Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome

The mammalian sex chromosomes are thought to be related to each other by sharing a common origin. That is, the X and Y chromosomes originally evolved from a pair of chromosomes that only differed at the locus determining sexual differentiation. For example, this evolutionary relationship is reflected during meiosis in chromosomal pairing between the tip of the human X chromosome short arm and the Y chromosome which presumably implies sequence homology. However, compelling genetic evidence for functional homology between the mammalian X and Y chromosome is lacking. We describe here the localization of a gene to the tip of the short arm of the human X chromosome and evidence for a related gene on the Y chromosome.     

轻型柔顺机械臂结构设计与控制

为了使机械臂具有较好的位置跟随性和人机交互时的安全性,设计了一款3DOF的轻型柔顺机械臂.采用碳纤维材料实现轻量化,设计了串联弹性驱动器(SEA)实现机械臂结构的柔顺性.建立了3DOF轻型柔顺机械臂的运动学和动力学模型,并求解了工作空间;设计机械臂的位置控制实验,通过MTI位姿传感器来获取机械臂末端位姿,提出了MTI位置误差修正的方法.实验表明:当机械臂处于自由状态时,通过对比机械臂各关节和MTI末端位置的跟随性能,得知1,2,3各关节的位置跟随误差分别为7%,5%,2%,末端X,Y,Z3个方向的最大位置误差分别为19.25%,14.43%,6.4%,证明该机械臂末端具有较好的位置跟随性.     

A candidate spermatogenesis gene on the mouse Y chromosome is homologous to ubiquitin-activating enzyme E1.

The human X-linked gene A1S9 complements a temperature-sensitive cell-cycle mutation in mouse L cells, and encodes the ubiquitin-activating enzyme E1. The gene has been reported to escape X-chromosome inactivation, but there is some conflicting evidence. We have isolated part of the mouse A1s9 gene, mapped it to the proximal portion of the X chromosome and shown that it undergoes normal X-inactivation. We also detected two copies of the gene on the short arm of the mouse Y chromosome (A1s9Y-1 and A1s9Y-2). The functional A1s9Y gene (A1s9Y-1) is expressed in testis and is lost in the deletion mutant Sxrb. Therefore A1s9Y-1 is a candidate for the spermatogenesis gene, Spy, which maps to this region. A1s9X is similar to the Zfx gene in undergoing X-inactivation, yet having homologous sequences on the short arm of the Y chromosome, which are expressed in the testis. These Y-linked genes may form part of a coregulated group of genes which function during spermatogenesis.     

Homologous expressed genes in the human sex chromosome pairing region

The human sex chromosomes share a pair of homologous genes which independently encode a cell-surface antigen defined by the monoclonal antibody 12E7 (refs 1, 2; see refs 3, 4 for review). The X-located homologue, MIC2X, escapes X-inactivation and the equivalent Y-located locus, MIC2Y, was one of the first genes shown to reside on a mammalian Y chromosome. By using a bacterial expression system we have previously cloned a complementary DNA sequence corresponding to a MIC2 gene and have used this probe to show that the MIC2X and MIC2Y loci are closely related, if not identical. Here we report the use of the cloned probe to confirm the localization of the MIC2X locus to the region Xpter-Xp22.32 (ref. 7) and demonstrate, for the first time, that the MIC2Y locus is located on the short arm of the Y chromosome in the distal region Ypter-Yp11.2. The MIC2 sequences and the sequences described in the accompanying papers by Cooke et al. and Simmler et al. are the first which have been shown to be shared by the sex chromosomes in the pairing region.     

穿戴式手枪射击稳定装置动力学仿真研究

为减小手枪射击时射击轨迹与瞄准基线的偏差,以子弹运动的方向为X轴正方向,与X轴垂直向上的方向为Y轴正方向设计了一种基于上臂外骨骼方案的手枪射击稳定装置。该装置通过限制手掌在X和Y方向上的运动及手腕关节处的转动来实现减小抖动的目的。分析了人体关节的阻抗类型,建立了手掌在射击前和射击后以及穿戴与未穿戴稳定装置状态下的运动方程,通过动力学仿真软件ADAMS计算手掌在X和Y方向上的速度和位移。得到的仿真结果表明方案达到了预期效果,并且在Y方向对位移的作用效果显著。     

Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males

In most human 'XX males', DNA sequences normally found on Yp, the short arm of the Y chromosome, are present on Xp, the short arm of the X chromosome. To establish whether this transfer involves a terminal portion of Yp, and whether a terminal portion of Xp is lost in the process, we followed the inheritance of pseudoautosomal restriction fragment length polymorphisms in two XX-male families. One XX male apparently inherited the entire pseudoautosomal region of his father's Y chromosome and no part of the pseudoautosomal region of his father's X chromosome. The second XX male also inherited the entire pseudoautosomal region of his father's Y, but in addition inherited a proximal portion of the pseudoautosomal region of his father's X. These findings argue that XX males result from the transfer of a terminal portion of Yp onto Xp in exchange for a terminal portion of Xp (ref. 7). This implies that the testis-determining factor gene (TDF) maps distally in the strictly sex-linked portion of Yp, near the pseudoautosomal domain. The XX males described here appear to result from single (and, at least in the second case, unequal) crossovers proximal to the pseudoautosomal region on Yp and proximal to or within the pseudoautosomal region on Xp.     

Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome

The mammalian Y chromosome encodes a testis-determining factor (termed TDF in the human), a master regulator of sex differentiation. Embryos with a Y chromosome develop testes and become males whereas embryos lacking a Y chromosome develop ovaries and become females. Expression of H-Y, a minor histocompatibility antigen, may also be controlled by a gene on the Y chromosome, and it has been proposed that this antigen is the testis-determining factor. We have tested the postulated identity of H-Y and TDF in the human. H-Y typing with T cells was carried out on a series of sex-reversed humans (XX males and XY females), each shown by DNA hybridization to carry part but not all of the Y chromosome. This deletion analysis maps the gene for H-Y to the long arm or centromeric region of the human Y chromosome, far from the TDF locus, which maps to the distal short arm.     

Closely related sequences on human X and Y chromosomes outside the pairing region

During meiosis the human X and Y chromosomes form a synaptonemal complex which covers most of Yp and the terminal 30% of Xp (ref. 1). By analogy with the autosomes, this is presumed to reflect DNA sequence homology. It has been suggested that these regions of the X and Y chromosomes contain either related or identical loci which are distal to a site of cross-over, and support for these ideas has come from the finding that an X-linked cell-surface antigen controlling gene MIC2 is related to a gene on the Y chromosome. A number of DNA sequences have been shown to occur either on the X and Y chromosomes or on the X, Y and autosomes. We have now isolated a sequence from the Y chromosome which is present on Xq and Yq. This region lies well outside the pairing segments, and sequence analysis reveals no base change in 1 kilobase pair (kb). This high degree of similarity between the X and Y chromosomes near the tips of the long arms is a strong indication that interchange can occur in this region.     

牦牛(Bos Grunniens)染色体高分辨G带带型的研究

由麦洼牦牛(公26,母8)颈静脉采血,经Brdu处理,结合胰酶G显带法,制备牦牛染色体高分辨G带标本,绘制出牦牛染色体高分辨G带模式图,并进行染色体区带划分和命名。结果是牦牛常染色体均为近端点着丝粒染色体,X、Y染色体为亚中部着丝粒染色体。单套染色体的G带数(含X、Y染色体)为641条,划分为108个区,牦牛染色体高分辨G带带型同普通牛染色体G带带型以及高分辨R带带型相比较,其X染色体基本相似,而Y染色体和常染色体有较大差异,这对今后深入探讨牦牛的雄性不育是有意义的。     

Population structure of the human pseudoautosomal boundary

The mammalian sex chromosomes are composed of two genetically distinct segments: the pseudoautosomal region, where recombination occurs between the X and Y chromosomes, and the sex chromosome-specific parts. Between these two segments the human sex chromosomes differ by the insertion of an Alu element on the Y chromosome. We have surveyed the sequence variation in the boundary region using the polymerase chain reaction. Fifty seven Y and sixty X chromosomes from ten different human populations were analysed. The X chromosomes were found to be polymorphic at five positions in a 300-base-pair region. By contrast, all Y chromosomes were identical except for one distal polymorphism shared with the X chromosome.     

Exoskeleton arm with force feedback for robot bilateral teleoperation

A novel 6 degrees of freedom (DOFs) wearable exoskeleton arm,ZJUESA,based on man-machine system is present- ed.It can be used in robot bilateral teleoperation as master arm with force-feedback.With introducing the revolute-prismatic-spherical (RPS) parallel mechanism and planetary gear mechanism,it is designed based on the anatomy of human upper-limb.With the sensors on this external mechanical structure,the human operator motion is detected and converted to the slave robot control command.Additionally the pneumatic system on it generates a force feedback by using hybrid fuzzy control.As a result,the human operator may have a feeling of doing the work directly.     

Exoskeleton arm with force feedback for robot bilateral teleoperation

A novel 6 degrees of freedom (DOFs) wearable exoskeleton arm, ZJUESA, based on man-machine system is presented. It can be used in robot bilateral teleoperation as master arm with force-feedback. With introducing the revolute-prismatic-spherical (RPS) parallel mechanism and planetary gear mechanism, it is designed based on the anatomy of human upper-limb. With the sensors on this external mechanical structure, the human operator motion is detected and converted to the slave robot control command. Additionally the pneumatic system on it generates a force feedback by using hybrid fuzzy control. As a result, the human operator may have a feeling of doing the work directly.     

矿用立爪式装载机小臂油缸性能优化方法

首先提出了矿用立爪式装载机的小臂油缸工作过程中存在的2个问题，然后针对这2个问题提出了优化方法，即采用缓冲油缸和差动油缸。用AMESim软件对缓冲油缸的效果进行了仿真分析．最后对差动油缸的速度和推力进行了计算，提出了比较合理的优化方案．     

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

Pairing of human X and Y chromosomes during meiosis initiates within the so-called pairing region at the telomeres or the chromosome short arms. Using DNA from the Y chromosome we found sequence homology in the pairing region of the human X and Y chromosomes. This DNA is telomeric, contains repetitive sequences and is highly polymorphic in the population. The polymorphism has allowed family studies which show the sequences are not inherited as though linked to the sex chromosomes. This 'pseudoautosomal' pattern of inheritance points to an obligate recombination in the pairing region of the sex chromosomes during male meiosis.     

Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female

Whether a human embryo develops as a male or a female is determined by the presence of the Y chromosome. The sex-determining function lies entirely in interval 1A, inasmuch as most XX individuals with descended testes and normal male external genitalia carry this small region of the Y chromosome. We have localized an essential part of the sex-determining function to a portion of interval 1A, on the basis of the discovery of a female with a reciprocal Y;22 translocation and part of 1A deleted at the translocation breakpoint. Recently, a paradox has arisen with the report of four partially masculinized XX individuals who carry only a portion of interval 1A--a portion that does not overlap the deletion in the X,t(Y;22) female. These recent findings imply that the sex-determining function lies in the portion of 1A present in the four XX intersexes and not in the portion deleted in the X,t(Y;22) female. To explain the X,t(Y;22) individual, it was proposed that she was female because of a chromosomal position effect or delayed development of the gonadal soma. Here we report that the X,t(Y;22) female has a deletion of a second portion of interval 1A--a portion corresponding closely to that present in the XX intersexes. This resolves the apparent contradiction. Nonetheless, phenotype-genotype correlations suggest that two or more genetic elements in interval 1A may contribute to the sex-determining function of the Y chromosome. The X,t(Y;22) female lacks the ZFY gene but does not exhibit the complex phenotype known as Turner's syndrome, arguing against the hypothesis that ZFY is the Turner's syndrome gene on the Y chromosome.     

A-XY~*的Moore-Penrose逆

设A是一个C*-代数,对于任意的HilbertA-模K和H,令L(H,K)表示K到H上的可共轭算子全体,A是L(H,H)的一个可逆元,X,y是L(K,H)上的两个算子且满足X,Y,A-XT*都有闭值域.记X1=A-1X,Y1=(A-1)·Y,QX1=IH-X1X+1,QY1=IH-Y1Y+1,其中IH是H上的恒等算子,X+1,Y+1分别是X,Y的Moore-Pence逆.证明了Moore-Penrose逆(A-XY*)*=QX1A-1QY1的充分必要条件是:Y*1XY*1=Y*1,且XY*1X=X.     

Human p53 gene localized to short arm of chromosome 17

The p53 gene codes for a nuclear protein that has an important role in normal cellular replication. The concentration of p53 protein is frequently elevated in transformed cells. Transfection studies show that the p53 gene, in collaboration with the activated ras oncogene, can transform cells. Chromosomal localization may provide a better understanding of the relationship of p53 to other human cellular genes and of its possible role in malignancies associated with specific chromosomal rearrangements. A recent study mapped the human p53 gene to the long arm of chromosome 17 (17q21-q22) using in situ chromosomal hybridization. Here, by Southern filter hybridization of DNAs from human-rodent hybrids, we have localized the p53 gene to the short arm of human chromosome 17.     

The DNA sequence of the human X chromosome

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.     

J.H.C.Whitehead定理推广及应用

在代数拓扑学中J.H.C.Whitehead定理经常用到。本文给了此定理     

舍蝇染色体组型分析

本文对舍蝇的染色体组型进行了分析研究,绘制了组型模式图。舍蝇的染色体组型2n=12,染色体臂数为24(N.F),配成六对。五对染色体属于中部和亚中部着丝粒染色体,其中有一对为异型染色体(X、Y)。舍蝇染色体组型的分析为研究其他家蝇的分类,亲缘关系提供了参考资料。