人类 Y 染色体多态性标记及其应用

随着人类基因组计划的迅猛发展,已有越来越多的 Y 染色体多态性遗传标记被发现,它们在探索人类起源、进化和迁移规律等方面,提供了非常有价值的遗传标记,同样在法医学中也有着广阔的应用前景．对 Y-DNA 的多态性及其相关应用的研究进展进行了综述．     

人类Y染色体DNA多态性及其应用

Y染色体的大部分区域为Y特异区,呈严格的父系遗传,因此Y染色体上的DNA多态性在人类进化、法医学等领域具有特殊的应用价值。     

Y染色体的分子结构和多态性研究与应用

人类Y染色体是最小的近端着丝粒染色体,作为男性所特有的染色体,在减数分裂的过程中几乎不与X染色体发生交换重组,故呈现出单倍型遗传,而Y特异区DNA序列的改变构成了人类Y染色体的多态性.其异常通常会导致各种遗传效应.综述了Y染色体的分子结构及其遗传多态性的最新研究和应用.     

中国地方黄牛的Y染色体遗传多样性及其进化起源

中国黄牛的进化起源与遗传多样性一直是国内外动物遗传学家感兴趣的课题之一.本文主要从Y染色体的形态多样性和Y染色体特异性微卫星标记遗传多态性两个方面对中国地方黄牛的遗传多样性和进化起源进行了综述.中国地方黄牛Y染色体具有中着丝粒、亚中着丝粒和近端着丝粒3种类型,这说明中国地方黄牛起源于普通牛和瘤牛.利用Y染色体特异性微卫星标记对中国地方黄牛Y染色体单倍型分布特征及Y染色体基因流模式的分析表明,北方种群中普通牛单倍型频率最高,瘤牛单倍型在南方种群中占优势;在中国不同地域,瘤牛Y染色体单倍型频率呈现自南而北、自东而西逐渐降低的趋势,这再次证实了中国黄牛主要来源于普通牛和瘤牛,这可能是这两类牛群在长期的历史进化过程中,分别从东南方向和西北方向进入我国,并在中原地区汇合的结果.本文为中国地方黄牛品种资源保护和杂交育种工作提供了参考依据.     

两栖动物性染色体的多样性及其进化机制的研究进展

两栖动物性别决定类型和性染色体具有多样性的特点。在已发现异形性染色体两栖动物中,大部分物种Y或W染色体大于其对应的X或Z染色体,少数物种具有高度分化的Y或W染色体。同时两栖动物类群内基因组大小差异大,性染色体间分子水平上也存在差异。高频转换、偶然重组和染色体重排可能是两栖动物性染色体进化过程中的关键机制。本综述通过对两栖动物性染色体进化的深入探讨,揭示其遗传性别决定的机理,有助于对两栖动物性别人工调控的进一步探索。     

植物远缘杂交中的染色体行为及其遗传与进化意义

远缘杂交与多倍体化在高等植物的进化中起着重要的作用。但矛盾和令人费解的现象是“自然界在合成多倍体方面取得了巨大的成功,而人类在这方面却收效甚微”。其原因一方面可能是自然多倍体是长期自然选择和进化的产物,人类难以在短期内重复和完成这一过程;另一方面可能对不同的染色体组结合后的遗传与互作机制还不太了解。故多倍体化后的遗传和表观遗传成了目前多学科研究的重点。在有些有性和体细胞杂种内亲本染色体在细胞内分开排列,但此染色体行为的遗传和生物学意义还不太清楚。在植物远缘杂交中出现的假配生殖、半配生殖、染色体消除和亲本染色体组分开等异常染色体行为,也反映出不同物种在配子和染色体水平上的不亲和。需对植物远缘杂交中的染色体行为和遗传进行不同层次与系统的研究,才可能深入了解杂交后新种的形成及进化机制。     

隐性遗传与禁止近亲结婚

人类遗传病分单基因、染色体和多基因遗传病三大类。单基因遗传病又分常染色体显性、隐性和伴性遗传三种方式,其中伴性遗传也有显、隐性之分。伴性遗传依基因位于哪条性染色体上,分X和Y连锁遗传。由于Y染色体过短小,上面只有少数基因,这类遗传病故很少见。     

人类和黑猩猩Y染色体结构和基因含量的差异性

解读人类和黑猩猩之间的差异性对于研究人类的进化历史具有非常重要的意义。人类和黑猩猩Y染色体相继测序完毕,利用dot-plot程序可以分析它们之间的差异性。研究结果显示,人类和黑猩猩MSY区在结构和基因含量上有很大的差异,人类MSY常染色质主要由扩增序列、X退化序列和X转座序列组成,而黑猩猩MSY常染色质主要由扩增序列和X退化序列组成。黑猩猩的MSY区含有19个回文序列,而人类只有8个回文序列。黑猩猩MSY区的基因只包含了人类MSY区基因的三分之二。通过分析可以推测,黑猩猩和人类MSY之间的显著差异主要来源于四个因素的协同作用:MSY在精子生成中的主要作用;MSY区内频繁的异常重组;减数分裂交叉重组中的"遗传便车"效应;配偶行为引起的精子的竞争。综合比较黑猩猩和人类Y染色体结构和基因含量将对研究Y染色体的进化历史及其动力产生非常重要的意义。     

植物染色体数目及其变异与生境关系初探

染色体是基因的载体 ,基因决定生物的性状 ,一定的性状则适应特定的环境。染色体对生物繁衍后代 ,延续种族起着重要的作用。虽然在一定的生境中 ,植物的染色体是恒定的 ,但是大尺度的生境异质性往往导致染色体水平的变异 ,从而增加了物种的遗传多样性。由于一个物种的稳定性和进化潜力依赖其遗传多样性 ,因此保护遗传多样性成为生物多样性保护的最终目的[1 ] 。近年来 ,由于分子生态学的兴起 ,目前遗传多样性研究多集中于同工酶遗传多样性、蛋白质多样性、ＤＮＡ序列多样性和基因位点多样性的研究[2～8,34～ 36] ,而细胞水平的遗传多样性与…     

高速演化的Y染色体

一项新研究报告显示,Y染色体是人类所有基因中演化最快的染色体。科学家将人类的基因与猩猩比对,发现Y染色体差异度为30％,而其他基因的差异度为28％。这意味着人类的Y染色体与人类其他基因相比,存在2个百分点的进化程度差异,而该演化过程是从大约600万年前开始。     

Evolution of the human X--a smart and sexy chromosome that controls speciation and development

In humans, as in other mammals, sex is determined by an XX female/XY male chromosome system. Most attention has focused on the small, degenerate Y chromosome, which bears the male-dominant gene SRY. The X, in contrast, has been considered a well-behaved and immaculately conserved element that has hardly changed since the pre-mammal days when it was just another autosome pair. However, the X, uniquely in the genome, is present in two copies in females and only one in males. This has had dire consequences genetically on the evolution of its activity--and now it appears, on its gene content and/or the function of its genes. Here we will discuss the origin of the human X, and the evolution of dosage compensation and gene content, in the light of recent demonstrations that particular functions in sex and reproduction and cognition have accumulated on it.     

＂Micro-deletions＂ of the human Y chromosome and their relationship with male infertility

The Y chromosome evolves from an autochromosome and accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes.The human Y chromosome (60 Mb long) is largely composed of repeti-tive sequences that give it a heterochromatic appearance,and it consists of pseudoautosomal,euchromatic,and heterochromatic regions.Located on the two extremities of the Y chromosome,pseudoautosomal regions 1 and 2 (PAR1 and PAR2,2.6 Mb and 320 bp long,re-spectively) are homologs with the termini of the X chromosome.The euchromatic region and some of the repeat-rich heterochromatic parts of the Y chromosome are called "male-specific Y" (MSY),which occupy more than 95% of the whole Y chromosome.After evolu-tion,the Y chromosome becomes the smallest in size with the least number of genes but with the most number of copies of genes that are mostly spermatogenesis-related.The Y chromosome is characterized by highly repetitive sequences (including direct repeats,inverted repeats,and palindromes) and high polymorphism.Several gene rearrangements on the Y chromosome occur during evolution owing to its specific gene structure.The consequences of such rearrangements are not only loss but also gain of specific genes.One hundred and fifty three haplotypes have been discovered in the human Y chromosome.The structure of the Y chromosome in the GenBank belongs to haplotype R1.There are 220 genes (104 coding genes,111 pseudogenes,and 5 other uncategorized genes) according to the most recent count.The 104 coding genes encode a total of about 48 proteins/protein families (including putative proteins/protein families).Among them,16 gene products have been discovered in the azoospermia factor region (AZF) and are related to spermatogenesis.It has been dis-covered that one subset of gene rearrangements on the Y chromosome,"micro-deletions",is a major cause of male infertility in some populations.However,controversies exist about different Y chromosome haplotypes.Six AZFs of the Y chromosome have been discov-ered including AZFa,AZFb,AZFc,and their combinations AZFbc,AZFabc,and partial AZFc called AZFc/gr/gr.Different deletions in AZF lead to different content spermatogenesis loss from teratozoospermia to infertility in different populations depending on their Y hap-lotypes.This article describes the structure of the human Y chromosome and investigates the causes of micro-deletions and their relation-ship with male infertility from the view of chromosome evolution.After analysis of the relationship between AZFc and male infertility,we concluded that spermatogenesis is controlled by a network of genes,which may locate on the Y chromosome,the autochromosomes,or even on the X chromosome.Further investigation of the molecular mechanisms underlying male fertility/infertifity will facilitate our knowledge of functional genomics.     

Should Y stay or should Y go: The evolution of non‐recombining sex chromosomes

Gradual degradation seems inevitable for non‐recombining sex chromosomes. This has been supported by the observation of degenerated non‐recombining sex chromosomes in a variety of species. The human Y chromosome has also degenerated significantly during its evolution, and theories have been advanced that the Y chromosome could disappear within the next ～5 million years, if the degeneration rate it has experienced continues. However, recent studies suggest that this is unlikely. Conservative evolutionary forces such as strong purifying selection and intrachromosomal repair through gene conversion balance the degeneration tendency of the Y chromosome and maintain its integrity after an initial period of faster degeneration. We discuss the evidence both for and against the extinction of the Y chromosome. We also discuss potential insights gained on the evolution of sex‐determining chromosomes by studying simpler sex‐determining chromosomal regions of unicellular and multicellular microorganisms.     

Within‐population Y‐linked genetic variation for lifespan in Drosophila melanogaster

The view that the Y chromosome is of little importance for phenotypic evolution stems from early studies of Drosophila melanogaster. This species’ Y chromosome contains only 13 protein‐coding genes, is almost entirely heterochromatic and is not necessary for male viability. Population genetic theory further suggests that non‐neutral variation can only be maintained at the Y chromosome under special circumstances. Yet, recent studies suggest that the D. melanogaster Y chromosome trans‐regulates hundreds to thousands of X and autosomal genes. This finding suggests that the Y chromosome may play a far more active role in adaptive evolution than has previously been assumed. To evaluate the potential for the Y chromosome to contribute to phenotypic evolution from standing genetic variation, we test for Y‐linked variation in lifespan within a population of D. melanogaster. Assessing variation for lifespan provides a powerful test because lifespan (i) shows sexual dimorphism, which the Y is primarily predicted to contribute to, (ii) is influenced by many genes, which provides the Y with many potential regulatory targets and (iii) is sensitive to heterochromatin remodelling, a mechanism through which the Y chromosome is believed to regulate gene expression. Our results show a small but significant effect of the Y chromosome and thus suggest that the Y chromosome has the potential to respond to selection from standing genetic variation. Despite its small effect size, Y‐linked variation may still be important, in particular when evolution of sexual dimorphism is genetically constrained elsewhere in the genome.     

Sex chromosome specialization and degeneration in mammals

Sex chromosomes--particularly the human Y--have been a source of fascination for decades because of their unique transmission patterns and their peculiar cytology. The outpouring of genomic data confirms that their atypical structure and gene composition break the rules of genome organization, function, and evolution. The X has been shaped by dosage differences to have a biased gene content and to be subject to inactivation in females. The Y chromosome seems to be a product of a perverse evolutionary process that does not select the fittest Y, which may cause its degradation and ultimate extinction.     

Gene-Level,but Not Chromosome-Wide,Divergence between a Very Young House Fly Proto-Y Chromosome and Its Homologous Proto-X Chromosome

X and Y chromosomes are usually derived from a pair of homologous autosomes, which then diverge from each other over time. Although Y-specific features have been characterized in sex chromosomes of various ages, the earliest stages of Y chromosome evolution remain elusive. In particular, we do not know whether early stages of Y chromosome evolution consist of changes to individual genes or happen via chromosome-scale divergence from the X. To address this question, we quantified divergence between young proto-X and proto-Y chromosomes in the house fly, Musca domestica. We compared proto-sex chromosome sequence and gene expression between genotypic (XY) and sex-reversed (XX) males. We find evidence for sequence divergence between genes on the proto-X and proto-Y, including five genes with mitochondrial functions. There is also an excess of genes with divergent expression between the proto-X and proto-Y, but the number of genes is small. This suggests that individual proto-Y genes, but not the entire proto-Y chromosome, have diverged from the proto-X. We identified one gene, encoding an axonemal dynein assembly factor (which functions in sperm motility), that has higher expression in XY males than XX males because of a disproportionate contribution of the proto-Y allele to gene expression. The upregulation of the proto-Y allele may be favored in males because of this gene’s function in spermatogenesis. The evolutionary divergence between proto-X and proto-Y copies of this gene, as well as the mitochondrial genes, is consistent with selection in males affecting the evolution of individual genes during early Y chromosome evolution.     

Dynamic gene order on the <Emphasis Type="Italic">Silene latifolia</Emphasis> Y chromosome

Dioecious Silene latifolia evolved heteromorphic sex chromosomes within the last ten million years, making it a species of choice for studies of the early stages of sex chromosome evolution in plants. About a dozen genes have been isolated from its sex chromosomes and basic genetic and deletion maps exist for the X and Y chromosomes. However, discrepancies between Y chromosome maps led to the proposal that individual Y chromosomes may differ in gene order. Here, we use an alternative approach, with fluorescence in situ hybridization (FISH), to locate individual genes on S. latifolia sex chromosomes. We demonstrate that gene order on the Y chromosome differs between plants from two populations. We suggest that dynamic gene order may be a general property of Y chromosomes in species with XY systems, in view of recent work demonstrating that the gene order on the Y chromosomes of humans and chimpanzees are dramatically different.     

Weird mammals provide insights into the evolution of mammalian sex chromosomes and dosage compensation

The deep divergence of mammalian groups 166 and 190 million years ago (MYA) provide genetic variation to explore the evolution of DNA sequence, gene arrangement and regulation of gene expression in mammals. With encouragement from the founder of the field, Mary Lyon, techniques in cytogenetics and molecular biology were progressively adapted to characterize the sex chromosomes of kangaroos and other marsupials, platypus and echidna—and weird rodent species. Comparative gene mapping reveals the process of sex chromosome evolution from their inception 190 MYA (they are autosomal in platypus) to their inevitable end (the Y has disappeared in two rodent lineages). Our X and Y are relatively young, getting their start with the evolution of the sex-determining SRY gene, which triggered progressive degradation of the Y chromosome. Even more recently, sex chromosomes of placental mammals fused with an autosomal region which now makes up most of the Y. Exploration of gene activity patterns over four decades showed that dosage compensation via X-chromosome inactivation is unique to therian mammals, and that this whole chromosome control process is different in marsupials and absent in monotremes and reptiles, and birds. These differences can be exploited to deduce how mammalian sex chromosomes and epigenetic silencing evolved.     

Plant sex chromosomes: molecular structure and function

Recent molecular and genomic studies carried out in a number of model dioecious plant species, including Asparagus officinalis, Carica papaya, Silene latifolia, Rumex acetosa and Marchantia polymorpha, have shed light on the molecular structure of both homomorphic and heteromorphic sex chromosomes, and also on the gene functions they have maintained since their evolution from a pair of autosomes. The molecular structure of sex chromosomes in species from different plant families represents the evolutionary pathway followed by sex chromosomes during their evolution. The degree of Y chromosome degeneration that accompanies the suppression of recombination between the Xs and Ys differs among species. The primitive Ys of A. officinalis and C. papaya have only diverged from their homomorphic Xs in a short male-specific and non-recombining region (MSY), while the heteromorphic Ys of S. latifolia, R. acetosa and M. polymorpha have diverged from their respective Xs. As in the Y chromosomes of mammals and Drosophila, the accumulation of repetitive DNA, including both transposable elements and satellite DNA, has played an important role in the divergence and size enlargement of plant Ys, and consequently in reducing gene density. Nevertheless, the degeneration process in plants does not appear to have reached the Y-linked genes. Although a low gene density has been found in the sequenced Y chromosome of M. polymorpha, most of its genes are essential and are expressed in the vegetative and reproductive organs in both male and females. Similarly, most of the Y-linked genes that have been isolated and characterized up to now in S. latifolia are housekeeping genes that have X-linked homologues, and are therefore expressed in both males and females. Only one of them seems to be degenerate with respect to its homologous region in the X. Sequence analysis of larger regions in the homomorphic X and Y chromosomes of papaya and asparagus, and also in the heteromorphic sex chromosomes of S. latifolia and R. acetosa, will reveal the degenerative changes that the Y-linked gene functions have experienced during sex chromosome evolution.