪接的新生物学意义。
    Although introns are typically tens to thousands of nucleotides, there are notable exceptions. In flies as well as humans, a small number of genes contain introns that are more than 1000 times larger than typical introns, exceeding hundreds of kilobases (kb) to megabases (Mb). It remains unknown why gigantic introns exist and how cells overcome the challenges associated with their transcription and RNA processing. The Drosophila Y chromosome contains some of the largest genes identified to date: multiple genes exceed 4Mb, with introns accounting for over 99% of the gene span. Here we demonstrate that co-transcriptional splicing of these gigantic Y-linked genes is important to ensure successful transcription: perturbation of splicing led to the attenuation of transcription, leading to a failure to produce mature mRNA. Cytologically, defective splicing of the Y-linked gigantic genes resulted in disorganization of transcripts within the nucleus suggestive of entanglement of transcripts, likely resulting from unspliced long RNAs. We propose that co-transcriptional splicing maintains the length of nascent transcripts of gigantic genes under a critical threshold, preventing their entanglement and ensuring proper gene expression. Our study reveals a novel biological significance of co-transcriptional splicing.
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  • 文章类型: Journal Article
    尽管努力探索疟疾媒介冈比亚按蚊的基因组,这个物种的Y染色体仍然是神秘的。大量的重复和异色DNA序列使得Y染色体异常难以完全组装,阻碍了该染色体的基因编辑技术和功能研究的进展。在这项研究中,我们利用生物信息学平台鉴定Y特异性重复DNA序列,这些序列可作为CRISPR/Cas9系统的靶位点.Cas9在男性生殖器官中的活性对Y精子造成损害,而不影响其生育能力,导致后代中强烈的女性偏见。细胞学研究使我们能够在这种新的合成性别比例扭曲系统中识别减数分裂缺陷并研究精子选择。此外,替代启动子使我们能够在雄性蚊子的特定组织和发育阶段靶向Y染色体,使研究能够阐明该染色体在雄性配子发生中的作用。这项工作为进一步了解冈比亚按蚊Y染色体特征不佳铺平了道路。此外,我们产生的性别扭曲菌株有望成为促进发育生物学领域研究的宝贵工具,有可能支持旨在控制疟疾蚊子和其他害虫物种的遗传策略的进展。
    Despite efforts to explore the genome of the malaria vector Anopheles gambiae, the Y chromosome of this species remains enigmatic. The large number of repetitive and heterochromatic DNA sequences makes the Y chromosome exceptionally difficult to fully assemble, hampering the progress of gene editing techniques and functional studies for this chromosome. In this study, we made use of a bioinformatic platform to identify Y-specific repetitive DNA sequences that served as a target site for a CRISPR/Cas9 system. The activity of Cas9 in the reproductive organs of males caused damage to Y-bearing sperm without affecting their fertility, leading to a strong female bias in the progeny. Cytological investigation allowed us to identify meiotic defects and investigate sperm selection in this new synthetic sex ratio distorter system. In addition, alternative promoters enable us to target the Y chromosome in specific tissues and developmental stages of male mosquitoes, enabling studies that shed light on the role of this chromosome in male gametogenesis. This work paves the way for further insight into the poorly characterised Y chromosome of Anopheles gambiae. Moreover, the sex distorter strain we have generated promises to be a valuable tool for the advancement of studies in the field of developmental biology, with the potential to support the progress of genetic strategies aimed at controlling malaria mosquitoes and other pest species.
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  • 文章类型: Journal Article
    大多数脊椎动物发育不同的雌性和雄性,性别是由反复进化的环境或遗传触发因素决定的。未分化的性染色体和大型基因组在两栖动物中引起了主要的知识空白。只有一个主性别决定基因,雌性异类爪蛙(非洲爪鱼;ZW‰/ZZ‰)的dmrt1-paralogue(dm-w),在>8740种两栖动物中已知。在这项研究中,通过结合非模型两栖动物的染色体尺度的女性和男性基因组,欧洲绿蟾蜍,Bufo(tes)viridis,使用ddRAD和全基因组池测序,我们揭示了一个候选的主基因座,管理男性-异型系统(XX‰/XY‰)。多个分类单元的靶向测序揭示了基因bod1l的5'-调控区的结构X/Y变异,其中Y特异性非编码RNA(ncRNA-Y),只在男性中表达,表明该基因座引发了性别特异性分化。发育转录组和RNA原位杂交显示原始性腺中及时和空间相关的性别特异性ncRNA-Y和bod1l基因表达。这与前颗粒细胞/前支持细胞中的差异H3K4me甲基化相吻合,指向两栖动物性别决定的特定机制。
    Most vertebrates develop distinct females and males, where sex is determined by repeatedly evolved environmental or genetic triggers. Undifferentiated sex chromosomes and large genomes have caused major knowledge gaps in amphibians. Only a single master sex-determining gene, the dmrt1-paralogue (dm-w) of female-heterogametic clawed frogs (Xenopus; ZW♀/ZZ♂), is known across >8740 species of amphibians. In this study, by combining chromosome-scale female and male genomes of a non-model amphibian, the European green toad, Bufo(tes) viridis, with ddRAD- and whole genome pool-sequencing, we reveal a candidate master locus, governing a male-heterogametic system (XX♀/XY♂). Targeted sequencing across multiple taxa uncovered structural X/Y-variation in the 5\'-regulatory region of the gene bod1l, where a Y-specific non-coding RNA (ncRNA-Y), only expressed in males, suggests that this locus initiates sex-specific differentiation. Developmental transcriptomes and RNA in-situ hybridization show timely and spatially relevant sex-specific ncRNA-Y and bod1l-gene expression in primordial gonads. This coincided with differential H3K4me-methylation in pre-granulosa/pre-Sertoli cells, pointing to a specific mechanism of amphibian sex determination.
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  • 文章类型: Journal Article
    XY性别决定系统中的Y染色体通常比X染色体短,Y重组停止后归因于变性的状况。与传统的连续观点相反,逐渐退化,我们的研究揭示了大量交配种群的稳定性。在这些人群中,我们证明Y染色体上的突变和活性等位基因都可以通过突变-选择平衡达到平衡。然而,一个新物种的出现,特别是通过创始人效应,会破坏这种平衡。具体来说,如果新物种的男性创始人只携带特定Y连锁基因的突变等位基因,这个等位基因变得固定,导致Y染色体上相应的活性基因丢失。我们的发现表明,Y染色体变性的速率可能与单男性创始人事件相关的物种形成事件的频率有关。
    The Y chromosome in the XY sex-determination system is often shorter than its X counterpart, a condition attributed to degeneration after Y recombination ceases. Contrary to the traditional view of continuous, gradual degeneration, our study reveals stabilization within large mating populations. In these populations, we demonstrate that both mutant and active alleles on the Y chromosome can reach equilibrium through a mutation-selection balance. However, the emergence of a new species, particularly through the founder effect, can disrupt this equilibrium. Specifically, if the male founders of a new species carry only a mutant allele for a particular Y-linked gene, this allele becomes fixed, leading to the loss of the corresponding active gene on the Y chromosome. Our findings suggest that the rate of Y-chromosome degeneration may be linked to the frequency of speciation events associated with single-male founder events.
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  • 文章类型: Journal Article
    猿类拥有两条性染色体——男性特异性Y染色体和X染色体,它存在于男性和女性中。Y染色体对男性生殖至关重要,与缺失有关1。X染色体对生殖和认知至关重要2。猿类之间交配方式和大脑功能的变化表明其性染色体存在相应差异。然而,由于它们的重复性和不完整的参考程序集,猿类性染色体的研究一直具有挑战性。这里,使用为端粒到端粒(T2T)人类基因组开发的方法,我们为五只大猿(黑猩猩(Panpaniscus),黑猩猩,西部低地大猩猩(大猩猩大猩猩),婆罗洲猩猩(Pongopygmaeus)和苏门答腊猩猩(Pongoabelii))和小猿(siamang长臂猿(Symbalangussyndactylus),解开它们进化的复杂性。与X染色体相比,由于谱系特异性扩增区域的积累,猿Y染色体的大小差异很大,并且具有较低的比对性和高水平的结构重排,回文,可转位元素和卫星。许多Y染色体基因在多拷贝家族中扩展,有些基因在纯化选择下进化。因此,Y染色体表现出动态进化,而X染色体更稳定。将短读测序数据映射到这些组件,揭示了100多个大猿的性染色体上的多样性和选择模式。这些参考组件有望为非人类猿类的人类进化和保护遗传学提供信息,所有这些都是濒危物种。
    Apes possess two sex chromosomes-the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked to infertility1. The X chromosome is vital for reproduction and cognition2. Variation in mating patterns and brain function among apes suggests corresponding differences in their sex chromosomes. However, owing to their repetitive nature and incomplete reference assemblies, ape sex chromosomes have been challenging to study. Here, using the methodology developed for the telomere-to-telomere (T2T) human genome, we produced gapless assemblies of the X and Y chromosomes for five great apes (bonobo (Pan paniscus), chimpanzee (Pan troglodytes), western lowland gorilla (Gorilla gorilla gorilla), Bornean orangutan (Pongo pygmaeus) and Sumatran orangutan (Pongo abelii)) and a lesser ape (the siamang gibbon (Symphalangus syndactylus)), and untangled the intricacies of their evolution. Compared with the X chromosomes, the ape Y chromosomes vary greatly in size and have low alignability and high levels of structural rearrangements-owing to the accumulation of lineage-specific ampliconic regions, palindromes, transposable elements and satellites. Many Y chromosome genes expand in multi-copy families and some evolve under purifying selection. Thus, the Y chromosome exhibits dynamic evolution, whereas the X chromosome is more stable. Mapping short-read sequencing data to these assemblies revealed diversity and selection patterns on sex chromosomes of more than 100 individual great apes. These reference assemblies are expected to inform human evolution and conservation genetics of non-human apes, all of which are endangered species.
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  • 文章类型: Journal Article
    与编码基因不同,生物体基因组中lncRNA基因的数量与生物体的复杂性成正比。从植物到人类,lncRNA基因表达数量和水平最高的组织是男性生殖器官。要了解为什么,我们启动了果蝇lncRNA在这些组织中的空间表达模式的全基因组分析。观察到的基因数量和表达水平大大超过了以前的报道,主要是由于非聚腺苷酸化转录物的优势。与编码基因形成鲜明对比的是,在减数分裂后的精子细胞中表达的lncRNAs数量最高。表达水平之间的相关性,定位和以前进行的遗传分析表明,高水平的功能和要求。更集中的分析表明,lncRNAs通过控制转座元件活性在进化中发挥主要作用,Y染色体基因表达与精子构建。在精液中发现的一种新型的基于lncRNA的颗粒也可能有助于生殖结果。
    Unlike coding genes, the number of lncRNA genes in organism genomes is relatively proportional to organism complexity. From plants to humans, the tissues with highest numbers and levels of lncRNA gene expression are the male reproductive organs. To learn why, we initiated a genome-wide analysis of Drosophila lncRNA spatial expression patterns in these tissues. The numbers of genes and levels of expression observed greatly exceed those previously reported, due largely to a preponderance of non-polyadenylated transcripts. In stark contrast to coding genes, the highest numbers of lncRNAs expressed are in post-meiotic spermatids. Correlations between expression levels, localization and previously performed genetic analyses indicate high levels of function and requirement. More focused analyses indicate that lncRNAs play major roles in evolution by controlling transposable element activities, Y chromosome gene expression and sperm construction. A new type of lncRNA-based particle found in seminal fluid may also contribute to reproductive outcomes.
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