Sample records for chromosome poleward movement

  1. Kinetochore-independent chromosome poleward movement during anaphase of meiosis II in mouse eggs.

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    Manqi Deng

    Full Text Available Kinetochores are considered to be the key structures that physically connect spindle microtubules to the chromosomes and play an important role in chromosome segregation during mitosis. Due to different mechanisms of spindle assembly between centrosome-containing mitotic cells and acentrosomal meiotic oocytes, it is unclear how a meiotic spindle generates the poleward forces to drive two rounds of meiotic chromosome segregation to achieve genome haploidization. We took advantage of the fact that DNA beads are able to induce bipolar spindle formation without kinetochores and studied the behavior of DNA beads in the induced spindle in mouse eggs during meiosis II. Interestingly, DNA beads underwent poleward movements that were similar in timing and speed to the meiotic chromosomes, although all the beads moved together to the same spindle pole. Disruption of dynein function abolished the poleward movements of DNA beads but not of the meiotic chromosomes, suggesting the existence of different dynein-dependent and dynein-independent force generation mechanisms for the chromosome poleward movement, and the latter may be dependent on the presence of kinetochores. Consistent with the observed DNA bead poleward movement, sperm haploid chromatin (which also induced bipolar spindle formation after injection to a metaphase egg without forming detectable kinetochore structures also underwent similar poleward movement at anaphase as DNA beads. The results suggest that in the chromatin-induced meiotic spindles, kinetochore attachments to spindle microtubules are not absolutely required for chromatin poleward movements at anaphase.

  2. Movement of chromosomes with severed kinetochore microtubules. (United States)

    Forer, Arthur; Johansen, Kristen M; Johansen, Jørgen


    Experiments dating from 1966 and thereafter showed that anaphase chromosomes continued to move poleward after their kinetochore microtubules were severed by ultraviolet microbeam irradiation. These observations were initially met with scepticism as they contradicted the prevailing view that kinetochore fibre microtubules pulled chromosomes to the pole. However, recent experiments using visible light laser microbeam irradiations have corroborated these earlier experiments as anaphase chromosomes again were shown to move poleward after their kinetochore microtubules were severed. Thus, multiple independent studies using different techniques have shown that chromosomes can indeed move poleward without direct microtubule connections to the pole, with only a kinetochore 'stub' of microtubules. An issue not yet settled is: what propels the disconnected chromosome? There are two not necessarily mutually exclusive proposals in the literature: (1) chromosome movement is propelled by the kinetochore stub interacting with non-kinetochore microtubules and (2) chromosome movement is propelled by a spindle matrix acting on the stub. In this review, we summarise the data indicating that chromosomes can move with severed kinetochore microtubules and we discuss proposed mechanisms for chromosome movement with severed kinetochore microtubules.

  3. Kinetochore dynein generates a poleward pulling force to facilitate congression and full chromosome alignment

    Institute of Scientific and Technical Information of China (English)

    Yan Li; Wei Yu; Yun Liang; Xueliang Zhu


    For proper chromosome segregation, all kinetochores must achieve bipolar microtubule (MT) attachment and subsequently align at the spindle equator before anaphase onset. The MT minus end-directed motor dynein/dynactin binds kinetochores in prometaphase and has long been implicated in chromosome congression. Unfortunately, inactivation of dynein usually disturbs spindle organization, thus hampering evaluation of its kinetochore roles. Here we specifically eliminated kinetochore dynein/dynactin by RNAi-mediated depletion of ZW10, a protein essential for kinetochore localization of the motor. Time-lapse microscopy indicated markedly-reduced congression efficiency, though congressing chromosomes displayed similar velocities as in control cells. Moreover, cells frequently failed to achieve full chromosome alignment, despite their normal spindles. Confocal microcopy revealed that the misaligned kinetochores were monoori-ented or unattached and mostly lying outside the spindle, suggesting a difficulty to capture MTs from the opposite pole. Kinetochores on monoastral spindles were dispersed farther away from the pole and exhibited only mild oscillation. Furthermore, inactivating dynein by other means generated similar phenotypes. Therefore, kinetochore dynein produces on monooriented kinetochores a poleward pulling force, which may contribute to efficient bipolar attachment by facilitating their proper microtubule captures to promote congression as well as full chromosome alignment.

  4. Chromosome congression explained by nanoscale electrostatics. (United States)

    Gagliardi, L John; Shain, Daniel H


    Nanoscale electrostatic microtubule disassembly forces between positively charged molecules in kinetochores and negative charges on plus ends of microtubules have been implicated in poleward chromosome motions and may also contribute to antipoleward chromosome movements. We propose that chromosome congression can be understood in terms of antipoleward nanoscale electrostatic microtubule assembly forces between negatively charged microtubule plus ends and like-charged chromosome arms, acting in conjunction with poleward microtubule disassembly forces. Several other aspects of post-attachment prometaphase chromosome motions, as well as metaphase oscillations, are consistently explained within this framework.

  5. Chromosomal gene movements reflect the recent origin and biology of therian sex chromosomes.

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    Lukasz Potrzebowski


    Full Text Available Mammalian sex chromosomes stem from ancestral autosomes and have substantially differentiated. It was shown that X-linked genes have generated duplicate intronless gene copies (retrogenes on autosomes due to this differentiation. However, the precise driving forces for this out-of-X gene "movement" and its evolutionary onset are not known. Based on expression analyses of male germ-cell populations, we here substantiate and extend the hypothesis that autosomal retrogenes functionally compensate for the silencing of their X-linked housekeeping parental genes during, but also after, male meiotic sex chromosome inactivation (MSCI. Thus, sexually antagonistic forces have not played a major role for the selective fixation of X-derived gene copies in mammals. Our dating analyses reveal that although retrogenes were produced ever since the common mammalian ancestor, selectively driven retrogene export from the X only started later, on the placental mammal (eutherian and marsupial (metatherian lineages, respectively. Together, these observations suggest that chromosome-wide MSCI emerged close to the eutherian-marsupial split approximately 180 million years ago. Given that MSCI probably reflects the spread of the recombination barrier between the X and Y, crucial for their differentiation, our data imply that these chromosomes became more widely differentiated only late in the therian ancestor, well after the divergence of the monotreme lineage. Thus, our study also provides strong independent support for the recent notion that our sex chromosomes emerged, not in the common ancestor of all mammals, but rather in the therian ancestor, and therefore are much younger than previously thought.

  6. The dissection of meiotic chromosome movement in mice using an in vivo electroporation technique.

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    Hiroki Shibuya


    Full Text Available During meiosis, the rapid movement of telomeres along the nuclear envelope (NE facilitates pairing/synapsis of homologous chromosomes. In mammals, the mechanical properties of chromosome movement and the cytoskeletal structures responsible for it remain poorly understood. Here, applying an in vivo electroporation (EP technique in live mouse testis, we achieved the quick visualization of telomere, chromosome axis and microtubule organizing center (MTOC movements. For the first time, we defined prophase sub-stages of live spermatocytes morphologically according to GFP-TRF1 and GFP-SCP3 signals. We show that rapid telomere movement and subsequent nuclear rotation persist from leptotene/zygotene to pachytene, and then decline in diplotene stage concomitant with the liberation of SUN1 from telomeres. Further, during bouquet stage, telomeres are constrained near the MTOC, resulting in the transient suppression of telomere mobility and nuclear rotation. MTs are responsible for these movements by forming cable-like structures on the NE, and, probably, by facilitating the rail-tacking movements of telomeres on the MT cables. In contrast, actin regulates the oscillatory changes in nuclear shape. Our data provide the mechanical scheme for meiotic chromosome movement throughout prophase I in mammals.

  7. The dissection of meiotic chromosome movement in mice using an in vivo electroporation technique. (United States)

    Shibuya, Hiroki; Morimoto, Akihiro; Watanabe, Yoshinori


    During meiosis, the rapid movement of telomeres along the nuclear envelope (NE) facilitates pairing/synapsis of homologous chromosomes. In mammals, the mechanical properties of chromosome movement and the cytoskeletal structures responsible for it remain poorly understood. Here, applying an in vivo electroporation (EP) technique in live mouse testis, we achieved the quick visualization of telomere, chromosome axis and microtubule organizing center (MTOC) movements. For the first time, we defined prophase sub-stages of live spermatocytes morphologically according to GFP-TRF1 and GFP-SCP3 signals. We show that rapid telomere movement and subsequent nuclear rotation persist from leptotene/zygotene to pachytene, and then decline in diplotene stage concomitant with the liberation of SUN1 from telomeres. Further, during bouquet stage, telomeres are constrained near the MTOC, resulting in the transient suppression of telomere mobility and nuclear rotation. MTs are responsible for these movements by forming cable-like structures on the NE, and, probably, by facilitating the rail-tacking movements of telomeres on the MT cables. In contrast, actin regulates the oscillatory changes in nuclear shape. Our data provide the mechanical scheme for meiotic chromosome movement throughout prophase I in mammals.

  8. Computer simulations predict that chromosome movements and rotations accelerate mitotic spindle assembly without compromising accuracy. (United States)

    Paul, Raja; Wollman, Roy; Silkworth, William T; Nardi, Isaac K; Cimini, Daniela; Mogilner, Alex


    The mitotic spindle self-assembles in prometaphase by a combination of centrosomal pathway, in which dynamically unstable microtubules search in space until chromosomes are captured, and a chromosomal pathway, in which microtubules grow from chromosomes and focus to the spindle poles. Quantitative mechanistic understanding of how spindle assembly can be both fast and accurate is lacking. Specifically, it is unclear how, if at all, chromosome movements and combining the centrosomal and chromosomal pathways affect the assembly speed and accuracy. We used computer simulations and high-resolution microscopy to test plausible pathways of spindle assembly in realistic geometry. Our results suggest that an optimal combination of centrosomal and chromosomal pathways, spatially biased microtubule growth, and chromosome movements and rotations is needed to complete prometaphase in 10-20 min while keeping erroneous merotelic attachments down to a few percent. The simulations also provide kinetic constraints for alternative error correction mechanisms, shed light on the dual role of chromosome arm volume, and compare well with experimental data for bipolar and multipolar HT-29 colorectal cancer cells.

  9. Creating a Double-Spring Model to Teach Chromosome Movement during Mitosis & Meiosis (United States)

    Luo, Peigao


    The comprehension of chromosome movement during mitosis and meiosis is essential for understanding genetic transmission, but students often find this process difficult to grasp in a classroom setting. I propose a "double-spring model" that incorporates a physical demonstration and can be used as a teaching tool to help students understand this…

  10. On the origin of crossover interference: A chromosome oscillatory movement (COM model

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    Hultén Maj A


    Full Text Available Abstract Background It is now nearly a century since it was first discovered that crossovers between homologous parental chromosomes, originating at the Prophase stage of Meiosis I, are not randomly placed. In fact, the number and distribution of crossovers are strictly regulated with crossovers/chiasmata formed in optimal positions along the length of individual chromosomes, facilitating regular chromosome segregation at the first meiotic division. In spite of much research addressing this question, the underlying mechanism(s for the phenomenon called crossover/chiasma interference is/are still unknown; and this constitutes an outstanding biological enigma. Results The Chromosome Oscillatory Movement (COM model for crossover/chiasma interference implies that, during Prophase of Meiosis I, oscillatory movements of the telomeres (attached to the nuclear membrane and the kinetochores (within the centromeres create waves along the length of chromosome pairs (bivalents so that crossing-over and chiasma formation is facilitated by the proximity of parental homologs induced at the nodal regions of the waves thus created. This model adequately explains the salient features of crossover/chiasma interference, where (1 there is normally at least one crossover/chiasma per bivalent, (2 the number is correlated to bivalent length, (3 the positions are dependent on the number per bivalent, (4 interference distances are on average longer over the centromere than along chromosome arms, and (5 there are significant changes in carriers of structural chromosome rearrangements. Conclusions The crossover/chiasma frequency distribution in humans and mice with normal karyotypes as well as in carriers of structural chromosome rearrangements are those expected on the COM model. Further studies are underway to analyze mechanical/mathematical aspects of this model for the origin of crossover/chiasma interference, using string replicas of the homologous chromosomes at the

  11. No excess gene movement is detected off the avian or lepidopteran Z chromosome. (United States)

    Toups, Melissa A; Pease, James B; Hahn, Matthew W


    Most of our knowledge of sex-chromosome evolution comes from male heterogametic (XX/XY) taxa. With the genome sequencing of multiple female heterogametic (ZZ/ZW) taxa, we can now ask whether there are patterns of evolution common to both sex chromosome systems. In all XX/XY systems examined to date, there is an excess of testis-biased retrogenes moving from the X chromosome to the autosomes, which is hypothesized to result from either sexually antagonistic selection or escape from meiotic sex chromosome inactivation (MSCI). We examined RNA-mediated (retrotransposed) and DNA-mediated gene movement in two independently evolved ZZ/ZW systems, birds (chicken and zebra finch) and lepidopterans (silkworm). Even with sexually antagonistic selection likely operating in both taxa and MSCI having been identified in the chicken, we find no evidence for an excess of genes moving from the Z chromosome to the autosomes in either lineage. We detected no excess for either RNA- or DNA-mediated duplicates, across a range of approaches and methods. We offer some potential explanations for this difference between XX/XY and ZZ/ZW sex chromosome systems, but further work is needed to distinguish among these hypotheses. Regardless of the root causes, we have identified an additional, potentially inherent, difference between XX/XY and ZZ/ZW systems.

  12. The Ndc80 complex uses a tripartite attachment point to couple microtubule depolymerization to chromosome movement. (United States)

    Tooley, John G; Miller, Stephanie A; Stukenberg, P Todd


    In kinetochores, the Ndc80 complex couples the energy in a depolymerizing microtubule to perform the work of moving chromosomes. The complex directly binds microtubules using an unstructured, positively charged N-terminal tail located on Hec1/Ndc80. Hec1/Ndc80 also contains a calponin homology domain (CHD) that increases its affinity for microtubules in vitro, yet whether it is required in cells and how the tail and CHD work together are critical unanswered questions. Human kinetochores containing Hec1/Ndc80 with point mutations in the CHD fail to align chromosomes or form productive microtubule attachments. Kinetochore architecture and spindle checkpoint protein recruitment are unaffected in these mutants, and the loss of CHD function cannot be rescued by removing Aurora B sites from the tail. The interaction between the Hec1/Ndc80 CHD and a microtubule is facilitated by positively charged amino acids on two separate regions of the CHD, and both are required for kinetochores to make stable attachments to microtubules. Chromosome congression in cells also requires positive charge on the Hec1 tail to facilitate microtubule contact. In vitro binding data suggest that charge on the tail regulates attachment by directly increasing microtubule affinity as well as driving cooperative binding of the CHD. These data argue that in vertebrates there is a tripartite attachment point facilitating the interaction between Hec1/Ndc80 and microtubules. We discuss how such a complex microtubule-binding interface may facilitate the coupling of depolymerization to chromosome movement.

  13. Chromosome movements promoted by the mitochondrial protein SPD-3 are required for homology search during Caenorhabditis elegans meiosis.

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    Leticia Labrador


    Full Text Available Pairing of homologous chromosomes during early meiosis is essential to prevent the formation of aneuploid gametes. Chromosome pairing includes a step of homology search followed by the stabilization of homolog interactions by the synaptonemal complex (SC. These events coincide with dramatic changes in nuclear organization and rapid chromosome movements that depend on cytoskeletal motors and are mediated by SUN-domain proteins on the nuclear envelope, but how chromosome mobility contributes to the pairing process remains poorly understood. We show that defects in the mitochondria-localizing protein SPD-3 cause a defect in homolog pairing without impairing nuclear reorganization or SC assembly, which results in promiscuous installation of the SC between non-homologous chromosomes. Preventing SC assembly in spd-3 mutants does not improve homolog pairing, demonstrating that SPD-3 is required for homology search at the start of meiosis. Pairing center regions localize to SUN-1 aggregates at meiosis onset in spd-3 mutants; and pairing-promoting proteins, including cytoskeletal motors and polo-like kinase 2, are normally recruited to the nuclear envelope. However, quantitative analysis of SUN-1 aggregate movement in spd-3 mutants demonstrates a clear reduction in mobility, although this defect is not as severe as that seen in sun-1(jf18 mutants, which also show a stronger pairing defect, suggesting a correlation between chromosome-end mobility and the efficiency of pairing. SUN-1 aggregate movement is also impaired following inhibition of mitochondrial respiration or dynein knockdown, suggesting that mitochondrial function is required for motor-driven SUN-1 movement. The reduced chromosome-end mobility of spd-3 mutants impairs coupling of SC assembly to homology recognition and causes a delay in meiotic progression mediated by HORMA-domain protein HTP-1. Our work reveals how chromosome mobility impacts the different early meiotic events that promote

  14. Chromosome (United States)

    Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA ... is the building block of the human body. Chromosomes also contain proteins that help DNA exist in ...

  15. ATPase Cycle of the Nonmotile Kinesin NOD Allows Microtubule End Tracking and Drives Chromosome Movement

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    Cochran, J.; Sindelar, C; Mulko, N; Collins, K; Kong, S; Hawley, R; Kull, F


    Segregation of nonexchange chromosomes during Drosophila melanogaster meiosis requires the proper function of NOD, a nonmotile kinesin-10. We have determined the X-ray crystal structure of the NOD catalytic domain in the ADP- and AMPPNP-bound states. These structures reveal an alternate conformation of the microtubule binding region as well as a nucleotide-sensitive relay of hydrogen bonds at the active site. Additionally, a cryo-electron microscopy reconstruction of the nucleotide-free microtubule-NOD complex shows an atypical binding orientation. Thermodynamic studies show that NOD binds tightly to microtubules in the nucleotide-free state, yet other nucleotide states, including AMPPNP, are weakened. Our pre-steady-state kinetic analysis demonstrates that NOD interaction with microtubules occurs slowly with weak activation of ADP product release. Upon rapid substrate binding, NOD detaches from the microtubule prior to the rate-limiting step of ATP hydrolysis, which is also atypical for a kinesin. We propose a model for NOD's microtubule plus-end tracking that drives chromosome movement.

  16. Contribution of Oceanic Circulation to the Poleward Heat Flux

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    HUANG Ruixin


    Oceanic contribution to the poleward heat flux in the climate system includes two components: the sensible heat flux and the latent heat flux. Although the latent heat flux has been classified as atmospheric heat flux exclusively, it is argued that oceanic control over this component of poleward heat flux should play a critically important role. The so-called swamp ocean model practice is analyzed in detail, and the critical role of oceanic circulation in the establishment of the meridional moisture transport is emphasized.

  17. Is Climate Change Shifting the Poleward Limit of Mangroves?

    KAUST Repository

    Hickey, Sharyn M.


    Ecological (poleward) regime shifts are a predicted response to climate change and have been well documented in terrestrial and more recently ocean species. Coastal zones are amongst the most susceptible ecosystems to the impacts of climate change, yet studies particularly focused on mangroves are lacking. Recent studies have highlighted the critical ecosystem services mangroves provide, yet there is a lack of data on temporal global population response. This study tests the notion that mangroves are migrating poleward at their biogeographical limits across the globe in line with climate change. A coupled systematic approach utilising literature and land surface and air temperature data was used to determine and validate the global poleward extent of the mangrove population. Our findings indicate that whilst temperature (land and air) have both increased across the analysed time periods, the data we located showed that mangroves were not consistently extending their latitudinal range across the globe. Mangroves, unlike other marine and terrestrial taxa, do not appear to be experiencing a poleward range expansion despite warming occurring at the present distributional limits. Understanding failure for mangroves to realise the global expansion facilitated by climate warming may require a focus on local constraints, including local anthropogenic pressures and impacts, oceanographic, hydrological, and topographical conditions.

  18. Centrosome dynamics as a source of chromosomal instability. (United States)

    Nam, Hyun-Ja; Naylor, Ryan M; van Deursen, Jan M


    Accurate segregation of duplicated chromosomes between two daughter cells depends on bipolar spindle formation, a metaphase state in which sister kinetochores are attached to microtubules emanating from opposite spindle poles. To ensure bi-orientation, cells possess surveillance systems that safeguard against microtubule-kinetochore attachment defects, including the spindle assembly checkpoint and the error correction machinery. However, recent developments have identified centrosome dynamics--that is, centrosome disjunction and poleward movement of duplicated centrosomes--as a central target for deregulation of bi-orientation in cancer cells. In this review, we discuss novel insights into the mechanisms that underlie centrosome dynamics and discuss how these mechanisms are perturbed in cancer cells to drive chromosome mis-segregation and advance neoplastic transformation.

  19. [Tripartite motif-containing protein 34 (TRIM34) colocalized with micronuclei chromosome and hampers its movement to equatorial plate during the metaphase stage of mitosis]. (United States)

    Sun, Dakang; An, Xinye; Ji, Bing; Cheng, Yanli; Gao, Honglian; Tian, Mingming


    Objective To examine whether tripartite motif-containing protein 34 (TRIM34) is colocalized with micronuclei and investigate the influence on the movement of micronuclei chromosome in mitosis. Methods The eukaryotic expression vector TRIM34-pEGFP-N3 was constructed, identified and then transfected into HEK293T cells. With 4', 6-diamidino-2-phenylindole 2HCI (DAPI) staining, the colocalization between TRIM34 and micronuclei was observed under a fluorescence microscope. Moreover, MitoTracker(R)Deep Red was used to identify the colocalization between the complex of TRIM34-micronulei and mitochondria under a confocal microscope. Finally, the effect of TRIM34 on the movement of micronuclei chromosome in mitosis was examined. Results DNA sequencing confirmed that the vector TRIM34-pEGFP-N3 was constructed successfully. A fluorescence microscope revealed that TRIM34 could be colocalized with micronuclei in HEK293T cells transfected with TRIM34-pEGFP-N3. In the same manner, a confocal microscope distinctly showed that TRIM34 was colocalized with micronuclei similarly in appearance. However, there was no distinguished colocalization relationship between the complex of TRIM34-micronulei and mitochondria. Interestingly, the micronuclei chromosome conjugated with TRIM34 was hardly transferred to equatorial plate during the metaphase stage of mitosis. Conclusion TRIM34 is colocalized with micronuclei chromosome and hampers its movement to equatorial plate in mitosis.

  20. Poleward Expansion of the Hadley Circulation in CMIP5 Simulations

    Institute of Scientific and Technical Information of China (English)

    HU Yongyun; TAO Lijun; LIU Jiping


    Observational analyses have demonstrated that the Hadley circulation has expanded poleward in recent decades.Important issues are what caused the widening of the Hadley circulation and whether the observed widening is related to anthropogenic forcing.In the present study,we use currently available simulations of the Coupled Model Intercomparison Project Phase-5 (CMIP5) to analyze changes in the width of the Hadley circulation.It is found that CMIP5 historical simulations with greenhouse gas (GHG) forcing generate a total widening of ~0.15°±0.06° in latitude (10 yr)-1 for the period 1979-2005,and the widening in CMIP5 historical simulations with all forcings is ~0.17° ± 0.06° per decade.Similar to that in CMIP3,the simulated poleward expansion in CMIP5 is much weaker than the observational reanalyses.In CMIP5 projection simulations for the 21st century,magnitudes of widening of the Hadley circulation increase with radiative forcing.For the extreme projected radiative forcing of RCP8.5,the total annual-mean widening of the Hadley circulation is ~ 0.27° ± 0.04° (10 yr)-1 in the 21st century.Although CMIP5 underestimates observed poleward expansion of the Hadley circulation,the results of this study suggest that the observed trends in the width of the Hadley circulation are caused by anthropogenic forcing and that increasing GHGs play an important role in the observed poleward expansion of the Hadley circulation,in addition to other forcings emphasized in previous studies.

  1. Mangrove expansion and salt marsh decline at mangrove poleward limits. (United States)

    Saintilan, Neil; Wilson, Nicholas C; Rogers, Kerrylee; Rajkaran, Anusha; Krauss, Ken W


    Mangroves are species of halophytic intertidal trees and shrubs derived from tropical genera and are likely delimited in latitudinal range by varying sensitivity to cold. There is now sufficient evidence that mangrove species have proliferated at or near their poleward limits on at least five continents over the past half century, at the expense of salt marsh. Avicennia is the most cold-tolerant genus worldwide, and is the subject of most of the observed changes. Avicennia germinans has extended in range along the USA Atlantic coast and expanded into salt marsh as a consequence of lower frost frequency and intensity in the southern USA. The genus has also expanded into salt marsh at its southern limit in Peru, and on the Pacific coast of Mexico. Mangroves of several species have expanded in extent and replaced salt marsh where protected within mangrove reserves in Guangdong Province, China. In south-eastern Australia, the expansion of Avicennia marina into salt marshes is now well documented, and Rhizophora stylosa has extended its range southward, while showing strong population growth within estuaries along its southern limits in northern New South Wales. Avicennia marina has extended its range southwards in South Africa. The changes are consistent with the poleward extension of temperature thresholds coincident with sea-level rise, although the specific mechanism of range extension might be complicated by limitations on dispersal or other factors. The shift from salt marsh to mangrove dominance on subtropical and temperate shorelines has important implications for ecological structure, function, and global change adaptation.

  2. Co-variability of poleward propagating atmospheric energy with tropical and higher-latitude climate oscillations

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    Huang, Wan-Ru [Iowa State University, Department of Geological and Atmospheric Sciences, Ames, IA (United States); City University of Hong Kong, Guy Carpenter Asia-Pacific Climate Impact Centre, School of Energy and Environment, Kowloon, Hong Kong (China); Chen, Tsing-Chang [Iowa State University, Department of Geological and Atmospheric Sciences, Ames, IA (United States); Wang, Shih-Yu [Utah State University, Utah Climate Center and Department of Plants, Soils and Climate, Logan, UT (United States)


    One may infer from the poleward propagation of angular momentum that energy change in tropical regions may be manifested in polar regions through a poleward propagation. This idea does not seem to be extensively addressed in the literature. It has been found that the poleward propagation of total atmospheric energy appears to connect the tropics and the polar regions on the interannual timescale. The present study explores how this poleward propagation may be linked to prominent climate oscillations such as ENSO, PNA, NAO, AO, AAO, and PSA. Analysis suggests that the poleward propagation of energy is likely a result of the atmospheric circulation change modulated by the climate patterns of ENSO, PNA, NAO, AO from tropical to Arctic regions and by the climate patterns of ENSO, PSA, AAO from tropical to Antarctic regions. The existence of the poleward energy propagation may shed light on studies exploring the linkage between topical climate and polar climate. (orig.)

  3. Source of a Prominent Poleward Surge During Solar Cycle 24

    CERN Document Server

    Yeates, A R; van Driel-Gesztelyi, L


    As an observational case study, we consider the origin of a prominent poleward surge of leading polarity, visible in the magnetic butterfly diagram during Solar Cycle 24. A new technique is developed for assimilating individual regions of strong magnetic flux into a surface flux transport model. By isolating the contribution of each of these regions, the model shows the surge to originate primarily in a single high-latitude activity group consisting of a bipolar active region present in Carrington Rotations 2104-05 (November 2010-January 2011) and a multipolar active region in Rotations 2107-08 (February-April 2011). This group had a strong axial dipole moment opposed to Joy's law. On the other hand, the modelling suggests that the transient influence of this group on the butterfly diagram will not be matched by a large long-term contribution to the polar field, because of its location at high latitude. This is in accordance with previous flux transport models.

  4. Mangrove expansion and saltmarsh decline at mangrove poleward limits (United States)

    Saintilan, Neil; Wilson, Nicholas C.; Rogers, Kerrylee; Rajkaran, Anusha; Krauss, Ken W.


    Mangroves are species of halophytic intertidal trees and shrubs derived from tropical genera and are likely delimited in latitudinal range by varying sensitivity to cold. There is now sufficient evidence that mangrove species have proliferated at or near their poleward limits on at least five continents over the past half century, at the expense of salt marsh. Avicennia is the most cold-tolerant genus worldwide, and is the subject of most of the observed changes. Avicennia germinans has extended in range along the US Atlantic coast and expanded into salt marsh as a consequence of lower frost frequency and intensity in the southern USA. The genus has also expanded into salt marsh at its southern limit in Peru, and on the Pacific coast of Mexico. Mangroves of several species have expanded in extent and replaced salt marsh where protected within mangrove reserves in Guangdong Province. In south-eastern Australia, the expansion of Avicennia marina into salt marshes is now well documented, and Rhizophora stylosa has extended its range southward, while showing strong population growth within estuaries along its southern limits in northern New South Wales. Avicennia marina has extended its range southwards in South Africa. The changes are consistent with the pole-ward extension of temperature thresholds co-incident with sea-level rise, although the specific mechanism of range extension might be complicated by limitations on dispersal or other factors. The shift from salt marsh to mangrove dominance on subtropical and temperate shorelines has important implications for ecological structure, function, and global change adaptation.

  5. A Regulatory Switch Alters Chromosome Motions at the Metaphase-to-Anaphase Transition

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    Kuan-Chung Su


    Full Text Available To achieve chromosome segregation during mitosis, sister chromatids must undergo a dramatic change in their behavior to switch from balanced oscillations at the metaphase plate to directed poleward motion during anaphase. However, the factors that alter chromosome behavior at the metaphase-to-anaphase transition remain incompletely understood. Here, we perform time-lapse imaging to analyze anaphase chromosome dynamics in human cells. Using multiple directed biochemical, genetic, and physical perturbations, our results demonstrate that differences in the global phosphorylation states between metaphase and anaphase are the major determinant of chromosome motion dynamics. Indeed, causing a mitotic phosphorylation state to persist into anaphase produces dramatic metaphase-like oscillations. These induced oscillations depend on both kinetochore-derived and polar ejection forces that oppose poleward motion. Thus, our analysis of anaphase chromosome motion reveals that dephosphorylation of multiple mitotic substrates is required to suppress metaphase chromosome oscillatory motions and achieve directed poleward motion for successful chromosome segregation.

  6. Simultaneous storm time equatorward and poleward large-scale TIDs on a global scale (United States)

    Habarulema, John Bosco; Katamzi, Zama Thobeka; Yizengaw, Endawoke; Yamazaki, Yosuke; Seemala, Gopi


    We report on the first simultaneous observations of poleward and equatorward traveling ionospheric disturbances (TIDs) during the same geomagnetic storm period on a global scale. While poleward propagating TIDs originate from the geomagnetic equator region, equatorward propagating TIDs are launched from the auroral regions. On a global scale, we use total electron content observations from the Global Navigation Satellite Systems to show that these TIDs existed over South American, African, and Asian sectors. The American and African sectors exhibited predominantly strong poleward TIDs, while the Asian sector recorded mostly equatorward TIDs which crossed the geomagnetic equator to either hemisphere on 9 March 2012. However, both poleward and equatorward TIDs are simultaneously present in all three sectors. Using a combination of ground-based magnetometer observations and available low-latitude radar (JULIA) data, we have established and confirmed that poleward TIDs of geomagnetic equator origin are due to ionospheric electrodynamics, specifically changes in E × B vertical drift after the storm onset.

  7. Can molecular cell biology explain chromosome motions?

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    Gagliardi L


    Full Text Available Abstract Background Mitotic chromosome motions have recently been correlated with electrostatic forces, but a lingering "molecular cell biology" paradigm persists, proposing binding and release proteins or molecular geometries for force generation. Results Pole-facing kinetochore plates manifest positive charges and interact with negatively charged microtubule ends providing the motive force for poleward chromosome motions by classical electrostatics. This conceptual scheme explains dynamic tracking/coupling of kinetochores to microtubules and the simultaneous depolymerization of kinetochore microtubules as poleward force is generated. Conclusion We question here why cells would prefer complex molecular mechanisms to move chromosomes when direct electrostatic interactions between known bound charge distributions can accomplish the same task much more simply.

  8. Chromosomes on the move: The educational and neurological advantages of using body movement to teach cellular division (United States)

    Baumwoll, Alma Aron

    As education and neuroscience begin to merge, creating the new field of brain-based education, teachers are working to integrate scientific research into the classroom. While working to improve my own teaching, I developed a lesson plan to teach mitosis and meiosis through movement. My thesis reviews education theory and neuroscience to support using movement as a teaching tool in high-level, subject-based classrooms. I then outline my lesson plan and present my investigations of its effectiveness as demonstrated through short-term memory, long-term memory, and students' personal responses to the class. Two experiments were completed with biology lab sections at Northeastern University between 2009 and 2012; I taught my lesson to experimental groups while control groups learned through video-based lessons. The short-term study showed significant improvement in both the grades and enjoyment of the experimental groups. The long-term, retroactive study yielded no significant data, possibly due to weaknesses in the experimental design.

  9. Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia (United States)

    Ma, Yuanlin; Li, Jun; Yu, Hao; Wang, Lifang; Lu, Tianlan; Pan, Chao; Han, Yonghua; Zhang, Dai; Yue, Weihua


    Schizophrenia patients show abnormalities in many eye movement tasks. Among them, exploratory eye movements (EEM) dysfunction seems to be specific to schizophrenia. However the mechanism of EEM disturbances in schizophrenia patients remains elusive. We investigate the relationship between EEM and single nucleotide polymorphisms (SNPs) or genes to identify susceptibility loci for EEM in schizophrenia. We firstly performed EEM test, then performed a genome-wide association study (GWAS) and gene-based association study of EEM in 128 individuals with schizophrenia and 143 healthy control subjects. Comparing to healthy controls, schizophrenia patients show significant decrease in NEF (22.99 ± 3.96 vs. 26.02 ± 5.72, P <0.001), TESL (368.78 ± 123.57 vs. 603.12 ± 178.63, P <0.001), MESL (16.86 ± 5.27 vs. 24.42 ± 6.46, P <0.001), RSS (8.22 ± 1.56 vs. 10.92 ± 1.09, P <0.001), and CSS (5.06 ± 0.97 vs. 6.64 ± 0.87, P <0.001). Five SNPs of the MAN2A1, at 5q21.3, were associated with EEM abnormalities (deceased CSS) and satisfied the criteria of GWAS significance threshold. One is localized near 5’-UTR (rs17450784) and four are in intron (rs1438663, rs17162094, rs6877440 and rs10067856) of the gene. Our findings suggest that the identified loci may control the schizophrenia-related quantitative EEM trait. And the identified gene, associated with the EEM phenotype, may lead to new insights into the etiology of schizophrenia. PMID:26242244

  10. Synchronizing chromosome segregation by flux-dependent force equalization at kinetochores. (United States)

    Matos, Irina; Pereira, António J; Lince-Faria, Mariana; Cameron, Lisa A; Salmon, Edward D; Maiato, Helder


    The synchronous movement of chromosomes during anaphase ensures their correct inheritance in every cell division. This reflects the uniformity of spindle forces acting on chromosomes and their simultaneous entry into anaphase. Although anaphase onset is controlled by the spindle assembly checkpoint, it remains unknown how spindle forces are uniformly distributed among different chromosomes. In this paper, we show that tension uniformity at metaphase kinetochores and subsequent anaphase synchrony in Drosophila S2 cells are promoted by spindle microtubule flux. These results can be explained by a mechanical model of the spindle where microtubule poleward translocation events associated with flux reflect relaxation of the kinetochore-microtubule interface, which accounts for the redistribution and convergence of kinetochore tensions in a timescale comparable to typical metaphase duration. As predicted by the model, experimental acceleration of mitosis precludes tension equalization and anaphase synchrony. We propose that flux-dependent equalization of kinetochore tensions ensures a timely and uniform maturation of kinetochore-microtubule interfaces necessary for error-free and coordinated segregation of chromosomes in anaphase.

  11. High-resolution analysis of Y-chromosomal polymorphisms reveals signatures of population movements from Central Asia and West Asia into India

    Indian Academy of Sciences (India)

    Namita Mukherjee; Almut Nebel; Ariella Oppenheim; Partha P. Majumder


    Linguistic evidence suggests that West Asia and Central Asia have been the two major geographical sources of genes in the contemporary Indian gene pool. To test the nature and extent of similarities in the gene pools of these regions we have collected DNA samples from four ethnic populations of northern India, and have screened these samples for a set of 18 Y-chromosome polymorphic markers (12 unique event polymorphisms and six short tandem repeats). These data from Indian populations have been analysed in conjunction with published data from several West Asian and Central Asian populations. Our analyses have revealed traces of population movement from Central Asia and West Asia into India. Two haplogroups, HG-3 and HG-9, which are known to have arisen in the Central Asian region, are found in reasonably high frequencies (41.7% and 14.3% respectively) in the study populations. The ages estimated for these two haplogroups are less in the Indian populations than those estimated from data on Middle Eastern populations. A neighbour-joining tree based on Y-haplogroup frequencies shows that the North Indians are genetically placed between the West Asian and Central Asian populations. This is consistent with gene flow from West Asia and Central Asia into India.

  12. Lagrangian transport in poleward breaking Rossby waves in the North Atlantic - Europe tropopause region

    Energy Technology Data Exchange (ETDEWEB)

    Bartels, J.; Peters, D. [Rostock Univ. (Germany). Inst. fuer Atmosphaerenphysik


    The poleward advection of upper-tropospheric air is investigated for poleward Rossby wave breaking events. During boreal winter months the isentropic deformations of the tropopause are examined using maps of Ertel`s potential vorticity (EPV) and contour advection (CA) calculations. The role of ambient baro-tropic flow is further examined by idealized numerical models. In the vicinity of the tropopause the characteristic Lagrangian transport of air masses for ECMWF-analysis data are compared with high resolution (T106) ECHAM4 experiments. (author) 3 refs.

  13. Chromosome oscillations in mitosis (United States)

    Campas, Otger


    Successful cell division necessitates a tight regulation of chromosome movement via the activity of molecular motors. Many of the key players at the origin of the forces generating the motion have been identified, but their spatial and temporal organization remains elusive. In animal cells, chromosomes periodically switch between phases of movement towards and away from the pole. This characteristic oscillatory behaviour cannot be explained by the current models of chromosome positioning and congression. We perform a self-contained theoretical analysis in which the motion of mono-oriented chromosomes results from the competition between the activity of the kinetochore and chromokinesin motors on the chromosome arms. Our analysis, consistent with the available experimental data, proposes that the interplay between the aster-like morphology of the spindle and the collective kinetics of molecular motors is at the origin of chromosome oscillations, positioning and congression. It provides a natural explanation for the so-called chromosome directional instability and for the mechanism by which chromosomes sense their position in space. In addition, we estimate the in vivo velocity of chromokinesins at vanishing load and propose new experiments to assess the mechanism at the origin of chromosome movement in cell division.

  14. Poleward propagating subinertial alongshore surface currents off the U.S. West Coast

    KAUST Repository

    Kim, Sung Yong


    The network comprising 61 high-frequency radar systems along the U.S. West Coast (USWC) provides a unique, high resolution, and broad scale view of ocean surface circulation. Subinertial alongshore surface currents show poleward propagating signals with phase speeds of O(10) and O(100-300) km d -1 that are consistent with historical in situ observations off the USWC and that can be possibly interpreted as coastally trapped waves (CTWs). The propagating signals in the slow mode are partly observed in southern California, which may result from scattering and reflection of higher-mode CTWs due to curvature of shoreline and bathymetry near Point Conception, California. On the other hand, considering the order of the phase speed in the slow mode, the poleward propagating signals may be attributed to alongshore advection or pressure-driven flows. A statistical regression of coastal winds at National Data Buoy Center buoys on the observed surface currents partitions locally and remotely wind-forced components, isolates footprints of the equatorward propagating storm events in winter off the USWC, and shows the poleward propagating signals year round. Key Points A unique resource to examine synoptic-scale alongshore variability Isolation of equatorward wind events in winter using a statistical model Poleward propagating surface signals year-round © 2013. American Geophysical Union. All Rights Reserved.

  15. Identification of the poleward boundary of the auroral oval using characteristics of ion precipitation

    Energy Technology Data Exchange (ETDEWEB)

    Troshichev, O.A.; Shishkina, E.M. [Arctic and Antartic Research Institute, St. Petersburg (Russian Federation); Meng, C.I.; Newell, P.T. [Johns Hopkins Univ., Laurel, MD (United States)


    The authors look for characteristics to identify the poleward edge of the auroral oval, by looking at precipitation properties of electrons and ions from DMSP F6 and F7 crossings of this region. They average the readings over 1/2 degree in latitude, and normalize them to flux maxima for each pass. The precipitation data clearly indicates the presence of the auroral oval. As one moves poleward then dependent upon the interplanetary magnetic field orientation, the precipitation falls off one or more orders of magnitude when B{sub z}>0, or when B{sub z}<0, it degenerates to an unstructured type of polar rain, with no clear ion precipitation evident. For B{sub z}>0 there are clear markers for identifying the inner edge of the oval, which are not so evident for southward fields. They discuss the significance of this boundary layer.

  16. Poleward eddy heat flux anomalies associated with recent Arctic sea ice loss (United States)

    Hoshi, Kazuhira; Ukita, Jinro; Honda, Meiji; Iwamoto, Katsushi; Nakamura, Tetsu; Yamazaki, Koji; Dethloff, Klaus; Jaiser, Ralf; Handorf, Dörthe


    Details of the characteristics of upward planetary wave propagation associated with Arctic sea ice loss under present climate conditions are examined using reanalysis data and simulation results. Recent Arctic sea ice loss results in increased stratospheric poleward eddy heat fluxes in the eastern and central Eurasia regions and enhanced upward propagation of planetary-scale waves in the stratosphere. A linear decomposition scheme reveals that this modulation of the planetary waves arises from coupling of the climatological planetary wavefield with temperature anomalies for the eastern Eurasia region and with meridional wind anomalies for the central Eurasia region. Propagation of stationary Rossby wave packets results in a dynamic link between these temperature and meridional wind anomalies with sea ice loss over the Barents-Kara Sea. The results provide strong evidence that recent Arctic sea ice loss significantly modulates atmospheric circulation in winter to modify poleward eddy heat fluxes so as to drive stratosphere-troposphere coupling processes.

  17. IMP 8 observations of a poleward plasma circulation: Evidence of entry into the plasma mantle? (United States)

    Kolpak, M. A.; Paularena, K. I.; Richardson, J. D.; Siscoe, G. L.

    Plasma data from IMP 8 are used to map the spatial structure of plasma flow in Earth's magnetosheath. Plasma and magnetic field data from instruments on ISEE-3 and WIND are used to normalize the IMP 8 magnetosheath data to upstream solar wind conditions. For the majority of the data, the magnitude and direction of plasma flow inside the magnetosheath agree well with gas-dynamic models. About 8% of the ISEE-3-normalized velocity vectors and 3% of the WIND-normalized velocity vectors exhibit a poleward circulation in the YZ plane. The observed circulation is consistent with predictions for flow within the plasma mantle. The occurrence frequency of these poleward flows increases further down the tail, consistent with predictions that the mantle width increases tailward. Densities are lower where this flow is observed, consistent with expectations for the plasma mantle, but temperatures are higher and the magnetic field magnitudes lower, the opposite of theoretical expectations.

  18. Are Calanus spp. shifting poleward in the North Atlantic? A habitat modelling approach

    KAUST Repository

    Chust, Guillem


    In the last decade, the analysis based on Continuous Plankton Recorder survey in the eastern North Atlantic Ocean detected one of the most striking examples of marine poleward migration related to sea warming. The main objective of this study is to verify the poleward shift of zooplankton species (Calanus finmarchicus, C. glacialis, C. helgolandicus, C. hyperboreus) for which distributional changes have been recorded in the North Atlantic Ocean and to assess how much of this shift was triggered by sea warming, using Generalized Additive Models. To this end, the population gravity centre of observed data was compared with that of a series of simulation experiments: (i) a model using only climate factors (i.e. niche-based model) to simulate species habitat suitability, (ii) a model using only temporal and spatial terms to reconstruct the population distribution, and (iii) a model using both factors combined, using a subset of observations as independent dataset for validation. Our findings show that only C. finmarchicus had a consistent poleward shift, triggered by sea warming, estimated in 8.1 km per decade in the North Atlantic (16.5 per decade for the northeast), which is substantially lower than previous works at the assemblage level and restricted to the Northeast Atlantic. On the contrary, C. helgolandicus is expanding in all directions, although its northern distribution limit in the North Sea has shifted northward. Calanus glacialis and C. hyperboreus, which have the geographic centres of populations mainly in the NW Atlantic, showed a slight southward shift, probably responding to cool water penetrating southward in the Labrador Current. Our approach, supported by high model accuracy, shows its power in detecting species latitudinal shifts and identifying its causes, since the trend of occurrence observed data is influenced by the sampling frequency, which has progressively concentrated to lower latitudes with time. © 2013 © 2013 International Council for

  19. The poleward migration of the location of tropical cyclone maximum intensity. (United States)

    Kossin, James P; Emanuel, Kerry A; Vecchi, Gabriel A


    Temporally inconsistent and potentially unreliable global historical data hinder the detection of trends in tropical cyclone activity. This limits our confidence in evaluating proposed linkages between observed trends in tropical cyclones and in the environment. Here we mitigate this difficulty by focusing on a metric that is comparatively insensitive to past data uncertainty, and identify a pronounced poleward migration in the average latitude at which tropical cyclones have achieved their lifetime-maximum intensity over the past 30 years. The poleward trends are evident in the global historical data in both the Northern and the Southern hemispheres, with rates of 53 and 62 kilometres per decade, respectively, and are statistically significant. When considered together, the trends in each hemisphere depict a global-average migration of tropical cyclone activity away from the tropics at a rate of about one degree of latitude per decade, which lies within the range of estimates of the observed expansion of the tropics over the same period. The global migration remains evident and statistically significant under a formal data homogenization procedure, and is unlikely to be a data artefact. The migration away from the tropics is apparently linked to marked changes in the mean meridional structure of environmental vertical wind shear and potential intensity, and can plausibly be linked to tropical expansion, which is thought to have anthropogenic contributions.

  20. Has the East Asian Westerly Jet Experienced a Poleward Displacement in Recent Decades?

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yaocun; HUANG Danqing


    Previous studies have suggested a poleward shift of the zonally averaged jet stream due to rapid warming over continents.However,the regional characteristics of the change in the jet stream are not yet understood.Here,we present evidence suggesting that the East Asian westerly jet did not shift poleward in past decades (1980-2004 relative to 1958-1979),both in winter and summer.Rather,the jet axis has moved southward in summer,but its meridional position is steady in winter.The main change of the jet stream in winter is the enhancement of its intensity.These changes in both summer and winter are consistent with the corresponding changes in the large meridional tropospheric temperature-gradient zone.Based on these results,we suggest that the changes of the jet stream over East Asia are unique and are different from the zonal mean jet stream over the Northern Hemisphere and over the North Atlantic region.

  1. Marker chromosomes. (United States)

    Rao, Kiran Prabhaker; Belogolovkin, Victoria


    Marker chromosomes are a morphologically heterogeneous group of structurally abnormal chromosomes that pose a significant challenge in prenatal diagnosis. Phenotypes associated with marker chromosomes are highly variable and range from normal to severely abnormal. Clinical outcomes are very difficult to predict when marker chromosomes are detected prenatally. In this review, we outline the classification, etiology, cytogenetic characterization, and clinical consequences of marker chromosomes, as well as practical approaches to prenatal diagnosis and genetic counseling.

  2. Scintillation and loss of signal lock from poleward moving auroral forms in the cusp ionosphere

    CERN Document Server

    Oksavik, K; Lorentzen, D A; Baddeley, L J; Moen, J


    We present two examples from the cusp ionosphere over Svalbard,where poleward moving auroral forms (PMAFs) are causing significant phase scintillation in signals from navigation satellites. The data were obtained using a combination of ground-based optical instruments and a newly installed multiconstellation navigation signal receiver at Longyearbyen. Both events affected signals from GPS and Global Navigation Satellite System (GLONASS). When one intense PMAF appeared, the signal from one GPS spacecraft also experienced a temporary loss of signal lock. Although several polar cap patches were also observed in the area as enhancements in total electron content, the most severe scintillation and loss of signal lock appear to be attributed to very intense PMAF activity. This shows that PMAFs are locations of strong ionospheric irregularities, which at times may cause more severe disturbances in the cusp ionosphere for navigation signals than polar cap patches.

  3. Arctic Cut-Off High Drives the Poleward Shift of a New Greenland Melting Record (United States)

    Tedesco, M.; Mote, T.; Fettweis, X.; Hanna, E.; Jeyaratnam, J.; Booth, J. F.; Datta, R.; Briggs, K.


    Large-scale atmospheric circulation controls the mass and energy balance of the Greenland ice sheet through its impact on radiative budget, runoff and accumulation. Here, using reanalysis data and the outputs of a regional climate model, we show that the persistence of an exceptional atmospheric ridge, centered over the Arctic Ocean, was responsible for a poleward shift of runoff, albedo and surface temperature records over the Greenland during the summer of 2015. New records of monthly mean zonal winds at 500 hPa and of the maximum latitude of ridge peaks of the 5,700+/-50 m isohypse over the Arctic were associated with the formation and persistency of a cutoff high. The unprecedented (1948-2015) and sustained atmospheric conditions promoted enhanced runoff, increased the surface temperatures and decreased the albedo in northern Greenland, while inhibiting melting in the south, where new melting records were set over the past decade. Subject terms: Earth sciences Atmospheric science Climate science

  4. Arctic cut-off high drives the poleward shift of a new Greenland melting record (United States)

    Tedesco, M.; Mote, T.; Fettweis, X.; Hanna, E.; Jeyaratnam, J.; Booth, J. F.; Datta, R.; Briggs, K.


    Large-scale atmospheric circulation controls the mass and energy balance of the Greenland ice sheet through its impact on radiative budget, runoff and accumulation. Here, using reanalysis data and the outputs of a regional climate model, we show that the persistence of an exceptional atmospheric ridge, centred over the Arctic Ocean, was responsible for a poleward shift of runoff, albedo and surface temperature records over the Greenland during the summer of 2015. New records of monthly mean zonal winds at 500 hPa and of the maximum latitude of ridge peaks of the 5,700+/-50 m isohypse over the Arctic were associated with the formation and persistency of a cutoff high. The unprecedented (1948-2015) and sustained atmospheric conditions promoted enhanced runoff, increased the surface temperatures and decreased the albedo in northern Greenland, while inhibiting melting in the south, where new melting records were set over the past decade.

  5. Upstream drivers of poleward moving auroral forms by satellite-imager coordinated observations (United States)

    Wang, B.; Nishimura, T.; Lyons, L. R.; Angelopoulos, V.; Frey, H. U.; Mende, S. B.


    Poleward moving auroral forms (PMAFs) are observed near the dayside poleward auroral oval boundary. PMAFs are thought to be an ionospheric signature of dayside reconnection and flux transfer events. PMAFs tend to occur when the IMF is southward. Although a limited number of PMAFs has been found in association with IMF southward turning, events without appreciable changes in IMF have also been reported. While those PMAFs could be triggered spontaneously, many of the past studies used solar wind measurements far away from the bow shock nose and may have used inaccurate time shift or missed small-scale structures in the solar wind. To examine how often PMAFs are triggered by upstream structures using solar wind measurements close to the bow shock nose, we use the AGO all sky imager in Antarctic and THEMIS B and C satellites in 2008, 2009 and 2011. We identified 24 conjunction events, where at least one of the THEMIS satellites is in the solar wind and the AGO imager is located within 3 MLT from the THEMIS MLT. We found that, in 14 out of 24 conjunction events, PMAFs occur soon after IMF southward turning, indicating that IMF southward turning could be the major triggering of PMAFs. Interestingly, among these 14 cases, there are 7 cases with different IMF structures between THEMIS B/C and OMNI, which obtained IMF information from WIND and ACE. And the larger correlation coefficients between PMAFs and IMFs observed by THMEIS B/C than OMNI present the advantages of THEMIS B/C. Among the 10 cases without correlating with IMF structures, PMAFs in two events are shown to have good correlation with reflected ions in the foreshock. Based on all the conjunction events we identified, IMF southward turning is the major trigger of PMAFs and reflected ions have minor effects. The rest of the cases could be spontaneous PMAFs, although foreshock activities, even if exists, may be missed due to the IMF orientation.

  6. Saturation of poleward atmospheric heat transport in warm climates and the low-gradient paradox. (United States)

    Caballero, R.; Langen, P.


    The equable climates of the deep past featured higher atmospheric greenhouse gas concentrations, greater global-mean surface temperatures and much weaker equator-to-pole temperature contrasts than today. Climate models readily reproduce the higher mean temperatures, given sufficient increases in greenhouse gases, but they have proved incapable of matching the low meridional gradients indicated by proxy data. A crucial step in resolving this 'low-gradient paradox' is uderstanding why climate models fail to reproduce the correct feedback between global mean temperature and its meridional gradient. Though models do achieve some reduction in temperature gradients, mostly through snow and sea-ice albedo feedback, the remaining discrepancy must be accounted for by either more exotic forms of radiative forcing feedback, which are not represented in current models, or by more efficient oceanic and/or atmospheric poleward heat transports, which the models for some reason do not capture. This latter feature is especially puzzling for the atmosphere, since there are plausible reasons to expect atmospheric energy transport to be be considerably more efficient in a warmer climate. We explore this issue by systematically studying the response of atmospheric heat transpor in a GCM to a very broad range of global mean temperatures and meridional gradients. We find that heat transport increases with global mean temperature when the latter is less than about 15C; above this value, heat transport saturates, becoming insensitive to surface temperature. This behavior has a dynamical origin traceble to changes in the structure of the atmosphere's general circulation. Mean tropospheric static stability increases with surface temperature, reducing baroclinicity and suppressing storm-track eddy activity. Furthermore, as temperature increases the storm-tracks as a whole migrate poleward over cooler waters, and thus do not experience the full global-mean surface temperature increase. These

  7. Faster poleward range shifts in moths with more variable colour patterns (United States)

    Forsman, Anders; Betzholtz, Per-Eric; Franzén, Markus


    Range shifts have been documented in many organisms, and climate change has been implicated as a contributing driver of latitudinal and altitudinal range modifications. However, little is known about what species trait(s) allow for faster environmental tracking and improved capacity for distribution expansions. We used data for 416 species of moths, and show that range limits in Sweden have shifted to the north by on average 52.4 km per decade between 1973 and 2014. When also including non-expanding species, average expansion rate was 23.2 km per decade. The rate of boundary shifts increased with increasing levels of inter-individual variation in colour patterns and decreased with increasing latitude. The association with colour patterns indicate that variation in this functionally important trait enables species to cope with novel and changing conditions. Northern range limits also increased with average abundance and decreased with increasing year-to-year abundance fluctuations, implicating production of dispersers as a driver of range dynamics. Studies of terrestrial animals show that rates of poleward shifts differ between taxonomic groups, increase over time, and depend on study duration and latitude. Knowledge of how distribution shifts change with time, location, and species characteristics may improve projections of responses to climate change and aid the protection of biodiversity.

  8. Investigation of triggering of poleward moving auroral forms using satellite-imager coordinated observations (United States)

    Wang, Boyi; Nishimura, Yukitoshi; Zou, Ying; Lyons, Larry R.; Angelopoulos, Vassilis; Frey, Harald; Mende, Stephen


    Poleward moving auroral forms (PMAFs) are thought to be an ionospheric signature of dayside magnetic reconnection. While PMAFs are more likely to occur when the interplanetary magnetic field (IMF) is southward, how often PMAFs are triggered by changes in solar wind parameters is still an open question. To address this issue, we used one of the Automatic Geophysical Observatories all-sky imagers in Antarctica and the Time History of Events and Macroscale Interactions during Substorms (THEMIS) B and C satellites, which can give solar wind measurements much closer to the subsolar bow shock than by Wind or ACE, to examine if PMAFs occurred in association with IMF orientation changes. We identified 60 PMAFs in conjunction with THEMIS B and C during 2008, 2009, and 2011 and 70% of events show reduction of Bz before PMAF onset indicating that IMF southward turning plays an important role in triggering a majority of PMAFs. In contrast, the magnitude of the IMF Bz reduction in OMNI data was smaller and the reduction occurred in a slightly smaller percentage of events (40-60%). This suggests that solar wind structures that missed the L1 point or evolution of solar wind between the L1 point and THEMIS may be important for identifying IMF changes responsible for transient dayside reconnection. Additionally, 17 PMAFs that did not have substantial IMF southward turnings are correlated well with foreshock events, indicating that foreshock phenomena may also play a role in triggering PMAFs.

  9. Modeling Chromosomes (United States)

    Robertson, Carol


    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  10. Movement Disorders (United States)

    ... t want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia ... movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases ...

  11. Reply to Comment on ‘Roles of interbasin frequency changes in the poleward shifts of maximum intensity location of tropical cyclones’ (United States)

    Moon, Il-Ju; Kim, Sung-Hun; Klotzbach, Phil; Chan, Johnny C. L.


    Recently a pronounced global poleward shift in the latitude at which the maximum intensities of tropical cyclones (TC) occur has been identified. Moon et al (2015 Environ. Res. Lett. 10 104004) reported that the poleward migration is significantly influenced by changes in interbasin frequency. These frequency changes are a larger contributor to the poleward shift than the intrabasin migration component. The strong role of interbasin frequency changes in the poleward migration also suggest that the poleward trend could be changed to an opposite equatorward trend in the future due to multi-decadal variability that significantly impacts Northern Hemisphere TC frequency. In the accompanying comment, Kossin et al (2016 Environ. Res. Lett. 11 068001) questioned the novelty and robustness of our results by raising issues associated with subsampling, contributions from some basins to poleward migration, and data dependency. Here, we explain the originality and importance of our main findings, which are different from those of Kossin et al (2014 Nature 509 349-52) and reaffirm that our conclusions are maintained regardless of the issues that were raised.

  12. Entropy as the driver of chromosome segregation. (United States)

    Jun, Suckjoon; Wright, Andrew


    We present a new physical biology approach to understanding the relationship between the organization and segregation of bacterial chromosomes. We posit that replicated Escherichia coli daughter strands will spontaneously demix as a result of entropic forces, despite their strong confinement within the cell; in other words, we propose that entropy can act as a primordial physical force which drives chromosome segregation under the right physical conditions. Furthermore, proteins implicated in the regulation of chromosome structure and segregation may in fact function primarily in supporting such an entropy-driven segregation mechanism by regulating the physical state of chromosomes. We conclude that bacterial chromosome segregation is best understood in terms of spontaneous demixing of daughter strands. Our concept may also have important implications for chromosome segregation in eukaryotes, in which spindle-dependent chromosome movement follows an extended period of sister chromatid demixing and compaction.

  13. Body size, growth and life span: implications for the polewards range shift of Octopus tetricus in south-eastern Australia.

    Directory of Open Access Journals (Sweden)

    Jorge E Ramos

    Full Text Available Understanding the response of any species to climate change can be challenging. However, in short-lived species the faster turnover of generations may facilitate the examination of responses associated with longer-term environmental change. Octopus tetricus, a commercially important species, has undergone a recent polewards range shift in the coastal waters of south-eastern Australia, thought to be associated with the southerly extension of the warm East Australian Current. At the cooler temperatures of a polewards distribution limit, growth of a species could be slower, potentially leading to a bigger body size and resulting in a slower population turnover, affecting population viability at the extreme of the distribution. Growth rates, body size, and life span of O. tetricus were examined at the leading edge of a polewards range shift in Tasmanian waters (40°S and 147°E throughout 2011. Octopus tetricus had a relatively small body size and short lifespan of approximately 11 months that, despite cooler temperatures, would allow a high rate of population turnover and may facilitate the population increase necessary for successful establishment in the new extended area of the range. Temperature, food availability and gender appear to influence growth rate. Individuals that hatched during cooler and more productive conditions, but grew during warming conditions, exhibited faster growth rates and reached smaller body sizes than individuals that hatched into warmer waters but grew during cooling conditions. This study suggests that fast growth, small body size and associated rapid population turnover may facilitate the range shift of O. tetricus into Tasmanian waters.

  14. Body size, growth and life span: implications for the polewards range shift of Octopus tetricus in south-eastern Australia. (United States)

    Ramos, Jorge E; Pecl, Gretta T; Moltschaniwskyj, Natalie A; Strugnell, Jan M; León, Rafael I; Semmens, Jayson M


    Understanding the response of any species to climate change can be challenging. However, in short-lived species the faster turnover of generations may facilitate the examination of responses associated with longer-term environmental change. Octopus tetricus, a commercially important species, has undergone a recent polewards range shift in the coastal waters of south-eastern Australia, thought to be associated with the southerly extension of the warm East Australian Current. At the cooler temperatures of a polewards distribution limit, growth of a species could be slower, potentially leading to a bigger body size and resulting in a slower population turnover, affecting population viability at the extreme of the distribution. Growth rates, body size, and life span of O. tetricus were examined at the leading edge of a polewards range shift in Tasmanian waters (40°S and 147°E) throughout 2011. Octopus tetricus had a relatively small body size and short lifespan of approximately 11 months that, despite cooler temperatures, would allow a high rate of population turnover and may facilitate the population increase necessary for successful establishment in the new extended area of the range. Temperature, food availability and gender appear to influence growth rate. Individuals that hatched during cooler and more productive conditions, but grew during warming conditions, exhibited faster growth rates and reached smaller body sizes than individuals that hatched into warmer waters but grew during cooling conditions. This study suggests that fast growth, small body size and associated rapid population turnover may facilitate the range shift of O. tetricus into Tasmanian waters.

  15. Synthetic chromosomes. (United States)

    Schindler, Daniel; Waldminghaus, Torsten


    What a living organism looks like and how it works and what are its components-all this is encoded on DNA, the genetic blueprint. Consequently, the way to change an organism is to change its genetic information. Since the first pieces of recombinant DNA have been used to transform cells in the 1970s, this approach has been enormously extended. Bigger and bigger parts of the genetic information have been exchanged or added over the years. Now we are at a point where the construction of entire chromosomes becomes a reachable goal and first examples appear. This development leads to fundamental new questions, for example, about what is possible and desirable to build or what construction rules one needs to follow when building synthetic chromosomes. Here we review the recent progress in the field, discuss current challenges and speculate on the appearance of future synthetic chromosomes.

  16. From equator to pole: splitting chromosomes in mitosis and meiosis. (United States)

    Duro, Eris; Marston, Adèle L


    During eukaryotic cell division, chromosomes must be precisely partitioned to daughter cells. This relies on a mechanism to move chromosomes in defined directions within the parental cell. While sister chromatids are segregated from one another in mitosis and meiosis II, specific adaptations enable the segregation of homologous chromosomes during meiosis I to reduce ploidy for gamete production. Many of the factors that drive these directed chromosome movements are known, and their molecular mechanism has started to be uncovered. Here we review the mechanisms of eukaryotic chromosome segregation, with a particular emphasis on the modifications that ensure the segregation of homologous chromosomes during meiosis I.

  17. Striking movements

    DEFF Research Database (Denmark)

    Dahl, Sofia


    note onsets and short interaction times between player and instrument do not allow for much adjustment once a stroke is initiated. The paper surveys research that shows a close relationship between movement and sound production, and how playing conditions such as tempo and the rebound after impact...... affect the movements. Furthermore, I discuss differences in movement organization, and visual information from striking movements....

  18. Chromosome Analysis (United States)


    Perceptive Scientific Instruments, Inc., provides the foundation for the Powergene line of chromosome analysis and molecular genetic instrumentation. This product employs image processing technology from NASA's Jet Propulsion Laboratory and image enhancement techniques from Johnson Space Center. Originally developed to send pictures back to earth from space probes, digital imaging techniques have been developed and refined for use in a variety of medical applications, including diagnosis of disease.

  19. Severe and localized GNSS scintillation at the poleward edge of the nightside auroral oval during intense substorm aurora

    CERN Document Server

    van der Meeren, Christer; Lorentzen, Dag A; Rietveld, Michael T; Clausen, Lasse B N


    In this paper we study how GPS, GLONASS, and Galileo navigation signals are compromised by strong irregularities causing severe phase scintillation ($\\mathit{\\sigma }_{\\phi }$ > 1) in the nightside high-latitude ionosphere during a substorm on 3 November 2013. Substorm onset and a later intensification coincided with polar cap patches entering the auroral oval to become auroral blobs. Using Global Navigation Satellite Systems (GNSS) receivers and optical data, we show severe scintillation driven by intense auroral emissions in the line of sight between the receiver and the satellites. During substorm expansion, the area of scintillation followed the intense poleward edge of the auroral oval. The intense auroral emissions were colocated with polar cap patches (blobs). The patches did not contain strong irregularities, neither before entering the auroral oval nor after the aurora had faded. Signals from all three GNSS constellations were similarly affected by the irregularities. Furthermore, two receivers space...

  20. Mechanisms of Chromosome Congression during Mitosis (United States)

    Maiato, Helder; Gomes, Ana Margarida; Sousa, Filipe; Barisic, Marin


    Chromosome congression during prometaphase culminates with the establishment of a metaphase plate, a hallmark of mitosis in metazoans. Classical views resulting from more than 100 years of research on this topic have attempted to explain chromosome congression based on the balance between opposing pulling and/or pushing forces that reach an equilibrium near the spindle equator. However, in mammalian cells, chromosome bi-orientation and force balance at kinetochores are not required for chromosome congression, whereas the mechanisms of chromosome congression are not necessarily involved in the maintenance of chromosome alignment after congression. Thus, chromosome congression and maintenance of alignment are determined by different principles. Moreover, it is now clear that not all chromosomes use the same mechanism for congressing to the spindle equator. Those chromosomes that are favorably positioned between both poles when the nuclear envelope breaks down use the so-called “direct congression” pathway in which chromosomes align after bi-orientation and the establishment of end-on kinetochore-microtubule attachments. This favors the balanced action of kinetochore pulling forces and polar ejection forces along chromosome arms that drive chromosome oscillatory movements during and after congression. The other pathway, which we call “peripheral congression”, is independent of end-on kinetochore microtubule-attachments and relies on the dominant and coordinated action of the kinetochore motors Dynein and Centromere Protein E (CENP-E) that mediate the lateral transport of peripheral chromosomes along microtubules, first towards the poles and subsequently towards the equator. How the opposite polarities of kinetochore motors are regulated in space and time to drive congression of peripheral chromosomes only now starts to be understood. This appears to be regulated by position-dependent phosphorylation of both Dynein and CENP-E and by spindle microtubule

  1. Mechanisms of Chromosome Congression during Mitosis

    Directory of Open Access Journals (Sweden)

    Helder Maiato


    Full Text Available Chromosome congression during prometaphase culminates with the establishment of a metaphase plate, a hallmark of mitosis in metazoans. Classical views resulting from more than 100 years of research on this topic have attempted to explain chromosome congression based on the balance between opposing pulling and/or pushing forces that reach an equilibrium near the spindle equator. However, in mammalian cells, chromosome bi-orientation and force balance at kinetochores are not required for chromosome congression, whereas the mechanisms of chromosome congression are not necessarily involved in the maintenance of chromosome alignment after congression. Thus, chromosome congression and maintenance of alignment are determined by different principles. Moreover, it is now clear that not all chromosomes use the same mechanism for congressing to the spindle equator. Those chromosomes that are favorably positioned between both poles when the nuclear envelope breaks down use the so-called “direct congression” pathway in which chromosomes align after bi-orientation and the establishment of end-on kinetochore-microtubule attachments. This favors the balanced action of kinetochore pulling forces and polar ejection forces along chromosome arms that drive chromosome oscillatory movements during and after congression. The other pathway, which we call “peripheral congression”, is independent of end-on kinetochore microtubule-attachments and relies on the dominant and coordinated action of the kinetochore motors Dynein and Centromere Protein E (CENP-E that mediate the lateral transport of peripheral chromosomes along microtubules, first towards the poles and subsequently towards the equator. How the opposite polarities of kinetochore motors are regulated in space and time to drive congression of peripheral chromosomes only now starts to be understood. This appears to be regulated by position-dependent phosphorylation of both Dynein and CENP-E and by spindle

  2. Mangrove expansion and contraction at a poleward range limit: Climate extremes and land-ocean temperature gradients (United States)

    Osland, Michael J.; Day, Richard H.; Hall, Courtney T.; Brumfield, Marisa D; Dugas, Jason; Jones, William R.


    Within the context of climate change, there is a pressing need to better understand the ecological implications of changes in the frequency and intensity of climate extremes. Along subtropical coasts, less frequent and warmer freeze events are expected to permit freeze-sensitive mangrove forests to expand poleward and displace freeze-tolerant salt marshes. Here, our aim was to better understand the drivers of poleward mangrove migration by quantifying spatiotemporal patterns in mangrove range expansion and contraction across land-ocean temperature gradients. Our work was conducted in a freeze-sensitive mangrove-marsh transition zone that spans a land-ocean temperature gradient in one of the world's most wetland-rich regions (Mississippi River Deltaic Plain; Louisiana, USA). We used historical air temperature data (1893-2014), alternative future climate scenarios, and coastal wetland coverage data (1978-2011) to investigate spatiotemporal fluctuations and climate-wetland linkages. Our analyses indicate that changes in mangrove coverage have been controlled primarily by extreme freeze events (i.e., air temperatures below a threshold zone of -6.3 to -7.6 °C). We expect that in the past 121 years, mangrove range expansion and contraction has occurred across land-ocean temperature gradients. Mangrove resistance, resilience, and dominance were all highest in areas closer to the ocean where temperature extremes were buffered by large expanses of water and saturated soil. Under climate change, these areas will likely serve as local hotspots for mangrove dispersal, growth, range expansion, and displacement of salt marsh. Collectively, our results show that the frequency and intensity of freeze events across land-ocean temperature gradients greatly influences spatiotemporal patterns of range expansion and contraction of freeze-sensitive mangroves. We expect that, along subtropical coasts, similar processes govern the distribution and abundance of other freeze

  3. [Stereotypic movements]. (United States)

    Fernández-Alvarez, E


    Stereotypic movements are repetitive patterns of movement with certain peculiar features that make them especially interesting. Their physiopathology and their relationship with the neurobehavioural disorders they are frequently associated with are unknown. In this paper our aim is to offer a simple analysis of their dominant characteristics, their differentiation from other processes and a hypothesis of the properties of stereotypic movements, which could all set the foundations for research work into their physiopathology.

  4. Co-segregation of sex chromosomes in the male black widow spider Latrodectus mactans (Araneae, Theridiidae). (United States)

    Ault, Jeffrey G; Felt, Kristen D; Doan, Ryan N; Nedo, Alexander O; Ellison, Cassondra A; Paliulis, Leocadia V


    During meiosis I, homologous chromosomes join together to form bivalents. Through trial and error, bivalents achieve stable bipolar orientations (attachments) on the spindle that eventually allow the segregation of homologous chromosomes to opposite poles. Bipolar orientations are stable through tension generated by poleward forces to opposite poles. Unipolar orientations lack tension and are stereotypically not stable. The behavior of sex chromosomes during meiosis I in the male black widow spider Latrodectus mactans (Araneae, Theridiidae) challenges the principles governing such a scenario. We found that male L. mactans has two distinct X chromosomes, X1 and X2. The X chromosomes join together to form a connection that is present in prometaphase I but is lost during metaphase I, before the autosomes disjoin at anaphase I. We found that both X chromosomes form stable unipolar orientations to the same pole that assure their co-segregation at anaphase I. Using micromanipulation, immunofluorescence microscopy, and electron microscopy, we studied this unusual chromosome behavior to explain how it may fit the current dogma of chromosome distribution during cell division.

  5. Regulation of DNA Replication Initiation by Chromosome Structure


    Magnan, David; Bates, David


    Recent advancements in fluorescence imaging have shown that the bacterial nucleoid is surprisingly dynamic in terms of both behavior (movement and organization) and structure (density and supercoiling). Links between chromosome structure and replication initiation have been made in a number of species, and it is universally accepted that favorable chromosome structure is required for initiation in all cells. However, almost nothing is known about whether cells use changes in chromosome struct...

  6. Plasma structure within poleward-moving cusp/cleft auroral transients: EISCAT Svalbard radar observations and an explanation in terms of large local time extent of events

    Directory of Open Access Journals (Sweden)

    M. Lockwood

    Full Text Available We report high-resolution observations of the southward-IMF cusp/cleft ionosphere made on December 16th 1998 by the EISCAT (European incoherent scatter Svalbard radar (ESR, and compare them with observations of dayside auroral luminosity, as seen at a wavelength of 630 nm by a meridian scanning photometer at Ny Ålesund, and of plasma flows, as seen by the CUTLASS (co-operative UK twin location auroral sounding system Finland HF radar. The optical data reveal a series of poleward-moving transient red-line (630 nm enhancements, events that have been associated with bursts in the rate of magnetopause reconnection generating new open flux. The combined observations at this time have strong similarities to predictions of the effects of soft electron precipitation modulated by pulsed reconnection, as made by Davis and Lockwood (1996; however, the effects of rapid zonal flow in the ionosphere, caused by the magnetic curvature force on the newly opened field lines, are found to be a significant additional factor. In particular, it is shown how enhanced plasma loss rates induced by the rapid convection can explain two outstanding anomalies of the 630 nm transients, namely how minima in luminosity form between the poleward-moving events and how events can re-brighten as they move poleward. The observations show how cusp/cleft aurora and transient poleward-moving auroral forms appear in the ESR data and the conditions which cause enhanced 630 nm emission in the transients: they are an important first step in enabling the ESR to identify these features away from the winter solstice when supporting auroral observations are not available.

    Key words: Ionosphere (polar ionosphere - Magnetospheric physics (magnetopause; cusp and boundary layers; solar wind-magnetosphere interactions

  7. Deficit of mitonuclear genes on the human X chromosome predates sex chromosome formation. (United States)

    Dean, Rebecca; Zimmer, Fabian; Mank, Judith E


    Two taxa studied to date, the therian mammals and Caenorhabditis elegans, display underrepresentations of mitonuclear genes (mt-N genes, nuclear genes whose products are imported to and act within the mitochondria) on their X chromosomes. This pattern has been interpreted as the result of sexual conflict driving mt-N genes off of the X chromosome. However, studies in several other species have failed to detect a convergent biased distribution of sex-linked mt-N genes, leading to questions over the generality of the role of sexual conflict in shaping the distribution of mt-N genes. Here we tested whether mt-N genes moved off of the therian X chromosome following sex chromosome formation, consistent with the role of sexual conflict, or whether the paucity of mt-N genes on the therian X is a chance result of an underrepresentation on the ancestral regions that formed the X chromosome. We used a synteny-based approach to identify the ancestral regions in the platypus and chicken genomes that later formed the therian X chromosome. We then quantified the movement of mt-N genes on and off of the X chromosome and the distribution of mt-N genes on the human X and ancestral X regions. We failed to find an excess of mt-N gene movement off of the X. The bias of mt-N genes on ancestral therian X chromosomes was also not significantly different from the biases on the human X. Together our results suggest that, rather than conflict driving mt-N genes off of the mammalian X, random biases on chromosomes that formed the X chromosome could explain the paucity of mt-N genes in the therian lineage.

  8. Undetected sex chromosome aneuploidy by chromosomal microarray. (United States)

    Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay


    We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

  9. Sequencing papaya X and Yh chromosomes reveals molecular basis of incipient sex chromosome evolution. (United States)

    Wang, Jianping; Na, Jong-Kuk; Yu, Qingyi; Gschwend, Andrea R; Han, Jennifer; Zeng, Fanchang; Aryal, Rishi; VanBuren, Robert; Murray, Jan E; Zhang, Wenli; Navajas-Pérez, Rafael; Feltus, F Alex; Lemke, Cornelia; Tong, Eric J; Chen, Cuixia; Wai, Ching Man; Singh, Ratnesh; Wang, Ming-Li; Min, Xiang Jia; Alam, Maqsudul; Charlesworth, Deborah; Moore, Paul H; Jiang, Jiming; Paterson, Andrew H; Ming, Ray


    Sex determination in papaya is controlled by a recently evolved XY chromosome pair, with two slightly different Y chromosomes controlling the development of males (Y) and hermaphrodites (Y(h)). To study the events of early sex chromosome evolution, we sequenced the hermaphrodite-specific region of the Y(h) chromosome (HSY) and its X counterpart, yielding an 8.1-megabase (Mb) HSY pseudomolecule, and a 3.5-Mb sequence for the corresponding X region. The HSY is larger than the X region, mostly due to retrotransposon insertions. The papaya HSY differs from the X region by two large-scale inversions, the first of which likely caused the recombination suppression between the X and Y(h) chromosomes, followed by numerous additional chromosomal rearrangements. Altogether, including the X and/or HSY regions, 124 transcription units were annotated, including 50 functional pairs present in both the X and HSY. Ten HSY genes had functional homologs elsewhere in the papaya autosomal regions, suggesting movement of genes onto the HSY, whereas the X region had none. Sequence divergence between 70 transcripts shared by the X and HSY revealed two evolutionary strata in the X chromosome, corresponding to the two inversions on the HSY, the older of which evolved about 7.0 million years ago. Gene content differences between the HSY and X are greatest in the older stratum, whereas the gene content and order of the collinear regions are identical. Our findings support theoretical models of early sex chromosome evolution.

  10. Chromosome Disorder Outreach (United States)

    ... BLOG Join Us Donate You are not alone. Chromosome Disorder Outreach, Inc. is a non-profit organization, ... Support For all those diagnosed with any rare chromosome disorder. Since 1992, CDO has supported the parents ...

  11. Mixed Movements

    DEFF Research Database (Denmark)

    Brabrand, Helle


    Mixed Movements is a research project engaged in performance-based architectural drawing. Architectonic implementation questions relations between the human body and a body of architecture by the different ways we handle drawing materials. A drawing may explore architectonic problems at other...... levels than those related to building, and this exploration is a special challenge and competence implicit artistic development work. The project Mixed Movements generates drawing-material, not primary as representation, but as a performance-based media, making the body being-in-the-media felt and appear...... as possible operational moves....

  12. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.


    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in si


    NARCIS (Netherlands)



    Banding techniques were carried out on metaphase chromosomes of zebrafish (Danio rerio) embryos. The karyotypes with the longest chromosomes consist of 12 metacentrics, 26 submetacentrics, and 12 subtelocentrics (2n = 50). All centromeres are C-band positive. Eight chromosomes have a pericentric C-b

  14. Structural organization of very small chromosomes: study on a single-celled evolutionary distant eukaryote Giardia intestinalis. (United States)

    Tůmová, Pavla; Uzlíková, Magdalena; Wanner, Gerhard; Nohýnková, Eva


    During mitotic prophase, chromosomes of the pathogenic unicellular eukaryote Giardia intestinalis condense in each of the cell's two nuclei. In this study, Giardia chromosomes were investigated using light microscopy, high-resolution field emission scanning electron microscopy, and in situ hybridization. For the first time, we describe the overall morphology, condensation stages, and mitotic segregation of these chromosomes. Despite the absence of several genes involved in the cohesion and condensation pathways in the Giardia genome, we observed chromatin organization similar to those found in eukaryotes, i.e., 10-nm nucleosomal fibrils, 30-nm fibrils coiled to chromomeres or in parallel arrangements, and closely aligned sister chromatids. DNA molecules of Giardia terminate with telomeric repeats that we visualized on each of the four chromatid endings of metaphase chromosomes. Giardia chromosomes lack primary and secondary constrictions, thus preventing their classification based on the position of the centromere. The anaphase poleward segregation of sister chromatids is atypical in orientation and tends to generate lagging chromatids between daughter nuclei. In the Giardia genome database, we identified two putative members of the kleisin family thought to be responsible for condensin ring establishment. Thus far, Giardia chromosomes (300 nm to 1.5 μm) are the smallest chromosomes that were analyzed at the ultrastructural level. This study complements the existing molecular and sequencing data on Giardia chromosomes with cytological and ultrastructural information.

  15. Chloroplast movement. (United States)

    Wada, Masamitsu


    Chloroplast movement is important for plant survival under high light and for efficient photosynthesis under low light. This review introduces recent knowledge on chloroplast movement and shows how to analyze the responses and the moving mechanisms, potentially inspiring research in this field. Avoidance from the strong light is mediated by blue light receptor phototropin 2 (phot2) plausibly localized on the chloroplast envelop and accumulation at the week light-irradiated area is mediated by phot1 and phot2 localized on the plasma membrane. Chloroplasts move by chloroplast actin (cp-actin) filaments that must be polymerized by Chloroplast Unusual Positioning1 (CHUP1) at the front side of moving chloroplast. To understand the signal transduction pathways and the mechanism of chloroplast movement, that is, from light capture to motive force-generating mechanism, various methods should be employed based on the various aspects. Observation of chloroplast distribution pattern under different light condition by fixed cell sectioning is somewhat an old-fashioned technique but the most basic and important way. However, most importantly, precise chloroplast behavior during and just after the induction of chloroplast movement by partial cell irradiation using an irradiator with either low light or strong light microbeam should be recorded by time lapse photographs under infrared light and analyzed. Recently various factors involved in chloroplast movement, such as cp-actin filaments and CHUP1, could be traced in Arabidopsis transgenic lines with fluorescent protein tags under a confocal laser scanning microscope (CLSM) and/or a total internal reflection fluorescence microscope (TIRFM). These methods are listed and their advantages and disadvantages are evaluated.

  16. The fragile Y hypothesis: Y chromosome aneuploidy as a selective pressure in sex chromosome and meiotic mechanism evolution. (United States)

    Blackmon, Heath; Demuth, Jeffery P


    Loss of the Y-chromosome is a common feature of species with chromosomal sex determination. However, our understanding of why some lineages frequently lose Y-chromosomes while others do not is limited. The fragile Y hypothesis proposes that in species with chiasmatic meiosis the rate of Y-chromosome aneuploidy and the size of the recombining region have a negative correlation. The fragile Y hypothesis provides a number of novel insights not possible under traditional models. Specifically, increased rates of Y aneuploidy may impose positive selection for (i) gene movement off the Y; (ii) translocations and fusions which expand the recombining region; and (iii) alternative meiotic segregation mechanisms (achiasmatic or asynaptic). These insights as well as existing evidence for the frequency of Y-chromosome aneuploidy raise doubt about the prospects for long-term retention of the human Y-chromosome despite recent evidence for stable gene content in older non-recombining regions.

  17. Gracious Movement

    Directory of Open Access Journals (Sweden)

    Lev Kreft


    Full Text Available In 1984 Christopher Cordner offered a critical view on theories of graceful movement in sport developed by Ng. G. Wulk, David Best and Joseph Kupfer. In 2001 Paul Davis criticized his view. Cordner responded, rejecting all the criticism. More than a century before, Herbert Spencer and Jean-Marie Guyau had a similar controversy over grace. Both exchanges of opinion involve three positions: that grace is the most efficient movement and therefore something quantitative and measurable; that grace is expression of the wholeness of person and the world; and that grace is something which neither science nor philosophy can explain. To clarify these conflicting issues, this article proposes to examine the history of the notion which goes back to the Latin gratia and has root in the Ancient Greek charis, and to apply the concepts of cultural anchor and thin coherence, following John R. Searle’s explanation that we produce epistemically objective accounts of ontologically subjective reality.

  18. Antinuclear movement

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Young Hee; Im, Jaeg Yeong


    This book is for antinuclear movement. So, this book introduces many articles on nuclear issues of Asia and the pacific area. The titles of articles are the crusades of Reagan by Werner Plaha, contending between super powers in Europe by Alva Reimer Myrdal, claims of resistance by Daniel Ellsberg, nuclear and the Korean Peninsula by Go, Seung Woo, Liberation but of belief of nuclear weapon by Lee, Young Hee and nuclear weapon in Korea by peter Haze.

  19. Chromosomal instability in meningiomas. (United States)

    van Tilborg, Angela A G; Al Allak, Bushra; Velthuizen, Sandra C J M; de Vries, Annie; Kros, Johan M; Avezaat, Cees J J; de Klein, Annelies; Beverloo, H Berna; Zwarthoff, Ellen C


    Approximately 60% of sporadic meningiomas are caused by inactivation of the NF2 tumor suppressor gene on chromosome 22. No causative gene is known for the remaining 40%. Cytogenetic analysis shows that meningiomas caused by inactivation of the NF2 gene can be divided into tumors that show monosomy 22 as the sole abnormality and tumors with a more complex karyotype. Meningiomas not caused by the NF2 gene usually have a diploid karyotype. Here we report that, besides the clonal chromosomal aberrations, the chromosome numbers in many meningiomas varied from one metaphase spread to the other, a feature that is indicative of chromosomal instability. Unexpectedly and regardless of genotype, a subgroup of tumors was observed with an average number of 44.9 chromosomes and little variation in the number of chromosomes per metaphase spread. In addition, a second subgroup was recognized with a hyperdiploid number of chromosomes (average 48.5) and considerable variation in numbers per metaphase. However, this numerical instability resulted in a clonal karyotype with chromosomal gains and losses in addition to loss of chromosome 22 only in meningiomas caused by inactivation of the NF2 gene. In cultured cells of all tumor groups, bi- and multinucleated cells were seen, as well as anaphase bridges, residual chromatid strings, multiple spindle poles, and unseparated chromatids, suggesting defects in the mitotic apparatus or kinetochore. Thus, we conclude that even a benign and slow-growing tumor like a meningioma displays chromosomal instability.

  20. Computational movement analysis

    CERN Document Server

    Laube, Patrick


    This SpringerBrief discusses the characteristics of spatiotemporal movement data, including uncertainty and scale. It investigates three core aspects of Computational Movement Analysis: Conceptual modeling of movement and movement spaces, spatiotemporal analysis methods aiming at a better understanding of movement processes (with a focus on data mining for movement patterns), and using decentralized spatial computing methods in movement analysis. The author presents Computational Movement Analysis as an interdisciplinary umbrella for analyzing movement processes with methods from a range of fi

  1. Analysis of plant meiotic chromosomes by chromosome painting. (United States)

    Lysak, Martin A; Mandáková, Terezie


    Chromosome painting (CP) refers to visualization of large chromosome regions, entire chromosome arms, or entire chromosomes via fluorescence in situ hybridization (FISH). For CP in plants, contigs of chromosome-specific bacterial artificial chromosomes (BAC) from the target species or from a closely related species (comparative chromosome painting, CCP) are typically applied as painting probes. Extended pachytene chromosomes provide the highest resolution of CP in plants. CP enables identification and tracing of particular chromosome regions and/or entire chromosomes throughout all meiotic stages as well as corresponding chromosome territories in premeiotic interphase nuclei. Meiotic pairing and structural chromosome rearrangements (typically inversions and translocations) can be identified by CP. Here, we describe step-by-step protocols of CP and CCP in plant species including chromosome preparation, BAC DNA labeling, and multicolor FISH.

  2. The Precarious Prokaryotic Chromosome


    Kuzminov, Andrei


    Evolutionary selection for optimal genome preservation, replication, and expression should yield similar chromosome organizations in any type of cells. And yet, the chromosome organization is surprisingly different between eukaryotes and prokaryotes. The nuclear versus cytoplasmic accommodation of genetic material accounts for the distinct eukaryotic and prokaryotic modes of genome evolution, but it falls short of explaining the differences in the chromosome organization. I propose that the t...

  3. Mechanisms for chromosome segregation. (United States)

    Bouet, Jean-Yves; Stouf, Mathieu; Lebailly, Elise; Cornet, François


    Bacteria face the problem of segregating their gigantic chromosomes without a segregation period restricted in time and space, as Eukaryotes do. Segregation thus involves multiple activities, general or specific of a chromosome region and differentially controlled. Recent advances show that these various mechanisms conform to a “pair and release” rule, which appears as a general rule in DNA segregation. We describe the latest advances in segregation of bacterial chromosomes with emphasis on the different pair and release mechanisms.

  4. Bacterial chromosome segregation. (United States)

    Possoz, Christophe; Junier, Ivan; Espeli, Olivier


    Dividing cells have mechanisms to ensure that their genomes are faithfully segregated into daughter cells. In bacteria, the description of these mechanisms has been considerably improved in the recent years. This review focuses on the different aspects of bacterial chromosome segregation that can be understood thanks to the studies performed with model organisms: Escherichia coli, Bacillus subtilis, Caulobacter crescentus and Vibrio cholerae. We describe the global positionning of the nucleoid in the cell and the specific localization and dynamics of different chromosomal loci, kinetic and biophysic aspects of chromosome segregation are presented. Finally, a presentation of the key proteins involved in the chromosome segregation is made.

  5. The spatial arrangement of chromosomes during prometaphase facilitates spindle assembly. (United States)

    Magidson, Valentin; O'Connell, Christopher B; Lončarek, Jadranka; Paul, Raja; Mogilner, Alex; Khodjakov, Alexey


    Error-free chromosome segregation requires stable attachment of sister kinetochores to the opposite spindle poles (amphitelic attachment). Exactly how amphitelic attachments are achieved during spindle assembly remains elusive. We employed photoactivatable GFP and high-resolution live-cell confocal microscopy to visualize complete 3D movements of individual kinetochores throughout mitosis in nontransformed human cells. Combined with electron microscopy, molecular perturbations, and immunofluorescence analyses, this approach reveals unexpected details of chromosome behavior. Our data demonstrate that unstable lateral interactions between kinetochores and microtubules dominate during early prometaphase. These transient interactions lead to the reproducible arrangement of chromosomes in an equatorial ring on the surface of the nascent spindle. A computational model predicts that this toroidal distribution of chromosomes exposes kinetochores to a high density of microtubules which facilitates subsequent formation of amphitelic attachments. Thus, spindle formation involves a previously overlooked stage of chromosome prepositioning which promotes formation of amphitelic attachments.

  6. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J


    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...... with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...

  7. A dynamic, mitotic-like mechanism for bacterial chromosome segregation. (United States)

    Fogel, Michael A; Waldor, Matthew K


    The mechanisms that mediate chromosome segregation in bacteria are poorly understood. Despite evidence of dynamic movement of chromosome regions, to date, mitotic-like mechanisms that act on the bacterial chromosome have not been demonstrated. Here we provide evidence that the Vibrio cholerae ParAI and ParBI proteins are components of an apparatus that pulls the origin region of the large V. cholerae chromosome to the cell pole and anchors it there. ParBI interacts with a conserved origin-proximal, centromere-like site (parSI) that, following chromosome replication, segregates asymmetrically from one pole to the other. While segregating, parSI stretches far away from neighboring chromosomal loci. ParAI forms a dynamic band that extends from the pole to the segregating ParBI/parSI complex. Movement of ParBI/parSI across the cell occurs in concert with ParAI retraction. Deletion of parAI disrupts proper origin localization and segregation dynamics, and parSI no longer separates from nearby regions. These data suggest that ParAI forms a dynamic structure that pulls the ParBI-bound chromosome to the pole in a process analogous to anaphase of eukaryotic mitosis.

  8. Release of chromosomes from the nuclear envelope: a universal mechanism for eukaryotic mitosis? (United States)

    Kanoh, Junko


    Multiple domains of chromosomes are associated with the nuclear envelope (NE) in interphase. The association between chromosomes and the NE is involved in a variety of chromosomal reactions, such as gene expression and DNA repair. However, efficient chromosome movements are required for the fidelity of chromosome segregation in mitosis. Most higher eukaryotes perform open mitosis, in which the NE is broken down, enabling chromosomes to be released from the NE as well as spindle microtubules to access to kinetochores. By contrast, lower eukaryotes, such as Schizosaccharomyces pombe, perform closed mitosis, during which NE breakdown does not occur. In S. pombe, telomeres are tethered to the NE in interphase. Phosphorylation of the telomere-binding protein Rap1 at M phase promotes transient dissociation of telomeres from the NE, facilitating the faithful chromosome segregation. These findings imply a common mechanism for genome stability via the dissociation of chromosomes from the NE in eukaryotic mitosis.

  9. Chromosome painting reveals asynaptic full alignment of homologs and HIM-8-dependent remodeling of X chromosome territories during Caenorhabditis elegans meiosis.

    Directory of Open Access Journals (Sweden)

    Kentaro Nabeshima


    Full Text Available During early meiotic prophase, a nucleus-wide reorganization leads to sorting of chromosomes into homologous pairs and to establishing associations between homologous chromosomes along their entire lengths. Here, we investigate global features of chromosome organization during this process, using a chromosome painting method in whole-mount Caenorhabditis elegans gonads that enables visualization of whole chromosomes along their entire lengths in the context of preserved 3D nuclear architecture. First, we show that neither spatial proximity of premeiotic chromosome territories nor chromosome-specific timing is a major factor driving homolog pairing. Second, we show that synaptonemal complex-independent associations can support full lengthwise juxtaposition of homologous chromosomes. Third, we reveal a prominent elongation of chromosome territories during meiotic prophase that initiates prior to homolog association and alignment. Mutant analysis indicates that chromosome movement mediated by association of chromosome pairing centers (PCs with mobile patches of the nuclear envelope (NE-spanning SUN-1/ZYG-12 protein complexes is not the primary driver of territory elongation. Moreover, we identify new roles for the X chromosome PC (X-PC and X-PC binding protein HIM-8 in promoting elongation of X chromosome territories, separable from their role(s in mediating local stabilization of pairing and association of X chromosomes with mobile SUN-1/ZYG-12 patches. Further, we present evidence that HIM-8 functions both at and outside of PCs to mediate chromosome territory elongation. These and other data support a model in which synapsis-independent elongation of chromosome territories, driven by PC binding proteins, enables lengthwise juxtaposition of chromosomes, thereby facilitating assessment of their suitability as potential pairing partners.

  10. Mitosin/CENP-F is a conserved kinetochore protein subjected to cytoplasmic dynein-mediated poleward transport

    Institute of Scientific and Technical Information of China (English)



    Mitosin/CENP-F is a human nuclear protein transiently associated with the outer kinetochore plate in M phase and is involved in M phase progression. LEK1 and CMF1, which are its murine and chicken orthologs, however, are implicated in muscle differentiation and reportedly not distributed at kinetochores.We therefore conducted several assays to clarify this issue. The typical centromere staining patterns were observed in mitotic cells from both human primary culture and murine, canine, and mink cell lines. A C-terminal portion of LEK1 also conferred centromere localization. Our analysis further suggests conserved kinetochore localization of mammalian mitosin orthologs. Moreover, mitosin was associated preferentially with kinetochores of unaligned chromosomes. It was also constantly transported from kinetochores to spindle poles by cytoplasmic dynein. These properties resemble those of other kinetochore proteins important for the spindle checkpoint, thus implying a role of mitosin in this checkpoint. Therefore, mitosin family may serve as multifunctional proteins involved in both mitosis and differentiation.

  11. XYY chromosome anomaly and schizophrenia. (United States)

    Rajagopalan, M; MacBeth, R; Varma, S L


    Sex chromosome anomalies have been associated with psychoses, and most of the evidence is linked to the presence of an additional X chromosome. We report a patient with XYY chromosome anomaly who developed schizophrenia.

  12. Sequential cloning of chromosomes (United States)

    Lacks, S.A.


    A method for sequential cloning of chromosomal DNA of a target organism is disclosed. A first DNA segment homologous to the chromosomal DNA to be sequentially cloned is isolated. The first segment has a first restriction enzyme site on either side. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction (class IIS) enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes. 9 figs.

  13. Chromosomal mosaicism goes global

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B


    Full Text Available Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy. It has long been suggested that this phenomenon poorly contributes both to intercellular (interindividual diversity and to human disease. However, our views have recently become to change due to a series of communications demonstrated a higher incidence of chromosomal mosaicism in diseased individuals (major psychiatric disorders and autoimmune diseases as well as depicted chromosomal mosaicism contribution to genetic diversity, the central nervous system development, and aging. The later has been produced by significant achievements in the field of molecular cytogenetics. Recently, Molecular Cytogenetics has published an article by Maj Hulten and colleagues that has provided evidences for chromosomal mosaicism to underlie formation of germline aneuploidy in human female gametes using trisomy 21 (Down syndrome as a model. Since meiotic aneuploidy is suggested to be the leading genetic cause of human prenatal mortality and postnatal morbidity, these data together with previous findings define chromosomal mosaicism not as a casual finding during cytogenetic analyses but as a more significant biological phenomenon than previously recognized. Finally, the significance of chromosomal mosaicism can be drawn from the fact, that this phenomenon is involved in genetic diversity, normal and abnormal prenatal development, human diseases, aging, and meiotic aneuploidy, the intrinsic cause of which remains, as yet, unknown.




    Studies of the chromosomes of four American marsupials demonstrated that Caluromys derbianus and Marmosa mexicana have a diploid number of 14 chromosomes, and that Philander opossum and Didelphis marsupialis have a diploid number of 22. The karyotypes of C. derbianus and M. mexicana are similar, whereas those of P. opossum and D. marsupialis are dissimilar. If the 14-chromosome karyotype represents a reduction from a primitive number of 22, these observations suggest that the change has occurred independently in the American and Australasian forms.

  15. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz


    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  16. [Sex chromosomes and meiosis]. (United States)

    Guichaoua, M-R; Geoffroy-Siraudin, C; Tassistro, V; Ghalamoun-Slaimi, R; Perrin, J; Metzler-Guillemain, C


    Sex chromosome behaviour fundamentally differs between male and female meiosis. In oocyte, X chromosomes synapse giving a XX bivalent which is not recognizable in their morphology and behaviour from autosomal bivalents. In human male, X and Y chromosomes differ from one another in their morphology and their genetic content, leading to a limited pairing and preventing genetic recombination, excepted in homologous region PAR1. During pachytene stage of the first meiotic prophase, X and Y chromosomes undergo a progressive condensation and form a transcriptionally silenced peripheral XY body. The condensation of the XY bivalent during pachytene stage led us to describe four pachytene substages and to localize the pachytene checkpoint between substages 2 and 3. We also defined the pachytene index (PI=P1+P2/P1+P2+P3+P4) which is always less than 0.50 in normal meiosis. XY body undergoes decondensation at diplotene stage, but transcriptional inactivation of the two sex chromosomes or Meiotic Sex Chromosome Inactivation (MSCI) persists through to the end of spermatogenesis. Sex chromosome inactivation involves several proteins, some of them were now identified. Two isoforms of the HP1 protein, HP1beta and HP1gamma, are involved in the facultative heterochromatinization of the XY body, but the initiation of this process involves the phosphorylation of the protein H2AX by the kinase ATR whose recruitment depends on BRCA1. Extensive researches on the inactivation of the sex chromosomes during male meiosis will allow to a better understanding of some male infertilities.

  17. Chromosome doubling method (United States)

    Kato, Akio


    The invention provides methods for chromosome doubling in plants. The technique overcomes the low yields of doubled progeny associated with the use of prior techniques for doubling chromosomes in plants such as grasses. The technique can be used in large scale applications and has been demonstrated to be highly effective in maize. Following treatment in accordance with the invention, plants remain amenable to self fertilization, thereby allowing the efficient isolation of doubled progeny plants.

  18. Activation of X Chromosome Inactivation

    NARCIS (Netherlands)

    C.M. Maduro (Cheryl)


    markdownabstractIn mammals, males are the heterogametic sex having an X chromosome and a Y chromosome whereas females have two X chromosomes. Despite originating from an ancient homologous autosomal pair, the X and Y chromosome now differ greatly in size and gene content after ~180 MY of evolution.

  19. Vibrio chromosomes share common history

    Directory of Open Access Journals (Sweden)

    Gevers Dirk


    Full Text Available Abstract Background While most gamma proteobacteria have a single circular chromosome, Vibrionales have two circular chromosomes. Horizontal gene transfer is common among Vibrios, and in light of this genetic mobility, it is an open question to what extent the two chromosomes themselves share a common history since their formation. Results Single copy genes from each chromosome (142 genes from chromosome I and 42 genes from chromosome II were identified from 19 sequenced Vibrionales genomes and their phylogenetic comparison suggests consistent phylogenies for each chromosome. Additionally, study of the gene organization and phylogeny of the respective origins of replication confirmed the shared history. Conclusions Thus, while elements within the chromosomes may have experienced significant genetic mobility, the backbones share a common history. This allows conclusions based on multilocus sequence analysis (MLSA for one chromosome to be applied equally to both chromosomes.

  20. Coordinated Cluster, ground-based instrumentation and low-altitude satellite observations of transient poleward-moving events in the ionosphere and in the tail lobe

    Directory of Open Access Journals (Sweden)

    M. Lockwood

    Full Text Available During the interval between 8:00–9:30 on 14 January 2001, the four Cluster spacecraft were moving from the central magnetospheric lobe, through the dusk sector mantle, on their way towards intersecting the magnetopause near 15:00 MLT and 15:00 UT. Throughout this interval, the EISCAT Svalbard Radar (ESR at Longyearbyen observed a series of poleward-moving transient events of enhanced F-region plasma concentration ("polar cap patches", with a repetition period of the order of 10 min. Allowing for the estimated solar wind propagation delay of 75 ( ± 5 min, the interplanetary magnetic field (IMF had a southward component during most of the interval. The magnetic footprint of the Cluster spacecraft, mapped to the ionosphere using the Tsyganenko T96 model (with input conditions prevailing during this event, was to the east of the ESR beams. Around 09:05 UT, the DMSP-F12 satellite flew over the ESR and showed a sawtooth cusp ion dispersion signature that also extended into the electrons on the equatorward edge of the cusp, revealing a pulsed magnetopause reconnection. The consequent enhanced ionospheric flow events were imaged by the SuperDARN HF backscatter radars. The average convection patterns (derived using the AMIE technique on data from the magnetometers, the EISCAT and SuperDARN radars, and the DMSP satellites show that the associated poleward-moving events also convected over the predicted footprint of the Cluster spacecraft. Cluster observed enhancements in the fluxes of both electrons and ions. These events were found to be essentially identical at all four spacecraft, indicating that they had a much larger spatial scale than the satellite separation of the order of 600 km. Some of the events show a correspondence between the lowest energy magnetosheath electrons detected by the PEACE instrument on Cluster (10–20 eV and the topside ionospheric enhancements seen by the ESR (at 400–700 km. We suggest that a potential barrier at the

  1. "Chromosome": a knowledge-based system for the chromosome classification. (United States)

    Ramstein, G; Bernadet, M


    Chromosome, a knowledge-based analysis system has been designed for the classification of human chromosomes. Its aim is to perform an optimal classification by driving a tool box containing the procedures of image processing, pattern recognition and classification. This paper presents the general architecture of Chromosome, based on a multiagent system generator. The image processing tool box is described from the met aphasic enhancement to the fine classification. Emphasis is then put on the knowledge base intended for the chromosome recognition. The global classification process is also presented, showing how Chromosome proceeds to classify a given chromosome. Finally, we discuss further extensions of the system for the karyotype building.

  2. Functions of spindle check-point and its relationship to chromosome instability

    Institute of Scientific and Technical Information of China (English)


    It is generally believed that the equal distribution of genetic materials to two daughter cells during mitosis is the key to cell health and development. During the dynamic process, spindle checkpoint plays a very important role in chromosome movements and final sister chromatid separation. The equal and precise segregation of chromosomes contributes to the genomic stability while aberrant separations result in chromosome instability that causes pathogenesis of certain diseases such as Down's syndrome and cancers. Kinetochore and its regulatory proteins consist of the spindle checkpoint and determine the spatial and temporal orders of chromosome segregation.

  3. Farnesyltransferase inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells (United States)


    Background Hutchinson-Gilford progeria syndrome (HGPS) is a premature ageing syndrome that affects children leading to premature death, usually from heart infarction or strokes, making this syndrome similar to normative ageing. HGPS is commonly caused by a mutation in the A-type lamin gene, LMNA (G608G). This leads to the expression of an aberrant truncated lamin A protein, progerin. Progerin cannot be processed as wild-type pre-lamin A and remains farnesylated, leading to its aberrant behavior during interphase and mitosis. Farnesyltransferase inhibitors prevent the accumulation of farnesylated progerin, producing a less toxic protein. Results We have found that in proliferating fibroblasts derived from HGPS patients the nuclear location of interphase chromosomes differs from control proliferating cells and mimics that of control quiescent fibroblasts, with smaller chromosomes toward the nuclear interior and larger chromosomes toward the nuclear periphery. For this study we have treated HGPS fibroblasts with farnesyltransferase inhibitors and analyzed the nuclear location of individual chromosome territories. We have found that after exposure to farnesyltransferase inhibitors mis-localized chromosome territories were restored to a nuclear position akin to chromosomes in proliferating control cells. Furthermore, not only has this treatment afforded chromosomes to be repositioned but has also restored the machinery that controls their rapid movement upon serum removal. This machinery contains nuclear myosin 1β, whose distribution is also restored after farnesyltransferase inhibitor treatment of HGPS cells. Conclusions This study not only progresses the understanding of genome behavior in HGPS cells but demonstrates that interphase chromosome movement requires processed lamin A. PMID:21838864

  4. Chromosome numbers in Bromeliaceae

    Directory of Open Access Journals (Sweden)

    Cotias-de-Oliveira Ana Lúcia Pires


    Full Text Available The present study reports chromosome numbers of 17 species of Bromeliaceae, belonging to the genera Encholirium, Bromelia, Orthophytum, Hohenbergia, Billbergia, Neoglaziovia, Aechmea, Cryptanthus and Ananas. Most species present 2n = 50, however, Bromelia laciniosa, Orthophytum burle-marxii and O. maracasense are polyploids with 2n = 150, 2n = 100 and 2n = 150, respectively, while for Cryptanthus bahianus, 2n = 34 + 1-4B. B chromosomes were observed in Bromelia plumieri and Hohenbergia aff. utriculosa. The chromosome number of all species was determined for the first time, except for Billbergia chlorosticta and Cryptanthus bahianus. Our data supports the hypothesis of a basic number of x = 25 for the Bromeliaceae family and decreasing aneuploidy in the genus Cryptanthus.

  5. Those amazing dinoflagellate chromosomes

    Institute of Scientific and Technical Information of China (English)



    Dinoflagellates are a very large and diverse group of eukaryotic algae that play a major role in aquatic food webs of both fresh water and marine habitats. Moreover, the toxic members of this group pose a health threat in the form of red tides. Finally, dinoflagellates are of great evolutionary importance,because of their taxonomic position, and their unusual chromosome structure and composition. While the cytoplasm of dinoflagellates is typically eukaryotic, the nucleus is unique when compared to the nucleus of other eukaryotes. More specifically, while the chromosomes of all other eukaryotes contain histones,dinoflagellate chromosomes lack histones completely. There are no known exceptions to this observation: all dinoflagellates lack histones, and all other eukaryotes contain histones. Nevertheless, dinoflagellates remain a relatively unstudied group of eukaryotes.

  6. Daily scale winter-time sea surface temperature variability and the Iberian Poleward Current in the southern Bay of Biscay from 1981 to 2010

    Directory of Open Access Journals (Sweden)

    G. Esnaola


    Full Text Available The combination of remotely sensed gappy sea surface temperature (SST images with the missing data filling Data Interpolating EOFs (DINEOF technique followed by a Principal Component Analysis of the reconstructed data, has been used to identify the time evolution and the daily scale variability of the winter-time surface signal of the Iberian Poleward Current (IPC during the 1981–2010 period. An exhaustive comparison with the existing bibliography, and the vertical temperature and salinity profiles related to its extremes over the Bay of Biscay area, show that the obtained time series accurately reflect the variability of the IPC. A physical mechanism involving both atmospheric and oceanic variables is proposed in relation to the variability of the IPC. It jointly takes into account several mechanisms that have separately been related to the variability of the IPC, i.e. the south-westerly winds, the Joint Effect of Baroclinicity And Relief (JEBAR effect, the topographic β effect and a weakened North Atlantic Gyre. This mechanism emerges from an atmospheric 500 hPa circulation anomaly that has not a simple relationship with any of the most common North Atlantic teleconnection patterns. It then generates mutually coherent SST and sea level anomaly patterns in the North Atlantic area due to the action of anomalous wind-stress and heat-fluxes, and locally, it also generates the conditions for the mentioned mechanisms in the Bay of Biscay area.

  7. Movement disorders and sleep. (United States)

    Driver-Dunckley, Erika D; Adler, Charles H


    This article summarizes what is currently known about sleep disturbances in several movement disorders including Parkinson disease, essential tremor, parkinsonism, dystonia, Huntington disease, myoclonus, and ataxias. There is an association between movement disorders and sleep. In some cases the prevalence of sleep disorders is much higher in patients with movement disorder, such as rapid eye movement sleep behavior disorder in Parkinson disease. In other cases, sleep difficulties worsen the involuntary movements. In many cases the medications used to treat patients with movement disorder disturb sleep or cause daytime sleepiness. The importance of discussing sleep issues in patients with movement disorders cannot be underestimated.

  8. Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

    Directory of Open Access Journals (Sweden)

    Yerle Martine


    Full Text Available Abstract A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q-;5p+ translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5 were elaborated and hybridised independently on chromosomal preparations of the bull who was a carrier of the mosaic translocation. The impossibility of differentiating chromosomes 2 and der(2 from other chromosomes of the metaphases did not allow the production of painting probes for these chromosomes. For all experiments, the quality of painting was comparable to that usually observed with probes obtained from flow-sorted chromosomes. The results obtained allowed confirmation of the interpretations proposed with G-banding karyotype analyses. In the bovine case, however, the reciprocity of the translocation could not be proven. The results presented in this paper show the usefulness of the microdissection technique for characterising chromosomal rearrangements in species for which commercial probes are not available. They also confirmed that the main limiting factor of the technique is the quality of the chromosomal preparations, which does not allow the identification of target chromosomes or chromosome fragments in all cases.

  9. Chromosomal rearrangement interferes with meiotic X chromosome inactivation


    Homolka, David; Ivanek, Robert; Capkova, Jana; Jansa, Petr; Forejt, Jiri


    Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X–autosomal associations could interfere with meiotic sex chromosome inactivation. Recently, supporting evidence has reported modifications of histones in rearranged chromosomes by a process called the meiotic silencin...

  10. Biomechanics of foetal movement. (United States)

    Nowlan, N C


    Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning, sucking and swallowing) and hiccups by ten weeks of gestational age. There are two key biomechanical aspects to gross foetal movements; the first being that the foetus moves in a dynamically changing constrained physical environment in which the freedom to move becomes increasingly restricted with increasing foetal size and decreasing amniotic fluid. Therefore, the mechanical environment experienced by the foetus affects its ability to move freely. Secondly, the mechanical forces induced by foetal movements are crucial for normal skeletal development, as evidenced by a number of conditions and syndromes for which reduced or abnormal foetal movements are implicated, such as developmental dysplasia of the hip, arthrogryposis and foetal akinesia deformation sequence. This review examines both the biomechanical effects of the physical environment on foetal movements through discussion of intrauterine factors, such as space, foetal positioning and volume of amniotic fluid, and the biomechanical role of gross foetal movements in human skeletal development through investigation of the effects of abnormal movement on the bones and joints. This review also highlights computational simulations of foetal movements that attempt to determine the mechanical forces acting on the foetus as it moves. Finally, avenues for future research into foetal movement biomechanics are highlighted, which have potential impact for a diverse range of fields including foetal medicine, musculoskeletal disorders and tissue engineering.

  11. Biomechanics of foetal movement

    Directory of Open Access Journals (Sweden)

    N.C. Nowlan


    Full Text Available Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning, sucking and swallowing and hiccups by ten weeks of gestational age. There are two key biomechanical aspects to gross foetal movements; the first being that the foetus moves in a dynamically changing constrained physical environment in which the freedom to move becomes increasingly restricted with increasing foetal size and decreasing amniotic fluid. Therefore, the mechanical environment experienced by the foetus affects its ability to move freely. Secondly, the mechanical forces induced by foetal movements are crucial for normal skeletal development, as evidenced by a number of conditions and syndromes for which reduced or abnormal foetal movements are implicated, such as developmental dysplasia of the hip, arthrogryposis and foetal akinesia deformation sequence. This review examines both the biomechanical effects of the physical environment on foetal movements through discussion of intrauterine factors, such as space, foetal positioning and volume of amniotic fluid, and the biomechanical role of gross foetal movements in human skeletal development through investigation of the effects of abnormal movement on the bones and joints. This review also highlights computational simulations of foetal movements that attempt to determine the mechanical forces acting on the foetus as it moves. Finally, avenues for future research into foetal movement biomechanics are highlighted, which have potential impact for a diverse range of fields including foetal medicine, musculoskeletal disorders and tissue engineering.

  12. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli;


    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

  13. Chromosome Variations And Human Behavior (United States)

    Soudek, D.


    Article focused on the science of cytogenetics, which studied the transmission of the units of heredity called chromosomes, and considered the advantage of proper diagnosis of genetic diseases, treated on the chromosomal level. (Author/RK)

  14. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B;


    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  15. Chromosomes, cancer and radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Samouhos, E.


    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.

  16. The Y Chromosome (United States)

    Offner, Susan


    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  17. Why Chromosome Palindromes?

    Directory of Open Access Journals (Sweden)

    Esther Betrán


    Full Text Available We look at sex-limited chromosome (Y or W evolution with particular emphasis on the importance of palindromes. Y chromosome palindromes consist of inverted duplicates that allow for local recombination in an otherwise nonrecombining chromosome. Since palindromes enable intrachromosomal gene conversion that can help eliminate deleterious mutations, they are often highlighted as mechanisms to protect against Y degeneration. However, the adaptive significance of recombination resides in its ability to decouple the evolutionary fates of linked mutations, leading to both a decrease in degeneration rate and an increase in adaptation rate. Our paper emphasizes the latter, that palindromes may exist to accelerate adaptation by increasing the potential targets and fixation rates of incoming beneficial mutations. This hypothesis helps reconcile two enigmatic features of the “palindromes as protectors” view: (1 genes that are not located in palindromes have been retained under purifying selection for tens of millions of years, and (2 under models that only consider deleterious mutations, gene conversion benefits duplicate gene maintenance but not initial fixation. We conclude by looking at ways to test the hypothesis that palindromes enhance the rate of adaptive evolution of Y-linked genes and whether this effect can be extended to palindromes on other chromosomes.

  18. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)


    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  19. [Dicentric Y chromosome]. (United States)

    Abdelmoula, N Bouayed; Amouri, A


    Dicentric Y chromosomes are the most common Y structural abnormalities and their influence on gonadal and somatic development is extremely variable. Here, we report the third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. We find 78 new cases for which molecular studies (PCR or FISH) have been widely applied to investigate SRY (68% of cases), GBY, ZFY, RFS4Y, GCY and different genes at AZF region. For dic(Yq), all cases (n = 20) were mosaic for 45,X and 4 of them were also mosaic for a 46,XY cell line. When breakpoints were available (15/20 cases), they were in Yp11. 50% of cases were phenotypic female and 20% phenotypic male while 20% of cases were reported with gonadal dysgenesis. Gonadal histology was defined in 8 cases but only in one case, gonadal tissu was genetically investigated because of gonadoblastoma. For dic(Yp) (n = 55), mosaicism concerned only 45,X cell line and was found in 50 cases while the remainder five cases were homogeneous. When breakpoints were available, it was at Yq11 in 50 cases and at Yq12 in two cases. 54% of cases were phenotypic female, 26% were phenotypic male and 18% were associated with genitalia ambiguous. SRY was analyzed in 33 cases, sequenced in 9 cases and was muted in only one case. Gonads were histologically explored in 34 cases and genetically investigated in 8 cases. Gonadoblastoma was found in only two cases. Through this review, it seems that phenotype-genotype correlations are still not possible and that homogeneous studies of dic(Y) in more patients using molecular tools for structural characterization of the rearranged Y chromosome and assessment of mosaicism in many organs are necessary to clarify the basis of the phenotypic heterogeneity of dicentric Y chromosomes and then to help phenotypic prediction of such chromosome rearrangement.

  20. Dynamics of X Chromosome Inactivation

    NARCIS (Netherlands)

    F. Loos (Friedemann)


    markdownabstract__Abstract__ Dosage compensation evolved to account for the difference in expression of sex chromosome-linked genes. In mammals dosage compensation is achieved by inactivation of one X chromosome during early female embryogenesis in a process called X chromosome inactivation (XCI).

  1. Movement and Space

    DEFF Research Database (Denmark)

    Riisgaard Hansen, Thomas; Eriksson, Eva; Lykke-Olesen, Andreas


    In this paper we explore the space in which movement based interaction takes place. We have in several projects explored how fixed and mobile cameras can be used in movement based interaction and will shortly describe these projects. Based on our experience with working with movement-based intera......In this paper we explore the space in which movement based interaction takes place. We have in several projects explored how fixed and mobile cameras can be used in movement based interaction and will shortly describe these projects. Based on our experience with working with movement...

  2. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20. (United States)

    Guediche, N; Brisset, S; Benichou, J-J; Guérin, N; Mabboux, P; Maurin, M-L; Bas, C; Laroudie, M; Picone, O; Goldszmidt, D; Prévot, S; Labrune, P; Tachdjian, G


    The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

  3. Familial complex chromosomal rearrangement resulting in a recombinant chromosome. (United States)

    Berend, Sue Ann; Bodamer, Olaf A F; Shapira, Stuart K; Shaffer, Lisa G; Bacino, Carlos A


    Familial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three-way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified.

  4. Proposed Physical Mechanism of Chromosome Segregation in Caulobacter crescentus (United States)

    Banigan, Edward; Gelbart, Michael; Gitai, Zemer; Liu, Andrea; Wingreen, Ned


    Chromosome segregation is a fundamental process for all cells, but the force-generating mechanisms that drive chromosome movements in bacteria are especially unclear. In Caulobacter crescentus, recent work has demonstrated that a structure made up of the ParA protein elongates from one cell pole and interacts with ParB, a protein binding to the chromosome near the origin of replication (ori). ParB disassembles ParA, causing ParA to pull ParB, and thus, the ori to the opposite end of the cell. We performed Brownian dynamics simulations of this system in order to uncover the physical mechanism of this motion. We find that motion of the ori is robust to several variations of the model as long as a steady-state concentration gradient of ParA is established in the moving frame of the ParB-decorated chromosome. We suggest that the mechanism is ``self-diffusiophoretic'': by disassembling ParA, ParB creates a concentration gradient of ParA so that the ParA concentration is higher in front of the chromosome than behind it. Since the chromosome is attracted to ParA via ParB, it moves up the gradient in the desired direction.

  5. Motion of the dayside polar cap boundary during substorm cycles: II. Generation of poleward-moving events and polar cap patches by pulses in the magnetopause reconnection rate

    Directory of Open Access Journals (Sweden)

    M. Lockwood


    Full Text Available Using data from the EISCAT (European Incoherent Scatter VHF and CUTLASS (Co-operative UK Twin-Located Auroral Sounding System HF radars, we study the formation of ionospheric polar cap patches and their relationship to the magnetopause reconnection pulses identified in the companion paper by Lockwood et al. (2005. It is shown that the poleward-moving, high-concentration plasma patches observed in the ionosphere by EISCAT on 23 November 1999, as reported by Davies et al. (2002, were often associated with corresponding reconnection rate pulses. However, not all such pulses generated a patch and only within a limited MLT range (11:00-12:00 MLT did a patch result from a reconnection pulse. Three proposed mechanisms for the production of patches, and of the concentration minima that separate them, are analysed and evaluated: (1 concentration enhancement within the patches by cusp/cleft precipitation; (2 plasma depletion in the minima between the patches by fast plasma flows; and (3 intermittent injection of photoionisation-enhanced plasma into the polar cap. We devise a test to distinguish between the effects of these mechanisms. Some of the events repeat too frequently to apply the test. Others have sufficiently long repeat periods and mechanism (3 is shown to be the only explanation of three of the longer-lived patches seen on this day. However, effect (2 also appears to contribute to some events. We conclude that plasma concentration gradients on the edges of the larger patches arise mainly from local time variations in the subauroral plasma, via the mechanism proposed by Lockwood et al. (2000.

  6. Stereotypic movement disorder (United States)

    ... page: // Stereotypic movement disorder To use the sharing features on this page, please enable JavaScript. Stereotypic movement disorder is a condition in which a person makes ...

  7. Eye Movement Disorders (United States)

    ... work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder in ... the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over time ...

  8. Tectonic Plate Movement. (United States)

    Landalf, Helen


    Presents an activity that employs movement to enable students to understand concepts related to plate tectonics. Argues that movement brings topics to life in a concrete way and helps children retain knowledge. (DDR)

  9. Structural comparison of three types of staphylococcal cassette chromosome mec integrated in the chromosome in methicillin-resistant Staphylococcus aureus. (United States)

    Ito, T; Katayama, Y; Asada, K; Mori, N; Tsutsumimoto, K; Tiensasitorn, C; Hiramatsu, K


    The beta-lactam resistance gene mecA of Staphylococcus aureus is carried by a novel mobile genetic element, designated staphylococcal cassette chromosome mec (SCCmec), identified in the chromosome of a Japanese methicillin-resistant S. aureus (MRSA) strain. We now report identification of two additional types of mecA-carrying genetic elements found in the MRSA strains isolated in other countries of the world. There were substantial differences in the size and nucleotide sequences between the elements and the SCCmec. However, new elements shared the chromosomal integration site with the SCCmec. Structural analysis of the new elements revealed that they possessed all of the salient features of the SCCmec: conserved terminal inverted repeats and direct repeats at the integration junction points, conserved genetic organization around the mecA gene, and the presence of cassette chromosome recombinase (ccr) genes responsible for the movements of SCCmec. The elements, therefore, were considered to comprise the SCCmec family of staphylococcal mobile genetic elements together with the previously identified SCCmec. Among 38 epidemic MRSA strains isolated in 20 countries, 34 were shown to possess one of the three typical SCCmec elements on the chromosome. Our findings indicated that there are at least three distinct MRSA clones in the world with different types of SCCmec in their chromosome.

  10. Chromosome 19 International Workshop

    Energy Technology Data Exchange (ETDEWEB)

    Pericak-Vance, M.A. (Duke Univ., Durham, NC (United States). Medical Center); Ropers, H.H. (Univ. Hospital Nijmegen, (The Netherlands). Dept. of Human Genetics); Carrano, A.J. (Lawrence Livermore National Lab., CA (United States))


    The Second International Workshop on Human Chromosome 19 was hosted on January 25 and 26, 1992, by the Department of Human Genetics, University Hospital Nijmegen, The Netherlands, at the 'Meerdal Conference Center'. The workshop was supported by a grant from the European Community obtained through HUGO, the Dutch Research Organization (NWO) and the Muscular Dystrophy Association (MDA). Travel support for American participants was provided by the Department of Energy. The goals of this workshop were to produce genetic, physical and integrated maps of chromosome 19, to identify inconsistencies and gaps, and to discuss and exchange resources and techniques available for the completion of these maps. The second day of the meeting was largely devoted to region or disease specific efforts. In particular, the meeting served as a platform for assessing and discussing the recent progress made into the molecular elucidation of myotonic dystrophy.

  11. Linking Literacy and Movement (United States)

    Pica, Rae


    There are many links between literacy and movement. Movement and language are both forms of communication and self-expression. Rhythm is an essential component of both language and movement. While people may think of rhythm primarily in musical terms, there is a rhythm to words and sentences as well. Individuals develop an internal rhythm when…

  12. Predicate Movements in Chinese (United States)

    Shou-hsin, Teng


    The movements of such higher predicates as time, locative, and complementation verbs are studied, and Tai's Predicate Placement Constraint is rejected as an incorrect account of predicate movements in Chinese. It is proposed, on the other hand, that there is only leftward movement involving predicates in Chinese. (Author)

  13. Social movements and science

    DEFF Research Database (Denmark)

    Jamison, Andrew


    The article examines the role of social movements in the development of scientific knowledge. Interactions between social movements and science in broad, historical terms are discussed. The relations between the new social movements of the 1960s and 1970s and changes in the contemporary scientific...

  14. The Chromosomal Courtship Dance-homolog pairing in early meiosis. (United States)

    Klutstein, Michael; Cooper, Julia Promisel


    The intermingling of genomes that characterizes sexual reproduction requires haploid gametes in which parental homologs have recombined. For this, homologs must pair during meiosis. In a crowded nucleus where sequence homology is obscured by the enormous scale and packaging of the genome, partner alignment is no small task. Here we review the early stages of this process. Chromosomes first establish an initial docking site, usually at telomeres or centromeres. The acquisition of chromosome-specific patterns of binding factors facilitates homolog recognition. Chromosomes are then tethered to the nuclear envelope (NE) and subjected to nuclear movements that 'shake off' inappropriate contacts while consolidating homolog associations. Thereafter, homolog connections are stabilized by building the synaptonemal complex or its equivalent and creating genetic crossovers. Recent perspectives on the roles of these stages will be discussed.

  15. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q

    Energy Technology Data Exchange (ETDEWEB)

    Fink, J.K.; Rainier, S.; Wilkowski, J.; Jones, S.M. [Univ. of Michigan, Ann Arbor, MI (United States)] [and others


    Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus. 28 refs., 2 figs., 1 tab.

  16. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin


    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  17. Chromosome assortment in Saccharum. (United States)

    Al-Janabi, S M; Honeycutt, R J; Sobral, B W


    Recent work has revealed random chromosome pairing and assortment in Saccharum spontaneum L., the most widely distributed, and morphologically and cytologically variable of the species of Saccharum. This conclusion was based on the analysis of a segregating population from across between S. spontaneum 'SES 208' and a spontaneously-doubled haploid of itself, derived from anther culture. To determine whether polysomic inheritance is common in Saccharum and whether it is observed in a typical biparental cross, we studied chromosome pairing and assortment in 44 progeny of a cross between euploid, meiotically regular, 2n=80 forms of Saccharum officinarum 'LA Purple' and Saccharum robustum ' Mol 5829'. Papuan 2n=80 forms of S. robustum have been suggested as the immediate progenitor species for cultivated sugarcane (S. officinarum). A total of 738 loci in LA Purple and 720 loci in Mol 5829 were amplified and typed in the progeny by arbitrarily primed PCR using 45 primers. Fifty and 33 single-dose polymorphisms were identified in the S. officinarum and S. robustum genomes, respectively (χ 2 at 98%). Linkage analysis of single-dose polymorphisms in both genomes revealed linkages in repulsion and coupling phases. In the S. officinarum genome, a map hypothesis gave 7 linkage groups with 17 linked and 33 unlinked markers. Four of 13 pairwise linkages were in repulsion phase and 9 were in coupling phase. In the S. robustum genome, a map hypothesis gave 5 linkage groups, defined by 12 markers, with 21 markers unlinked, and 2 of 9 pairwise linkages were in repulsion phase. Therefore, complete polysomic inheritance was not observed in either species, suggesting that chromosomal behavior is different from that observed by linkage analysis of over 500 markers in the S. spontaneum map. Implications of this finding for evolution and breeding are discussed.

  18. Heterochromatic threads connect oscillating chromosomes during prometaphase I in Drosophila oocytes.

    Directory of Open Access Journals (Sweden)

    Stacie E Hughes


    Full Text Available In Drosophila oocytes achiasmate homologs are faithfully segregated to opposite poles at meiosis I via a process referred to as achiasmate homologous segregation. We observed that achiasmate homologs display dynamic movements on the meiotic spindle during mid-prometaphase. An analysis of living prometaphase oocytes revealed both the rejoining of achiasmate X chromosomes initially located on opposite half-spindles and the separation toward opposite poles of two X chromosomes that were initially located on the same half spindle. When the two achiasmate X chromosomes were positioned on opposite halves of the spindle their kinetochores appeared to display proper co-orientation. However, when both Xs were located on the same half spindle their kinetochores appeared to be oriented in the same direction. Thus, the prometaphase movement of achiasmate chromosomes is a congression-like process in which the two homologs undergo both separation and rejoining events that result in the either loss or establishment of proper kinetochore co-orientation. During this period of dynamic chromosome movement, the achiasmate homologs were connected by heterochromatic threads that can span large distances relative to the length of the developing spindle. Additionally, the passenger complex proteins Incenp and Aurora B appeared to localize to these heterochromatic threads. We propose that these threads assist in the rejoining of homologs and the congression of the migrating achiasmate homologs back to the main chromosomal mass prior to metaphase arrest.

  19. Chromosome Connections: Compelling Clues to Common Ancestry (United States)

    Flammer, Larry


    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  20. Chromosomal rearrangement interferes with meiotic X chromosome inactivation. (United States)

    Homolka, David; Ivanek, Robert; Capkova, Jana; Jansa, Petr; Forejt, Jiri


    Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X-autosomal associations could interfere with meiotic sex chromosome inactivation. Recently, supporting evidence has reported modifications of histones in rearranged chromosomes by a process called the meiotic silencing of unsynapsed chromatin (MSUC). Here, we report on the transcriptional down-regulation of genes within the unsynapsed region of the rearranged mouse chromosome 17, and on the subsequent disturbance of X chromosome inactivation. The partial transcriptional suppression of genes in the unsynapsed chromatin was most prominent prior to the mid-pachytene stage of primary spermatocytes. Later, during the mid-late pachytene, the rearranged autosomes colocalized with the XY body, and the X chromosome failed to undergo proper transcriptional silencing. Our findings provide direct evidence on the MSUC acting at the mRNA level, and implicate that autosomal asynapsis in meiosis may cause male sterility by interfering with meiotic sex chromosome inactivation.

  1. MreB actin-mediated segregation of a specific region of a bacterial chromosome. (United States)

    Gitai, Zemer; Dye, Natalie Anne; Reisenauer, Ann; Wachi, Masaaki; Shapiro, Lucy


    Faithful chromosome segregation is an essential component of cell division in all organisms. The eukaryotic mitotic machinery uses the cytoskeleton to move specific chromosomal regions. To investigate the potential role of the actin-like MreB protein in bacterial chromosome segregation, we first demonstrate that MreB is the direct target of the small molecule A22. We then demonstrate that A22 completely blocks the movement of newly replicated loci near the origin of replication but has no qualitative or quantitative effect on the segregation of other loci if added after origin segregation. MreB selectively interacts, directly or indirectly, with origin-proximal regions of the chromosome, arguing that the origin-proximal region segregates via an MreB-dependent mechanism not used by the rest of the chromosome.

  2. Lack of response to unaligned chromosomes in mammalian female gametes. (United States)

    Sebestova, Jaroslava; Danylevska, Anna; Novakova, Lucia; Kubelka, Michal; Anger, Martin


    Chromosome segregation errors are highly frequent in mammalian female meiosis, and their incidence gradually increases with maternal age. The fate of aneuploid eggs is obviously dependent on the stringency of mechanisms for detecting unattached or repairing incorrectly attached kinetochores. In case of their failure, the newly formed embryo will inherit the impaired set of chromosomes, which will have severe consequences for its further development. Whether spindle assembly checkpoint (SAC) in oocytes is capable of arresting cell cycle progression in response to unaligned kinetochores was discussed for a long time. It is known that abolishing SAC increases frequency of chromosome segregation errors and causes precocious entry into anaphase; SAC, therefore, seems to be essential for normal chromosome segregation in meiosis I. However, it was also reported that for anaphase-promoting complex (APC) activation, which is a prerequisite for entering anaphase; alignment of only a critical mass of kinetochores on equatorial plane is sufficient. This indicates that the function of SAC and of cooperating chromosome attachment correction mechanisms in oocytes is different from somatic cells. To analyze this phenomenon, we used live cell confocal microscopy to monitor chromosome movements, spindle formation, APC activation and polar body extrusion (PBE) simultaneously in individual oocytes at various time points during first meiotic division. Our results, using oocytes from aged animals and interspecific crosses, demonstrate that multiple unaligned kinetochores and severe congression defects are tolerated at the metaphase to anaphase transition, although such cells retain sensitivity to nocodazole. This indicates that checkpoint mechanisms, operating in oocytes at this point, are essential for accurate timing of APC activation in meiosis I, but they are insufficient in detection or correction of unaligned chromosomes, preparing thus conditions for propagation of the aneuploidy

  3. The mathematics of movement (United States)

    Johnson, D.H.


    Review of: Quantitative Analysis of Movement: Measuring and Modeling Population Redistribution in Animals and Plants. Peter Turchin. 1998. Sinauer Associates, Sunderland, MA. 306 pages. $38.95 (paper).

  4. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)


    Cells use ring-like structured protein complexes for various tasks in DNA dynamics. The tripartite cohesin ring is particularly suited to determine chromosome architecture, for it is large and dynamic, may acquire different forms, and is involved in several distinct nuclear processes. This review focuses on cohesin's role in structuring chromosomes during mitotic and meiotic cell divisions and during interphase.

  5. Genetics Home Reference: Y chromosome infertility (United States)

    ... Home Health Conditions Y chromosome infertility Y chromosome infertility Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Y chromosome infertility is a condition that affects the production of ...

  6. Higher order structure of chromosomes. (United States)

    Okada, T A; Comings, D E


    Isolated Chinese hamster metaphase chromosomes were resuspended in 4 M ammonium acetate and spread on a surface of distilled water or 0.15 to 0.5 M ammonium acetate. The DNA was released in the form of a regular series of rosettes connected by interrossette DNA. The mean length of the rosette DNA was 14 micron, similar to the mean length of 10 micron for chromomere DNA of Drosophila polytene chromosomes. The mean interrosette DNA was 4.2 micron. SDS gel electrophoresis of the chromosomal nonhistone proteins showed them to be very similar to nuclear nonhistone proteins except for the presence of more actin and tubulin. Nuclear matrix proteins were present in the chromosomes and may play a role in forming the rosettes. Evidence that the rosette pattern is artifactual versus the possibility that it represents a real organizational substructure of the chromosomes is reviewed.

  7. Bacterial chromosome organization and segregation. (United States)

    Badrinarayanan, Anjana; Le, Tung B K; Laub, Michael T


    If fully stretched out, a typical bacterial chromosome would be nearly 1 mm long, approximately 1,000 times the length of a cell. Not only must cells massively compact their genetic material, but they must also organize their DNA in a manner that is compatible with a range of cellular processes, including DNA replication, DNA repair, homologous recombination, and horizontal gene transfer. Recent work, driven in part by technological advances, has begun to reveal the general principles of chromosome organization in bacteria. Here, drawing on studies of many different organisms, we review the emerging picture of how bacterial chromosomes are structured at multiple length scales, highlighting the functions of various DNA-binding proteins and the impact of physical forces. Additionally, we discuss the spatial dynamics of chromosomes, particularly during their segregation to daughter cells. Although there has been tremendous progress, we also highlight gaps that remain in understanding chromosome organization and segregation.

  8. Chromosome choreography: the meiotic ballet. (United States)

    Page, Scott L; Hawley, R Scott


    The separation of homologous chromosomes during meiosis in eukaryotes is the physical basis of Mendelian inheritance. The core of the meiotic process is a specialized nuclear division (meiosis I) in which homologs pair with each other, recombine, and then segregate from each other. The processes of chromosome alignment and pairing allow for homolog recognition. Reciprocal meiotic recombination ensures meiotic chromosome segregation by converting sister chromatid cohesion into mechanisms that hold homologous chromosomes together. Finally, the ability of sister kinetochores to orient to a single pole at metaphase I allows the separation of homologs to two different daughter cells. Failures to properly accomplish this elegant chromosome dance result in aneuploidy, a major cause of miscarriage and birth defects in human beings.

  9. [Dance/Movement Therapy. (United States)

    Fenichel, Emily, Ed.


    This newsletter theme issue focuses on dance, play, and movement therapy for infants and toddlers with disabilities. Individual articles are: "Join My Dance: The Unique Movement Style of Each Infant and Toddler Can Invite Communication, Expression and Intervention" (Suzi Tortora); "Dynamic Play Therapy: An Integrated Expressive Arts Approach to…

  10. Exploring pedestrian movement patterns

    NARCIS (Netherlands)

    Orellana, D.A.


    The main objective of this thesis is to develop an approach for exploring, analysing and interpreting movement patterns of pedestrians interacting with the environment. This objective is broken down in sub-objectives related to four research questions. A case study of the movement of visitors in a n

  11. Randomness Of Amoeba Movements (United States)

    Hashiguchi, S.; Khadijah, Siti; Kuwajima, T.; Ohki, M.; Tacano, M.; Sikula, J.


    Movements of amoebas were automatically traced using the difference between two successive frames of the microscopic movie. It was observed that the movements were almost random in that the directions and the magnitudes of the successive two steps are not correlated, and that the distance from the origin was proportional to the square root of the step number.

  12. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others


    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  13. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. (United States)

    Marras, Connie; Lang, Anthony; van de Warrenburg, Bart P; Sue, Carolyn M; Tabrizi, Sarah J; Bertram, Lars; Mercimek-Mahmutoglu, Saadet; Ebrahimi-Fakhari, Darius; Warner, Thomas T; Durr, Alexandra; Assmann, Birgit; Lohmann, Katja; Kostic, Vladimir; Klein, Christine


    The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion-based list of confirmed genetically determined movement disorders at the time it was last updated.

  14. Chromatid Painting for Chromosomal Inversion Detection Project (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...



  16. Chromatid Painting for Chromosomal Inversion Detection Project (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  17. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail:


    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes

  18. Auxin and chloroplast movements. (United States)

    Eckstein, Aleksandra; Krzeszowiec, Weronika; Waligórski, Piotr; Gabryś, Halina


    Auxin is involved in a wide spectrum of physiological processes in plants, including responses controlled by the blue light photoreceptors phototropins: phototropic bending and stomatal movement. However, the role of auxin in phototropin-mediated chloroplast movements has never been studied. To address this question we searched for potential interactions between auxin and the chloroplast movement signaling pathway using different experimental approaches and two model plants, Arabidopsis thaliana and Nicotiana tabacum. We observed that the disturbance of auxin homeostasis by shoot decapitation caused a decrease in chloroplast movement parameters, which could be rescued by exogenous auxin application. In several cases, the impairment of polar auxin transport, by chemical inhibitors or in auxin carrier mutants, had a similar negative effect on chloroplast movements. This inhibition was not correlated with changes in auxin levels. Chloroplast relocations were also affected by the antiauxin p-chlorophenoxyisobutyric acid and mutations in genes encoding some of the elements of the SCF(TIR1)-Aux/IAA auxin receptor complex. The observed changes in chloroplast movement parameters are not prominent, which points to a modulatory role of auxin in this process. Taken together, the obtained results suggest that auxin acts indirectly to regulate chloroplast movements, presumably by regulating gene expression via the SCF(TIR1)-Aux/IAA-ARF pathway. Auxin does not seem to be involved in controlling the expression of phototropins.

  19. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine. (United States)

    Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H


    The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

  20. The Ndc80 complex: integrating the kinetochore's many movements. (United States)

    Tooley, John; Stukenberg, P Todd


    The Ndc80 complex lies at the heart of the kinetochore, a large protein machine that accurately segregates chromosomes during cell division. The Ndc80 complex has structural roles in assembling the kinetochore, but also functions to congress chromosomes and to signal the spindle checkpoint. It directly binds to microtubules and is currently the best candidate for the long-sought protein that couples microtubule depolymerization to chromosome movement. A combination of structural and genetic data has recently converged to generate the first models for this fascinating motor activity. Additionally, recent data point to an increasingly dynamic role for Ndc80 in the kinetochore-one which involves not only simple binding to microtubules but also shifts in complex shape and its location within the overall kinetochore structure. In this review, we discuss recent advances in our understanding of the Ndc80 complex and address future areas of research.

  1. Mitotic Protein CSPP1 Interacts with CENP-H Protein to Coordinate Accurate Chromosome Oscillation in Mitosis. (United States)

    Zhu, Lijuan; Wang, Zhikai; Wang, Wenwen; Wang, Chunli; Hua, Shasha; Su, Zeqi; Brako, Larry; Garcia-Barrio, Minerva; Ye, Mingliang; Wei, Xuan; Zou, Hanfa; Ding, Xia; Liu, Lifang; Liu, Xing; Yao, Xuebiao


    Mitotic chromosome segregation is orchestrated by the dynamic interaction of spindle microtubules with the kinetochores. During chromosome alignment, kinetochore-bound microtubules undergo dynamic cycles between growth and shrinkage, leading to an oscillatory movement of chromosomes along the spindle axis. Although kinetochore protein CENP-H serves as a molecular control of kinetochore-microtubule dynamics, the mechanistic link between CENP-H and kinetochore microtubules (kMT) has remained less characterized. Here, we show that CSPP1 is a kinetochore protein essential for accurate chromosome movements in mitosis. CSPP1 binds to CENP-H in vitro and in vivo. Suppression of CSPP1 perturbs proper mitotic progression and compromises the satisfaction of spindle assembly checkpoint. In addition, chromosome oscillation is greatly attenuated in CSPP1-depleted cells, similar to what was observed in the CENP-H-depleted cells. Importantly, CSPP1 depletion enhances velocity of kinetochore movement, and overexpression of CSPP1 decreases the speed, suggesting that CSPP1 promotes kMT stability during cell division. Specific perturbation of CENP-H/CSPP1 interaction using a membrane-permeable competing peptide resulted in a transient mitotic arrest and chromosome segregation defect. Based on these findings, we propose that CSPP1 cooperates with CENP-H on kinetochores to serve as a novel regulator of kMT dynamics for accurate chromosome segregation.

  2. Studying Social Movements

    DEFF Research Database (Denmark)

    Uldam, Julie; McCurdy, Patrick


    The research method of participant observation has long been used by scholars interested in the motivations, dynamics, tactics and strategies of social movements from a movement perspective. Despite participant observation being a common research method, there have been very few efforts to bring...... and then draws specific links to how the method has been used in the study of activism and social movements. In doing so, this article brings together key academic debates on participant observation, which have been considered separately, such as insider/outsider and overt/covert, but not previously been brought...

  3. Social movements in health. (United States)

    Brown, Theodore M; Fee, Elizabeth


    Most public health practitioners know that public health has relied on biomedical advances and administrative improvements, but it is less commonly understood that social movements in health have also been sources of motivation for population health advances. This review considers the impacts of social movements focused on urban conditions and health, on the health of children, and on behavioral and substance-related determinants of health and illustrates how these movements have significantly influenced public health activities and programs. We hope this review will motivate public health workers to make common cause with social activists and to encourage social activists to ally with public health professionals.

  4. Chromosome segregation in Vibrio cholerae. (United States)

    Ramachandran, Revathy; Jha, Jyoti; Chattoraj, Dhruba K


    The study of chromosome segregation is currently one of the most exciting research frontiers in cell biology. In this review, we discuss our current knowledge of the chromosome segregation process in Vibrio cholerae, based primarily on findings from fluorescence microscopy experiments. This bacterium is of special interest because of its eukaryotic feature of having a divided genome, a feature shared with 10% of known bacteria. We also discuss how the segregation mechanisms of V. cholerae compare with those in other bacteria, and highlight some of the remaining questions regarding the process of bacterial chromosome segregation.

  5. Numerous transitions of sex chromosomes in Diptera. (United States)

    Vicoso, Beatriz; Bachtrog, Doris


    Many species groups, including mammals and many insects, determine sex using heteromorphic sex chromosomes. Diptera flies, which include the model Drosophila melanogaster, generally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large rods and a small dot), but superficially similar karyotypes may conceal the true extent of sex chromosome variation. Here, we use whole-genome analysis in 37 fly species belonging to 22 different families of Diptera and uncover tremendous hidden diversity in sex chromosome karyotypes among flies. We identify over a dozen different sex chromosome configurations, and the small dot chromosome is repeatedly used as the sex chromosome, which presumably reflects the ancestral karyotype of higher Diptera. However, we identify species with undifferentiated sex chromosomes, others in which a different chromosome replaced the dot as a sex chromosome or in which up to three chromosomal elements became incorporated into the sex chromosomes, and others yet with female heterogamety (ZW sex chromosomes). Transcriptome analysis shows that dosage compensation has evolved multiple times in flies, consistently through up-regulation of the single X in males. However, X chromosomes generally show a deficiency of genes with male-biased expression, possibly reflecting sex-specific selective pressures. These species thus provide a rich resource to study sex chromosome biology in a comparative manner and show that similar selective forces have shaped the unique evolution of sex chromosomes in diverse fly taxa.

  6. The Circular Camera Movement

    DEFF Research Database (Denmark)

    Hansen, Lennard Højbjerg


    It has been an accepted precept in film theory that specific stylistic features do not express specific content. Nevertheless, it is possible to find many examples in the history of film in which stylistic features do express specific content: for instance, the circular camera movement is used...... such as the circular camera movement. Keywords: embodied perception, embodied style, explicit narration, interpretation, style pattern, television style...

  7. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri


    Full Text Available The aim of the present study was to verify chromosome fragility in freemartin cattle using chromosome aberration (CA and sister chromatid exchange (SCE tests. A total of eighteen co-twins were investigated. Fourteen animals were identified as cytogenetically chimeric (2n=60, XX/XY while 4 were classified as normal. Freemartin cattle showed a higher percentage of aneuploid cells (18.64% and highly significant statistical differences (P < 0.001 in mean values of gaps (4.53 ± 2.05, chromatid breaks (0.26 ± 0.51, and significant statistical differences (P < 0.005 in mean values of chromosome breaks (0.12 ± 0.43 when compared to 10 control animals from single births (aneuploid cells, 11.20%; gaps, 2.01 ± 1.42; chromatid breaks, 0.05 ± 0.22; chromosome breaks, 0.02 ± 0.14.

  8. Escherichia coli Chromosomal Loci Segregate from Midcell with Universal Dynamics. (United States)

    Cass, Julie A; Kuwada, Nathan J; Traxler, Beth; Wiggins, Paul A


    The structure of the Escherichia coli chromosome is inherently dynamic over the duration of the cell cycle. Genetic loci undergo both stochastic motion around their initial positions and directed motion to opposite poles of the rod-shaped cell during segregation. We developed a quantitative method to characterize cell-cycle dynamics of the E. coli chromosome to probe the chromosomal steady-state mobility and segregation process. By tracking fluorescently labeled chromosomal loci in thousands of cells throughout the entire cell cycle, our method allows for the statistical analysis of locus position and motion, the step-size distribution for movement during segregation, and the locus drift velocity. The robust statistics of our detailed analysis of the wild-type E. coli nucleoid allow us to observe loci moving toward midcell before segregation occurs, consistent with a replication factory model. Then, as segregation initiates, we perform a detailed characterization of the average segregation velocity of loci. Contrary to origin-centric models of segregation, which predict distinct dynamics for oriC-proximal versus oriC-distal loci, we find that the dynamics of loci were universal and independent of genetic position.

  9. Ultraviolet microbeam irradiations of epithelial and spermatocyte spindles suggest that forces act on the kinetochore fibre and are not generated by its disassembly. (United States)

    Spurck, T; Forer, A; Pickett-Heaps, J


    Ultraviolet (UV) microbeam irradiations of crane-fly spermatocyte and newt epithelial spindles severed kinetochore fibres (KT-fibres), creating areas of reduced birefringence (ARBs): the remnant KT-fibre consists of two "stubs," a pole-stub attached to the pole and a KT-stub attached to the kinetochore. KT-stubs remained visible but pole-stubs soon became undetectable [Forer et al., 1996]. At metaphase, in both cell types the KT-stub often changed orientation immediately after irradiation and its tip steadily moved poleward. In spermatocytes, the chromosome attached to the KT-stub remained at the equator as the KT-stub elongated. In epithelial cells, the KT-stub sometimes elongated as the associated chromosome remained at the equator; other times the associated chromosome moved poleward together with the KT-stub, albeit only a short distance toward the pole. When an ARB was generated at anaphase, chromosome(s) with a KT-stub often continued to move poleward. In spermatocytes, this movement was accompanied by steady elongation of the KT-stub. In epithelial cells, chromosomes accelerated polewards after irradiation until the KT-stubs reached the pole, after which chromosome movement returned to normal speeds. In some epithelial cells fine birefringent fibres by chance were present along one edge of ARBs; these remnant fibres buckled and broke as the KT-stub and chromosome moved polewards. Similarly, KT-stubs that moved into pole stubs (or astral fibres) caused the pole stubs (or astral fibres) to bend sharply from the point of impact. Our results contradict models of chromosome movement that postulate that force is generated by the kinetochore disassembling the KT-fibre. Instead, these results suggest that poleward directed forces act on the KT-fibre and the KT-stub and suggest that continuity of microtubules between kinetochore and pole is not obligatory for achieving anaphase motion to the pole.

  10. Chromosome Segregation in Vibrio cholerae


    Ramachandran, R.; Jha, J.; Chattoraj, DK


    The study of chromosome segregation is currently one of the most exciting research frontiers in cell biology. In this review, we discuss our current knowledge of the chromosome segregation process in Vibrio cholerae, based primarily on findings from fluorescence microscopy experiments. This bacterium is of special interest because of its eukaryotic feature of having a divided genome, a feature shared with 10% of known bacteria. We also discuss how the segregation mechanisms of V. cholerae com...


    Directory of Open Access Journals (Sweden)

    AA. Momen


    Full Text Available Mirror movement is an interesting but often overlooked neurological soft sign;these movements are described as simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. This neurologic problem is very rarely seen in children; in familial cases there is a positive history of these movements in parents, diminishing with time. Here, we have presented the case of an 11-year old girl with mirror movements in her upper limbs which interfered with her hand writing. Her neurological examination revealed normal results. In this report, we have tried to explain some of the pathophysiologic mechanisms related to these abnormal movements.Keywords:Mirror Movements, Children, Soft neurologic sign

  12. B chromosomes and sex in animals. (United States)

    Camacho, J P M; Schmid, M; Cabrero, J


    Supernumerary (B) chromosomes are dispensable elements found in many eukaryote genomes in addition to standard (A) chromosomes. In many respects, B chromosomes resemble sex chromosomes, so that a common ancestry for them has frequently been suggested. For instance, B chromosomes in grasshoppers, and other insects, show a pycnotic cycle of condensation-decondensation during meiosis remarkably similar to that of the X chromosome. In some cases, B chromosome size is even very similar to that of the X chromosome. These resemblances have led to suggest the X as the B ancestor in many cases. In addition, sex chromosome origin from B chromosomes has also been suggested. In this article, we review the existing evidence for both evolutionary pathways, as well as sex differences for B frequency at adult and embryo progeny levels, B chromosome effects or B chromosome transmission. In addition, we review cases found in the literature showing sex-ratio distortion associated with B chromosome presence, the most extreme case being the paternal sex ratio (PSR) chromosomes in some Hymenoptera. We finally analyse the possibility of B chromosome regularisation within the host genome and, as a consequence of it, whether B chromosomes can become regular members of the host genome.

  13. Origin and domestication of papaya Yh chromosome (United States)

    Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XYh). The hermaphrodite-specific region of the Yh chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previo...

  14. Mechanical continuity and reversible chromosome disassembly within intact genomes removed from living cells (United States)

    Maniotis, A. J.; Bojanowski, K.; Ingber, D. E.


    Chromatin is thought to be structurally discontinuous because it is packaged into morphologically distinct chromosomes that appear physically isolated from one another in metaphase preparations used for cytogenetic studies. However, analysis of chromosome positioning and movement suggest that different chromosomes often behave as if they were physically connected in interphase as well as mitosis. To address this paradox directly, we used a microsurgical technique to physically remove nucleoplasm or chromosomes from living cells under isotonic conditions. Using this approach, we found that pulling a single nucleolus or chromosome out from interphase or mitotic cells resulted in sequential removal of the remaining nucleoli and chromosomes, interconnected by a continuous elastic thread. Enzymatic treatments of interphase nucleoplasm and chromosome chains held under tension revealed that mechanical continuity within the chromatin was mediated by elements sensitive to DNase or micrococcal nuclease, but not RNases, formamide at high temperature, or proteases. In contrast, mechanical coupling between mitotic chromosomes and the surrounding cytoplasm appeared to be mediated by gelsolin-sensitive microfilaments. Furthermore, when ion concentrations were raised and lowered, both the chromosomes and the interconnecting strands underwent multiple rounds of decondensation and recondensation. As a result of these dynamic structural alterations, the mitotic chains also became sensitive to disruption by restriction enzymes. Ion-induced chromosome decondensation could be blocked by treatment with DNA binding dyes, agents that reduce protein disulfide linkages within nuclear matrix, or an antibody directed against histones. Fully decondensed chromatin strands also could be induced to recondense into chromosomes with pre-existing size, shape, number, and position by adding anti-histone antibodies. Conversely, removal of histones by proteolysis or heparin treatment produced chromosome

  15. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)



    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  16. Flow karyotyping and sorting of human chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Peters, D.; Pinkel, D.; Trask, B.; van den Engh, G.; Van Dilla, M.A.


    Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purification of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.

  17. Posttraumatic functional movement disorders. (United States)

    Ganos, C; Edwards, M J; Bhatia, K P


    Traumatic injury to the nervous system may account for a range of neurologic symptoms. Trauma location and severity are important determinants of the resulting symptoms. In severe head injury with structural brain abnormalities, the occurrence of trauma-induced movement disorders, most commonly hyperkinesias such as tremor and dystonia, is well recognized and its diagnosis straightforward. However, the association of minor traumatic events, which do not lead to significant persistent structural brain damage, with the onset of movement disorders is more contentious. The lack of clear clinical-neuroanatomic (or symptom lesion) correlations in these cases, the variable timing between traumatic event and symptom onset, but also the presence of unusual clinical features in a number of such patients, which overlap with signs encountered in patients with functional neurologic disorders, contribute to this controversy. The purpose of this chapter is to provide an overview of the movement disorders, most notably dystonia, that have been associated with peripheral trauma and focus on their unusual characteristics, as well as their overlap with functional neurologic disorders. We will then provide details on pathophysiologic views that relate minor peripheral injuries to the development of movement disorders and compare them to knowledge from primary organic and functional movement disorders. Finally, we will comment on the appropriate management of these disorders.

  18. Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs). (United States)

    Kim, Taehyun; Bershteyn, Marina; Wynshaw-Boris, Anthony


    The fusion of the short (p) and long (q) arms of a chromosome is referred to as a "ring chromosome." Ring chromosome disorders occur in approximately 1 in 50,000-100,000 patients. Ring chromosomes can result in birth defects, mental disabilities, and growth retardation if additional genes are deleted during the formation of the ring. Due to the severity of these large-scale aberrations affecting multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have so far been proposed. Our recent study (Bershteyn et al.) using patient-derived fibroblast lines containing ring chromosomes, found that cellular reprogramming of these fibroblasts into induced pluripotent stem cells (iPSCs) resulted in the cell-autonomous correction of the ring chromosomal aberration via compensatory uniparental disomy (UPD). These observations have important implications for studying the mechanism of chromosomal number control and may lead to the development of effective therapies for other, more common, chromosomal aberrations.

  19. Legacy of the Environmental Movement (United States)

    Albrecht, Stan L.


    An effort to select an important contemporary social movement (the environmental movement) and to assess some of the important impacts it has had on the larger society. This review of the environmental movement indicates it may be following a path similiar to the life-cycle of previous movements. (Author/BT)

  20. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.


    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  1. Movement as utopia. (United States)

    Couton, Philippe; López, José Julián


    Opposition to utopianism on ontological and political grounds has seemingly relegated it to a potentially dangerous form of antiquated idealism. This conclusion is based on a restrictive view of utopia as excessively ordered panoptic discursive constructions. This overlooks the fact that, from its inception, movement has been central to the utopian tradition. The power of utopianism indeed resides in its ability to instantiate the tension between movement and place that has marked social transformations in the modern era. This tension continues in contemporary discussions of movement-based social processes, particularly international migration and related identity formations, such as open borders transnationalism and cosmopolitanism. Understood as such, utopia remains an ongoing and powerful, albeit problematic instrument of social and political imagination.

  2. Dean flow fractionation of chromosomes (United States)

    Hockin, Matt; Sant, Himanshu J.; Capecchi, Mario; Gale, Bruce K.


    Efforts to transfer intact mammalian chromosomes between cells have been attempted for more than 50 years with the consistent result being transfer of sub unit length pieces regardless of method. Inertial microfluidics is a new field that has shown much promise in addressing the fractionation of particles in the 2-20 μm size range (with unknown limits) and separations are based upon particles being carried by curving confined flows (within a spiral shaped, often rectangular flow chamber) and migrating to stable "equilibrium" positions of varying distance from a chamber wall depending on the balance of dean and lift forces. We fabricated spiral channels for inertial microfluidic separations using a standard soft lithography process. The concentration of chromosomes, small contaminant DNA and large cell debris in each outlets were evaluated using microscope (60X) and a flow cytometer. Using Dean Flow Fractionation, we were able to focus 4.5 times more chromosomes in outlet 2 compared to outlet 4 where most of the large debris is found. We recover 16% of the chromosomes in outlet #1- 50% in 2, 23% in 3 and 11% in 4. It should be noted that these estimates of recovery do not capture one piece of information- it actually may be that the chromosomes at each outlet are physically different and work needs to be done to verify this potential.

  3. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola


    Full Text Available Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved.

  4. The Reduction of Chromosome Number in Meiosis Is Determined by Properties Built into the Chromosomes


    Paliulis, Leocadia V.; Nicklas, R. Bruce


    In meiosis I, two chromatids move to each spindle pole. Then, in meiosis II, the two are distributed, one to each future gamete. This requires that meiosis I chromosomes attach to the spindle differently than meiosis II chromosomes and that they regulate chromosome cohesion differently. We investigated whether the information that dictates the division type of the chromosome comes from the whole cell, the spindle, or the chromosome itself. Also, we determined when chromosomes can switch from ...

  5. Music, Movement, and Poetry. (United States)

    Carmichael, Karla D.

    This paper's premise is that music, movement, and poetry are unique and creative methods to be used by the counselor in working with both children and adults. Through these media, the counselor generates material for the counseling session that may not be available through more traditional "talk therapies." The choice of music as a counseling…

  6. Mungiki as Youth Movement

    DEFF Research Database (Denmark)

    Rasmussen, Jacob


    Like many other African countries, Kenya has a large and growing youth population. Some of the youths are mobilized into militant and political networks; one of these is the Mungiki movement. The article explores Mungiki’s combination of politics, religion and Kikuyu traditions. Using the examples...

  7. Autoimmune movement disorders. (United States)

    Mckeon, Andrew; Vincent, Angela


    Autoimmune movement disorders encapsulate a large and diverse group of neurologic disorders occurring either in isolation or accompanying more diffuse autoimmune encephalitic illnesses. The full range of movement phenomena has been described and, as they often occur in adults, many of the presentations can mimic neurodegenerative disorders, such as Huntington disease. Disorders may be ataxic, hypokinetic (parkinsonism), or hyperkinetic (myoclonus, chorea, tics, and other dyskinetic disorders). The autoantibody targets are diverse and include neuronal surface proteins such as leucine-rich, glioma-inactivated 1 (LGI1) and glycine receptors, as well as antibodies (such as intracellular antigens) that are markers of a central nervous system process mediated by CD8+ cytotoxic T cells. However, there are two conditions, stiff-person syndrome (also known as stiff-man syndrome) and progressive encephalomyelitis with rigidity and myoclonus (PERM), that are always autoimmune movement disorders. In some instances (such as Purkinje cell cytoplasmic antibody-1 (PCA-1) autoimmunity), antibodies detected in serum and cerebrospinal fluid can be indicative of a paraneoplastic cause, and may direct the cancer search. In other instances (such as 65kDa isoform of glutamic acid decarboxylase (GAD65) autoimmunity), a paraneoplastic cause is very unlikely, and early treatment with immunotherapy may promote improvement or recovery. Here we describe the different types of movement disorder and the clinical features and antibodies associated with them, and discuss treatment.

  8. Measuring Facial Movement (United States)

    Ekman, Paul; Friesen, Wallace V.


    The Facial Action Code (FAC) was derived from an analysis of the anatomical basis of facial movement. The development of the method is explained, contrasting it to other methods of measuring facial behavior. An example of how facial behavior is measured is provided, and ideas about research applications are discussed. (Author)

  9. Psychogenic Movement Disorders

    Directory of Open Access Journals (Sweden)

    Chakravarty Ambar


    Full Text Available Psychogenic movement Disorders (PMD may result from somatoform disorders, factitious disorders, malingering, depression anxiety disorders and less frequently, histrionic personality disorders. First recognized by Henry Head in early twentieth century, PMD s commonly encountered and clues to their differentiation from organic disease. A generally accepted management protocol has been outlined.

  10. The Hopi Traditionalist Movement. (United States)

    Clemmer, Richard O.


    Traces development of Hopi Traditionalism since 1906 as a social movement within the context of Hopi culture and sociopolitical history. Discusses the role of ideology in mediating political and economic conditions of history and collective cultural consciousness. Offers conclusions about the political role of indigenous culture and culturally…

  11. The Mastery of Movement. (United States)

    Laban, Rudolf; Ullmann, Lisa

    In this third edition, some amendments and additions have been made to the original text, first published in 1950. As in past editions, the relationship between the inner motivation of movement and the outer functioning of the body is explored. Acting and dancing are shown as activities deeply concerned with man's urge to establish values and…

  12. [Architecture and movement]. (United States)

    Rivallan, Armel


    Leading an architectural project means accompanying the movement which it induces within the teams. Between questioning, uncertainty and fear, the organisational changes inherent to the new facility must be subject to constructive and ongoing exchanges. Ethics, safety and training are revised and the unit projects are sometimes modified.

  13. West African Antislavery Movements

    DEFF Research Database (Denmark)

    Hahonou, Eric Komlavi; Pelckmans, Lotte


    -slavery movements had raised awareness, this political emergence was even easier. Indeed the fight against ‘slave mentalities’ was everywhere a major challenge and a crucial step to mobilize groups of slave status under a united force. As this article argues changes in political structures and changes in political...

  14. Emergence of male-biased genes on the chicken Z-chromosome: sex-chromosome contrasts between male and female heterogametic systems. (United States)

    Ellegren, Hans


    There has been extensive traffic of male-biased genes out of the mammalian and Drosophila X-chromosomes, and there are also reports of an under-representation of male-biased genes on the X. This may reflect an adaptive process driven by natural selection where an autosomal location of male-biased genes is favored since male genes are only exposed to selection one-third of the time when X-linked. However, there are several alternative explanations to "out-of-the-X" gene movement, including mutational bias and a means for X-linked genes to escape meiotic sex chromosome inactivation (MSCI) during spermatogenesis. As a critical test of the hypothesis that genomic relocation of sex-biased genes is an adaptive process, I examined the emergence, and loss, of genes on the chicken Z-chromosome, i.e., a female heterogametic system (males ZZ, females ZW). Here, the analogous prediction would be an emergence of male-biased genes onto, not a loss from, the Z-chromosome because Z is found more often in males than autosomes are. I found that genes expressed in testis but not in ovary are highly over-represented among genes that have emerged on the Z-chromosome during avian evolution. Moreover, genes with male-biased expression are similarly over-represented among new Z-chromosomal genes. Interestingly, genes with female-biased expression have more often moved from than to the Z-chromosome. These observations show that male and female heterogametic organisms display opposing directionalities in the emergence and loss of sex-biased genes on sex chromosomes. This is consistent with theoretical models on the evolution of sexually antagonistic genes in which new mutations are at least partly dominant.

  15. Chromosome-specific families in Vibrio genomes

    Directory of Open Access Journals (Sweden)

    Oksana eLukjancenko


    Full Text Available We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown. Of the chromosome specific core protein families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different `Molecular Function` GO categories were found for chromosome 1 specific protein families, and these include several broad activities: pyridoxine 5' phosphate synthetase, glucosylceramidase, heme transport, DNA ligase, amino acid binding, and ribosomal components; in contrast, chromosome 2 specific protein families have only 66 Molecular Function GO terms and include many membrane-associated activities, such as ion channels, transmembrane transporters, and electron transport chain proteins. Thus, it appears that whilst there are many 'housekeeping systems' encoded in chromosome 1, there are far fewer core functions found in chromosome 2. However, the presence of many membrane-associated encoded proteins in chromosome 2 is surprising.

  16. Measurements of the movement of the jet streams at mid-latitudes, in the Northern and Southern Hemispheres, 1979 to 2010

    Directory of Open Access Journals (Sweden)

    R. D. Hudson


    Full Text Available Previous studies have shown that the mean latitude of the sub-tropical jet streams in both hemispheres have shifted toward the poles over the last few decades. This paper presents a study of the movement of both the subtropical and Polar fronts, the location of the respective jet streams, between 1979 and 2010 at mid-latitudes, using total ozone measurements to identify the sharp horizontal boundary that occurs at the position of the fronts. Previous studies have shown that the two fronts are the boundaries of three distinct regimes in the stratosphere, corresponding to the Hadley, Ferrel, and polar meridionally overturning circulation cells in the troposphere. Over the period of study the horizontal area of the Hadley cell has increased at latitudes between 20 and 60 degrees while the area of the Polar cell has decreased. A linear regression analysis was performed to identify the major factors associated with the movement of the subtropical jet streams. These were: (1 changes in the Tropical land plus ocean temperature, (2 direct radiative forcing from greenhouse gases in the troposphere, (3 changes in the temperature of the lower tropical stratosphere, (4 the Quasi-Biennial Oscillation, and (5 volcanic eruptions. The dominant mechanism was the direct radiative forcing from greenhouse gases. Between 1979 and 2010 the poleward movement of the subtropical jet streams was 3.7 ± 0.3 degrees in the Northern Hemisphere and 6.5 ± 0.2 degrees in the Southern Hemisphere. Previous studies have shown that weather systems tend to follow the jet streams. The observed poleward movement in both hemispheres over the past thirty years represents a significant change in the position of the sub-tropical jet streams, which should lead to significant latitudinal shifts in the global weather patterns and the hydrologic cycle.

  17. Sex chromosome rearrangements in Polyphaga beetles. (United States)

    Dutrillaux, A M; Dutrillaux, B


    The presence of a parachute sex chromosome bivalent (Xyp) at metaphase I of male meiosis is a well-known characteristic of Coleoptera, present in almost all families of this order and assumed to represent their ancestral sex chromosome formula. Sex chromosomes appear to be manifold more frequently involved in inter-chromosomal rearrangements than the average of the nine autosomal pairs usually forming their karyotype. This leads to various formulae such as neo-sex, multiple sex and perhaps unique sex chromosomes. These rearrangements alter the intimate association between sex chromosomes and nucleolar proteins, which are usual components of the Xyp. Different situations, selected in a series of 125 mitotic and meiotic cytogenetic studies of Polyphaga beetle species, are reported and discussed, with the aim to improve our knowledge on the mechanisms of sex chromosome rearrangements, the relationships with nucleoli and the consequences on dosage compensation and chromosome segregation.

  18. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David


    We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...

  19. Chromosome Territory Modeller and Viewer. (United States)

    Tkacz, Magdalena A; Chromiński, Kornel; Idziak-Helmcke, Dominika; Robaszkiewicz, Ewa; Hasterok, Robert


    This paper presents ChroTeMo, a tool for chromosome territory modelling, accompanied by ChroTeVi-a chromosome territory visualisation software that uses the data obtained by ChroTeMo. These tools have been developed in order to complement the molecular cytogenetic research of interphase nucleus structure in a model grass Brachypodium distachyon. Although the modelling tool has been initially created for one particular species, it has universal application. The proposed version of ChroTeMo allows for generating a model of chromosome territory distribution in any given plant or animal species after setting the initial, species-specific parameters. ChroTeMo has been developed as a fully probabilistic modeller. Due to this feature, the comparison between the experimental data on the structure of a nucleus and the results obtained from ChroTeMo can indicate whether the distribution of chromosomes inside a nucleus is also fully probabilistic or is subjected to certain non-random patterns. The presented tools have been written in Python, so they are multiplatform, portable and easy to read. Moreover, if necessary they can be further developed by users writing their portions of code. The source code, documentation, and wiki, as well as the issue tracker and the list of related articles that use ChroTeMo and ChroTeVi, are accessible in a public repository at Github under GPL 3.0 license.


    We have used CHEF gel electrophoresis to screen preparations of large DNA from different Burkholderia cepacia isolates for the presence of DNA species corresponding to the linearized forms of the three chromosomes of 3.4,2.5, and 0.9 Mb identified in B. cepacia strain 17616. DNA ...

  1. Chromosome synteny in cucumis species (United States)

    Cucumber, Cucumis sativus L. (2n = 2x = 14) and melon, C. melo L. (2n = 2x = 24) are two important vegetable species in the genus Cucumis (family Cucurbitaceae). Two inter-fertile botanical varieties with 14 chromosomes, the cultivated C. sativus var. sativus L. and the wild C. sativus var. hardwick...

  2. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest


    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  3. Automatic Chloroplast Movement Analysis. (United States)

    Johansson, Henrik; Zeidler, Mathias


    In response to low or high intensities of light, the chloroplasts in the mesophyll cells of the leaf are able to increase or decrease their exposure to light by accumulating at the upper and lower sides or along the side walls of the cell respectively. This movement, regulated by the phototropin blue light photoreceptors phot1 and phot2, results in a decreased or increased transmission of light through the leaf. This way the plant is able to optimize harvesting of the incoming light or avoid damage caused by excess light. Here we describe a method that indirectly measures the movement of chloroplasts by taking advantage of the resulting change in leaf transmittance. By using a microplate reader, quantitative measurements of chloroplast accumulation or avoidance can be monitored over time, for multiple samples with relatively little hands-on time.

  4. [Ergonomic movement in dentistry]. (United States)

    Bos-Huizer, J J A; Bolderman, F W


    'Ergonomic movement in dentistry' is a recently developed ergonomic programme for dental healthcare professionals which is intended to prevent work-related complaints and assist in recovering from them. The programme is recommended by disability insurers in cases of specific physical complaints, limitations or disability, as a consequence of which a dental healthcare professional is unable to carry out his or her work. In a four-day training programme, in one's own workplace, skills are taught in the areas of work organization, work attitude and movement. These skills are directly applied in the treatment ofpatients and, if necessary, further improved. In this way, one advances step by step to an ergonomic way of working. Evaluations have shown that the programme is advantageous for the attitude toward work, the workplace and the work organization as well as the reduction of disability.

  5. Studying frozen movement

    Directory of Open Access Journals (Sweden)

    Jeremy White


    Full Text Available Review of Spyros Papapetros, On the Animation of the Inorganic: Art, Architecture, and the Extension of Life: Spyros Papapetros examines ideas about simulated movement and inorganic life during and after the turn of the twentieth century. Exploring works of a selection of important art historians as well as artists and architects of the period, the author maintains that the ability to identify with material objects was repressed by modernist culture, and yet found expression stylistically through depictions of inorganic forms. That expression is shown to have continuity with older medieval and renaissance depictions. The book is organized by a narrative that evokes the modes of inquiry documented and critiqued by the content of the book, employing movement as a narrative device, a metaphor, while serving as a subject of inquiry.

  6. Structural and physical aspects of bacterial chromosome segregation. (United States)

    Woldringh, Conrad L; Nanninga, Nanne


    Microscopic observations on the bacterial nucleoid suggest that the chromosome occurs in the cell as a compact nucleoid phase separate from the cytoplasm. Physical theory likewise predicts a phase separation, taking into consideration DNA supercoiling, nucleoid-binding proteins, and excluded-volume interactions between DNA and cytoplasmic proteins. Specific DNA loci, visualized as oriC-GFP spots in the densely packed nucleoid, exhibit a very low diffusion coefficient indicating that they are virtually immobile and may primarily be moved by overall length growth. Such gradual movement could be effectuated by replication, transertion (combined transcription, translation, and insertion of proteins), and actin- (MreB) directed surface synthesis. Differences in the movement and positioning of gene loci between Escherichia coli and Caulobacter crescentus are discussed. We propose that a low diffusion coefficient could explain the linear positioning of genes in the nucleoid and that differential transcriptional activity could induce different mobilities between either replichores (E. coli) or daughter strands (C. crescentus). The transertion process, possibly in combination with MreB cytoskeletal tracks, could overcome the compaction forces and move specific chromosomal regions and the nucleoid as a whole without invoking a dedicated mechanism.

  7. Confronting Islamic Jihadist Movements

    Directory of Open Access Journals (Sweden)

    M. Afzal Upal


    Full Text Available This paper argues that in order to win the long-term fight against Islamic Jihadist movements, we must confront their ideological foundations and provide the majority of Muslims with an alternative narrative that satisfies their social identity needs for a positive esteem.  By analysing social identity dynamics of Western-Muslim interactions, this paper presents some novel ideas that can lead to the creation of such a narrative.

  8. Human Purposive Movement Theory (United States)


    movement patterns; for example, horses , deer, and javelina exhibit grazing behaviors that are similar to, but not quite the same as, cattle. Individual...conveyance would be modeled. This might be as simple as a person riding a horse , mule, camel, or burro, or as complex as a multiwheeled truck, train...or tracked vehicle. The assumption presented is that each system of conveyance reflects the will of its operator/ rider , whether that system is a

  9. Monitoring underground movements

    CERN Multimedia

    Antonella Del Rosso


    On 16 September 2015 at 22:54:33 (UTC), an 8.3-magnitude earthquake struck off the coast of Chile. 11,650 km away, at CERN, a new-generation instrument – the Precision Laser Inclinometer (PLI) – recorded the extreme event. The PLI is being tested by a JINR/CERN/ATLAS team to measure the movements of underground structures and detectors.   The Precision Laser Inclinometer during assembly. The instrument has proven very accurate when taking measurements of the movements of underground structures at CERN.    The Precision Laser Inclinometer is an extremely sensitive device capable of monitoring ground angular oscillations in a frequency range of 0.001-1 Hz with a precision of 10-10 rad/Hz1/2. The instrument is currently installed in one of the old ISR transfer tunnels (TT1) built in 1970. However, its final destination could be the ATLAS cavern, where it would measure and monitor the fine movements of the underground structures, which can affect the precise posi...

  10. Cannabis in movement disorders. (United States)

    Müller-Vahl, K R; Kolbe, H; Schneider, U; Emrich, H M


    Central cannabinoid receptors are densely located in the output nuclei of the basal ganglia (globus pallidus, substantia nigra pars reticulata), suggesting their involvement in the regulation of motor activity. Furthermore, there is evidence that endogenous cannabinoid transmission plays a role in the manipulation of other transmitter systems within the basal ganglia by increasing GABAergic transmission, inhibiting glutamate release and affecting dopaminergic uptake. Most hyperkinetic and hypokinetic movement disorders are caused by a dysfunction of basal ganglia-thalamo-cortical loops. It has been suggested that an endogenous cannabinoid tone participates in the control of movements and, therefore, the central cannabinoid system might play a role in the pathophysiology of these diseases. During the last years in humans a limited number of clinical trials demonstrated that cannabinoids might be useful in the treatment of movement disorders. Despite the lack of controlled studies there is evidence that cannabinoids are of therapeutic value in the treatment of tics in Tourette syndrome, the reduction of levodopa-induced dyskinesia in Parkinson s disease and some forms of tremor and dystonia. It can be speculated that cannabinoid antagonists might be useful in the treatment of chorea in Huntington s disease and hypokinetic parkinsonian syndromes.

  11. A Plain English Map of the Human Chromosomes. (United States)

    Offner, Susan


    Presents a chromosome map for 19 known chromosomes in human genetics. Describes the characteristics attributed to the genetic codes for each of the chromosomes and discusses the teaching applications of the chromosome map. (MDH)

  12. Familial transmission of a ring chromosome 21

    DEFF Research Database (Denmark)

    Hertz, Jens Michael


    A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented...... and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed....

  13. Female meiotic sex chromosome inactivation in chicken

    NARCIS (Netherlands)

    S. Schoenmakers (Sam); E. Wassenaar (Evelyne); J.W. Hoogerbrugge (Jos); J.S.E. Laven (Joop); J.A. Grootegoed (Anton); W.M. Baarends (Willy)


    textabstractDuring meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI) leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (Z

  14. Intragenomic distribution of RTE retroelements suggests intrachromosomal movement. (United States)

    Montiel, Eugenia E; Ruiz-Ruano, Francisco J; Cabrero, Josefa; Marchal, Juan Alberto; Sánchez, Antonio; Perfectti, Francisco; López-León, María Dolores; Camacho, Juan Pedro M


    Much is known about the abundance of transposable elements (TEs) in eukaryotic genomes, but much is still unknown on their behaviour within cells. We employ here a combination of cytological, molecular and genomic approaches providing information on the intragenomic distribution and behaviour of non-long terminal repeat (LTR) retrotransposon-like elements (RTE). We microdissected every chromosome in a single first meiotic metaphase cell of the grasshopper Eyprepocnemis plorans and polymerase chain reaction (PCR) amplified a fragment of the RTE reverse transcriptase gene with specific primers. PCR products were cloned and 139 clones were sequenced. Analysis of molecular variance (AMOVA) showed significant intragenomic structure for these elements, with 4.6 % of molecular variance being found between chromosomes. A maximum likelihood tree built with the RTE sequences revealed the frequent presence of two or more elements showing very high similarity and being located on the same chromosome, thus suggesting intrachromosome movement. The 454 pyrosequencing of genomic DNA gave strong support to the microdissection results and provided evidence for the existence of 5' truncated elements. Our results thus indicate a tendency of RTE elements to reinsert into the same chromosome from where they were transcribed, which could be achieved if retrotranscription and insertion takes place immediately after transcription.

  15. Segmenting Trajectories by Movement States

    NARCIS (Netherlands)

    Buchin, M.; Kruckenberg, H.; Kölzsch, A.; Timpf, S.; Laube, P.


    Dividing movement trajectories according to different movement states of animals has become a challenge in movement ecology, as well as in algorithm development. In this study, we revisit and extend a framework for trajectory segmentation based on spatio-temporal criteria for this purpose. We adapt

  16. The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary


    Wienberg, Johannes; Jauch, Anna; Lüdecke, H J; Senger, G.; Horsthemke, B; Claussen, U.; Cremer, Thomas; Arnold, N; Lengauer, Christoph


    Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will help to clarify phylogenetic relationships. We used a DNA library established by microdissection and microcloning from the entire long arm of human chromosome 2 for fluorescencein situ hybridization and comparative mapping of the chromosomes of ...

  17. Chromosomal instability in Streptomyces avermitilis: major deletion in the central region and stable circularized chromosome

    Directory of Open Access Journals (Sweden)

    Wen Ying


    Full Text Available Abstract Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as targets for rearrangements. Here we investigated chromosomal instability of Streptomyces avermitilis, an important producer of avermectins, and characterized four gross chromosomal rearrangement events, including a major deletion in the central region. The present findings provide a valuable contribution to the mechanistic study of genetic instability in Streptomyces. Results Thirty randomly-selected "bald" mutants derived from the wild-type strain all contained gross chromosomal rearrangements of various types. One of the bald mutants, SA1-8, had the same linear chromosomal structure as the high avermectin-producing mutant 76-9. Chromosomes of both strains displayed at least three independent chromosomal rearrangements, including chromosomal arm replacement to form new 88-kb terminal inverted repeats (TIRs, and two major deletions. One of the deletions eliminated the 36-kb central region of the chromosome, but surprisingly did not affect viability of the cells. The other deletion (74-kb was internal to the right chromosomal arm. The chromosome of another bald mutant, SA1-6, was circularized with deletions at both ends. No obvious homology was found in all fusion sequences. Generational stability analysis showed that the chromosomal structure of SA1-8 and SA1-6 was stable. Conclusions Various chromosomal rearrangements, including chromosomal arm replacement, interstitial deletions and chromosomal circularization, occurred in S. avermitilis by non-homologous recombination. The finding of an inner deletion involving in the central region of S. avermitilis chromosome suggests that the entire Streptomyces chromosome may be the target for rearrangements, which are not limited, as previously

  18. Y-chromosome polymorphism: Possible largest Y chromosome in man?

    Energy Technology Data Exchange (ETDEWEB)

    Murthy, D.S.K.; Al-Awadi, S.A.; Bastaki, L. [Kuwait Medical Genetics Centre, Sulaibikat (Kuwait)] [and others


    The role of variations (inversions/deletion or duplication) in the heterochromatin in gonadal development and function, reproductive fitness, and malignant disease has been extensively studied. However, the causal-relationship of large Y (Yqh+) and repeated fetal loss has not been established unequivocally. An Arab couple (?Bedouin origin) with a history of repeated abortions were investigated. Karyotype analysis of the husband showed a very large Y chromosome, confirmed by GTG-, QFQ- and CBG-banding techniques. C-banding showed discontinuous distribution of the heterochromatin blocks separated by pale bands. The origin of the large heterochromatin segment could be due to tandem duplication of the Yq region or translocation (Yq:Yq). No other relatives (males) of the propositus have been available for investigation. Polymorphism of the Y chromosome could be attributed to evolutionary changes from an ancestral type, either by deletion or duplication of the heterochromatin segment. More detailed studies on isolated, aboriginal/tribal human populations will enable us to better understand the significance of the Y chromosome polymorphism.

  19. The Chromosomes of Birds during Meiosis. (United States)

    Pigozzi, María I


    The cytological analysis of meiotic chromosomes is an exceptional tool to approach complex processes such as synapsis and recombination during the division. Chromosome studies of meiosis have been especially valuable in birds, where naturally occurring mutants or experimental knock-out animals are not available to fully investigate the basic mechanisms of major meiotic events. This review highlights the main contributions of synaptonemal complex and lampbrush chromosome research to the current knowledge of avian meiosis, with special emphasis on the organization of chromosomes during prophase I, the impact of chromosome rearrangements during meiosis, and distinctive features of the ZW pair.

  20. Polymer models of chromosome (re)organization (United States)

    Mirny, Leonid

    Chromosome Conformation Capture technique (Hi-C) provides comprehensive information about frequencies of spatial interactions between genomic loci. Inferring 3D organization of chromosomes from these data is a challenging biophysical problem. We develop a top-down approach to biophysical modeling of chromosomes. Starting with a minimal set of biologically motivated interactions we build ensembles of polymer conformations that can reproduce major features observed in Hi-C experiments. I will present our work on modeling organization of human metaphase and interphase chromosomes. Our works suggests that active processes of loop extrusion can be a universal mechanism responsible for formation of domains in interphase and chromosome compaction in metaphase.

  1. Chromosome painting of Z and W sex chromosomes in Characidium (Characiformes, Crenuchidae). (United States)

    Pazian, Marlon F; Shimabukuro-Dias, Cristiane Kioko; Pansonato-Alves, José Carlos; Oliveira, Claudio; Foresti, Fausto


    Some species of the genus Characidium have heteromorphic ZZ/ZW sex chromosomes with a totally heterochromatic W chromosome. Methods for chromosome microdissection associated with chromosome painting have become important tools for cytogenetic studies in Neotropical fish. In Characidium cf. fasciatum, the Z chromosome contains a pericentromeric heterochromatin block, whereas the W chromosome is completely heterochromatic. Therefore, a probe was produced from the W chromosome through microdissection and degenerate oligonucleotide-primed polymerase chain reaction amplification. FISH was performed using the W probe on the chromosomes of specimens of this species. This revealed expressive marks in the pericentromeric region of the Z chromosome as well as a completely painted W chromosome. When applying the same probe on chromosome preparations of C. cf. gomesi and Characidium sp., a pattern similar to C. cf. fasciatum was found, while C. cf. zebra, C. cf. lagosantense and Crenuchus spilurus species showed no hybridization signals. Structural changes in the chromosomes of an ancestral sexual system in the group that includes the species C. cf. gomesi, C. cf. fasciatum and Characidium sp., could have contributed to the process of speciation and could represent a causal mechanism of chromosomal diversification in this group. The heterochromatinization process possibly began in homomorphic and homologous chromosomes of an ancestral form, and this process could have given rise to the current patterns found in the species with sex chromosome heteromorphism.

  2. Pulsed flows at the high-altitude cusp poleward boundary, and associated ionospheric convection and particle signatures, during a Cluster - FAST - SuperDARN- Søndrestrøm conjunction under a southwest IMF

    Directory of Open Access Journals (Sweden)

    C. J. Farrugia


    Full Text Available Particle and magnetic field observations during a magnetic conjunction Cluster 1-FAST-Søndrestrøm within the field of view of SuperDARN radars on 21 January 2001 allow us to draw a detailed, comprehensive and self-consistent picture at three heights of signatures associated with transient reconnection under a steady south-westerly IMF (clock angle ≈130°. Cluster 1 was outbound through the high altitude (~12RE exterior northern cusp tailward of the bifurcation line (geomagnetic Bx>0 when a solar wind dynamic pressure release shifted the spacecraft into a boundary layer downstream of the cusp. The centerpiece of the investigation is a series of flow bursts observed there by the spacecraft, which were accompanied by strong field perturbations and tailward flow deflections. Analysis shows these to be Alfvén waves. We interpret these flow events as being due to a sequence of reconnected flux tubes, with field-aligned currents in the associated Alfvén waves carrying stresses to the underlying ionosphere, a view strengthened by the other observations. At the magnetic footprint of the region of Cluster flow bursts, FAST observed an ion energy-latitude disperison of the stepped cusp type, with individual cusp ion steps corresponding to individual flow bursts. Simultaneously, the SuperDARN Stokkseyri radar observed very strong poleward-moving radar auroral forms (PMRAFs which were conjugate to the flow bursts at Cluster. FAST was traversing these PMRAFs when it observed the cusp ion steps. The Søndrestrøm radar observed pulsed ionospheric flows (PIFs just poleward of the convection reversal boundary. As at Cluster, the flow was eastward (tailward, implying a coherent eastward (tailward motion of the hypothesized open flux tubes. The joint Søndrestrøm and FAST observations indicate that the open/closed field line boundary was equatorward of the convection reversal boundary by ~2°. The unprecedented accuracy

  3. Modelling group dynamic animal movement

    DEFF Research Database (Denmark)

    Langrock, Roland; Hopcraft, J. Grant C.; Blackwell, Paul G.;


    Group dynamic movement is a fundamental aspect of many species' movements. The need to adequately model individuals' interactions with other group members has been recognised, particularly in order to differentiate the role of social forces in individual movement from environmental factors. However...... makes its movement decisions relative to the group centroid. The basic idea is framed within the flexible class of hidden Markov models, extending previous work on modelling animal movement by means of multi-state random walks. While in simulation experiments parameter estimators exhibit some bias...

  4. Chromosomal patterns in human malignant astrocytomas. (United States)

    Rey, J A; Bello, M J; de Campos, J M; Kusak, M E; Ramos, C; Benitez, J


    Cytogenetic analysis by direct and/or in vitro preparations was performed on 34 malignant astrocytomas. Thirty tumors showed near-diploid chromosome numbers, whereas, tritetraploid chromosome complements were present in four tumors. The most frequent chromosomal changes implied numerical deviations by a gain of chromosomes #7, #19, and #20, and by losses of #10, #22, and Y. Structural rearrangements were present in stem- or side lines of 24 tumors. Although no common chromosomal rearrangement seems to exist among those tumors, chromosomes #1, #6, #7, and #9 were predominantly involved. Polysomy and structural rearrangements of chromosome #7 could be related to the overexpression of epidermal growth factor gene, previously observed in some malignant gliomas.

  5. Flow cytometric detection of aberrant chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Yu, L.C.; Langlois, R.


    This report describes the quantification of chromosomal aberrations by flow cytometry. Both homogeneously and heterogeneously occurring chromosome aberrations were studied. Homogeneously occurring aberrations were noted in chromosomes isolated from human colon carcinoma (LoVo) cells, stained with Hoechst 33258 and chromomycin A3 and analyzed using dual beam flow cytometry. The resulting bivariate flow karyotype showed a homogeneously occurring marker chromosome of intermediate size. Heterogeneously occurring aberrations were quantified by slit-scan flow cytometry in chromosomes isolated from control and irradiated Chinese hamster cells and stained with propidium iodide. Heterogeneously occurring dicentric chromosomes were detected by their shapes (two centrometers). The frequencies of such chromosomes estimated by slit-scan flow cytometry correlated well with the frequencies determined by visual microscopy.

  6. Chromosome X aneuploidy in Brazilian schizophrenic patients. (United States)

    de Moraes, Leopoldo Silva; Khayat, André Salim; de Lima, Patrícia Danielle Lima; Lima, Eleonidas Moura; Pinto, Giovanny Rebouças; Leal, Mariana Ferreira; de Arruda Cardoso Smith, Marília; Burbano, Rommel Rodríguez


    The identification of cytogenetic abnormalities in schizophrenic patients may provide clues to the genes involved in this disease. For this reason, a chromosomal analysis of samples from 62 schizophrenics and 70 controls was performed with trypsin-Giemsa banding and fluorescence in situ hybridization of the X chromosome. A clonal pericentric inversion on chromosome 9 was detected in one male patient, and we also discovered mosaicism associated with X chromosome aneuploidy in female patients, primarily detected in schizophrenic and normal female controls over 40 years old. When compared with age-matched female controls, the frequency of X chromosome loss was not significantly different between schizophrenics and controls, except for the 40- to 49-year-old age group. Our findings suggest that the X chromosome loss seen in schizophrenic patients is inherent to the normal cellular aging process. However, our data also suggest that X chromosome gain may be correlated with schizophrenia in this Brazilian population.

  7. Chromosomal instability determines taxane response

    DEFF Research Database (Denmark)

    Swanton, C.; Nicke, B.; Schuett, M.;


    -positive breast cancer and occurs frequently in basal-like and Her2-positive cases. In diploid cells, but not in chromosomally unstable cells, paclitaxel causes repression of CIN-survival genes, followed by cell death. In the OV01 ovarian cancer clinical trial, a high level of CIN was associated with taxane...... chromosomal instability (CIN). Silencing 22/50 of these genes, many of which are involved in DNA repair, caused cancer cell death, suggesting that these genes are involved in the survival of aneuploid cells. Overexpression of these "CIN-survival'' genes is associated with poor outcome in estrogen receptor...... resistance but carboplatin sensitivity, indicating that CIN may determine MTS response in vivo. Thus, pretherapeutic assessment of CIN may optimize treatment stratification and clinical trial design using these agents....

  8. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium (United States)

    The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

  9. Energy and Movement

    CERN Document Server

    90, Sol


    Updated for 2011, Energy and Movement, is one book in the Britannica Illustrated Science Library Series that covers today's most popular science topics, from digital TV to microchips to touchscreens and beyond. Perennial subjects in earth science, life science, and physical science are all explored in detail. Amazing graphics-more than 1,000 per title-combined with concise summaries help students understand complex subjects. Correlated to the science curriculum in grades 5-9, each title also contains a glossary with full definitions for vocabulary.

  10. Knowledge through movement

    DEFF Research Database (Denmark)

    Jensen, Søren Kjær; Moser, T.


    In: Children and adolescents in movement - perspectives and ideas. The Danish Ministry of Culture, pages 150 - 162. 2003 Short description: the article debunks a lot of the myths surrounding body and learning, and replace them with a vision about another kind of learning. The aim is to reintroduc....... The current focus on the head and lack of attention to the body unifies society to focus on cognitive learning. This has implications for the values created by this system. Learning Lab Denmark aims to examine new ways of reintroducing the body into learning....

  11. Stereotypic movement disorders. (United States)

    Singer, Harvey S


    Stereotypic movements are repetitive, rhythmic, fixed, patterned in form, amplitude, and localization, but purposeless (e.g., hand shaking, waving, body rocking, head nodding). They are commonly seen in children; both in normal children (primary stereotypy) and in individuals with additional behavioral or neurological signs and symptoms (secondary stereotypy). They should be differentiated from compulsions (OCD), tics (tic disorders), trichotillomania, skin picking disorder, or the direct physiological effect of a substance. There is increasing evidence to support a neurobiological mechanism. Response to behavioral and pharmacological therapies is variable.

  12. Rooted in Movement

    DEFF Research Database (Denmark)

    The result of the synergy between four doctoral projects and an advanced MA-level course on Bronze Age Europe, this integrated assemblage of articles represents a variety of different subjects united by a single theme: movement. Ranging from theoretical discussion of the various responses...... to and reactions from the circulation of people, objects and ideas to the transmission of the spiral and the ‚trade’ in crafting expertise, this volume takes a fresh look at old questions. Each article within this monograph represents a different approach to mobility framed within a highly mobile and dynamic...

  13. Tracking the Poster Movement

    DEFF Research Database (Denmark)

    Christensen, Line Hjorth


    commercial and graphic design of various kinds of which British and Foreign Posters offers a particularly rich example. The exhibition attracted commercial, artistic and curatorial forces substantiating the idea of a movement, and approached commercial art from a perspective that raised new awareness towards...... graphic material in urban and museum space alike. To clarify the curatorial approach the analysis draws on a theoretical scheme of ecological semiotics, the concept of counterability and contextualising displays, which I name poster milieux: the 1931 case demonstrates how contemporary commercial art...

  14. Bacterial Chromosome Organization and Segregation


    Toro, Esteban; Shapiro, Lucy


    Bacterial chromosomes are generally ∼1000 times longer than the cells in which they reside, and concurrent replication, segregation, and transcription/translation of this crowded mass of DNA poses a challenging organizational problem. Recent advances in cell-imaging technology with subdiffraction resolution have revealed that the bacterial nucleoid is reliably oriented and highly organized within the cell. Such organization is transmitted from one generation to the next by progressive segrega...

  15. Environmental pollution, chromosomes, and health (United States)

    Bell, Peter M.

    In mid-May, 1980, President Carter declared a state of emergency at the Love Canal area, near Niagara Falls, New York. The reason for this was for the U.S. to underwrite the relocation costs ($3-5 million) of some 2500 residents who, according to a report by the EPA (Environmental Protection Agency) may have suffered damaged chromosomes. These injuries were apparently caused by contact with toxic wastes that had been dumped in the area in the years prior to development for housing.That the toxic compounds exist in the Love Canal and Niagara Falls subsurface zones, including public water supplies, appears to be established fact. That the residents of the Love Canal area suffered chromosomal damage may be established fact as well. Whether or not these two findings can be linked to ill health of the residents is another matter. Recently, the EPA report has been described as having ‘close to zero scientific significance,’ and has been ‘discredited’(Science, 208, 123a, 1980). The reasons for this disparity go beyond differences of opinion, beyond possible inadequacies of the EPA study, and even beyond problems that probably will arise from future studies, including those now in the planning stages. The problem is that even if victims have easily recognizable injuries from toxic substances (injury that apparently has not occurred to Love Canal residents), medical science usually cannot show a causal relationship. Even chromosomal damage is, at best, difficult to interpret. In ideal studies of significant populations and control groups, the association of toxic chemical to chromosome damage and to cancer and birth defects is indirect and, up to now, has been shown to have little or no significance to an individual member of the exposed population.

  16. Movement disorders in cerebrovascular disease. (United States)

    Mehanna, Raja; Jankovic, Joseph


    Movement disorders can occur as primary (idiopathic) or genetic disease, as a manifestation of an underlying neurodegenerative disorder, or secondary to a wide range of neurological or systemic diseases. Cerebrovascular diseases represent up to 22% of secondary movement disorders, and involuntary movements develop after 1-4% of strokes. Post-stroke movement disorders can manifest in parkinsonism or a wide range of hyperkinetic movement disorders including chorea, ballism, athetosis, dystonia, tremor, myoclonus, stereotypies, and akathisia. Some of these disorders occur immediately after acute stroke, whereas others can develop later, and yet others represent delayed-onset progressive movement disorders. These movement disorders have been encountered in patients with ischaemic and haemorrhagic strokes, subarachnoid haemorrhage, cerebrovascular malformations, and dural arteriovenous fistula affecting the basal ganglia, their connections, or both.

  17. [Movement disorders is psychiatric diseases]. (United States)

    Hidasi, Zoltan; Salacz, Pal; Csibri, Eva


    Movement disorders are common in psychiatry. The movement disorder can either be the symptom of a psychiatric disorder, can share a common aetiological factor with it, or can be the consequence of psychopharmacological therapy. Most common features include tic, stereotypy, compulsion, akathisia, dyskinesias, tremor, hypokinesia and disturbances of posture and gait. We discuss characteristics and clinical importance of these features. Movement disorders are frequently present in mood disorders, anxiety disorders, schizophrenia, catatonia, Tourette-disorder and psychogenic movement disorder, leading to differential-diagnostic and therapeutical difficulties in everyday practice. Movement disorders due to psychopharmacotherapy can be classified as early-onset, late-onset and tardive. Frequent psychiatric comorbidity is found in primary movement disorders, such as Parkinson's disease, Wilson's disease, Huntington's disease, diffuse Lewy-body disorder. Complex neuropsychiatric approach is effective concerning overlapping clinical features and spectrums of disorders in terms of movement disorders and psychiatric diseases.

  18. GSK-3 inhibitors induce chromosome instability

    Directory of Open Access Journals (Sweden)

    Staples Oliver D


    Full Text Available Abstract Background Several mechanisms operate during mitosis to ensure accurate chromosome segregation. However, during tumour evolution these mechanisms go awry resulting in chromosome instability. While several lines of evidence suggest that mutations in adenomatous polyposis coli (APC may promote chromosome instability, at least in colon cancer, the underlying mechanisms remain unclear. Here, we turn our attention to GSK-3 – a protein kinase, which in concert with APC, targets β-catenin for proteolysis – and ask whether GSK-3 is required for accurate chromosome segregation. Results To probe the role of GSK-3 in mitosis, we inhibited GSK-3 kinase activity in cells using a panel of small molecule inhibitors, including SB-415286, AR-A014418, 1-Azakenpaullone and CHIR99021. Analysis of synchronised HeLa cells shows that GSK-3 inhibitors do not prevent G1/S progression or cell division. They do, however, significantly delay mitotic exit, largely because inhibitor-treated cells have difficulty aligning all their chromosomes. Although bipolar spindles form and the majority of chromosomes biorient, one or more chromosomes often remain mono-oriented near the spindle poles. Despite a prolonged mitotic delay, anaphase frequently initiates without the last chromosome aligning, resulting in chromosome non-disjunction. To rule out the possibility of "off-target" effects, we also used RNA interference to selectively repress GSK-3β. Cells deficient for GSK-3β exhibit a similar chromosome alignment defect, with chromosomes clustered near the spindle poles. GSK-3β repression also results in cells accumulating micronuclei, a hallmark of chromosome missegregation. Conclusion Thus, not only do our observations indicate a role for GSK-3 in accurate chromosome segregation, but they also raise the possibility that, if used as therapeutic agents, GSK-3 inhibitors may induce unwanted side effects by inducing chromosome instability.

  19. Chromosome aberration assays in Allium

    Energy Technology Data Exchange (ETDEWEB)

    Grant, W.F.


    The common onion (Allium cepa) is an excellent plant for the assay of chromosome aberrations after chemical treatment. Other species of Allium (A. cepa var. proliferum, A. carinatum, A. fistulosum and A. sativum) have also been used but to a much lesser extent. Protocols have been given for using root tips from either bulbs or seeds of Allium cepa to study the cytological end-points, such as chromosome breaks and exchanges, which follow the testing of chemicals in somatic cells. It is considered that both mitotic and meiotic end-points should be used to a greater extent in assaying the cytogenetic effects of a chemical. From a literature survey, 148 chemicals are tabulated that have been assayed in 164 Allium tests for their clastogenic effect. Of the 164 assays which have been carried out, 75 are reported as giving a positive reaction, 49 positive and with a dose response, 1 positive and temperature-related, 9 borderline positive, and 30 negative; 76% of the chemicals gave a definite positive response. It is proposed that the Allium test be included among those tests routinely used for assessing chromosomal damage induced by chemicals.

  20. Movement disorders in childhood. (United States)

    Cardoso, Francisco


    The aim of this article is to review movement disorders in children. They are common but have etiology and phenomenology different than in adults. Tics are the most common phenomena although in most instances they are mild and have a favorable long-term prognosis. Dystonia is the second most common phenomena but when present it is usually genetic or idiopathic and causes meaningful disability. Sydenham's chorea is the most common cause of chorea in children worldwide. Systemic lupus erythematosus is a much rarer cause of chorea but it is always to be ruled out given the lack of a specific diagnostic marker for Sydenham's chorea. Tremor, usually caused by drugs or essential tremor, is regarded as rather uncommon in children. Arguably, most pediatric patients with tremor do not seek medical attention because of the lack of disability. Stereotypies are relatively uncommon but their recognition is clinically relevant since they are usually associated with severe conditions such as autism and Rett syndrome. Parkinsonism is quite rare in children and either results from encephalitis or is a side effect of medications. Wilson's disease must be ruled out in all children with movement disorders.

  1. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

    Directory of Open Access Journals (Sweden)

    Sebastian Pita


    Full Text Available In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae. The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome or both sex chromosomes (X and Y chromosomes. This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences.

  2. Whole chromosome painting of B chromosomes of the red-eye tetra Moenkhausia sanctaefilomenae (Teleostei, Characidae). (United States)

    Scudeler, Patricia Elda Sobrinho; Diniz, Débora; Wasko, Adriane Pinto; Oliveira, Claudio; Foresti, Fausto


    B chromosomes are dispensable genomic elements found in different groups of animals and plants. In the present study, a whole chromosome probe was generated from a specific heterochromatic B chromosome occurring in cells of the characidae fish Moenkhausia sanctaefilomenae (Steindachner, 1907). The chromosome painting probes were used in fluorescence in situ hybridization (FISH) experiments for the assessment of metaphase chromosomes obtained from individuals from three populations of Moenkhausia sanctaefilomenae. The results revealed that DNA sequences were shared between a specific B chromosome and many chromosomes of the A complement in all populations analyzed, suggesting a possible intra-specific origin of these B chromosomes. However, no hybridization signals were observed in other B chromosomes found in the same individuals, implying a possible independent origin of B chromosome variants in this species. FISH experiments using 18S rDNA probes revealed the presence of non-active ribosomal genes in some B chromosomes and in some chromosomes of the A complement, suggesting that at least two types of B chromosomes had an independent origin. The role of heterochromatic segments and ribosomal sequences in the origin of B chromosomes were discussed.

  3. Genetics Home Reference: congenital mirror movement disorder (United States)

    ... Health Conditions congenital mirror movement disorder congenital mirror movement disorder Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital mirror movement disorder is a condition in which intentional movements of ...

  4. Chromosome aberrations induced by zebularine in triticale. (United States)

    Ma, Xuhui; Wang, Qing; Wang, Yanzhi; Ma, Jieyun; Wu, Nan; Ni, Shuang; Luo, Tengxiao; Zhuang, Lifang; Chu, Chenggen; Cho, Seong-Woo; Tsujimoto, Hisashi; Qi, Zengjun


    Chromosome engineering is an important approach for generating wheat germplasm. Efficient development of chromosome aberrations will facilitate the introgression and application of alien genes in wheat. In this study, zebularine, a DNA methylation transferase inhibitor, was successfully used to induce chromosome aberrations in the octoploid triticale cultivar Jinghui#1. Dry seeds were soaked in zebularine solutions (250, 500, and 750 μmol/L) for 24 h, and the 500 μmol/L treatment was tested in three additional treatment times, i.e., 12, 36, and 48 h. All treatments induced aberrations involving wheat and rye chromosomes. Of the 920 cells observed in 67 M1 plants, 340 (37.0%) carried 817 aberrations with an average of 0.89 aberrations per cell (range: 0-12). The aberrations included probable deletions, telosomes and acentric fragments (49.0%), large segmental translocations (28.9%), small segmental translocations (17.1%), intercalary translocations (2.6%), long chromosomes that could carry more than one centromere (2.0%), and ring chromosomes (0.5%). Of 510 M2 plants analyzed, 110 (21.6%) were found to carry stable aberrations. Such aberrations included 79 with varied rye chromosome numbers, 7 with wheat and rye chromosome translocations, 15 with possible rye telosomes/deletions, and 9 with complex aberrations involving variation in rye chromosome number and wheat-rye translocations. These indicated that aberrations induced by zebularine can be steadily transmitted, suggesting that zebularine is a new efficient agent for chromosome manipulation.

  5. The importance of having two X chromosomes. (United States)

    Arnold, Arthur P; Reue, Karen; Eghbali, Mansoureh; Vilain, Eric; Chen, Xuqi; Ghahramani, Negar; Itoh, Yuichiro; Li, Jingyuan; Link, Jenny C; Ngun, Tuck; Williams-Burris, Shayna M


    Historically, it was thought that the number of X chromosomes plays little role in causing sex differences in traits. Recently, selected mouse models have been used increasingly to compare mice with the same type of gonad but with one versus two copies of the X chromosome. Study of these models demonstrates that mice with one X chromosome can be strikingly different from those with two X chromosomes, when the differences are not attributable to confounding group differences in gonadal hormones. The number of X chromosomes affects adiposity and metabolic disease, cardiovascular ischaemia/reperfusion injury and behaviour. The effects of X chromosome number are likely the result of inherent differences in expression of X genes that escape inactivation, and are therefore expressed from both X chromosomes in XX mice, resulting in a higher level of expression when two X chromosomes are present. The effects of X chromosome number contribute to sex differences in disease phenotypes, and may explain some features of X chromosome aneuploidies such as in Turner and Klinefelter syndromes.

  6. Chromosome analysis of arsenic affected cattle

    Directory of Open Access Journals (Sweden)

    S. Shekhar


    Full Text Available Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal were selected for cytogenetical study. The blood samples were collected, incubated, and cultured using appropriate media and specific methods. The samples were analyzed for chromosome number and morphology, relative length of the chromosome, arm ratio, and centromere index of X chromosome and chromosomal abnormalities in arsenic affected cattle to that of normal ones. Results: The diploid number of metaphase chromosomes in arsenic affected cattle as well as in normal cattle were all 2n=60, 58 being autosomes and 2 being sex chromosomes. From the centromeric position, karyotyping studies revealed that all the 29 pair of autosomes was found to be acrocentric or telocentric, and the sex chromosomes (XX were submetacentric in both normal and arsenic affected cattle. The relative length of all the autosome pairs and sex chrosomosome pair was found to be higher in normal than that of arsenic affected cattle. The mean arm ratio of X-chromosome was higher in normal than that of arsenic affected cattle, but it is reverse in case of centromere index value of X-chromosome. There was no significant difference of arm ratio and centromere index of X-chromosomes between arsenic affected and normal cattle. No chromosomal abnormalities were found in arsenic affected cattle. Conclusion: The chromosome analysis of arsenic affected cattle in West Bengal reported for the first time in this present study which may serve as a guideline for future studies in other species. These reference values will also help in comparison of cytological studies of arsenic affected cattle to that of various toxicants.

  7. IS-linked movement of a restriction-modification system.

    Directory of Open Access Journals (Sweden)

    Noriko Takahashi

    Full Text Available Potential mobility of restriction-modification systems has been suggested by evolutionary/bioinformatic analysis of prokaryotic genomes. Here we demonstrate in vivo movement of a restriction-modification system within a genome under a laboratory condition. After blocking replication of a temperature-sensitive plasmid carrying a PaeR7I restriction-modification system in Escherichia coli cells, the plasmid was found integrated into the chromosome of the surviving cells. Sequence analysis revealed that, in the majority of products, the restriction-modification system was linked to chromosomal insertion sequences (ISs. Three types of products were: (I apparent co-integration of the plasmid and the chromosome at a chromosomal IS1 or IS5 copy (24/28 analyzed; (II de novo insertion of IS1 with the entire plasmid except for a 1-3 bp terminal deletion (2/28; and (III reciprocal crossing-over between the plasmid and the chromosome involving 1-3 bp of sequence identity (2/28. An R-negative mutation apparently decreased the efficiency of successful integration by two orders of magnitude. Reconstruction experiments demonstrated that the restriction-dependence was mainly due to selection against cells without proper integration: their growth was inhibited by the restriction enzyme action. These results demonstrate collaboration of a mobile element and a restriction-modification system for successful joint migration. This collaboration may have promoted the spread and, therefore, the long-term persistence of these complexes and restriction-modification systems in a wide range of prokaryotes.

  8. Mirror movements in progressive hemifacial atrophy



    Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror mov...

  9. The Matter of Movement

    DEFF Research Database (Denmark)

    Ayres, Phil


    This contribution concerns itself with the design and realisation of architectures that operate with material dynamics. It presents this concern as a counter to the consideration of movement in architecture as something conceptualised from the position of the observer. The contribution draws upon...... research from the Centre for Information Technology and Architecture (CITA) which has recently focused upon the investigation of materially active systems ranging from textile logics at architectural scale to bending active structures in both natural and synthetic fibre-based composites....... These investigations have necessitated the development of synergetic relations between new conceptualisations, new methods of designing, new representational tools, and new material systems. This essay examines these issues through two inter-related research projects developed at CITA as part of a broader inquiry...

  10. Deciphering evolutionary strata on plant sex chromosomes and fungal mating-type chromosomes through compositional segmentation. (United States)

    Pandey, Ravi S; Azad, Rajeev K


    Sex chromosomes have evolved from a pair of homologous autosomes which differentiated into sex determination systems, such as XY or ZW system, as a consequence of successive recombination suppression between the gametologous chromosomes. Identifying the regions of recombination suppression, namely, the "evolutionary strata", is central to understanding the history and dynamics of sex chromosome evolution. Evolution of sex chromosomes as a consequence of serial recombination suppressions is well-studied for mammals and birds, but not for plants, although 48 dioecious plants have already been reported. Only two plants Silene latifolia and papaya have been studied until now for the presence of evolutionary strata on their X chromosomes, made possible by the sequencing of sex-linked genes on both the X and Y chromosomes, which is a requirement of all current methods that determine stratum structure based on the comparison of gametologous sex chromosomes. To circumvent this limitation and detect strata even if only the sequence of sex chromosome in the homogametic sex (i.e. X or Z chromosome) is available, we have developed an integrated segmentation and clustering method. In application to gene sequences on the papaya X chromosome and protein-coding sequences on the S. latifolia X chromosome, our method could decipher all known evolutionary strata, as reported by previous studies. Our method, after validating on known strata on the papaya and S. latifolia X chromosome, was applied to the chromosome 19 of Populus trichocarpa, an incipient sex chromosome, deciphering two, yet unknown, evolutionary strata. In addition, we applied this approach to the recently sequenced sex chromosome V of the brown alga Ectocarpus sp. that has a haploid sex determination system (UV system) recovering the sex determining and pseudoautosomal regions, and then to the mating-type chromosomes of an anther-smut fungus Microbotryum lychnidis-dioicae predicting five strata in the non

  11. Scaling Chromosomes for an Evolutionary Karyotype: A Chromosomal Tradeoff between Size and Number across Woody Species. (United States)

    Liang, Guolu; Chen, Hong


    This study aims to examine the expected scaling relationships between chromosome size and number across woody species and to clarify the importance of the scaling for the maintenance of chromosome diversity by analyzing the scaling at the inter- & intra-chromosomal level. To achieve for the goals, chromosome trait data were extracted for 191 woody species (including 56 evergreen species and 135 deciduous species) from the available literature. Cross-species analyses revealed a tradeoff among chromosomes between chromosome size and number, demonstrating there is selective mechanism crossing chromosomes among woody species. And the explanations for the result were presented from intra- to inter-chromosome contexts that the scaling may be compromises among scale symmetry, mechanical requirements, and resource allocation across chromosomes. Therein, a 3/4 scaling pattern was observed between total chromosomes and m-chromosomes within nucleus which may imply total chromosomes may evolve from more to less. In addition, the primary evolutionary trend of karyotype and the role of m-chromosomes in the process of karyotype evolution were also discussed.

  12. Microdissection and chromosome painting of X and B chromosomes in Locusta migratoria. (United States)

    Teruel, María; Cabrero, Josefa; Montiel, Eugenia E; Acosta, Manuel J; Sánchez, Antonio; Camacho, Juan Pedro M


    Acquisition of knowledge of the nature and DNA content of B chromosomes has been triggered by a collection of molecular techniques, one of which, microdissection, has provided interesting results in a number of B chromosome systems. Here we provide the first data on the molecular composition of B chromosomes in Locusta migratoria, after microdissection of the B and X chromosomes, DNA amplification by one (B) or two (X) different methods, and chromosome painting. The results showed that B chromosomes share at least two types of repetitive DNA sequences with the A chromosomes, suggesting that Bs in this species most likely arose intraspecifically. One of these repetitive DNAs is located on the heterochromatic distal half of the B chromosome and in the pericentromeric regions of about half of the A chromosomes, including the X. The other type of repetitive DNA is located interspersedly over the non-centromeric euchromatic regions of all A chromosomes and in an interstitial part of the proximal euchromatic half of the B chromosome. Chromosome painting, however, did not provide results sufficiently reliable to determine, in this species, which A chromosome gave rise to the B; this might be done by detailed analysis of the microdissected DNA sequences.

  13. Chromosome-specific segmentation revealed by structural analysis of individually isolated chromosomes. (United States)

    Kitada, Kunio; Taima, Akira; Ogasawara, Kiyomoto; Metsugi, Shouichi; Aikawa, Satoko


    Analysis of structural rearrangements at the individual chromosomal level is still technologically challenging. Here we optimized a chromosome isolation method using fluorescent marker-assisted laser-capture and laser-beam microdissection and applied it to structural analysis of two aberrant chromosomes found in a lung cancer cell line. A high-density array-comparative genomic hybridization (array-CGH) analysis of DNA samples prepared from each of the chromosomes revealed that these two chromosomes contained 296 and 263 segments, respectively, ranging from 1.5 kb to 784.3 kb in size, derived from different portions of chromosome 8. Among these segments, 242 were common in both aberrant chromosomes, but 75 were found to be chromosome-specific. Sequences of 263 junction sites connecting the ends of segments were determined using a PCR/Sanger-sequencing procedure. Overlapping microhomologies were found at 169 junction sites. Junction partners came from various portions of chromosome 8 and no biased pattern in the positional distribution of junction partners was detected. These structural characteristics suggested the occurrence of random fragmentation of the entire chromosome 8 followed by random rejoining of these fragments. Based on that, we proposed a model to explain how these aberrant chromosomes are formed. Through these structural analyses, it was demonstrated that the optimized chromosome isolation method described here can provide high-quality chromosomal DNA for high resolution array-CGH analysis and probably for massively parallel sequencing analysis.

  14. Building bridges within the bacterial chromosome. (United States)

    Song, Dan; Loparo, Joseph J


    All organisms must dramatically compact their genomes to accommodate DNA within the cell. Bacteria use a set of DNA-binding proteins with low sequence specificity called nucleoid-associated proteins (NAPs) to assist in chromosome condensation and organization. By bending or bridging DNA, NAPs also facilitate chromosome segregation and regulate gene expression. Over the past decade, emerging single-molecule and chromosome conformation capture techniques have investigated the molecular mechanisms by which NAPs remodel and organize the bacterial chromosome. In this review we describe how such approaches reveal the biochemical mechanisms of three NAPs that are believed to facilitate DNA bridging: histone-like nucleoid structuring protein (H-NS), ParB, and structural maintenance of chromosomes (SMC). These three proteins form qualitatively different DNA bridges, leading to varied effects on transcription and chromosome segregation.

  15. Sexual maldevelopment and sex reversal, chromosomal causes. (United States)

    Magenis, R Ellen


    The SRY gene on the Y chromosome is the testis determining factor (TDF). It is therefore the initial male determining factor. However, phenotypic sex determination includes a cascade of genes located on autosomes as well as sex chromosomes. Aberrations of these genes may cause sexual maldevelopment or sex reversal. Abnormalities may include single gene mutations and gene loss or gain-changes may involve only sex organs or may be part of syndromes. These changes may also arise as chromosome abnormalities involving contiguous genes. Eight cases with chromosomal abnormalities involving different causative mechanisms are described herein. The most common cause is nondisjunction, including loss or gain of sex chromosomes. Less common causes are mispairing and crossing over in meiosis, chromosome breaks with repair, nonhomologous pairing due to low copy repeats and crossing over, and translocation (familial or de novo) with segregation. Cases include: [see: text].

  16. Physiology of psychogenic movement disorders. (United States)

    Hallett, Mark


    Psychogenic movement disorders (PMDs) are common, but their physiology is largely unknown. In most situations, the movement is involuntary, but in a minority, when the disorder is malingering or factitious, the patient is lying and the movement is voluntary. Physiologically, we cannot tell the difference between voluntary and involuntary. The Bereitschaftspotential (BP) is indicative of certain brain mechanisms for generating movement, and is seen with ordinarily voluntary movements, but by itself does not indicate that a movement is voluntary. There are good clinical neurophysiological methods available to determine whether myoclonus or tremor is a PMD. For example, psychogenic myoclonus generally has a BP, and psychogenic stimulus-sensitive myoclonus has a variable latency with times similar to normal reaction times. Psychogenic tremor will have variable frequency over time, be synchronous in the two arms, and might well be entrained with voluntary rhythmic movements. These facts suggest that PMDs share voluntary mechanisms for movement production. There are no definitive tests to differentiate psychogenic dystonia from organic dystonia, although one has been recently reported. Similar physiological abnormalities are seen in both groups. The question arises as to how a movement can be produced with voluntary mechanisms, but not be considered voluntary.

  17. Chromosomal rearrangements in Tourette syndrome

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Debes, Nanette Mol; Hjermind, Lena E


    Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown......, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has...

  18. Meiosis I: When Chromosomes Undergo Extreme Makeover


    Miller, Matthew P; Amon, Angelika; Ünal, Elçin


    The ultimate success of cell division relies on the accurate partitioning of the genetic material. Errors in this process occur in nearly all tumors and are the leading cause of miscarriages and congenital birth defects in humans. Two cell divisions, mitosis and meiosis, use common as well as unique mechanisms to ensure faithful chromosome segregation. In mitosis, alternating rounds of DNA replication and chromosome segregation preserves the chromosome complement of the progenitor cell. In co...

  19. Movement Matters: Observing the Benefits of Movement Practice (United States)

    Fuchs, Melani Alexander


    Montessori's first premise is that movement and cognition are closely entwined, and movement can enhance thinking and learning (Lillard, 2005). Children must move, and practice moving, to develop strength, balance, and the stability needed to fully participate in the rigors of daily life. It is imperative for young children's motor…

  20. Genome architecture: domain organization of interphase chromosomes. (United States)

    Bickmore, Wendy A; van Steensel, Bas


    The architecture of interphase chromosomes is important for the regulation of gene expression and genome maintenance. Chromosomes are linearly segmented into hundreds of domains with different protein compositions. Furthermore, the spatial organization of chromosomes is nonrandom and is characterized by many local and long-range contacts among genes and other sequence elements. A variety of genome-wide mapping techniques have made it possible to chart these properties at high resolution. Combined with microscopy and computational modeling, the results begin to yield a more coherent picture that integrates linear and three-dimensional (3D) views of chromosome organization in relation to gene regulation and other nuclear functions.

  1. Cognitive and medical features of chromosomal aneuploidy. (United States)

    Hutaff-Lee, Christa; Cordeiro, Lisa; Tartaglia, Nicole


    This chapter describes the physical characteristics, medical complications, and cognitive and psychological profiles that are associated with chromosomal aneuploidy conditions, a group of conditions in which individuals are born with one or more additional chromosome. Overall, chromosomal aneuploidy conditions occur in approximately 1 in 250 children. Information regarding autosomal disorders including trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), and trisomy 18 (Edward syndrome) are presented. Sex chromosome aneuploidy conditions such as Klinefelter syndrome (47,XXY), XYY, trisomy X, and Turner syndrome (45,X), in addition to less frequently occurring tetrasomy and pentasomy conditions are also covered. Treatment recommendations and suggestions for future research directions are discussed.

  2. Research on automatic human chromosome image analysis (United States)

    Ming, Delie; Tian, Jinwen; Liu, Jian


    Human chromosome karyotyping is one of the essential tasks in cytogenetics, especially in genetic syndrome diagnoses. In this thesis, an automatic procedure is introduced for human chromosome image analysis. According to different status of touching and overlapping chromosomes, several segmentation methods are proposed to achieve the best results. Medial axis is extracted by the middle point algorithm. Chromosome band is enhanced by the algorithm based on multiscale B-spline wavelets, extracted by average gray profile, gradient profile and shape profile, and calculated by the WDD (Weighted Density Distribution) descriptors. The multilayer classifier is used in classification. Experiment results demonstrate that the algorithms perform well.

  3. Meiotic chromosome abnormalities in human spermatogenesis. (United States)

    Martin, Renée H


    The last few years have witnessed an explosion in the information about chromosome abnormalities in human sperm and the meiotic events that predispose to these abnormalities. We have determined that all chromosomes are susceptible to nondisjunction, but chromosomes 21 and 22 and, especially, the sex chromosomes have an increased frequency of aneuploidy. Studies are just beginning on the effects of potential mutagens on the chromosomal constitution of human sperm. The effects of pesticides and cancer therapeutic agents have been reviewed. In the last decade, there has been a great impetus to study chromosome abnormalities in sperm from infertile men because the advent of intracytoplasmic sperm injection (ICSI) made it possible for these men to father pregnancies. A large number of studies have demonstrated that infertile men have an increased frequency of chromosomally abnormal sperm and children, even when they have a normal somatic karyotype. Meiotic studies on the pachytene stage of spermatogenesis have demonstrated that infertile men have impaired chromosome synapsis, a significantly decreased frequency of recombination, and an increased frequency of chromosomes completely lacking a recombination site. Such errors make these cells susceptible to meiotic arrest and the production of aneuploid gametes.

  4. Cdk1 phosphorylation of the kinetochore protein Nsk1 prevents error-prone chromosome segregation. (United States)

    Chen, Jun-Song; Lu, Lucy X; Ohi, Melanie D; Creamer, Kevin M; English, Chauca; Partridge, Janet F; Ohi, Ryoma; Gould, Kathleen L


    Cdk1 controls many aspects of mitotic chromosome behavior and spindle microtubule (MT) dynamics to ensure accurate chromosome segregation. In this paper, we characterize a new kinetochore substrate of fission yeast Cdk1, Nsk1, which promotes proper kinetochore-MT (k-MT) interactions and chromosome movements in a phosphoregulated manner. Cdk1 phosphorylation of Nsk1 antagonizes Nsk1 kinetochore and spindle localization during early mitosis. A nonphosphorylatable Nsk1 mutant binds prematurely to kinetochores and spindle, cementing improper k-MT attachments and leading to high rates of lagging chromosomes that missegregate. Accordingly, cells lacking nsk1 exhibit synthetic growth defects with mutations that disturb MT dynamics and/or kinetochore structure, and lack of proper phosphoregulation leads to even more severe defects. Intriguingly, Nsk1 is stabilized by binding directly to the dynein light chain Dlc1 independently of the dynein motor, and Nsk1-Dlc1 forms chainlike structures in vitro. Our findings establish new roles for Cdk1 and the Nsk1-Dlc1 complex in regulating the k-MT interface and chromosome segregation.

  5. Increased chromosome radiosensitivity during pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Ricoul, Michelle; Sabatier, Laure; Dutrillaux, Bernard [Commissariat a l`Energie Atomique, Laboratoire de Radiobiologie et Oncologie, DRR, DSV, Fontenay aux roses (France)


    It was necessary to consider the risks of exposure of pregnant women, not only in relation to the child, but also in relation to their own hypersensitivity. We have demonstrated that pregnancy increases radiosensitivity of chromosome in the mouse at the end of gestation. This is of importance since it may have implications on radioprotection of pregnant women and give experimental guidelines to the problems of hypersensitivity to drugs and cancer aggravation during pregnancy. Blood obtained from women at various times of pregnancy was exposed to ionizing radiations. By comparison to non-pregnant women, an increase in chromosome breakage was observed in metaphases from lymphocytes, after short-term culture in the presence of the serum of the same donor. Immediately after delivery, this increase in radiosensitivity disappeared. In a prospective study, serial analyses showed a very strong correlation between the amount of pregnancy hormones, progesterone in particular, and the increase in radiosensitivity. Pregnant women may have an increased sensitivity to ionizing radiation during the second half of their pregnancy. This study provides the first evidence in human that radiosensitivity may vary in relation to physiological conditions.

  6. The Philadelphia chromosome in leukemogenesis

    Institute of Scientific and Technical Information of China (English)

    ZhiJieKang; JinSongYan; QuentinLiu; YuFeiLiu; LingZhiXu; ZiJieLong; DanHuang; YaYang; BingLiu; JiuXingFeng; YuJiaPan


    The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Phila‑delphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability. This aberrant fusion gene encodes the breakpoint cluster region‑proto‑oncogene tyrosine‑protein kinase (BCR‑ABL1) oncogenic protein with persistently enhanced tyrosine kinase activity. The kinase activity is responsible for maintaining proliferation, inhibiting differentia‑tion, and conferring resistance to cell death. During the progression of CML from the chronic phase to the accelerated phase and then to the blast phase, the expression patterns of different BCR‑ABL1 transcripts vary. Each BCR‑ABL1 transcript is present in a distinct leukemia phenotype, which predicts both response to therapy and clinical outcome. Besides CML, the Ph is found in acute lymphoblastic leukemia, acute myeloid leukemia, and mixed‑phenotype acute leukemia. Here, we provide an overview of the clinical presentation and cellular biology of different phenotypes of Ph‑positive leukemia and highlight key ifndings regarding leukemogenesis.

  7. Chromosomal replicons of higher plants

    Energy Technology Data Exchange (ETDEWEB)

    Van' t Hof, J.


    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs.

  8. Chromosomal phenotypes and submicroscopic abnormalities

    Directory of Open Access Journals (Sweden)

    Devriendt Koen


    Full Text Available Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

  9. Conservation of chromosomes syntenic with avian autosomes in squamate reptiles revealed by comparative chromosome painting. (United States)

    Pokorná, Martina; Giovannotti, Massimo; Kratochvíl, Lukáš; Caputo, Vincenzo; Olmo, Ettore; Ferguson-Smith, Malcolm A; Rens, Willem


    In contrast to mammals, birds exhibit a slow rate of chromosomal evolution. It is not clear whether high chromosome conservation is an evolutionary novelty of birds or was inherited from an earlier avian ancestor. The evolutionary conservatism of macrochromosomes between birds and turtles supports the latter possibility; however, the rate of chromosomal evolution is largely unknown in other sauropsids. In squamates, we previously reported strong conservatism of the chromosomes syntenic with the avian Z, which could reflect a peculiarity of this part of the genome. The chromosome 1 of iguanians and snakes is largely syntenic with chromosomes 3, 5 and 7 of the avian ancestral karyotype. In this project, we used comparative chromosome painting to determine how widely this synteny is conserved across nine families covering most of the main lineages of Squamata. The results suggest that the association of the avian ancestral chromosomes 3, 5 and 7 can be dated back to at least the early Jurassic and could be an ancestral characteristic for Unidentata (Serpentes, Iguania, Anguimorpha, Laterata and Scinciformata). In Squamata chromosome conservatism therefore also holds for the parts of the genome which are homologous to bird autosomes, and following on from this, a slow rate of chromosomal evolution could be a common characteristic of all sauropsids. The large evolutionary stasis in chromosome organization in birds therefore seems to be inherited from their ancestors, and it is particularly striking in comparison with mammals, probably the only major tetrapod lineage with an increased rate of chromosomal rearrangements as a whole.

  10. Theosophically Inspired Movements in Denmark

    DEFF Research Database (Denmark)

    Dybdal, René


    The theosophical movement has had a significant influence on the esoteric milieu in Denmark during the 20th Century. In this paper the inspiration on other Groups in Denmark is explored.......The theosophical movement has had a significant influence on the esoteric milieu in Denmark during the 20th Century. In this paper the inspiration on other Groups in Denmark is explored....

  11. Movement disorders in spinocerebellar ataxias

    NARCIS (Netherlands)

    Gaalen, J. van; Giunti, P.; Warrenburg, B.P.C. van de


    Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When c

  12. Human preference for air movement

    DEFF Research Database (Denmark)

    Toftum, Jørn; Melikov, Arsen Krikor; Tynel, A.;


    Human preference for air movement was studied at slightly cool, neutral, and slightly warm overall thermal sensations and at temperatures ranging from 18 deg.C to 28 deg.C. Air movement preference depended on both thermal sensation and temperature, but large inter-individual differences existed...

  13. Compensatory eye movements in mice

    NARCIS (Netherlands)

    A.M. van Alphen (Adriaan)


    textabstractThis thesis will address the generation of compensatory eye movements in naturally mutated or genetically modified mice. The reason for generating compensatory eye movements is solely related to the requirements for good vision. In a subject moving through its environment the projection

  14. The Explanatory Range of Movement

    DEFF Research Database (Denmark)

    Thrane, Torben


    Drawing a distinction between systemic and functional explanations of movement in general, I shall argue that the Chomskyan view of movement in language is originally functional. With the advent of the Minimimalist Program, however, it has become systemic, but no argument for this change has been...

  15. Eye Movements in Gaze Interaction

    DEFF Research Database (Denmark)

    Møllenbach, Emilie; Hansen, John Paulin; Lillholm, Martin


    Gaze as a sole input modality must support complex navigation and selection tasks. Gaze interaction combines specific eye movements and graphic display objects (GDOs). This paper suggests a unifying taxonomy of gaze interaction principles. The taxonomy deals with three types of eye movements: fix...

  16. Air movement - good or bad?

    DEFF Research Database (Denmark)

    Toftum, Jørn


    Air movement - good or bad? The question can only be answered by those who are exposed when they are exposed. Human perception of air movement depends on environmental factors including air velocity, air velocity fluctuations, air temperature, and personal factors such as overall thermal sensation...... and activity level. Even for the same individual, sensitivity to air movement may change from day to day as a result of e.g. different levels of fatigue. Based on existing literature, the current paper summarizes factors influencing the human perception of air movement and attempts to specify in general terms...... influences the subjective perception of air movement. With occupants feeling warmer than neutral, at temperatures above 23oC or at raised activity levels, humans generally do not feel draught at air velocities typical for indoor environments (up to around 0.4 m/s). In the higher temperature range, very high...

  17. Chromosomal painting and ZW sex chromosomes differentiation in Characidium (Characiformes, Crenuchidae

    Directory of Open Access Journals (Sweden)

    Artoni Roberto F


    Full Text Available Abstract Background The Characidium (a Neotropical fish group have a conserved diploid number (2n = 50, but show remarkable differences among species and populations in relation to sex chromosome systems and location of nucleolus organizer regions (NOR. In this study, we isolated a W-specific probe for the Characidium and characterized six Characidium species/populations using cytogenetic procedures. We analyzed the origin and differentiation of sex and NOR-bearing chromosomes by chromosome painting in populations of Characidium to reveal their evolution, phylogeny, and biogeography. Results A W-specific probe for efficient chromosome painting was isolated by microdissection and degenerate oligonucleotide primed-polymerase chain reaction (DOP-PCR amplification of W chromosomes from C. gomesi. The W probe generated weak signals dispersed on the proto sex chromosomes in C. zebra, dispersed signals in both W and Z chromosomes in C. lauroi and, in C. gomesi populations revealed a proximal site on the long arms of the Z chromosome and the entire W chromosome. All populations showed small terminal W probe sites in some autosomes. The 18S rDNA revealed distinctive patterns for each analyzed species/population with regard to proto sex chromosome, sex chromosome pair, and autosome location. Conclusions The results from dual-color fluorescence in situ hybridization (dual-color FISH using W and 18S rDNA probes allowed us to infer the putative evolutionary pathways for the differentiation of sex chromosomes and NORs, from structural rearrangements in a sex proto-chromosome, followed by gene erosion and heterochromatin amplification, morphological differentiation of the sex chromosomal pair, and NOR transposition, giving rise to the distinctive patterns observed among species/populations of Characidium. Biogeographic isolation and differentiation of sex chromosomes seem to have played a major role in the speciation process in this group of fish.

  18. Recognizing and predicting movement effects: identifying critical movement features. (United States)

    Cañal-Bruland, Rouwen; Williams, A Mark


    It is not clear whether the critical features used to discriminate movements are identical to those involved in predicting the same movement's effects and consequently, whether the mechanisms underlying recognition and anticipation differ. We examined whether people rely on different kinematic information when required to recognize differences in the movement pattern in comparison to when they have to anticipate the outcome of these same movements. Naïve participants were presented with paired presentations of point-light animated tennis shots that ended at racket-ball contact. We instructed them either to judge whether the movements observed were the same or different or to predict shot direction (left vs. right). In addition, we locally manipulated the kinematics of point-light figures in an effort to identify the critical features used when making recognition and anticipation judgments. It appears that observers rely on different sources of information when required to recognize movement differences compared to when they need to anticipate the outcome of the same observed movements. Findings are discussed with reference to recent ideas focusing on the role of perceptual and motor resonance in perceptual judgments.

  19. Inheritance of a ring 14 chromosome. (United States)

    Riley, S B; Buckton, K E; Ratcliffe, S G; Syme, J


    A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.

  20. Inheritance of a ring 14 chromosome.


    Riley, S B; Buckton, K E; Ratcliffe, S G; Syme, J.


    A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.

  1. Human male meiotic sex chromosome inactivation

    NARCIS (Netherlands)

    Vries, M. de; Vosters, S.; Merkx, G.F.M.; Hauwers, K.W.M. d'; Wansink, D.G.; Ramos, L.; Boer, P. de


    In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylate

  2. Dynamics of chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck


    Since the 1960’es the conformation and segregation of the chromosome in Escherichia coli has been a subject of interest for many scientists. However, after 40 years of research, we still know incredibly little about how the chromosome is organized inside the cell, how it manages to duplicate...

  3. Chromosome condensation: weaving an untangled web. (United States)

    Thadani, Rahul; Uhlmann, Frank


    The compaction of diffuse interphase chromatin into stable mitotic chromosomes enables the segregation of replicated DNA to daughter cells. Two new studies characterise, both in vivo and in vitro, the essential contribution of the vertebrate condensin complex to chromosome organisation.

  4. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

    Directory of Open Access Journals (Sweden)

    Maria Maurer


    Full Text Available Background: Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. Chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of chromosomal abnormalities in preimplantation embryos with developmental arrest. Materials and Methods: This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011. Results: Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic chromosomal complement. Conclusion: Nearly 70% of arrested embryos exhibit chromosomal errors, making chromosomal abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting.

  5. Genomic Dark Matter Illuminated: Anopheles Y Chromosomes. (United States)

    Redmond, Seth N; Neafsey, Daniel E


    Hall et al. have strategically used long-read sequencing technology to characterize the structure and highly repetitive content of the Y chromosome in Anopheles malaria mosquitoes. Their work confirms that this important but elusive heterochromatic sex chromosome is evolving extremely rapidly and harbors a remarkably small number of genes.

  6. Non-disjunction of chromosome 13

    DEFF Research Database (Denmark)

    Bugge, Merete; Collins, Andrew; Hertz, Jens Michael


    recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms...

  7. Paradigm Lost: The Human Chromosome Story. (United States)

    Unger, Lawrence; Blystone, Robert V.


    Discusses whether the discovery in 1956 that humans have a chromosome number of 46, as opposed to 47 or 48 as previously thought, fits into a paradigm shift of the Kuhnian type. Concludes that Kuhn probably would not have considered the chromosome number shift to be large enough to be a focus for one of his paradigms. (AIM)

  8. Chromosome Segregation: Organizing Overlap at the Midzone

    NARCIS (Netherlands)

    Janson, M.E.; Tran, P.T.


    Sets of overlapping microtubules support the segregation of chromosomes by linking the poles of mitotic spindles. Recent work examines the effect of putting these linkages under pressure by the activation of dicentric chromosomes and sheds new light on the structural role of several well-known spind


    Institute of Scientific and Technical Information of China (English)


    Direct chromosome analysis and FISH were performed on twelve primary gastric carcinomas. Two of them had simple chromosome changes: 48,XX, +8, +20, and 49, XY, +2, +8, +9, and the others had complicated chromosome changes, which includes much more numerical and structural chromosome aberrations. Frequent structural changes in the complicated types involved chromosome 7, 3, 1, 5 and 12 etc. The del 7q was noted in eight cases. The del (3p) and del (1p) were noted in six and five cases, respectively. The results provide some important clues for isolation of the genes related to gastric cancer.

  10. Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them


    Ogilvie Caroline; Kosyakova Nadezda; Mrasek Kristin; Liehr Thomas; Vermeesch Joris; Trifonov Vladimir; Rubtsov Nikolai


    Abstract Background Small supernumerary marker chromosomes (sSMC) and B-chromosomes represent a heterogeneous collection of chromosomes added to the typical karyotype, and which are both small in size. They may consist of heterochromatic and/or euchromatic material. Also a predominance of maternal transmission was reported for both groups. Even though sSMC and B-chromosomes show some similarity it is still an open question if B-chromosomes are present among the heterogeneous group of sSMC. Ac...

  11. Temporal genomic evolution of bird sex chromosomes

    DEFF Research Database (Denmark)

    Wang, Zongji; Zhang, Jilin; Yang, Wei;


    BACKGROUND: Sex chromosomes exhibit many unusual patterns in sequence and gene expression relative to autosomes. Birds have evolved a female heterogametic sex system (male ZZ, female ZW), through stepwise suppression of recombination between chrZ and chrW. To address the broad patterns and complex...... driving forces of Z chromosome evolution, we analyze here 45 newly available bird genomes and four species' transcriptomes, over their course of recombination loss between the sex chromosomes. RESULTS: We show Z chromosomes in general have a significantly higher substitution rate in introns and synonymous...... ('fast-Z' evolution). And species with a lower level of intronic heterozygosities tend to evolve even faster on the Z chromosome. Further analysis of fast-evolving genes' enriched functional categories and sex-biased expression patterns support that, fast-Z evolution in birds is mainly driven by genetic...

  12. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Sloter, E; Wyrobek, A J


    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  13. Temporal genomic evolution of bird sex chromosomes

    DEFF Research Database (Denmark)

    Wang, Zongji; Zhang, Jilin; Yang, Wei;


    BACKGROUND: Sex chromosomes exhibit many unusual patterns in sequence and gene expression relative to autosomes. Birds have evolved a female heterogametic sex system (male ZZ, female ZW), through stepwise suppression of recombination between chrZ and chrW. To address the broad patterns and complex...... driving forces of Z chromosome evolution, we analyze here 45 newly available bird genomes and four species' transcriptomes, over their course of recombination loss between the sex chromosomes. RESULTS: We show Z chromosomes in general have a significantly higher substitution rate in introns and synonymous...... changes with that of introns, between chrZ and autosomes or regions with increasing ages of becoming Z-linked, therefore codon usage bias in birds is probably driven by the mutational bias. On the other hand, Z chromosomes also evolve significantly faster at nonsynonymous sites relative to autosomes...

  14. Review of the Y chromosome and hypertension

    Directory of Open Access Journals (Sweden)

    D. Ely


    Full Text Available The Y chromosome from spontaneously hypertensive rats (SHR has a locus that raises blood pressure 20-25 mmHg. Associated with the SHR Y chromosome effect is a 4-week earlier pubertal rise of testosterone and dependence upon the androgen receptor for the full blood pressure effect. Several indices of enhanced sympathetic nervous system (SNS activity are also associated with the SHR Y chromosome. Blockade of SNS outflow reduced the blood pressure effect. Salt sensitivity was increased by the Y chromosome as was salt appetite which was SNS dependent. A strong correlation (r = 0.57, P<0.001 was demonstrable between plasma testosterone and angiotensin II. Coronary collagen increased with blood pressure and the presence of the SHR Y chromosome. A promising candidate gene for the Y effect is the Sry locus (testis determining factor, a transcription factor which may also have other functions.

  15. Unusual maternal uniparental isodisomic x chromosome mosaicism with asymmetric y chromosomal rearrangement. (United States)

    Lee, B Y; Kim, S Y; Park, J Y; Choi, E Y; Kim, D J; Kim, J W; Ryu, H M; Cho, Y H; Park, S Y; Seo, J T


    Infertile men with azoospermia commonly have associated microdeletions in the azoospermia factor (AZF) region of the Y chromosome, sex chromosome mosaicism, or sex chromosome rearrangements. In this study, we describe an unusual 46,XX and 45,X mosaicism with a rare Y chromosome rearrangement in a phenotypically normal male patient. The patient's karyotype was 46,XX[50]/45,X[25]/46,X,der(Y)(pter→q11.222::p11.2→pter)[25]. The derivative Y chromosome had a deletion at Yq11.222 and was duplicated at Yp11.2. Two copies of the SRY gene were confirmed by fluorescence in situ hybridization analysis, and complete deletion of the AZFb and AZFc regions was shown by multiplex-PCR for microdeletion analysis. Both X chromosomes of the predominant mosaic cell line (46,XX) were isodisomic and derived from the maternal gamete, as determined by examination of short tandem repeat markers. We postulate that the derivative Y chromosome might have been generated during paternal meiosis or early embryogenesis. Also, we suggest that the very rare mosaicism of isodisomic X chromosomes might be formed during maternal meiosis II or during postzygotic division derived from the 46,X,der(Y)/ 45,X lineage because of the instability of the derivative Y chromosome. To our knowledge, this is the first confirmatory study to verify the origin of a sex chromosome mosaicism with a Y chromosome rearrangement.

  16. Comparative analysis by chromosome painting of the sex chromosomes in arvicolid rodents. (United States)

    Acosta, M J; Romero-Fernández, I; Sánchez, A; Marchal, J A


    Sex chromosome evolution in mammals has been extensively investigated through chromosome-painting analyses. In some rodent species from the subfamily Arvicolinae the sex chromosomes contain remarkable features such as giant size, a consequence of heterochromatic enlargement, or asynaptic behaviour during male meiosis. Here, we have made a comparative study of the sex chromosomes in 6 arvicolid species using different probes from the X and Y chromosomes of 3 species, in order to gain knowledge about intra- or interspecific preservation of euchromatic regions. Our results clearly reveal poor conservation of the euchromatic region of the Y chromosome within these species, while the euchromatin on the X chromosome is extremely well preserved. Furthermore, we detected no clear correlation between the synaptic/asynaptic behaviour of the sex chromosomes, and the presence or absence of sequence homology within their euchromatic regions. Notably, our study has shown a new relationship between the giant sex chromosomes of 2 species, Microtus agrestis and Microtus cabrerae, that is, both X and Y share a novel region of common sequences in the euchromatin that is not present in the other species analysed. This interspecific euchromatic conservation, limited to the giant sex chromosomes, could point towards a common evolutionary origin for the heterochromatic enlargement process that has characterized the evolution of the sex chromosomes in some arvicolid species.

  17. Energy Landscapes of Folding Chromosomes (United States)

    Zhang, Bin

    The genome, the blueprint of life, contains nearly all the information needed to build and maintain an entire organism. A comprehensive understanding of the genome is of paramount interest to human health and will advance progress in many areas, including life sciences, medicine, and biotechnology. The overarching goal of my research is to understand the structure-dynamics-function relationships of the human genome. In this talk, I will be presenting our efforts in moving towards that goal, with a particular emphasis on studying the three-dimensional organization, the structure of the genome with multi-scale approaches. Specifically, I will discuss the reconstruction of genome structures at both interphase and metaphase by making use of data from chromosome conformation capture experiments. Computationally modeling of chromatin fiber at atomistic level from first principles will also be presented as our effort for studying the genome structure from bottom up.

  18. New Y chromosomes and early stages of sex chromosome differentiation: sex determination in Megaselia

    Indian Academy of Sciences (India)

    Walther Traut


    The phorid fly Megaselia scalaris is a laboratory model for the turnover and early differentiation of sex chromosomes. Isolates from the field have an XY sex-determining mechanism with chromosome pair 2 acting as X and Y chromosomes. The sex chromosomes are homomorphic but display early signs of sex chromosome differentiation: a low level of molecular differences between X and Y. The male-determining function $(M)$, maps to the distal part of the Y chromosome’s short arm. In laboratory cultures, new Y chromosomes with no signs of a molecular differentiation arise at a low rate, probably by transposition of to these chromosomes. Downstream of the primary signal, the homologue of the Drosophila doublesex (dsx) is part of the sex-determining pathway while Sex-lethal (Sxl), though structurally conserved, is not.

  19. Dynamics of rye chromosome 1R regions with high or low crossover frequency in homology search and synapsis development.

    Directory of Open Access Journals (Sweden)

    Nohelia T Valenzuela

    Full Text Available In many organisms, homologous pairing and synapsis depend on the meiotic recombination machinery that repairs double-strand DNA breaks (DSBs produced at the onset of meiosis. The culmination of recombination via crossover gives rise to chiasmata, which locate distally in many plant species such as rye, Secale cereale. Although, synapsis initiates close to the chromosome ends, a direct effect of regions with high crossover frequency on partner identification and synapsis initiation has not been demonstrated. Here, we analyze the dynamics of distal and proximal regions of a rye chromosome introgressed into wheat to define their role on meiotic homology search and synapsis. We have used lines with a pair of two-armed chromosome 1R of rye, or a pair of telocentrics of its long arm (1RL, which were homozygous for the standard 1RL structure, homozygous for an inversion of 1RL that changes chiasma location from distal to proximal, or heterozygous for the inversion. Physical mapping of recombination produced in the ditelocentric heterozygote (1RL/1RL(inv showed that 70% of crossovers in the arm were confined to a terminal segment representing 10% of the 1RL length. The dynamics of the arms 1RL and 1RL(inv during zygotene demonstrates that crossover-rich regions are more active in recognizing the homologous partner and developing synapsis than crossover-poor regions. When the crossover-rich regions are positioned in the vicinity of chromosome ends, their association is facilitated by telomere clustering; when they are positioned centrally in one of the two-armed chromosomes and distally in the homolog, their association is probably derived from chromosome elongation. On the other hand, chromosome movements that disassemble the bouquet may facilitate chromosome pairing correction by dissolution of improper chromosome associations. Taken together, these data support that repair of DSBs via crossover is essential in both the search of the homologous partner

  20. Novel gene acquisition on carnivore Y chromosomes.

    Directory of Open Access Journals (Sweden)

    William J Murphy


    Full Text Available Despite its importance in harboring genes critical for spermatogenesis and male-specific functions, the Y chromosome has been largely excluded as a priority in recent mammalian genome sequencing projects. Only the human and chimpanzee Y chromosomes have been well characterized at the sequence level. This is primarily due to the presumed low overall gene content and highly repetitive nature of the Y chromosome and the ensuing difficulties using a shotgun sequence approach for assembly. Here we used direct cDNA selection to isolate and evaluate the extent of novel Y chromosome gene acquisition in the genome of the domestic cat, a species from a different mammalian superorder than human, chimpanzee, and mouse (currently being sequenced. We discovered four novel Y chromosome genes that do not have functional copies in the finished human male-specific region of the Y or on other mammalian Y chromosomes explored thus far. Two genes are derived from putative autosomal progenitors, and the other two have X chromosome homologs from different evolutionary strata. All four genes were shown to be multicopy and expressed predominantly or exclusively in testes, suggesting that their duplication and specialization for testis function were selected for because they enhance spermatogenesis. Two of these genes have testis-expressed, Y-borne copies in the dog genome as well. The absence of the four newly described genes on other characterized mammalian Y chromosomes demonstrates the gene novelty on this chromosome between mammalian orders, suggesting it harbors many lineage-specific genes that may go undetected by traditional comparative genomic approaches. Specific plans to identify the male-specific genes encoded in the Y chromosome of mammals should be a priority.

  1. The X chromosome and immune associated genes. (United States)

    Bianchi, Ilaria; Lleo, Ana; Gershwin, M Eric; Invernizzi, Pietro


    The X chromosome is known to contain the largest number of immune-related genes of the whole human genome. For this reason, X chromosome has recently become subject of great interest and attention and numerous studies have been aimed at understanding the role of genes on the X chromosome in triggering and maintaining the autoimmune aggression. Autoimmune diseases are indeed a growing heath burden affecting cumulatively up to 10% of the general population. It is intriguing that most X-linked primary immune deficiencies carry significant autoimmune manifestations, thus illustrating the critical role played by products of single gene located on the X chromosome in the onset, function and homeostasis of the immune system. Again, the plethora of autoimmune stigmata observed in patients with Turner syndrome, a disease due to the lack of one X chromosome or the presence of major X chromosome deletions, indicate that X-linked genes play a unique and major role in autoimmunity. There have been several reports on a role of X chromosome gene dosage through inactivation or duplication in women with autoimmune diseases, for example through a higher rate of circulating cells with a single X chromosome (i.e. with X monosomy). Finally, a challenge for researchers in the coming years will be to dissect the role for the large number of X-linked microRNAs from the perspective of autoimmune disease development. Taken together, X chromosome might well constitute the common trait of the susceptibility to autoimmune diseases, other than to explain the female preponderance of these conditions. This review will focus on the available evidence on X chromosome changes and discuss their potential implications and limitations.

  2. Eventful places in the 2011 movements

    DEFF Research Database (Denmark)

    Risager, Bjarke Skærlund

    Inspired by the Occupy movement, the Egyptian revolutionaries and other of the 2011 social movements, this paper investigates the relationship between social movement and place. Drawing on first-hand accounts from these movements, I argue that the relationship between movement and place is dialec...

  3. Jellyfish movement data - Determining Movement Patterns of Jellyfish (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This project is to determine horizontal and vertical movement patterns of two jellyfish species in Hood Canal, in relation to environmental variables. It is being...

  4. Magnetoencephalographic study on facial movements

    Directory of Open Access Journals (Sweden)

    Kensaku eMiki


    Full Text Available In this review, we introduced our three studies that focused on facial movements. In the first study, we examined the temporal characteristics of neural responses elicited by viewing mouth movements, and assessed differences between the responses to mouth opening and closing movements and an averting eyes condition. Our results showed that the occipitotemporal area, the human MT/V5 homologue, was active in the perception of both mouth and eye motions. Viewing mouth and eye movements did not elicit significantly different activity in the occipitotemporal area, which indicated that perception of the movement of facial parts may be processed in the same manner, and this is different from motion in general. In the second study, we investigated whether early activity in the occipitotemporal region evoked by eye movements was influenced by a face contour and/or features such as the mouth. Our results revealed specific information processing for eye movements in the occipitotemporal region, and this activity was significantly influenced by whether movements appeared with the facial contour and/or features, in other words, whether the eyes moved, even if the movement itself was the same. In the third study, we examined the effects of inverting the facial contour (hair and chin and features (eyes, nose, and mouth on processing for static and dynamic face perception. Our results showed the following: (1 In static face perception, activity in the right fusiform area was affected more by the inversion of features while that in the left fusiform area was affected more by a disruption in the spatial relationship between the contour and features, and (2 In dynamic face perception, activity in the right occipitotemporal area was affected by the inversion of the facial contour.

  5. Movement disorders emergencies: a review

    Directory of Open Access Journals (Sweden)

    Renato P. Munhoz


    Full Text Available Movement disorders (MD encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this review, we covered situations in which the main manifestations are MDs that pose significant risks for acute morbidity and mortality. The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and malignant hyperthermia, acute exacerbation of chronic MD (status dystonicus, hemiballism and stiff-person syndrome, highlighting clinical presentation, demographics, diagnosis and management.

  6. Movement disorders in systemic diseases. (United States)

    Poewe, Werner; Djamshidian-Tehrani, Atbin


    Movement disorders, classically involving dysfunction of the basal ganglia commonly occur in neurodegenerative and structural brain disorders. At times, however, movement disorders can be the initial manifestation of a systemic disease. In this article we discuss the most common movement disorders which may present in infectious, autoimmune, paraneoplastic, metabolic and endocrine diseases. Management often has to be multidisciplinary involving primary care physicians, neurologists, allied health professionals including nurses, occupational therapists and less frequently neurosurgeons. Recognizing and treating the underlying systemic disease is important in order to improve the neurological symptoms.

  7. Re-analysis of the larval testis data on meiotic sex chromosome inactivation revealed evidence for tissue-specific gene expression related to the drosophila X chromosome

    Directory of Open Access Journals (Sweden)

    Vibranovski Maria D


    Full Text Available Abstract Background Meiotic sex chromosome inactivation (MSCI during spermatogenesis has been proposed as one of the evolutionary driving forces behind both the under-representation of male-biased genes on, and the gene movement out of, the X chromosome in Drosophila. However, the relevance of MSCI in shaping sex chromosome evolution is controversial. Here we examine two aspects of a recent study on testis gene expression (Mikhaylova and Nurminsky, BMC Biol 2011, 9:29 that failed to support the MSCI in Drosophila. First, Mikhaylova and Nurminsky found no differences between X-linked and autosomal genes based on the transcriptional profiling of the early testis development, and thus concluded that MSCI does not occur in D. melanogaster. Second, they also analyzed expression data from several D. melanogaster tissues and concluded that under-representation on the X chromosome is not an exclusive property of testis-biased genes, but instead, a general property of tissue-specific genes. Results By re-analyzing the Mikhaylova and Nurminsky's testis data and the expression data on several D. melanogaster tissues, we made two major findings that refuted their original claims. First, the developmental testis data has generally greater experimental error than conventional analyses, which reduced significantly the power to detect chromosomal differences in expression. Nevertheless, our re-analysis observed significantly lower expression of the X chromosome in the genomic transcriptomes of later development stages of the testis, which is consistent with the MSCI hypothesis. Second, tissue-specific genes are also in general enriched with genes more expressed in testes than in ovaries, that is testis-biased genes. By completely excluding from the analyses the testis-biased genes, which are known to be under-represented in the X, we found that all the other tissue-specific genes are randomly distributed between the X chromosome and the autosomes. Conclusions

  8. Special Education as a Social Movement. (United States)

    Lilly, M. Stephen; Smith, Paula


    Social movements are defined, the extent to which special education fits common definitions of social movements is assessed, and the life cycle of social movements is examined with particular focus on implications for special education. (Author)

  9. Emergence and Development of Bulgaria's Environmental Movement. (United States)

    Desai, Uday; Snavely, Keith


    Bulgaria's environmental movement played a role in ending communist rule, but environmental issues were not completely resolved. Social movements may never achieve their objectives in totality but instead enter a new cycle of the movement. (SK)

  10. Laban Movement Analysis in Dance Education. (United States)

    Hankin, Toby


    Laban Movement Analysis is a system that helps dancers recognize and define the variety of elements that make up the movement event. This is not a method of teaching a movement style, but provides a means for creative expression. (DF)

  11. Trajectory Indexing Using Movement Constraints

    DEFF Research Database (Denmark)

    Pfoser, D.; Jensen, Christian Søndergaard


    With the proliferation of mobile computing, the ability to index efficiently the movements of mobile objects becomes important. Objects are typically seen as moving in two-dimensional (x,y) space, which means that their movements across time may be embedded in the three-dimensional (x,y,t) space...... is to reduce movements to occur in one spatial dimension. As a consequence, the movement occurs in two-dimensional (x,t) space. The advantages of considering such lower-dimensional trajectories are that the overall size of the data is reduced and that lower-dimensional data is to be indexed. Since off......-the-shelf database management systems typically do not offer higher-dimensional indexing, this reduction in dimensionality allows us to use existing DBMSes to store and index trajectories. Moreover, we argue that, given the right circumstances, indexing these dimensionality-reduced trajectories can be more efficient...

  12. Eye Movements When Viewing Advertisements

    Directory of Open Access Journals (Sweden)

    Emily eHiggins


    Full Text Available In this selective review, we examine key findings on eye movements when viewing advertisements. We begin with a brief, general introduction to the properties and neural underpinnings of saccadic eye movements. Next, we provide an overview of eye movement behavior during reading, scene perception, and visual search, since each of these activities is, at various times, involved in viewing ads. We then review the literature on eye movements when viewing print ads and warning labels (of the kind that appear on alcohol and tobacco ads, before turning to a consideration of advertisements in dynamic media (television and the Internet. Finally, we propose topics and methodological approaches that may prove to be useful in future research.

  13. Bewitched - The Tea Party Movement

    DEFF Research Database (Denmark)

    Ashbee, Edward


    This article considers the development of the Tea Party movement, the character of its thinking and the nature of the interests and constituencies to which it is tied. The article suggests that despite the importance of ideas and interests, and the process of interaction between them, the movement...... has also been shaped and energised by institutional arrangements. In particular, it argues that there are significant numbers of independent or ‘detached’ conservatives and that the institutional architecture draws them towards political engagement but at the same time imposes constraints....... The political friction that this creates has contributed to the anger that has characterised the movement. While the Tea Party movement may, as such, have only an ephemeral existence, independent conservatives are likely to remain a significant and potent constituency and will, within the institutional...

  14. Social movements: A poststructuralist reading.

    Directory of Open Access Journals (Sweden)

    Antón Fernández de Rota Irimia


    Full Text Available The present article tries to rethink social movements from a poststructuralist position, going beyond Synthesis Theory. For the last twenty years the synthesis of the theories of Resource Mobilization, Political Opportunity and Cognitive Framing has been taken to be the last word in the sociology of social movements. Nevertheless, far from being any sort of advance, Synthesis Theory has merely perpetuated previous theories, without, in my opinion,managing to reconceptualize the constitution of power, or the force and embodiment of movement. The lack of theoretical attention to the definition of movement is a curious absence which needs to be redressed . My aim is approach it not from the notion of "subject" or any other type of "institution", but rather in terms of the contingencies of everyday life.   

  15. [Y chromosome structural abnormalities and Turner's syndrome]. (United States)

    Ravel, C; Siffroi, J-P


    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  16. Developmental regulation of X-chromosome inactivation. (United States)

    Payer, Bernhard


    With the emergence of sex-determination by sex chromosomes, which differ in composition and number between males and females, appeared the need to equalize X-chromosomal gene dosage between the sexes. Mammals have devised the strategy of X-chromosome inactivation (XCI), in which one of the two X-chromosomes is rendered transcriptionally silent in females. In the mouse, the best-studied model organism with respect to XCI, this inactivation process occurs in different forms, imprinted and random, interspersed by periods of X-chromosome reactivation (XCR), which is needed to switch between the different modes of XCI. In this review, I describe the recent advances with respect to the developmental control of XCI and XCR and in particular their link to differentiation and pluripotency. Furthermore, I review the mechanisms, which influence the timing and choice, with which one of the two X-chromosomes is chosen for inactivation during random XCI. This has an impact on how females are mosaics with regard to which X-chromosome is active in different cells, which has implications on the severity of diseases caused by X-linked mutations.

  17. [Dosage compensation mechanism of X chromosome]. (United States)

    Wang, Yan-Yun; Chen, Mei; Li, Bin


    Dosage compensation mechanism is crucial for the balance expression of X chromosome genes, which ensures the protein or enzyme encoded by the X chromosome to be equal or almost equal expression amounts between males and females. However, different organisms have evolved distinct dosage compensation strategies, and so far three kinds of dosage compensation strategies among organisms have been reported. The first strategy is that the single male X chromosome expression is doubly activated; the second one is to inactivate one female X chromosome by leaving both sexes with one active allele; and the third one is to reduce the expression to half activity in both X chromosomes of the female. The study of dosage compensation will be useful to reveal the mechanism of regulation of X-linked genes as well as the evolution and the differentiation progress of the sex chromosome, and it can also contribute to illustrate mutation and distortion of sex chromosome. Therefore, this paper briefly reviewed and discussed the progresses and prospects of the important mechanism of dosage compensation.

  18. Engineered human dicentric chromosomes show centromere plasticity. (United States)

    Higgins, Anne W; Gustashaw, Karen M; Willard, Huntington F


    The centromere is essential for the faithful distribution of a cell's genetic material to subsequent generations. Despite intense scrutiny, the precise genetic and epigenetic basis for centromere function is still unknown. Here, we have used engineered dicentric human chromosomes to investigate mammalian centromere structure and function. We describe three classes of dicentric chromosomes isolated in different cell lines: functionally monocentric chromosomes, in which one of the two genetically identical centromeres is consistently inactivated; functionally dicentric chromosomes, in which both centromeres are consistently active; and dicentric chromosomes heterogeneous with respect to centromere activity. A study of serial single cell clones from heterogeneous cell lines revealed that while centromere activity is usually clonal, the centromere state (i.e. functionally monocentric or dicentric) in some lines can switch within a growing population of cells. Because pulsed field gel analysis indicated that the DNA at the centromeres of these chromosomes did not change detectably, this switching of the centromere state is most likely due to epigenetic changes. Inactivation of one of the two active centromeres in a functionally dicentric chromosome was observed in a percentage of cells after treatment with Trichostatin A, an inhibitor of histone deacetylation. This study provides evidence that the activity of human centromeres, while largely stable, can be subject to dynamic change, most likely due to epigenetic modification.

  19. Chromosome I duplications in Caenorhabditis elegans

    Energy Technology Data Exchange (ETDEWEB)

    McKim, K.S.; Rose, A.M. (Univ. of British Columbia, Vancouver (Canada))


    We have isolated and characterized 76 duplications of chromosome I in the genome of Caenorhabditis elegans. The region studied is the 20 map unit left half of the chromosome. Sixty-two duplications were induced with gamma radiation and 14 arose spontaneously. The latter class was apparently the result of spontaneous breaks within the parental duplication. The majority of duplications behave as if they are free. Three duplications are attached to identifiable sequences from other chromosomes. The duplication breakpoints have been mapped by complementation analysis relative to genes on chromosome I. Nineteen duplication breakpoints and seven deficiency breakpoints divide the left half of the chromosome into 24 regions. We have studied the relationship between duplication size and segregational stability. While size is an important determinant of mitotic stability, it is not the only one. We observed clear exceptions to a size-stability correlation. In addition to size, duplication stability may be influenced by specific sequences or chromosome structure. The majority of the duplications were stable enough to be powerful tools for gene mapping. Therefore the duplications described here will be useful in the genetic characterization of chromosome I and the techniques we have developed can be adapted to other regions of the genome.

  20. Large-scale reconstruction of 3D structures of human chromosomes from chromosomal contact data. (United States)

    Trieu, Tuan; Cheng, Jianlin


    Chromosomes are not positioned randomly within a nucleus, but instead, they adopt preferred spatial conformations to facilitate necessary long-range gene-gene interactions and regulations. Thus, obtaining the 3D shape of chromosomes of a genome is critical for understanding how the genome folds, functions and how its genes interact and are regulated. Here, we describe a method to reconstruct preferred 3D structures of individual chromosomes of the human genome from chromosomal contact data generated by the Hi-C chromosome conformation capturing technique. A novel parameterized objective function was designed for modeling chromosome structures, which was optimized by a gradient descent method to generate chromosomal structural models that could satisfy as many intra-chromosomal contacts as possible. We applied the objective function and the corresponding optimization method to two Hi-C chromosomal data sets of both a healthy and a cancerous human B-cell to construct 3D models of individual chromosomes at resolutions of 1 MB and 200 KB, respectively. The parameters used with the method were calibrated according to an independent fluorescence in situ hybridization experimental data. The structural models generated by our method could satisfy a high percentage of contacts (pairs of loci in interaction) and non-contacts (pairs of loci not in interaction) and were compatible with the known two-compartment organization of human chromatin structures. Furthermore, structural models generated at different resolutions and from randomly permuted data sets were consistent.

  1. Analysis of chromosome conservation in Lemur catta studied by chromosome paints and BAC/PAC probes. (United States)

    Cardone, Maria Francesca; Ventura, Mario; Tempesta, Sergio; Rocchi, Mariano; Archidiacono, Nicoletta


    A panel of human chromosome painting probes and bacterial and P1 artificial chromosome (BAC/PAC) clones were used in fluorescence in situ hybridization (FISH) experiments to investigate the chromosome conservation of the ring-tailed lemur (Lemur catta, LCA) with respect to human. Whole chromosome paints specific for human chromosomes 7, 9, 11, 13, 14, 17, 18, 20, 21, and X were found to identify a single chromosome or an uninterrupted chromosomal region in LCA. A large set of partial chromosome paints and BAC/PAC probes were then used to refine the characterization of the rearrangements differentiating the two karyotypes. The results were also used to reconstruct the ancestral Lemuridae karyotype. Lemur catta, indeed, can be used as an outgroup, allowing symplesiomorphic (ancestral) rearrangements to be distinguished from apomorphic (derived) rearrangements in lemurs. Some LCA chromosomes are difficult to distinguish morphologically. The 'anchorage' of most LCA chromosomes to specific probes will contribute to the standardization of the karyotype of this species.

  2. Invarient patterns in articulatory movements (United States)

    Bonaventura, Patrizia


    The purpose of the reported study is to discover an effective method of characterizing movement patterns of the crucial articulator as the function of an abstract syllable magnitude and the adjacent boundary, and at the same time to investigate effects of prosodic control on utterance organization. In particular, the speed of movement when a flesh point on the tongue blade or the lower lip crosses a selected position relative to the occlusion plane is examined. The time of such crossing provides an effective measure of syllable timing and syllable duration according to previous work. In the present work, using a very limited vocabulary with only a few consonants and one vowel as the key speech materials, effects of contrastive emphasis on demisyllabic movement patterns were studied. The theoretical framework for this analysis is the C/D model of speech production in relation to the concept of an invariant part of selected articulatory movements. The results show evidence in favor of the existence of ``iceberg'' patterns, but a linear dependence of slope on the total excursion of the demisyllabic movement, instead of the approximate constancy of the threshold crossing speed as suggested in the original proposal of the iceberg, has been found. Accordingly, a revision of the original concept of iceberg, seems necessary. This refinement is consistent with the C/D model assumption on ``prominence control'' that the syllable magnitude determines the movement amplitude, accompanying directly related syllable duration change. In this assumption, the movement of a consonantal component should also be proportional to syllable magnitude. The results suggests, however, systematic outliers deviating from the linear dependence of movement speed on excursion. This deviation may be caused by the effect of the immediately following boundary, often referred to as phrase-final elongation. Thesis advisor: Osamu Fujimura Copies of this thesis written in English can be obtained from

  3. Mindful movement and skilled attention



    Bodily movement has long been employed as a foundation for cultivating mental skills such as attention, self-control or mindfulness, with recent studies documenting the positive impacts of mindful movement training, such as yoga and tai chi. A parallel “mind-body connection” has also been observed in many developmental disorders. We elaborate a spectrum of mindfulness by considering ADHD, in which deficient motor control correlates with impaired (disinhibited) behavioral control contributing ...

  4. Emotional processing affects movement speed. (United States)

    Hälbig, Thomas D; Borod, Joan C; Frisina, Pasquale G; Tse, Winona; Voustianiouk, Andrei; Olanow, C Warren; Gracies, Jean-Michel


    Emotions can affect various aspects of human behavior. The impact of emotions on behavior is traditionally thought to occur at central, cognitive and motor preparation stages. Using EMG to measure the effects of emotion on movement, we found that emotional stimuli differing in valence and arousal elicited highly specific effects on peripheral movement time. This result has conceptual implications for the emotion-motion link and potentially practical implications for neurorehabilitation and professional environments where fast motor reactions are critical.

  5. The movement ecology of seagrasses. (United States)

    McMahon, Kathryn; van Dijk, Kor-Jent; Ruiz-Montoya, Leonardo; Kendrick, Gary A; Krauss, Siegfried L; Waycott, Michelle; Verduin, Jennifer; Lowe, Ryan; Statton, John; Brown, Eloise; Duarte, Carlos


    A movement ecology framework is applied to enhance our understanding of the causes, mechanisms and consequences of movement in seagrasses: marine, clonal, flowering plants. Four life-history stages of seagrasses can move: pollen, sexual propagules, vegetative fragments and the spread of individuals through clonal growth. Movement occurs on the water surface, in the water column, on or in the sediment, via animal vectors and through spreading clones. A capacity for long-distance dispersal and demographic connectivity over multiple timeframes is the novel feature of the movement ecology of seagrasses with significant evolutionary and ecological consequences. The space-time movement footprint of different life-history stages varies. For example, the distance moved by reproductive propagules and vegetative expansion via clonal growth is similar, but the timescales range exponentially, from hours to months or centuries to millennia, respectively. Consequently, environmental factors and key traits that interact to influence movement also operate on vastly different spatial and temporal scales. Six key future research areas have been identified.

  6. Mirror movements in progressive hemifacial atrophy

    Directory of Open Access Journals (Sweden)

    Rajesh Verma


    Full Text Available Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand.

  7. Mirror movements in progressive hemifacial atrophy (United States)

    Verma, Rajesh; Dixit, Puneet Kumar; Lalla, Rakesh; Singh, Babita


    Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand. PMID:26019431

  8. Segregation of the replication terminus of the two Vibrio cholerae chromosomes. (United States)

    Srivastava, Preeti; Fekete, Richard A; Chattoraj, Dhruba K


    Genome duplication and segregation normally are completed before cell division in all organisms. The temporal relation of duplication and segregation, however, can vary in bacteria. Chromosomal regions can segregate towards opposite poles as they are replicated or can stay cohered for a considerable period before segregation. The bacterium Vibrio cholerae has two differently sized circular chromosomes, chromosome I (chrI) and chrII, of about 3 and 1 Mbp, respectively. The two chromosomes initiate replication synchronously, and the shorter chrII is expected to complete replication earlier than the longer chrI. A question arises as to whether the segregation of chrII also is completed before that of chrI. We fluorescently labeled the terminus regions of chrI and chrII and followed their movements during the bacterial cell cycle. The chrI terminus behaved similarly to that of the Escherichia coli chromosome in that it segregated at the very end of the cell division cycle: cells showed a single fluorescent focus even when the division septum was nearly complete. In contrast, the single focus representing the chrII terminus could divide at the midcell position well before cell septation was conspicuous. There were also cells where the single focus for chrII lingered at midcell until the end of a division cycle, like the terminus of chrI. The single focus in these cells overlapped with the terminus focus for chrI in all cases. It appears that there could be coordination between the two chromosomes through the replication and/or segregation of the terminus region to ensure their segregation to daughter cells.

  9. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp


    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  10. Homologies between human and marmoset (Callithrix jacchus) chromosomes revealed by comparative chromosome painting

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    Sherlock, J.K.; Griffin, D.K.; Delhanty, J.D.A.; Parrington, J.M. [Univ. College London (United Kingdom)


    Regions of DNA homology between human and marmoset (Callithrix jacchus) chromosomes have been demonstrated using fluorescence in situ hybridization. All 24 chromosome paints and two centromere repeat sequences from Homo sapiens (HSA) have been annealed to previously G-banded metaphase spreads of Callithrix jacchus. All human paint probes, except Y, successfully hybridized to marmoset chromosomes. Fifteen of them hybridized to one region only, seven to two regions, and paint 1 to three regions. Homologies proposed from previous banding comparisons have been confirmed for HSA 2, 4-6, 10-12, 18, 19, 21, and X and partially confirmed for HSA 1 and 3, but were not in agreement for HSA 14 and 17. Human centromere repeat sequences for X and 18 did not hybridize to marmoset chromosomes. Because, at present, there is the confusing situation of several different numbering systems for marmoset chromosomes, we propose a new simpler nomenclature based on descending order of chromosome size. 25 refs., 3 figs.

  11. Chromosome landmarks and autosome-sex chromosome translocations in Rumex hastatulus, a plant with XX/XY1Y2 sex chromosome system. (United States)

    Grabowska-Joachimiak, Aleksandra; Kula, Adam; Książczyk, Tomasz; Chojnicka, Joanna; Sliwinska, Elwira; Joachimiak, Andrzej J


    Rumex hastatulus is the North American endemic dioecious plant with heteromorphic sex chromosomes. It is differentiated into two chromosomal races: Texas (T) race characterised by a simple XX/XY sex chromosome system and North Carolina (NC) race with a polymorphic XX/XY1Y2 sex chromosome system. The gross karyotype morphology in NC race resembles the derived type, but chromosomal changes that occurred during its evolution are poorly understood. Our C-banding/DAPI and fluorescence in situ hybridization (FISH) experiments demonstrated that Y chromosomes of both races are enriched in DAPI-positive sequences and that the emergence of polymorphic sex chromosome system was accompanied by the break of ancestral Y chromosome and switch in the localization of 5S rDNA, from autosomes to sex chromosomes (X and Y2). Two contrasting domains were detected within North Carolina Y chromosomes: the older, highly heterochromatinised, inherited from the original Y chromosome and the younger, euchromatic, representing translocated autosomal material. The flow-cytometric DNA estimation showed ∼3.5 % genome downsizing in the North Carolina race. Our results are in contradiction to earlier reports on the lack of heterochromatin within Y chromosomes of this species and enable unambiguous identification of autosomes involved in the autosome-heterosome translocation, providing useful chromosome landmarks for further studies on the karyotype and sex chromosome differentiation in this species.

  12. Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin. (United States)

    Gotoh, Eisuke


    Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

  13. Mass movement in northeast Afghanistan (United States)

    Shroder, John F.; Weihs, Brandon J.; Schettler, Megan Jensen

    Mass movements of nearly all types occur in Afghanistan but in the high relief, rugged Pamir and Hindu Kush mountains of northeastern Afghanistan, mass-movement threats to lives and property necessitated study to elucidate problems to development. Twenty-two different mass movements in bedrock in the Badakhshan Province of northeastern Afghanistan were studied for this paper, including large rock falls and rock slides, along with massive slope-failure complexes with many types and rates of movement. Where higher altitudes prevail in the region, ice-cemented and ice-cored rock glaciers are also common and overlie some of the other mass movements. Inasmuch as seismic energy sources in the Eastern Hindu Kush are maximal in southern Badakhshan, and relief, slope angles and precipitation all increase from west to east as well, the causes of the pervasive mass movement are plentiful enough, although direct cause and slope-failure effect are not known. Some weak sedimentary lithologies downfaulted into, or draped across crystalline rocks, also failed. Some intermixed tills also occur but are not easily differentiated, even with analysis on the ground. Using high resolution satellite imagery and digital elevation models, we assessed geomorphologic parameters to characterize spatial-organization structures related to zones of erosion, deposition and further hazard potential. Analyses indicate that many of the massive slope failures can be characterized and differentiated into various process domains and chronologic-development zones with their different impacts upon the landscape. Mass movements in Afghanistan can exhibit unique topographic signatures that can be used to better assess hazards in other mountain areas, especially where landslide-dam breakout floods threaten. Development of roads, bridges, buildings, and irrigation networks should be done with care in these regions of Afghanistan.

  14. Mindful Movement and Skilled Attention

    Directory of Open Access Journals (Sweden)

    Dav eClark


    Full Text Available Bodily movement has long been employed as a foundation for cultivating mental skills such as attention, self-control or mindfulness, with recent studies documenting the positive impacts of mindful movement training, such as yoga and tai chi. A parallel mind-body connection has also been observed in many developmental disorders. We elaborate a spectrum of mindfulness by considering ADHD, in which deficient motor control correlates with impaired (disinhibited behavioral control contributing to defining features of excessive distractibility and impulsivity. These data provide evidence for an important axis of variation for wellbeing, in which skillful cognitive control covaries with a capacity for skillful movement. We review empirical and theoretical literature on attention, cognitive control, mind wandering, mindfulness and skill learning, endorsing a model of skilled attention in which motor plans, attention, and executive goals are seen as mutually co-defining aspects of skilled behavior that are linked by reciprocal inhibitory and excitatory connections. Thus, any movement training should engage higher-order inhibition and selection and develop a repertoire of rehearsed procedures that coordinate goals, attention and motor plans. However, we propose that mindful movement practice may improve the functional quality of rehearsed procedures, cultivating a transferrable skill of attention. We adopt Langer’s spectrum of mindful learning that spans from mindlessness to engagement with the details of the present task and contrast this with the mental attitudes cultivated in standard mindfulness meditation. We particularly follow Feldenkrais’ suggestion that mindful learning of skills for organizing the body in movement might transfer to other forms of mental activity. The results of mindful movement training should be observed in multiple complementary measures, and may have tremendous potential benefit for individuals with ADHD and other

  15. Mindful movement and skilled attention. (United States)

    Clark, Dav; Schumann, Frank; Mostofsky, Stewart H


    Bodily movement has long been employed as a foundation for cultivating mental skills such as attention, self-control or mindfulness, with recent studies documenting the positive impacts of mindful movement training, such as yoga and tai chi. A parallel "mind-body connection" has also been observed in many developmental disorders. We elaborate a spectrum of mindfulness by considering ADHD, in which deficient motor control correlates with impaired (disinhibited) behavioral control contributing to defining features of excessive distractibility and impulsivity. These data provide evidence for an important axis of variation for wellbeing, in which skillful cognitive control covaries with a capacity for skillful movement. We review empirical and theoretical literature on attention, cognitive control, mind wandering, mindfulness and skill learning, endorsing a model of skilled attention in which motor plans, attention, and executive goals are seen as mutually co-defining aspects of skilled behavior that are linked by reciprocal inhibitory and excitatory connections. Thus, any movement training should engage "higher-order" inhibition and selection and develop a repertoire of rehearsed procedures that coordinate goals, attention and motor plans. However, we propose that mindful movement practice may improve the functional quality of rehearsed procedures, cultivating a transferrable skill of attention. We adopt Langer's spectrum of mindful learning that spans from "mindlessness" to engagement with the details of the present task and contrast this with the mental attitudes cultivated in standard mindfulness meditation. We particularly follow Feldenkrais' suggestion that mindful learning of skills for organizing the body in movement might transfer to other forms of mental activity. The results of mindful movement training should be observed in multiple complementary measures, and may have tremendous potential benefit for individuals with ADHD and other populations.

  16. XYY chromosome abnormality in sexual homicide perpetrators. (United States)

    Briken, Peer; Habermann, Niels; Berner, Wolfgang; Hill, Andreas


    In a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7-0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy Checklist-Revised [Hare RD, 1991, The Hare Psychopathy Checklist-Revised, Toronto, Ontario, Canada: Multi-Health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders.

  17. Chromosome replication and segregation in bacteria. (United States)

    Reyes-Lamothe, Rodrigo; Nicolas, Emilien; Sherratt, David J


    In dividing cells, chromosome duplication once per generation must be coordinated with faithful segregation of newly replicated chromosomes and with cell growth and division. Many of the mechanistic details of bacterial replication elongation are well established. However, an understanding of the complexities of how replication initiation is controlled and coordinated with other cellular processes is emerging only slowly. In contrast to eukaryotes, in which replication and segregation are separate in time, the segregation of most newly replicated bacterial genetic loci occurs sequentially soon after replication. We compare the strategies used by chromosomes and plasmids to ensure their accurate duplication and segregation and discuss how these processes are coordinated spatially and temporally with growth and cell division. We also describe what is known about the three conserved families of ATP-binding proteins that contribute to chromosome segregation and discuss their inter-relationships in a range of disparate bacteria.

  18. Meiosis I: when chromosomes undergo extreme makeover. (United States)

    Miller, Matthew P; Amon, Angelika; Ünal, Elçin


    The ultimate success of cell division relies on the accurate partitioning of the genetic material. Errors in this process occur in nearly all tumors and are the leading cause of miscarriages and congenital birth defects in humans. Two cell divisions, mitosis and meiosis, use common as well as unique mechanisms to ensure faithful chromosome segregation. In mitosis, alternating rounds of DNA replication and chromosome segregation preserve the chromosome complement of the progenitor cell. In contrast, during meiosis two consecutive rounds of nuclear division, meiosis I and meiosis II, follow a single round of DNA replication to reduce the chromosome complement by half. Meiosis likely evolved through changes to the mitotic cell division program. This review will focus on the recent findings describing the modifications that transform mitosis into meiosis.

  19. A Revised Map of the Human Chromosomes. (United States)

    Offner, Susan


    Presents an updated map of the human chromosomes, building on a "plain English map" that was previously published. A brief summary of genes research is included in the gene explanations accompanying the map. (PR)

  20. Genomic regulatory landscapes and chromosomal rearrangements

    DEFF Research Database (Denmark)

    Ladegaard, Elisabete L Engenheiro


    The main objectives of the PhD study are to identify and characterise chromosomal rearrangements within evolutionarily conserved regulatory landscapes around genes involved in the regulation of transcription and/or development (trans-dev genes). A frequent feature of trans-dev genes...... the complex spatio-temporal expression of the associated trans-dev gene. Rare chromosomal breakpoints that disrupt the integrity of these regulatory landscapes may be used as a tool, not only to make genotype-phenotype associations, but also to link the associated phenotype with the position and tissue...... specificity of the individual CNEs. In this PhD study I have studied several chromosomal rearrangements with breakpoints in the vicinity of trans-dev genes. This included chromosomal rearrangements compatible with known phenotype-genotype associations (Rieger syndrome-PITX2, Mowat-Wilson syndrome-ZEB2...

  1. Genetics Home Reference: isodicentric chromosome 15 syndrome (United States)

    ... isodicentric chromosome 15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. Other behaviors resemble features of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  2. Spindle checkpoint-independent inhibition of mitotic chromosome segregation by Drosophila Mps1. (United States)

    Althoff, Friederike; Karess, Roger E; Lehner, Christian F


    Monopolar spindle 1 (Mps1) is essential for the spindle assembly checkpoint (SAC), which prevents anaphase onset in the presence of misaligned chromosomes. Moreover, Mps1 kinase contributes in a SAC-independent manner to the correction of erroneous initial attachments of chromosomes to the spindle. Our characterization of the Drosophila homologue reveals yet another SAC-independent role. As in yeast, modest overexpression of Drosophila Mps1 is sufficient to delay progression through mitosis during metaphase, even though chromosome congression and metaphase alignment do not appear to be affected. This delay in metaphase depends on the SAC component Mad2. Although Mps1 overexpression in mad2 mutants no longer causes a metaphase delay, it perturbs anaphase. Sister kinetochores barely move apart toward spindle poles. However, kinetochore movements can be restored experimentally by separase-independent resolution of sister chromatid cohesion. We propose therefore that Mps1 inhibits sister chromatid separation in a SAC-independent manner. Moreover, we report unexpected results concerning the requirement of Mps1 dimerization and kinase activity for its kinetochore localization in Drosophila. These findings further expand Mps1's significance for faithful mitotic chromosome segregation and emphasize the importance of its careful regulation.

  3. Spermatogenesis Drives Rapid Gene Creation and Masculinization of the X Chromosome in Stalk-Eyed Flies (Diopsidae). (United States)

    Baker, Richard H; Narechania, Apurva; DeSalle, Rob; Johns, Philip M; Reinhardt, Josephine A; Wilkinson, Gerald S


    Throughout their evolutionary history, genomes acquire new genetic material that facilitates phenotypic innovation and diversification. Developmental processes associated with reproduction are particularly likely to involve novel genes. Abundant gene creation impacts the evolution of chromosomal gene content and general regulatory mechanisms such as dosage compensation. Numerous studies in model organisms have found complex and, at times contradictory, relationships among these genomic attributes highlighting the need to examine these patterns in other systems characterized by abundant sexual selection. Therefore, we examined the association among novel gene creation, tissue-specific gene expression, and chromosomal gene content within stalk-eyed flies. Flies in this family are characterized by strong sexual selection and the presence of a newly evolved X chromosome. We generated RNA-seq transcriptome data from the testes for three species within the family and from seven additional tissues in the highly dimorphic species,Teleopsis dalmanni Analysis of dipteran gene orthology reveals dramatic testes-specific gene creation in stalk-eyed flies, involving numerous gene families that are highly conserved in other insect groups. Identification of X-linked genes for the three species indicates that the X chromosome arose prior to the diversification of the family. The most striking feature of this X chromosome is that it is highly masculinized, containing nearly twice as many testes-specific genes as expected based on its size. All the major processes that may drive differential sex chromosome gene content-creation of genes with male-specific expression, development of male-specific expression from pre-existing genes, and movement of genes with male-specific expression-are elevated on the X chromosome ofT. dalmanni This masculinization occurs despite evidence that testes expressed genes do not achieve the same levels of gene expression on the X chromosome as they do on

  4. Female meiotic sex chromosome inactivation in chicken. (United States)

    Schoenmakers, Sam; Wassenaar, Evelyne; Hoogerbrugge, Jos W; Laven, Joop S E; Grootegoed, J Anton; Baarends, Willy M


    During meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI) leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (ZW), whereas males have the homogametic ZZ constitution. During chicken oogenesis, the heterologous ZW pair reaches a state of complete heterologous synapsis, and this might enable maintenance of transcription of Z- and W chromosomal genes during meiotic prophase. Herein, we show that the ZW pair is transiently silenced, from early pachytene to early diplotene using immunocytochemistry and gene expression analyses. We propose that ZW inactivation is most likely achieved via spreading of heterochromatin from the W on the Z chromosome. Also, persistent meiotic DNA double-strand breaks (DSBs) may contribute to silencing of Z. Surprisingly, gammaH2AX, a marker of DSBs, and also the earliest histone modification that is associated with XY body formation in mammalian and marsupial spermatocytes, does not cover the ZW during the synapsed stage. However, when the ZW pair starts to desynapse, a second wave of gammaH2AX accumulates on the unsynapsed regions of Z, which also show a reappearance of the DSB repair protein RAD51. This indicates that repair of meiotic DSBs on the heterologous part of Z is postponed until late pachytene/diplotene, possibly to avoid recombination with regions on the heterologously synapsed W chromosome. Two days after entering diplotene, the Z looses gammaH2AX and shows reactivation. This is the first report of meiotic sex chromosome inactivation in a species with female heterogamety, providing evidence that this mechanism is not specific to spermatogenesis. It also indicates the presence of an evolutionary force that drives meiotic sex chromosome inactivation independent of the final achievement of synapsis.

  5. Abnormal Chromosome Segregation May Trigger Tumors

    Institute of Scientific and Technical Information of China (English)


    @@ Cancer is a primary threat to human health as it kills millions of people each year.Scientists have shown that 75% of human cancers have an abnormal number of chromosomes in cells,and the proportion of the cells with an abnormal chromosome number is tightly and positively related to malignance progression and metastasis of cancers. But the pathological mechanism behind the anomaly still remains unknown.

  6. Chromosomal profile of indigenous pig (Sus scrofa

    Directory of Open Access Journals (Sweden)

    P. Guru Vishnu


    Full Text Available Aim: The objective of this study was to investigate the chromosomal profile of indigenous pigs by computing morphometric measurements. Materials and Methods: A cytogenetic study was carried out in 60 indigenous pigs to analyze the chromosomal profile by employing the short term peripheral blood lymphocyte culture technique. Results: The modal chromosome number (2n in indigenous pigs was found to be 38 and a fundamental number of 64 as in the exotic. First chromosome was the longest pair, and thirteenth pair was the second largest while Y-chromosome was the smallest in the karyotype of the pig. The mean relative length, arm ratio, centromeric indices and morphological indices of chromosomes varied from 1.99±0.01 to 11.23±0.09, 1.04±0.05 to 2.95±0.02, 0.51±0.14 to 0.75±0.09 and 2.08±0.07 to 8.08±0.15%, respectively in indigenous pigs. Sex had no significant effect (p>0.05 on all the morphometric measurements studied. Conclusion: The present study revealed that among autosomes first five pairs were sub metacentric, next two pairs were sub telocentric (6-7, subsequent five pairs were metacentric (8-12 and remaining six pairs were telocentric (13-18, while both allosomes were metacentric. The chromosomal number, morphology and various morphometric measurements of the chromosomes of the indigenous pigs were almost similar to those established breeds reported in the literature.

  7. Abnormal sex chromosome constitution and longitudinal growth

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Skakkebaek, Niels E; Juul, Anders


    Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles.......Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles....

  8. Entropy as the driver of chromosome segregation


    Jun, Suckjoon; Wright, Andrew


    We present a new physical biology approach to understanding the relationship between the organization and segregation of bacterial chromosomes. We posit that replicated Escherichia coli daughter strands will spontaneously demix as a result of entropic forces, despite their strong confinement within the cell; in other words, we propose that entropy can act as a primordial physical force which drives chromosome segregation under the right physical conditions. Furthermore, proteins implicated in...

  9. Plasmid and chromosome segregation in prokaryotes

    DEFF Research Database (Denmark)

    Møller-Jensen, Jakob; Bugge Jensen, Rasmus; Gerdes, Kenn


    Recent major advances in the understanding of prokaryotic DNA segregation have been achieved by using fluorescence microscopy to visualize the localization of cellular components. Plasmids and bacterial chromosomes are partitioned in a highly dynamic fashion, suggesting the presence of a mitotic......-like apparatus in prokaryotes. The identification of chromosomal homologues of the well-characterized plasmid partitioning genes indicates that there could be a general mechanism of bacterial DNA partitioning. Udgivelsesdato: July 1...

  10. Fetal calcifications are associated with chromosomal abnormalities.

    Directory of Open Access Journals (Sweden)

    Ellika Sahlin

    Full Text Available The biological importance of calcifications occasionally noted in fetal tissues (mainly liver at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001. The most frequent aberrations among cases included trisomy 21 (33%, trisomy 18 (22%, and monosomy X (18%. A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004. Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001.The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer

  11. Assembly of eukaryotic algal chromosomes in yeast


    Karas, Bogumil J.; Molparia, Bhuvan; Jablanovic, Jelena; Hermann, Wolfgang J; Lin, Ying-Chi; Dupont, Christopher L.; Tagwerker, Christian; Yonemoto, Isaac T.; Noskov, Vladimir N.; Chuang, Ray-Yuan; Allen, Andrew E; Glass, John I.; Hutchison, Clyde A; Smith, Hamilton O; Venter, J Craig


    Background Synthetic genomic approaches offer unique opportunities to use powerful yeast and Escherichia coli genetic systems to assemble and modify chromosome-sized molecules before returning the modified DNA to the target host. For example, the entire 1 Mb Mycoplasma mycoides chromosome can be stably maintained and manipulated in yeast before being transplanted back into recipient cells. We have previously demonstrated that cloning in yeast of large (> ~ 150 kb), high G + C (55%) prokaryoti...

  12. Female meiotic sex chromosome inactivation in chicken.

    Directory of Open Access Journals (Sweden)

    Sam Schoenmakers


    Full Text Available During meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (ZW, whereas males have the homogametic ZZ constitution. During chicken oogenesis, the heterologous ZW pair reaches a state of complete heterologous synapsis, and this might enable maintenance of transcription of Z- and W chromosomal genes during meiotic prophase. Herein, we show that the ZW pair is transiently silenced, from early pachytene to early diplotene using immunocytochemistry and gene expression analyses. We propose that ZW inactivation is most likely achieved via spreading of heterochromatin from the W on the Z chromosome. Also, persistent meiotic DNA double-strand breaks (DSBs may contribute to silencing of Z. Surprisingly, gammaH2AX, a marker of DSBs, and also the earliest histone modification that is associated with XY body formation in mammalian and marsupial spermatocytes, does not cover the ZW during the synapsed stage. However, when the ZW pair starts to desynapse, a second wave of gammaH2AX accumulates on the unsynapsed regions of Z, which also show a reappearance of the DSB repair protein RAD51. This indicates that repair of meiotic DSBs on the heterologous part of Z is postponed until late pachytene/diplotene, possibly to avoid recombination with regions on the heterologously synapsed W chromosome. Two days after entering diplotene, the Z looses gammaH2AX and shows reactivation. This is the first report of meiotic sex chromosome inactivation in a species with female heterogamety, providing evidence that this mechanism is not specific to spermatogenesis. It also indicates the presence of an evolutionary force that drives meiotic sex chromosome inactivation independent of the final achievement of synapsis.

  13. Detection of chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia

    Institute of Scientific and Technical Information of China (English)

    Shi Yun-fang; Shao Min-jie; Zhang Ying; Zhang Xiu-ling; Li Yan


    Objective:To investigate the chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia.Methods:Cytogenetic karyotype analysis and multiplex PCR were used to detect chromosomal abnormality and Y chromosome microdeletion in 99 azoospermic and 57 oligospermic patients(total 156).45 fertile men were includ-ed as controls.Results:31 patients were found with chromosomal abnormalities in 156 cases(31/156,19.9 %),20 cases showed 47,XXY,2 cases showed 46,XY/47,XXY,7 cases had Y chromosome structural abnormalities and 2 had autosomal chromosome abnormalities.There were significant differences between the frequency of AZF microde-letion in 125 cases with normal karyotype and 45 controls(P0.05).AZFa,AZFb,AZFa+b,AZFb+c,AZFa+b+d and AZFb+c+d mierodeletions were found in azoospermic patients.AZFb,AZFc,AZFd,AZFb+c+d and AZFc+d microdeletions were found in oligo-spermic patients.Conxlusion:The frequency of chromosomal abnormality was 19.9% and the frequency of Y chromosome mi-crodeletion was 15.2% in patient with azoospermia and oligozoospermia.We should pay close attention to this prob-lem.

  14. Neo-sex chromosomes of Ronderosia bergi: insight into the evolution of sex chromosomes in grasshoppers. (United States)

    Palacios-Gimenez, O M; Marti, D A; Cabral-de-Mello, D C


    Sex chromosomes have evolved many times from morphologically identical autosome pairs, most often presenting several recombination suppression events, followed by accumulation of repetitive DNA sequences. In Orthoptera, most species have an X0♂ sex chromosome system. However, in the subfamily Melanoplinae, derived variants of neo-sex chromosomes (neo-XY♂ or neo-X1X2Y♂) emerged several times. Here, we examined the differentiation of neo-sex chromosomes in a Melanoplinae species with a neo-XY♂/XX♀ system, Ronderosia bergi, using several approaches: (i) classical cytogenetic analysis, (ii) mapping via fluorescent in situ hybridization of some selected repetitive DNA sequences and microdissected sex chromosomes, and (iii) immunolocalization of distinct histone modifications. The microdissected sex chromosomes were also used as sources for Polymerase chain reaction (PCR) amplification of RNA-coding multigene families, to study variants related to the sex chromosomes. Our data suggest that the R. bergi neo-Y has become differentiated after its formation by a Robertsonian translocation and inversions, and has accumulated repetitive DNA sequences. Interestingly, the ex autosomes incorporated into the neo-sex chromosomes retain some autosomal post-translational histone modifications, at least in metaphase I, suggesting that the establishment of functional modifications in neo-sex chromosomes is slower than their sequence differentiation.

  15. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    Energy Technology Data Exchange (ETDEWEB)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others


    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  16. Homomorphic sex chromosomes and the intriguing Y chromosome of Ctenomys rodent species (Rodentia, Ctenomyidae). (United States)

    Suárez-Villota, Elkin Y; Pansonato-Alves, José C; Foresti, Fausto; Gallardo, Milton H


    Unlike the X chromosome, the mammalian Y chromosome undergoes evolutionary decay resulting in small size. This sex chromosomal heteromorphism, observed in most species of the fossorial rodent Ctenomys, contrasts with the medium-sized, homomorphic acrocentric sex chromosomes of closely related C. maulinus and C. sp. To characterize the sequence composition of these chromosomes, fluorescent banding, self-genomic in situ hybridization, and fluorescent in situ hybridization with an X painting probe were performed on mitotic and meiotic plates. High molecular homology between the sex chromosomes was detected on mitotic material as well as on meiotic plates immunodetected with anti-SYCP3 and anti-γH2AX. The Y chromosome is euchromatic, poor in repetitive sequences and differs from the X by the loss of a block of pericentromeric chromatin. Inferred from the G-banding pattern, an inversion and the concomitant prevention of recombination in a large asynaptic region seems to be crucial for meiotic X chromosome inactivation. These peculiar findings together with the homomorphism of Ctenomys sex chromosomes are discussed in the light of the regular purge that counteracts Muller's ratchet and the probable mechanisms accounting for their origin and molecular homology.

  17. Application of chromosomal microdissection, polymerase chain reaction (PCR), and reverse chromosome painting in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang, N.; Xu, J.; Cedrone, E. [Univ. of Rochester School of Medicine, Rochester, NY (United States)


    De novo marker chromosomes have been found in about 0.04% of amniotic fluid cultures. The origin of these marker chromosomes is difficult to identify by routine chromosome banding analysis. In the present study, we applied microdissection, PCR, and reverse chromosome painting to two amniotic fluid cases with a karyotype of 47,XX,+mar, and 47,XX,+?i(9p), respectively. Fluorescence in situ hybridization of the biotin-labeled DNA probe generated from 5 copies of the dissected marker chromosomes was applied to the normal metaphase spreads and revealed that the marker originated from the p arm of chromosomes 14 and 22, while the ?i(9p) was actually i(4p). Reverse painting of the same probe to the metaphase spreads of the patients completely painted the marker chromosomes in question, which confirms the accuracy of the analysis. Our study provides an example of the application of chromosome microdissection and molecular cytogenetics in prenatal diagnosis for the identification of marker chromosomes unidentifiable by routine analysis.

  18. The chromosome as a dynamic structure of the cell nucleus

    Institute of Scientific and Technical Information of China (English)



    Out view of eukaryotic chromosomes is still very much dictated by the classic ideas of geneticists and cytologists considering the chromosome just as a vehicle for genes. This one-sided view of chromosomes may have been strongly influenced by the many cytological observations made on polytene chromosomes.

  19. Chromosomes in the genesis and progression of ependymomas

    DEFF Research Database (Denmark)

    Rogatto, S R; Casartelli, C; Rainho, C A;


    chromosomes in three cases. Structural rearrangements of chromosome 2 were a finding for all cases and involved loss of material at 2q32-34. Other structural chromosome abnormalities detected involved chromosomes 4, 6, 10, 11, 12, and X. We also reviewed data on 22 cases previously reported....

  20. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer;

    is a Fluorescent In Situ Hybridization, which is laborious and involves use of expensive reagents [1]. Here we present a label free technique for detection of chromosome translocations. As a proof of concept detection of chromosome translocation between chromosome 3 (Chr3) and chromosome 9 (Chr9) was chosen....

  1. Sex chromosome inactivation in the male. (United States)

    Yan, Wei; McCarrey, John R


    Mammalian females have two X chromosomes, while males have only one X plus a Y chromosome. In order to balance X-linked gene dosage between the sexes, one X chromosome undergoes inactivation during development of female embryos. This process has been termed X-chromosome inactivation (XCI). Inactivation of the single X chromosome also occurs in the male, but is transient and is confined to the late stages of first meiotic prophase during spermatogenesis. This phenomenon has been termed meiotic sex chromosome inactivation (MSCI). A substantial portion ( approximately 15-25%) of X-linked mRNA-encoding genes escapes XCI in female somatic cells. While no mRNA genes are known to escape MSCI in males, approximately 80% of X-linked miRNA genes have been shown to escape this process. Recent results have led to the proposal that the RNA interference mechanism may be involved in regulating XCI in female cells. We suggest that some MSCI-escaping miRNAs may play a similar role in regulating MSCI in male germ cells.

  2. Chromosome tips damaged in anaphase inhibit cytokinesis.

    Directory of Open Access Journals (Sweden)

    Norman M Baker

    Full Text Available Genome maintenance is ensured by a variety of biochemical sensors and pathways that repair accumulated damage. During mitosis, the mechanisms that sense and resolve DNA damage remain elusive. Studies have demonstrated that damage accumulated on lagging chromosomes can activate the spindle assembly checkpoint. However, there is little known regarding damage to DNA after anaphase onset. In this study, we demonstrate that laser-induced damage to chromosome tips (presumptive telomeres in anaphase of Potorous tridactylis cells (PtK2 inhibits cytokinesis. In contrast, equivalent irradiation of non-telomeric chromosome regions or control irradiations in either the adjacent cytoplasm or adjacent to chromosome tips near the spindle midzone during anaphase caused no change in the eventual completion of cytokinesis. Damage to only one chromosome tip caused either complete absence of furrow formation, a prolonged delay in furrow formation, or furrow regression. When multiple chromosome tips were irradiated in the same cell, the cytokinesis defects increased, suggesting a potential dose-dependent mechanism. These results suggest a mechanism in which dysfunctional telomeres inhibit mitotic exit.

  3. Evolutionary stability of sex chromosomes in snakes. (United States)

    Rovatsos, Michail; Vukić, Jasna; Lymberakis, Petros; Kratochvíl, Lukáš


    Amniote vertebrates possess various mechanisms of sex determination, but their variability is not equally distributed. The large evolutionary stability of sex chromosomes in viviparous mammals and birds was believed to be connected with their endothermy. However, some ectotherm lineages seem to be comparably conserved in sex determination, but previously there was a lack of molecular evidence to confirm this. Here, we document a stability of sex chromosomes in advanced snakes based on the testing of Z-specificity of genes using quantitative PCR (qPCR) across 37 snake species (our qPCR technique is suitable for molecular sexing in potentially all advanced snakes). We discovered that at least part of sex chromosomes is homologous across all families of caenophidian snakes (Acrochordidae, Xenodermatidae, Pareatidae, Viperidae, Homalopsidae, Colubridae, Elapidae and Lamprophiidae). The emergence of differentiated sex chromosomes can be dated back to about 60 Ma and preceded the extensive diversification of advanced snakes, the group with more than 3000 species. The Z-specific genes of caenophidian snakes are (pseudo)autosomal in the members of the snake families Pythonidae, Xenopeltidae, Boidae, Erycidae and Sanziniidae, as well as in outgroups with differentiated sex chromosomes such as monitor lizards, iguanas and chameleons. Along with iguanas, advanced snakes are therefore another example of ectothermic amniotes with a long-term stability of sex chromosomes comparable with endotherms.

  4. The genomics of plant sex chromosomes. (United States)

    Vyskot, Boris; Hobza, Roman


    Around six percent of flowering species are dioecious, with separate female and male individuals. Sex determination is mostly based on genetics, but morphologically distinct sex chromosomes have only evolved in a few species. Of these, heteromorphic sex chromosomes have been most clearly described in the two model species - Silene latifolia and Rumex acetosa. In both species, the sex chromosomes are the largest chromosomes in the genome. They are hence easily distinguished, can be physically separated and analyzed. This review discusses some recent experimental data on selected model dioecious species, with a focus on S. latifolia. Phylogenetic analyses show that dioecy in plants originated independently and repeatedly even within individual genera. A cogent question is whether there is genetic degeneration of the non-recombining part of the plant Y chromosome, as in mammals, and, if so, whether reduced levels of gene expression in the heterogametic sex are equalized by dosage compensation. Current data provide no clear conclusion. We speculate that although some transcriptome analyses indicate the first signs of degeneration, especially in S. latifolia, the evolutionary processes forming plant sex chromosomes in plants may, to some extent, differ from those in animals.

  5. Small Supernumerary Marker Chromosomes in Human Infertility. (United States)

    Armanet, Narjes; Tosca, Lucie; Brisset, Sophie; Liehr, Thomas; Tachdjian, Gérard


    Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database ( search. A total of 234 patients with infertility were identified as carriers of sSMC. All chromosomes, except chromosomes 10, 19 and the X, were involved in sSMC, and in 72% the sSMC originated from acrocentric chromosomes. Euchromatic imbalances were caused by the presence of sSMC in 30% of the cases. Putative genes have been identified in only 1.2% of sSMC associated with infertility. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. Further precise molecular and interphase-architecture studies on sSMC are needed in the future to characterize the relationship between this chromosomal anomaly and human infertility.

  6. Evolutionary stability of sex chromosomes in snakes (United States)

    Rovatsos, Michail; Vukić, Jasna; Lymberakis, Petros; Kratochvíl, Lukáš


    Amniote vertebrates possess various mechanisms of sex determination, but their variability is not equally distributed. The large evolutionary stability of sex chromosomes in viviparous mammals and birds was believed to be connected with their endothermy. However, some ectotherm lineages seem to be comparably conserved in sex determination, but previously there was a lack of molecular evidence to confirm this. Here, we document a stability of sex chromosomes in advanced snakes based on the testing of Z-specificity of genes using quantitative PCR (qPCR) across 37 snake species (our qPCR technique is suitable for molecular sexing in potentially all advanced snakes). We discovered that at least part of sex chromosomes is homologous across all families of caenophidian snakes (Acrochordidae, Xenodermatidae, Pareatidae, Viperidae, Homalopsidae, Colubridae, Elapidae and Lamprophiidae). The emergence of differentiated sex chromosomes can be dated back to about 60 Ma and preceded the extensive diversification of advanced snakes, the group with more than 3000 species. The Z-specific genes of caenophidian snakes are (pseudo)autosomal in the members of the snake families Pythonidae, Xenopeltidae, Boidae, Erycidae and Sanziniidae, as well as in outgroups with differentiated sex chromosomes such as monitor lizards, iguanas and chameleons. Along with iguanas, advanced snakes are therefore another example of ectothermic amniotes with a long-term stability of sex chromosomes comparable with endotherms. PMID:26702042

  7. Heteromorphic sex chromosomes: navigating meiosis without a homologous partner. (United States)

    Checchi, Paula M; Engebrecht, Joanne


    Accurate chromosome segregation during meiosis relies on homology between the maternal and paternal chromosomes. Yet by definition, sex chromosomes of the heterogametic sex lack a homologous partner. Recent studies in a number of systems have shed light on the unique meiotic behavior of heteromorphic sex chromosomes, and highlight both the commonalities and differences in divergent species. During meiotic prophase, the homology-dependent processes of pairing, synapsis, and recombination have been modified in many different ways to ensure segregation of heteromorphic sex chromosomes at the first meiotic division. Additionally, an almost universal feature of heteromorphic sex chromosomes during meiosis is transcriptional silencing, or meiotic sex chromosome inactivation, an essential process proposed to prevent expression of genes deleterious to meiosis in the heterogametic sex as well as to shield unpaired sex chromosomes from recognition by meiotic checkpoints. Comparative analyses of the meiotic behavior of sex chromosomes in nematodes, mammals, and birds reveal important conserved features as well as provide insight into sex chromosome evolution.

  8. Fluorescence imaging of chromosomal DNA using click chemistry (United States)

    Ishizuka, Takumi; Liu, Hong Shan; Ito, Kenichiro; Xu, Yan


    Chromosome visualization is essential for chromosome analysis and genetic diagnostics. Here, we developed a click chemistry approach for multicolor imaging of chromosomal DNA instead of the traditional dye method. We first demonstrated that the commercially available reagents allow for the multicolor staining of chromosomes. We then prepared two pro-fluorophore moieties that served as light-up reporters to stain chromosomal DNA based on click reaction and visualized the clear chromosomes in multicolor. We applied this strategy in fluorescence in situ hybridization (FISH) and identified, with high sensitivity and specificity, telomere DNA at the end of the chromosome. We further extended this approach to observe several basic stages of cell division. We found that the click reaction enables direct visualization of the chromosome behavior in cell division. These results suggest that the technique can be broadly used for imaging chromosomes and may serve as a new approach for chromosome analysis and genetic diagnostics.

  9. A Geometric Approach For Fully Automatic Chromosome Segmentation

    CERN Document Server

    Minaee, Shervin; Khalaj, Babak Hossein


    Chromosome segmentation is a fundamental task in human chromosome analysis. Most of previous methods for separation between touching chromosomes require human intervention. In this paper, a geometry based method is used for automatic chromosome segmentation. This method can be divided into two phases. In the first phase, chromosome clusters are detected using three geometric criteria and in the second phase chromosome clusters are separated using a proper cut line. However, most earlier methods do not work well with chromosome clusters that contain more than two chromosomes. Our method, on the other hand, has a high efficiency in separation of chromosome clusters in such scenarios. Another advantage of the proposed method is that it can easily apply to any type of images such as binary images. This is due to the fact that the proposed scheme uses the geometric features of chromosomes which are independent of the type of images. The performance of the proposed scheme is demonstrated on a database containing to...

  10. Fluorescence imaging of chromosomal DNA using click chemistry (United States)

    Ishizuka, Takumi; Liu, Hong Shan; Ito, Kenichiro; Xu, Yan


    Chromosome visualization is essential for chromosome analysis and genetic diagnostics. Here, we developed a click chemistry approach for multicolor imaging of chromosomal DNA instead of the traditional dye method. We first demonstrated that the commercially available reagents allow for the multicolor staining of chromosomes. We then prepared two pro-fluorophore moieties that served as light-up reporters to stain chromosomal DNA based on click reaction and visualized the clear chromosomes in multicolor. We applied this strategy in fluorescence in situ hybridization (FISH) and identified, with high sensitivity and specificity, telomere DNA at the end of the chromosome. We further extended this approach to observe several basic stages of cell division. We found that the click reaction enables direct visualization of the chromosome behavior in cell division. These results suggest that the technique can be broadly used for imaging chromosomes and may serve as a new approach for chromosome analysis and genetic diagnostics. PMID:27620982

  11. A Theatre Movement Bibliography, 1978 Edition. (United States)

    Norris, Lynne

    Reference materials that deal with various aspects of theater movement are grouped in this partially annotated bibliography under the following headings: anatomy, kinesiology, and physiology; combat and martial arts; integrated approaches to movement; mime; miscellaneous acting and movement approaches; movement notations systems; movement…

  12. Yarbus, Eye Movements, and Vision

    Directory of Open Access Journals (Sweden)

    Benjamin W Tatler


    Full Text Available The impact of Yarbus's research on eye movements was enormous following the translation of his book Eye Movements and Vision into English in 1967. In stark contrast, the published material in English concerning his life is scant. We provide a brief biography of Yarbus and assess his impact on contemporary approaches to research on eye movements. While early interest in his work focused on his study of stabilised retinal images, more recently this has been replaced with interest in his work on the cognitive influences on scanning patterns. We extended his experiment on the effect of instructions on viewing a picture using a portrait of Yarbus rather than a painting. The results obtained broadly supported those found by Yarbus.

  13. Sustainability of natural movement activity

    Directory of Open Access Journals (Sweden)

    Matthew Metzgar


    Full Text Available In recent years, there has been a focus on reducing energy consumption in commercial buildings as a means of increasing their sustainability. As part of this trend, various health clubs and fitness centers have been designed to lower consumption of resources such as electricity and water. However, energy consumption is just one part of sustainability, with human health and economic health also paramount. When all components of sustainability are analyzed, other forms of physical activity may possess higher levels of sustainability than traditional gym exercise. Natural movement activity consists of outdoor activity that replicates movements performed by ancient humans during the Paleolithic era. A full analysis of sustainability shows that natural movement activity consumes fewer resources and provides unique psychological and physical benefits compared with traditional indoor exercise.

  14. Movement in aesthetic form creation

    DEFF Research Database (Denmark)

    Thomsen, Bente Dahl


    This paper presents the good practice based experiences found when movement is used to strengthen form creation and to create flow in the process of artistic education. Faced with the design engineering students’ problems with creating forms with aesthetic statements, the experiences with movement...... inspired the thesis that the design engineers’ training in aesthetic form creation can be improved by integrating the movement potential into their education. The paper documents the on-going work on developing a model for embodied creation of form called ‘Somatechne model’. The study also identifies...... a lens to assess the students’ development of mind-body skills, known as ‘The Three Soma’. The Somatechne model also helps to identify the activity that gives the students the opportunity to develop their sensibility and thus aesthetic attention....

  15. Analysis of repetitive DNA in chromosomes by flow cytometry. (United States)

    Brind'Amour, Julie; Lansdorp, Peter M


    We developed a flow cytometry method, chromosome flow fluorescence in situ hybridization (FISH), called CFF, to analyze repetitive DNA in chromosomes using FISH with directly labeled peptide nucleic acid (PNA) probes. We used CFF to measure the abundance of interstitial telomeric sequences in Chinese hamster chromosomes and major satellite sequences in mouse chromosomes. Using CFF we also identified parental homologs of human chromosome 18 with different amounts of repetitive DNA.

  16. Healing of Broken Linear Dicentric Chromosomes in Yeast


    Haber, James E; Thorburn, Patricia C.


    In yeast, meiotic recombination between a linear chromosome III and a haploid-viable circular chromosome will yield a dicentric, tandemly duplicated chromosome. Spores containing apparently intact dicentric chromosomes were recovered from tetrads with three viable spores. The spore containing the dicentric inherited URA3 (part of the recombinant DNA used to join regions near the ends of the chromosome into a circle) as well as HML, HMR and MAL2 (located near the two ends of a linear but dele...

  17. Use of chromosome microdissection in fish molecular cytogenetics



    Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chro...

  18. Small supernumerary marker chromosomes (sSMC in humans; are there B chromosomes hidden among them

    Directory of Open Access Journals (Sweden)

    Ogilvie Caroline


    Full Text Available Abstract Background Small supernumerary marker chromosomes (sSMC and B-chromosomes represent a heterogeneous collection of chromosomes added to the typical karyotype, and which are both small in size. They may consist of heterochromatic and/or euchromatic material. Also a predominance of maternal transmission was reported for both groups. Even though sSMC and B-chromosomes show some similarity it is still an open question if B-chromosomes are present among the heterogeneous group of sSMC. According to current theories, sSMC would need drive, drift or beneficial effects to increase in frequency in order to become B chromosome. However, up to now no B-chromosomes were described in human. Results Here we provide first evidence and discuss, that among sSMC B-chromosomes might be hidden. We present two potential candidates which may already be, or may in future evolve into B chromosomes in human: (i sSMC cases where the marker is stainable only by DNA derived from itself; and (ii acrocentric-derived inverted duplication sSMC without associated clinical phenotype. Here we report on the second sSMC stainable exclusively by its own DNA and show that for acrocentric derived sSMC 3.9× more are familial cases than reported for other sSMC. Conclusion The majority of sSMC are not to be considered as B-chromosomes. Nonetheless, a minority of sSMC show similarities to B-chromosomes. Further studies are necessary to come to final conclusions for that problem.

  19. Movement Perception and Movement Production in Asperger's Syndrome (United States)

    Price, Kelly J.; Shiffrar, Maggie; Kerns, Kimberly A.


    To determine whether motor difficulties documented in Asperger's Syndrome (AS) are related to compromised visual abilities, this study examined perception and movement in response to dynamic visual environments. Fourteen males with AS and 16 controls aged 7-23 completed measures of motor skills, postural response to optic flow, and visual…

  20. Proprioceptive Control of Human Movement. The Human Movement Series. (United States)

    Dickinson, John

    Various research studies concerned with the feedback from proprioceptors which accompany movement and the way in which this information is relevant to the control of activity are brought together in this volume. It is intended for the use of those who have some basic knowledge of human anatomy and physiology as well as an acquaintance with…

  1. Molecular mapping of chromosomes 17 and X

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.


    Progress toward the construction of high density genetic maps of chromosomes 17 and X has been made by isolating and characterizing a relatively large set of polymorphic probes for each chromosome and using these probes to construct genetic maps. We have mapped the same polymorphic probes against a series of chromosome breakpoints on X and 17. The probes could be assigned to over 30 physical intervals on the X chromosome and 7 intervals on 17. In many cases, this process resulted in improved characterization of the relative locations of the breakpoints with respect to each other and the definition of new physical intervals. The strategy for isolation of the polymorphic clones utilized chromosome specific libraries of 1--15 kb segments from each of the two chromosomes. From these libraries, clones were screened for those detecting restriction fragment length polymorphisms. The markers were further characterized, the chromosomal assignments confirmed and in most cases segments of the original probes were subcloned into plasmids to produce probes with improved signal to noise ratios for use in the genetic marker studies. The linkage studies utilize the CEPH reference families and other well-characterized families in our collection which have been used for genetic disease linkage work. Preliminary maps and maps of portions of specific regions of 17 and X are provided. We have nearly completed a map of the 1 megabase Mycoplasma arthritidis genome by applying these techniques to a lambda phage library of its genome. We have found bit mapping to be an efficient means to organize a contiguous set of overlapping clones from a larger genome.

  2. Klinefelter syndrome and other sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Graham John M


    Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

  3. Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?


    Sergey Matveevsky; Irina Bakloushinskaya; Oxana Kolomiets


    Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂ ) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate sho...

  4. MDC1 directs chromosome-wide silencing of the sex chromosomes in male germ cells. (United States)

    Ichijima, Yosuke; Ichijima, Misako; Lou, Zhenkun; Nussenzweig, André; Camerini-Otero, R Daniel; Chen, Junjie; Andreassen, Paul R; Namekawa, Satoshi H


    Chromosome-wide inactivation is an epigenetic signature of sex chromosomes. The mechanism by which the chromosome-wide domain is recognized and gene silencing is induced remains unclear. Here we identify an essential mechanism underlying the recognition of the chromosome-wide domain in the male germline. We show that mediator of DNA damage checkpoint 1 (MDC1), a binding partner of phosphorylated histone H2AX (γH2AX), defines the chromosome-wide domain, initiates meiotic sex chromosome inactivation (MSCI), and leads to XY body formation. Importantly, MSCI consists of two genetically separable steps. The first step is the MDC1-independent recognition of the unsynapsed axis by DNA damage response (DDR) factors such as ataxia telangiectasia and Rad3-related (ATR), TOPBP1, and γH2AX. The second step is the MDC1-dependent chromosome-wide spreading of DDR factors to the entire chromatin. Furthermore, we demonstrate that, in somatic cells, MDC1-dependent amplification of the γH2AX signal occurs following replicative stress and is associated with transcriptional silencing. We propose that a common DDR pathway underlies both MSCI and the response of somatic cells to replicative stress. These results establish that the DDR pathway centered on MDC1 triggers epigenetic silencing of sex chromosomes in germ cells.

  5. Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions. (United States)

    Reynard, Louise N; Turner, James M A


    During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm (MSYq-) have increased spermatid expression of multicopy X and Y genes, and so represent a model for studying post-meiotic sex chromosome repression. Here, we show that the increase in sex chromosome transcription in spermatids from MSYq- mice affects not only multicopy but also single-copy XY genes, as well as an X-linked reporter gene. This increase in transcription is accompanied by specific changes in the sex chromosome histone code, including almost complete loss of H4K8Ac and reduction of H3K9me3 and CBX1. Together, these data show that an MSYq gene regulates sex chromosome gene expression as well as chromatin remodelling in spermatids.

  6. Tracking of chromosome dynamics in live Streptococcus pneumoniae reveals that transcription promotes chromosome segregation. (United States)

    Kjos, Morten; Veening, Jan-Willem


    Chromosome segregation is an essential part of the bacterial cell cycle but is poorly characterized in oval-shaped streptococci. Using time-lapse fluorescence microscopy and total internal reflection fluorescence microscopy, we have tracked the dynamics of chromosome segregation in live cells of the human pathogen Streptococcus pneumoniae. Our observations show that the chromosome segregation process last for two-thirds of the total cell cycle; the origin region segregates rapidly in the early stages of the cell cycle while nucleoid segregation finishes just before cell division. Previously we have demonstrated that the DNA-binding protein ParB and the condensin SMC promote efficient chromosome segregation, likely by an active mechanism. We now show that in the absence of SMC, cell division can occur over the unsegregated chromosomes. However, neither smc nor parB are essential in S. pneumoniae, suggesting the importance of additional mechanisms. Here we have identified the process of transcription as one of these mechanisms important for chromosome segregation in S. pneumoniae. Transcription inhibitors rifampicin and streptolydigin as well as mutants affected in transcription elongation cause chromosome segregation defects. Together, our results highlight the importance of passive (or indirect) processes such as transcription for chromosome segregation in oval-shaped bacteria.

  7. Tracking of chromosome dynamics in live Streptococcus pneumoniae reveals that transcription promotes chromosome segregation

    NARCIS (Netherlands)

    Kjos, Morten; Veening, Jan-Willem


    Chromosome segregation is an essential part of the bacterial cell cycle but is poorly characterized in oval-shaped streptococci. Using time-lapse fluorescence microscopy and total internal reflection fluorescence microscopy, we have tracked the dynamics of chromosome segregation in live cells of the

  8. Meiotic chromosomes and stages of sex chromosome evolution in fish: zebrafish, platyfish and guppy. (United States)

    Traut, W; Winking, H


    We describe SC complements and results from comparative genomic hybridization (CGH) on mitotic and meiotic chromosomes of the zebrafish Danio rerio, the platyfish Xiphophorus maculatus and the guppy Poecilia reticulata. The three fish species represent basic steps of sex chromosome differentiation: (1) the zebrafish with an all-autosome karyotype; (2) the platyfish with genetically defined sex chromosomes but no differentiation between X and Y visible in the SC or with CGH in meiotic and mitotic chromosomes; (3) the guppy with genetically and cytogenetically differentiated sex chromosomes. The acrocentric Y chromosomes of the guppy consists of a proximal homologous and a distal differential segment. The proximal segment pairs in early pachytene with the respective X chromosome segment. The differential segment is unpaired in early pachytene but synapses later in an 'adjustment' or 'equalization' process. The segment includes a postulated sex determining region and a conspicuous variable heterochromatic region whose structure depends on the particular Y chromosome line. CGH differentiates a large block of predominantly male-specific repetitive DNA and a block of common repetitive DNA in that region.

  9. Naturalistic arm movements during obstacle avoidance in 3D and the identification of movement primitives. (United States)

    Grimme, Britta; Lipinski, John; Schöner, Gregor


    By studying human movement in the laboratory, a number of regularities and invariants such as planarity and the principle of isochrony have been discovered. The theoretical idea has gained traction that movement may be generated from a limited set of movement primitives that would encode these invariants. In this study, we ask if invariants and movement primitives capture naturalistic human movement. Participants moved objects to target locations while avoiding obstacles using unconstrained arm movements in three dimensions. Two experiments manipulated the spatial layout of targets, obstacles, and the locations in the transport movement where an obstacle was encountered. We found that all movement trajectories were planar, with the inclination of the movement plane reflecting the obstacle constraint. The timing of the movement was consistent with both global isochrony (same movement time for variable path lengths) and local isochrony (same movement time for two components of the obstacle avoidance movement). The identified movement primitives of transport (movement from start to target position) and lift (movement perpendicular to transport within the movement plane) varied independently with obstacle conditions. Their scaling accounted for the observed double peak structure of movement speed. Overall, the observed naturalistic movement was astoundingly regular. Its decomposition into primitives suggests simple mechanisms for movement generation.

  10. Selection and fine mapping of chromosome-specific cDNAs: application to human chromosome 1. (United States)

    Mancini, M; Sala, C; Rivella, S; Toniolo, D


    We have developed a methodology for identification and fine mapping of chromosome-specific transcripts. Combining digestion of DNA with different restriction enzymes, ligation to "bubble" linkers, and PCR amplification from Alu and "bubble" primers, we have synthesized human chromosome 1-specific sequences from DNA of a somatic cell hybrid, A9Neol. After hybridization to human fetal brain cDNA, we could efficiently capture chromosome 1-specific cDNAs. The cDNAs were sequenced and used as probes in hybridizations to high-density filters containing the arrayed CEPH Mega-YAC library and to the arrayed cDNA library from infant brain made by B. Soares, which has been extensively sequenced. By this approach we have been able to select chromosome 1-specific cDNAs, to map them to chromosome 1 YAC contigs, and to identify and map corresponding longer cDNAs and ESTs.

  11. Neo-sex chromosomes in the black muntjac recapitulate incipient evolution of mammalian sex chromosomes

    DEFF Research Database (Denmark)

    Zhou, Qi; Wang, Jun; Huang, Ling


    SNX22 abolished a microRNA target site. Finally, expression analyses revealed complex patterns of expression divergence between neo-Y and neo-X alleles. CONCLUSION: The nascent neo-sex chromosome system of black muntjacs is a valuable model in which to study the evolution of sex chromosomes in mammals......BACKGROUND: The regular mammalian X and Y chromosomes diverged from each other at least 166 to 148 million years ago, leaving few traces of their early evolution, including degeneration of the Y chromosome and evolution of dosage compensation. RESULTS: We studied the intriguing case of black...... muntjac, in which a recent X-autosome fusion and a subsequent large autosomal inversion within just the past 0.5 million years have led to inheritance patterns identical to the traditional X-Y (neo-sex chromosomes). We compared patterns of genome evolution in 35-kilobase noncoding regions and 23 gene...

  12. Women's Movements and Human Futures (United States)

    Reardon, Betty


    Two strands of futurism share values of equality, development, and peace, and can catalyze each other into potentially transformational forces. The path is re-education: World order thinking provides an appropriate content for adult learning, and women's movements provide the energy of commitment and a worldwide network for communicating policies.…

  13. Constraint-induced movement therapy

    DEFF Research Database (Denmark)

    Castellini, Greta; Gianola, Silvia; Banzi, Rita;


    on randomized controlled trials (RCTs) included in a Cochrane systematic review on the effectiveness of constraint-induced movement therapy (CIMT) for stroke patients. METHODS: We extracted data on the functional independence measure (FIM) and the action research arm test (ARAT) from RCTs that compared CIMT...

  14. Camera Movement in Narrative Cinema

    DEFF Research Database (Denmark)

    Nielsen, Jakob Isak


    Just like art historians have focused on e.g. composition or lighting, this dissertation takes a single stylistic parameter as its object of study: camera movement. Within film studies this localized avenue of middle-level research has become increasingly viable under the aegis of a perspective k...

  15. Fetal onset of general movements

    NARCIS (Netherlands)

    Luechinger, Annemarie B.; Hadders-Algra, Mijna; Van Kan, Colette M.; de Vries, JIP


    Perinatal qualitative assessment of general movements (GMs) is a tool to evaluate the integrity of the young nervous system. The aim of this investigation was to study the emergence of GMs. Fetal onset of GMs was studied sonographically in 18 fetuses during the first trimester of uncomplicated in vi

  16. Poems from the Occupy Movement

    Directory of Open Access Journals (Sweden)

    Pam Annas


    Full Text Available From the beginning of the Occupy Movement, poetry has occupied a major supporting role.  Both the New York and Boston encampments immediately set up a library tent, and poetry readings were a regular part of the camp’s activities.




  18. Sex differences in Parkinson's disease and other movement disorders. (United States)

    Smith, Kara M; Dahodwala, Nabila


    Movement disorders including Parkinson's disease (PD), Huntington's disease (HD), chorea, tics, and Tourette's syndrome (TS) display sex differences in disease susceptibility, disease pathogenesis, and clinical presentation. PD is more common in males than in females. Epidemiologic studies suggest that exposure to endogenous and exogenous estrogen contributes to these sex differences. There is extensive evidence that estrogen prevents dopaminergic neuron depletion induced by neurotoxins in PD animal models and therefore is neuroprotective. Estrogen may also decrease the efficacy of other neuroprotective substances such as caffeine in females but not males. Sex chromosomes can exert effects independent of sex steroid hormones on the development and maintenance of the dopamine system. As a result of hormone, chromosome and other unknown effects, there are sexual dimorphisms in the basal ganglia, and at the molecular levels in dopaminergic neurons that may lead to distinct mechanisms of pathogenesis in males and females. In this review, we summarize the evidence that estrogen and selective estrogen receptor modulators are neuroprotective in PD and discuss potential mechanisms of action. We also briefly review how sex differences in basal ganglia function and dopaminergic pathways may impact HD, chorea, and tics/Tourette's syndrome. Further understanding of these sex differences may lead to novel therapeutic strategies for prevention and treatment of these diseases.

  19. Chromosome 10q tetrasomy: First reported case

    Energy Technology Data Exchange (ETDEWEB)

    Blackston, R.D.; May, K.M.; Jones, F.D. [Emory Univ., Atlanta, GA (United States)] [and others


    While there are several reports of trisomy 10q (at least 35), we are not aware of previous cases of 10q tetrasomy. We present what we believe to be the initial report of such a case. R.J. is a 6 1/2 year old white male who presented with multiple dysmorphic features, marked articulation problems, hyperactivity, and developmental delays. He is the product of a term uncomplicated pregnancy. There was a normal spontaneous vaginal delivery with a birth weight of 6 lbs. 4oz. and length was 19 1/2 inch. Dysmorphic features include small size, an asymmetrically small head, low set ears with overfolded helixes, bilateral ptosis, downslanting eyes, right eye esotropia, prominent nose, asymmetric facies, high palate, mild pectus excavatum deformity of chest, and hyperextensible elbow joints. The patient is in special needs classes for mildly mentally handicapped students. Chromosome analysis at a resolution of 800 bands revealed a complex rearrangement of chromosomes 10 and 11. The segment 10q25.3 to q16.3 appears to be inverted and duplicated within the long arm of chromosome 10 at band q25.3 and the same segment of chromosome 10 is present on the terminal end of the short arm of chromosome 11. There is no visible loss of material from chromosome 11. Fluorescence in situ hybridization was performed with a chromosome 10 specific {open_quotes}paint{close_quotes} to confirm that all of the material on the abnormal 10 and the material on the terminal short arm of 11 was from chromosome 10. Thus, it appears that the segment 10q25.3 to q26.3 is present in four copies. Parental chromosome studies are normal. We compared findings which differ in that the case of 10q tetrasomy did not have prenatal growth deficiency, microphthalmia, cleft palate, digital anomalies, heart, or renal defects. Whereas most cases of 10q trisomy are said to have severe mental deficiency, our case of 10q tetrasomy was only mildly delayed. We report this first apparent cited case of 10q tetrasomy.

  20. Origin of B chromosomes in the genus Astyanax (Characiformes, Characidae) and the limits of chromosome painting. (United States)

    de A Silva, Duílio M Z; Daniel, Sandro Natal; Camacho, Juan Pedro M; Utsunomia, Ricardo; Ruiz-Ruano, Francisco J; Penitente, Manolo; Pansonato-Alves, José Carlos; Hashimoto, Diogo Teruo; Oliveira, Claudio; Porto-Foresti, Fábio; Foresti, Fausto


    Eukaryote genomes are frequently burdened with the presence of supernumerary (B) chromosomes. Their origin is frequently investigated by chromosome painting, under the hypothesis that sharing the repetitive DNA sequences contained in the painting probes is a sign of common descent. However, the intragenomic mobility of many anonymous DNA sequences contained in these probes (e.g., transposable elements) adds high uncertainty to this conclusion. Here we test the validity of chromosome painting to investigate B chromosome origin by comparing its results for seven B chromosome types in two fish species genus Astyanax, with those obtained (1) by means of the physical mapping of 18S ribosomal DNA (rDNA), H1 histone genes, the As51 satellite DNA and the (AC)15 microsatellite, and (2) by comparing the nucleotide sequence of one of these families (ITS regions from ribosomal DNA) between genomic DNA from B-lacking individuals in both species and the microdissected DNA from two metacentric B chromosomes found in these same species. Intra- and inter-specific painting suggested that all B chromosomes that were assayed shared homologous DNA sequences among them, as well as with a variable number of A chromosomes in each species. This finding would be consistent with a common origin for all seven B chromosomes analyzed. By contrast, the physical mapping of repetitive DNA sequences failed to give support to this hypothesis, as no more than two B-types shared a given repetitive DNA. Finally, sequence analysis of the ITS regions suggested that at least some of the B chromosomes could have had a common origin.

  1. Quantified effects of chromosome-nuclear envelope attachments on 3D organization of chromosomes. (United States)

    Kinney, Nicholas Allen; Onufriev, Alexey V; Sharakhov, Igor V


    We use a combined experimental and computational approach to study the effects of chromosome-nuclear envelope (Chr-NE) attachments on the 3D genome organization of Drosophila melanogaster (fruit fly) salivary gland nuclei. We consider 3 distinct models: a Null model - without specific Chr-NE attachments, a 15-attachment model - with 15 previously known Chr-NE attachments, and a 48-attachment model - with 15 original and 33 recently identified Chr-NE attachments. The radial densities of chromosomes in the models are compared to the densities observed in 100 experimental images of optically sectioned salivary gland nuclei forming "z-stacks." Most of the experimental z-stacks support the Chr-NE 48-attachment model suggesting that as many as 48 chromosome loci with appreciable affinity for the NE are necessary to reproduce the experimentally observed distribution of chromosome density in fruit fly nuclei. Next, we investigate if and how the presence and the number of Chr-NE attachments affect several key characteristics of 3D genome organization: chromosome territories and gene-gene contacts. This analysis leads to novel insight about the possible role of Chr-NE attachments in regulating the genome architecture. Specifically, we find that model nuclei with more numerous Chr-NE attachments form more distinct chromosome territories and their chromosomes intertwine less frequently. Intra-chromosome and intra-arm contacts are more common in model nuclei with Chr-NE attachments compared to the Null model (no specific attachments), while inter-chromosome and inter-arm contacts are less common in nuclei with Chr-NE attachments. We demonstrate that Chr-NE attachments increase the specificity of long-range inter-chromosome and inter-arm contacts. The predicted effects of Chr-NE attachments are rationalized by intuitive volume vs. surface accessibility arguments.

  2. Chromosomal polymorphism in the Sporothrix schenckii complex. (United States)

    Sasaki, Alexandre A; Fernandes, Geisa F; Rodrigues, Anderson M; Lima, Fábio M; Marini, Marjorie M; Dos S Feitosa, Luciano; de Melo Teixeira, Marcus; Felipe, Maria Sueli Soares; da Silveira, José Franco; de Camargo, Zoilo P


    Sporotrichosis is a polymorphic disease caused by a complex of thermodimorphic fungi including S. brasiliensis, S. schenckii sensu stricto (s. str.), S. globosa and S. luriei. Humans and animals can acquire the disease through traumatic inoculation of propagules into the subcutaneous tissue. Despite the importance of sporotrichosis as a disease that can take epidemic proportions there are just a few studies dealing with genetic polymorphisms and genomic architecture of these pathogens. The main objective of this study was to investigate chromosomal polymorphisms and genomic organization among different isolates in the S. schenckii complex. We used pulsed field gel electrophoresis (PFGE) to separate chromosomal fragments of isolated DNA, followed by probe hybridization. Nine loci (β-tubulin, calmodulin, catalase, chitin synthase 1, Internal Transcribed Spacer, Pho85 cyclin-dependent kinase, protein kinase C Ss-2, G protein α subunit and topoisomerase II) were mapped onto chromosomal bands of Brazilian isolates of S. schenckii s. str. and S. brasiliensis. Our results revealed the presence of intra and interspecies polymorphisms in chromosome number and size. The gene hybridization analysis showed that closely related species in phylogenetic analysis had similar genetic organizations, mostly due to identification of synteny groups in chromosomal bands of similar sizes. Our results bring new insights into the genetic diversity and genome organization among pathogenic species in the Sporothrix schenckii complex.

  3. Assembly and disassembly of mammalian chromosome pellicle

    Institute of Scientific and Technical Information of China (English)



    By means of indirect double immunofluorescent staining,the coordination of PI antigen and perichromonucleolin(PCN),the constituent of nuclear periphery and nucleolus respectively,in the assembly and disassembly of chromosome pellicle during mitosis was studied.It was found that in 3T3 cells,during mitosis PI antigen began to coat the condensing chromosome surface earlier than PCN did.However,both of them completed their coating on chromosome at approximately the same stage of mitosis,prometaphase metaphase,The dissociation of mitosis,Prometaphase metaphase.The dissociation of PI antigen from chromosome pellicle to participate the formation of nuclear periphery took place also ahead of that of PCN,At early telophase PI antigen had been extensively involved in the formation of nuclear periphery,while PCN remained in association with the surface of decondensing chromosomes.At late telophase,when PI antigen was localized in an fairly well formed nuclear periphery,PCN was in a stage of forming prenucleolar bodies.

  4. Evolution and survival on eutherian sex chromosomes.

    Directory of Open Access Journals (Sweden)

    Melissa A Wilson


    Full Text Available Since the two eutherian sex chromosomes diverged from an ancestral autosomal pair, the X has remained relatively gene-rich, while the Y has lost most of its genes through the accumulation of deleterious mutations in nonrecombining regions. Presently, it is unclear what is distinctive about genes that remain on the Y chromosome, when the sex chromosomes acquired their unique evolutionary rates, and whether X-Y gene divergence paralleled that of paralogs located on autosomes. To tackle these questions, here we juxtaposed the evolution of X and Y homologous genes (gametologs in eutherian mammals with their autosomal orthologs in marsupial and monotreme mammals. We discovered that genes on the X and Y acquired distinct evolutionary rates immediately following the suppression of recombination between the two sex chromosomes. The Y-linked genes evolved at higher rates, while the X-linked genes maintained the lower evolutionary rates of the ancestral autosomal genes. These distinct rates have been maintained throughout the evolution of X and Y. Specifically, in humans, most X gametologs and, curiously, also most Y gametologs evolved under stronger purifying selection than similarly aged autosomal paralogs. Finally, after evaluating the current experimental data from the literature, we concluded that unique mRNA/protein expression patterns and functions acquired by Y (versus X gametologs likely contributed to their retention. Our results also suggest that either the boundary between sex chromosome strata 3 and 4 should be shifted or that stratum 3 should be divided into two strata.

  5. Chromosome analysis and sorting using flow cytometry. (United States)

    Doležel, Jaroslav; Kubaláková, Marie; Cíhalíková, Jarmila; Suchánková, Pavla; Simková, Hana


    Chromosome analysis and sorting using flow cytometry (flow cytogenetics) is an attractive tool for fractionating plant genomes to small parts. The reduction of complexity greatly simplifies genetics and genomics in plant species with large genomes. However, as flow cytometry requires liquid suspensions of particles, the lack of suitable protocols for preparation of solutions of intact chromosomes delayed the application of flow cytogenetics in plants. This chapter outlines a high-yielding procedure for preparation of solutions of intact mitotic chromosomes from root tips of young seedlings and for their analysis using flow cytometry and sorting. Root tips accumulated at metaphase are mildly fixed with formaldehyde, and solutions of intact chromosomes are prepared by mechanical homogenization. The advantages of the present approach include the use of seedlings, which are easy to handle, and the karyological stability of root meristems, which can be induced to high degree of metaphase synchrony. Chromosomes isolated according to this protocol have well-preserved morphology, withstand shearing forces during sorting, and their DNA is intact and suitable for a range of applications.

  6. Chromosome-specific DNA Repeat Probes

    Energy Technology Data Exchange (ETDEWEB)

    Baumgartner, Adolf; Weier, Jingly Fung; Weier, Heinz-Ulrich G.


    In research as well as in clinical applications, fluorescence in situ hybridization (FISH) has gained increasing popularity as a highly sensitive technique to study cytogenetic changes. Today, hundreds of commercially available DNA probes serve the basic needs of the biomedical research community. Widespread applications, however, are often limited by the lack of appropriately labeled, specific nucleic acid probes. We describe two approaches for an expeditious preparation of chromosome-specific DNAs and the subsequent probe labeling with reporter molecules of choice. The described techniques allow the preparation of highly specific DNA repeat probes suitable for enumeration of chromosomes in interphase cell nuclei or tissue sections. In addition, there is no need for chromosome enrichment by flow cytometry and sorting or molecular cloning. Our PCR-based method uses either bacterial artificial chromosomes or human genomic DNA as templates with {alpha}-satellite-specific primers. Here we demonstrate the production of fluorochrome-labeled DNA repeat probes specific for human chromosomes 17 and 18 in just a few days without the need for highly specialized equipment and without the limitation to only a few fluorochrome labels.

  7. Function of the sex chromosomes in mammalian fertility. (United States)

    Heard, Edith; Turner, James


    The sex chromosomes play a highly specialized role in germ cell development in mammals, being enriched in genes expressed in the testis and ovary. Sex chromosome abnormalities (e.g., Klinefelter [XXY] and Turner [XO] syndrome) constitute the largest class of chromosome abnormalities and the commonest genetic cause of infertility in humans. Understanding how sex-gene expression is regulated is therefore critical to our understanding of human reproduction. Here, we describe how the expression of sex-linked genes varies during germ cell development; in females, the inactive X chromosome is reactivated before meiosis, whereas in males the X and Y chromosomes are inactivated at this stage. We discuss the epigenetics of sex chromosome inactivation and how this process has influenced the gene content of the mammalian X and Y chromosomes. We also present working models for how perturbations in sex chromosome inactivation or reactivation result in subfertility in the major classes of sex chromosome abnormalities.

  8. [DNA image-fluorimetry of individual human chromosomes]. (United States)

    Agafonova, N A; Sakuta, G A; Rozanov, Iu M; Shteĭn, G I; Kudriavtsev, B N


    Mucrofluorimetric method for the determination of DNA content in individual human chromosomes has been developed. The method is based on a preliminary identification of chromosomes with Hoechst 33258, followed by staining of the chromosomes with Feulgen reaction using Schiffs reagent type ethidium bromide-SO2, then measuring the fluorescence intensity of the chromosomes using an image analyzer. The method allows to determine the DNA content of individual chromosomes with accuracy up to 4.5 fg. DNA content of individual human chromosomes, their p-and q-arms as well as homologous chromosomes were measured using the developed method. It has been shown that the DNA content in the chromosomes of normal human karyotype is unstable. Fluctuations in the DNA content in some chromosomes can vary 35-40 fg.

  9. Phylogeny and chromosomal diversification in the Dichroplus elongatus species group (Orthoptera, Melanoplinae) (United States)

    Taffarel, Alberto; Maronna, Maximiliano M.; Cigliano, María Marta; Palacios-Gimenez, Octavio M.; Cabral-de-Mello, Diogo C.; Martí, Dardo A.


    In an attempt to track the chromosomal differentiation in the Dichroplus elongatus species group, we analyzed the karyotypes of four species with classical cytogenetic and mapping several multigene families through fluorescent in situ hybridization (FISH). We improved the taxon sampling of the D. elongatus species group adding new molecular data to infer the phylogeny of the genus and reconstruct the karyotype evolution. Our molecular analyses recovered a fully resolved tree with no evidence for the monophyly of Dichroplus. However, we recovered several stable clades within the genus, including the D. elongatus species group, under the different strategies of tree analyses (Maximum Parsimony and Maximum Likelihood). The chromosomal data revealed minor variation in the D. elongatus species group’s karyotypes caused by chromosome rearrangements compared to the phylogenetically related D. maculipennis species group. The karyotypes of D. intermedius and D. exilis described herein showed the standard characteristics found in most Dichroplini, 2n = 23/24, X0♂ XX♀, Fundamental number (FN) = 23/24. However, we noticed two established pericentric inversions in D. intermedius karyotype, raising the FN to 27♂/28♀. A strong variation in the heterochromatic blocks distribution was evidenced at interespecific level. The multigene families’ mapping revealed significant variation, mainly in rDNA clusters. These variations are probably caused by micro chromosomal changes, such as movement of transposable elements (TEs) and ectopic recombination. These observations suggest a high genomic dynamism for these repetitive DNA sequences in related species. The reconstruction of the chromosome character “variation in the FN” posits the FN = 23/24 as the ancestral state, and it is hypothesized that variations due to pericentric inversions has arisen independently three times in the evolutionary history of Dichroplus. One of these independent events occurred in the D

  10. Strategies for sequencing human chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Sutherland, G.R.


    This project funded for four years (02.92 to 01.96) was a renewal of a project funded for 2.5 years (07.89 to 01.92). This report covers the period 07.89 to 07.94. The original project was entitled {open_quotes}Correlation of physical and genetic maps of Human Chromosome 16{close_quotes}. The aim over this period was to construct a cytogenetic-based physical map of chromosome 16, to enable integration of its physical and genetic maps. This was achieved by collaboration and isolation of new markers until each bin on the physical map contained a polymorphic marker on the linkage map. A further aim was to integrate all mapping data for this chromosome and to achieve contig closure over band q24.

  11. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)


    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  12. Are chromosomal imbalances important in cancer? (United States)

    Stallings, Raymond L


    Tumor-specific patterns of large-scale chromosomal imbalances characterize most forms of cancer. Based on evidence primarily from neuroblastomas, it can be argued that large-scale chromosomal imbalances are crucial for tumor pathogenesis and have an impact on the global transcriptional profile of cancer cells, and that some imbalances even initiate cancer. The genes and genetic pathways that have been dysregulated by such imbalances remain surprisingly elusive. Many genes are affected by the regions of gain and loss, and there are complex interactions and relationships that occur between these genes, hindering their identification. The study of untranslated RNA sequences, such as microRNAs, is in its infancy, and it is likely that such sequences are also dysregulated by chromosomal imbalance, contributing to pathogenesis.

  13. The complete sequence of human chromosome 5

    Energy Technology Data Exchange (ETDEWEB)

    Schmutz, Jeremy; Martin, Joel; Terry, Astrid; Couronne, Olivier; Grimwood, Jane; Lowry, State; Gordon, Laurie A.; Scott, Duncan; Xie, Gary; Huang, Wayne; Hellsten, Uffe; Tran-Gyamfi, Mary; She, Xinwei; Prabhakar, Shyam; Aerts, Andrea; Altherr, Michael; Bajorek, Eva; Black, Stacey; Branscomb, Elbert; Caoile, Chenier; Challacombe, Jean F.; Chan, Yee Man; Denys, Mirian; Detter, Chris; Escobar, Julio; Flowers, Dave; Fotopulos, Dea; Glavina, Tijana; Gomez, Maria; Gonzales, Eidelyn; Goodstenin, David; Grigoriev, Igor; Groza, Matthew; Hammon, Nancy; Hawkins, Trevor; Haydu, Lauren; Israni, Sanjay; Jett, Jamie; Kadner, Kristen; Kimbal, Heather; Kobayashi, Arthur; Lopez, Frederick; Lou, Yunian; Martinez, Diego; Medina, Catherine; Morgan, Jenna; Nandkeshwar, Richard; Noonan, James P.; Pitluck, Sam; Pollard, Martin; Predki, Paul; Priest, James; Ramirez, Lucia; Rash, Sam; Retterer, James; Rodriguez, Alex; Rogers, Stephanie; Salamov, Asaf; Salazar, Angelica; Thayer, Nina; Tice, Hope; Tsai, Ming; Ustaszewska, Anna; Vo, Nu; Wheeler, Jeremy; Wu, Kevin; Yang, Joan; Dickson, Mark; Cheng, Jan-Fang; Eichler, Evan E.; Olsen, Anne; Pennacchio, Len A.; Rokhsar, Daniel S.; Richardson, Paul; Lucas, Susan M.; Myers, Richard M.; Rubin, Edward M.


    Chromosome 5 is one of the largest human chromosomes yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-encoding genes including the protocadherin and interleukin gene families and the first complete versions of each of the large chromosome 5 specific internal duplications. These duplications are very recent evolutionary events and play a likely mechanistic role, since deletions of these regions are the cause of debilitating disorders including spinal muscular atrophy (SMA).

  14. Chromosomal Instability Confers Intrinsic Multidrug Resistance

    DEFF Research Database (Denmark)

    Lee, Alvin J. X.; Endesfelder, David; Rowan, Andrew J.


    their diploid parental cells only with increasing chromosomal heterogeneity and isogenic cell line models of CIN+ displayed multidrug resistance relative to their CIN- parental cancer cell line derivatives. In a meta-analysis of CRC outcome following cytotoxic treatment, CIN+ predicted worse progression......-free or disease-free survival relative to patients with CIN- disease. Our results suggest that stratifying tumor responses according to CIN status should be considered within the context of clinical trials to minimize the confounding effects of tumor CIN status on drug sensitivity. Cancer Res; 71(5); 1858-70. (c......Aneuploidy is associated with poor prognosis in solid tumors. Spontaneous chromosome missegregation events in aneuploid cells promote chromosomal instability (CIN) that may contribute to the acquisition of multidrug resistance in vitro and heighten risk for tumor relapse in animal models...

  15. Origin of extra chromosome in Patau syndrome. (United States)

    Ishikiriyama, S; Niikawa, N


    Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome had originated in nondisjunction at the maternal first meiotic division in two patients, at the maternal second meiosis in other two, and at the paternal first meiosis in the remaining one. Summarizing the results of the present study, together with those of the previous studies on a liveborn and abortuses with trisomy 13, nondisjunction at the maternal and the paternal meiosis occurred in this trisomy in the ratio of 14:3. This ratio is not statistically different from that inferred from the previous studies for Down syndrome. These findings suggest that there may be a fundamental mechanism common to the occurrence of nondisjunction in the acrocentric trisomies.

  16. Movement planning of video and of manual aiming movements. (United States)

    Bédard, Patrick; Proteau, Luc


    We studied aiming performance of adults for video- and manual aiming tasks when they had visual information about the location of the starting base or when they had not. In video-aiming, foveating the starting base and then the target prior to movement initiation (Foveation) resulted in less aiming bias and variability than when the starting base was not visible (PNV), or visible without the participants foveating it prior to movement initiation (PSV). In manual aiming, Foveation and PSV procedures resulted in identical results but reduced aiming bias and variability in comparison to the PNV procedures. The results indicate that participants had difficulty in transforming the locations of the starting base and of the target when seen on a vertical screen into an appropriate movement trajectory. Successive foveation of the starting base and of the target facilitated this transformation, resulting in direction variability being reduced by more than half in comparison to the PNV and PSV conditions. This suggests that in video-aiming the efference copy of the saccade can be used by the CNS to approximate the hand trajectory in the workspace and/or in joint coordinates (Jouffrais and Boussaoud, 1999). Hand trajectory could be readily available in manual aiming if the target location can be recoded directly in hand-coordinates as recently suggested by Buneo et al. (2002).

  17. Early Christian movements: Jesus movements and the renewal of Israel

    Directory of Open Access Journals (Sweden)

    Richard A. Horsley


    Full Text Available This article investigates the origins and development of the earliest Jesus movements within the context of persistent conflict between the Judean and Galilean peasantry and their Jerusalem and Roman rulers. It explores the prominence of popular prophetic and messianic movements and shows how the earliest movements that formed in response to Jesus’ mission exhibit similar features and patterns. Jesus is not treated as separate from social roles and political-economic relationships. Viewing Jesus against the background of village communities in which people lived, the Gospels are understood as genuine communication with other people in historical social contexts. The article argues that the net effect of these interrelated factors of theologically determined New Testament interpretation is a combination of assumptions and procedures that would be unacceptable in the regular investigation of history. Another version of the essay was published in Horsley, Richard A (ed, A people’s history of Christianity, Volume 1: Christian origins, 23-46. Minneapolis, MN: Fortress.

  18. Eye-movements and ongoing task processing. (United States)

    Burke, David T; Meleger, Alec; Schneider, Jeffrey C; Snyder, Jim; Dorvlo, Atsu S S; Al-Adawi, Samir


    This study tests the relation between eye-movements and thought processing. Subjects were given specific modality tasks (visual, gustatory, kinesthetic) and assessed on whether they responded with distinct eye-movements. Some subjects' eye-movements reflected ongoing thought processing. Instead of a universal pattern, as suggested by the neurolinguistic programming hypothesis, this study yielded subject-specific idiosyncratic eye-movements across all modalities. Included is a discussion of the neurolinguistic programming hypothesis regarding eye-movements and its implications for the eye-movement desensitization and reprocessing theory.

  19. Human male meiotic sex chromosome inactivation. (United States)

    de Vries, Marieke; Vosters, Sanne; Merkx, Gerard; D'Hauwers, Kathleen; Wansink, Derick G; Ramos, Liliana; de Boer, Peter


    In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI), which has been studied best in mice. Post-meiotically this repression is largely maintained. Disturbance of MSCI in mice leads to harmful X,Y gene expression, eventuating in spermatocyte death and sperm heterogeneity. Sperm heterogeneity is a characteristic of the human male. For this reason we were interested in the efficiency of MSCI in human primary spermatocytes. We investigated MSCI in pachytene spermatocytes of seven probands: four infertile men and three fertile controls, using direct and indirect in situ methods. A considerable degree of variation in the degree of MSCI was detected, both between and within probands. Moreover, in post-meiotic stages this variation was observed as well, indicating survival of spermatocytes with incompletely inactivated sex chromosomes. Furthermore, we investigated the presence of H3K9me3 posttranslational modifications on the X and Y chromatin. Contrary to constitutive centromeric heterochromatin, this heterochromatin marker did not specifically accumulate on the XY body, with the exception of the heterochromatic part of the Y chromosome. This may reflect the lower degree of MSCI in man compared to mouse. These results point at relaxation of MSCI, which can be explained by genetic changes in sex chromosome composition during evolution and candidates as a mechanism behind human sperm heterogeneity.

  20. Human male meiotic sex chromosome inactivation.

    Directory of Open Access Journals (Sweden)

    Marieke de Vries

    Full Text Available In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI, which has been studied best in mice. Post-meiotically this repression is largely maintained. Disturbance of MSCI in mice leads to harmful X,Y gene expression, eventuating in spermatocyte death and sperm heterogeneity. Sperm heterogeneity is a characteristic of the human male. For this reason we were interested in the efficiency of MSCI in human primary spermatocytes. We investigated MSCI in pachytene spermatocytes of seven probands: four infertile men and three fertile controls, using direct and indirect in situ methods. A considerable degree of variation in the degree of MSCI was detected, both between and within probands. Moreover, in post-meiotic stages this variation was observed as well, indicating survival of spermatocytes with incompletely inactivated sex chromosomes. Furthermore, we investigated the presence of H3K9me3 posttranslational modifications on the X and Y chromatin. Contrary to constitutive centromeric heterochromatin, this heterochromatin marker did not specifically accumulate on the XY body, with the exception of the heterochromatic part of the Y chromosome. This may reflect the lower degree of MSCI in man compared to mouse. These results point at relaxation of MSCI, which can be explained by genetic changes in sex chromosome composition during evolution and candidates as a mechanism behind human sperm heterogeneity.

  1. Molecular mapping of chromosomes 17 and X

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.


    The basic aims of this project are the construction of high density genetic maps of chromosomes 17 and X and the utilization of these maps for the subsequent isolation of a set of physically overlapping DNA segment clones. The strategy depends on the utilization of chromosome specific libraries of small (1--15 kb) segments from each of the two chromosomes. Since the time of submission of our previous progress report, we have refined the genetic map of markers which we had previously isolated for chromosome 17. We have completed our genetic mapping in CEPH reference and NF1 families of 15 markers in the pericentric region of chromosome 17. Physical mapping results with three probes, were shown be in very close genetic proximity to the NF1 gene, with respect to two translocation breakpoints which disrupt the activity of the gene. All three of the probes were found to lie between the centromere and the most proximal translocation breakpoint, providing important genetic markers proximal to the NF1 gene. Our primary focus has shifted to the X chromosome. We have isolated an additional 30 polymorphic markers, bringing the total number we have isolated to over 80. We have invested substantial effort in characterizing the polymorphisms at each of these loci and constructed plasmid subclones which reveal the polymorphisms for nearly all of the loci. These subclones are of practical value in that they produce simpler and stronger patterns on human genomic Southern blots, thus improving the efficiency of the genetic mapping experiments. These subclones may also be of value for deriving DNA sequence information at each locus, necessary for establishing polymerase chain reaction primers specific for each locus. Such information would allow the use of each locus as a sequence tagged site.

  2. Chromosomes of Protists: The crucible of evolution. (United States)

    Soyer-Gobillard, Marie-Odile; Dolan, Michael F


    As early as 1925, the great protozoologist Edouard Chatton classified microorganisms into two categories, the prokaryotic and the eukaryotic microbes, based on light microscopical observation of their nuclear organization. Now, by means of transmission electron microscopy, we know that prokaryotic microbes are characterized by the absence of nuclear envelope surrounding the bacterial chromosome, which is more or less condensed and whose chromatin is deprived of histone proteins but presents specific basic proteins. Eukaryotic microbes, the protists, have nuclei surrounded by a nuclear envelope and have chromosomes more or less condensed, with chromatin-containing histone proteins organized into nucleosomes. The extraordinary diversity of mitotic systems presented by the 36 phyla of protists (according to Margulis et al., Handbook of Protoctista, 1990) is in contrast to the relative homogeneity of their chromosome structure and chromatin components. Dinoflagellates are the exception to this pattern. The phylum is composed of around 2000 species, and characterized by unique features including their nucleus (dinokaryon), dinomitosis, chromosome organization and chromatin composition. Although their DNA synthesis is typically eukaryotic, dinoflagellates are the only eukaryotes in which the chromatin, organized into quasi-permanently condensed chromosomes, is in some species devoid of histones and nucleosomes. In these cases, their chromatin contains specific DNA-binding basic proteins. The permanent compaction of their chromosomes throughout the cell cycle raises the question of the modalities of their division and their transcription. Successful in vitro reconstitution of nucleosomes using dinoflagellate DNA and heterologous corn histones raises questions about dinoflagellate evolution and phylogeny. [Int Microbiol 18(4):209-216 (2015)].

  3. Microchimeric Cells, Sex Chromosome Aneuploidies and Cancer. (United States)

    Korkmaz, Deniz Taştemir; Demirhan, Osman; Abat, Deniz; Demirberk, Bülent; Tunç, Erdal; Kuleci, Sedat


    The phenomenon of feta-maternal microchimerisms inspires numerous questions. Many questions remain to be answered regarding this new avenue of genetics. The X and Y chromosomes have been associated with malignancy in different types of human tumors. We aimed to investigate the numerical aberrations of chromosomes X and Y in lung cancer (LC) and bladder cancer (BC) and review recent evidence for possible roles of microchimeric cells (McCs) in these cancers. We carried out cytogenetic analysis of the tumor and blood sampling in 52 cases of people with BC and LC, and also with 30 healthy people. A total of 48 (92.3 %) of the patients revealed sex chromosome aneuploidies (SCAs). A total SCAs was found in 9.8 % of 2282 cells that were analyzed as one or more cells in each case. The 68 and 95 SCAs were found in the 1952 (8.4 %) cells in peripheral blood, and 41 and 19 SCAs in the 330 (18.2 %) cells in the tumoral tissues respectively. There was a significant difference in the frequencies of SCAs between the patients and the control groups determined by the Fischer's Exact Test (p chromosome monosomies. Largely a Y chromosome loss was present in 77.8 % of the men, and the 47, XXY karyotype was found in 33.3 % of them. The second most common SCA was monosomy X, and was found in 71.4 % of the women. McCs were observed in 26.9 % of the 52 patients, and the frequencies of McCs were higher in the blood than in the tissues (p aneuploidies of X and Y chromosomes play a role in the pathogenesis of cancers.

  4. Origin and domestication of papaya Yh chromosome. (United States)

    VanBuren, Robert; Zeng, Fanchang; Chen, Cuixia; Zhang, Jisen; Wai, Ching Man; Han, Jennifer; Aryal, Rishi; Gschwend, Andrea R; Wang, Jianping; Na, Jong-Kuk; Huang, Lixian; Zhang, Lingmao; Miao, Wenjing; Gou, Jiqing; Arro, Jie; Guyot, Romain; Moore, Richard C; Wang, Ming-Li; Zee, Francis; Charlesworth, Deborah; Moore, Paul H; Yu, Qingyi; Ming, Ray


    Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XY(h)). The hermaphrodite-specific region of the Y(h) chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previously. We now report the sequence of the entire male-specific region of the Y (MSY). We used a BAC-by-BAC approach to sequence the MSY and resequence the Y regions of 24 wild males and the Y(h) regions of 12 cultivated hermaphrodites. The MSY and HSY regions have highly similar gene content and structure, and only 0.4% sequence divergence. The MSY sequences from wild males include three distinct haplotypes, associated with the populations' geographic locations, but gene flow is detected for other genomic regions. The Y(h) sequence is highly similar to one Y haplotype (MSY3) found only in wild dioecious populations from the north Pacific region of Costa Rica. The low MSY3-Y(h) divergence supports the hypothesis that hermaphrodite papaya is a product of human domestication. We estimate that Y(h) arose only ∼ 4000 yr ago, well after crop plant domestication in Mesoamerica >6200 yr ago but coinciding with the rise of the Maya civilization. The Y(h) chromosome has lower nucleotide diversity than the Y, or the genome regions that are not fully sex-linked, consistent with a domestication bottleneck. The identification of the ancestral MSY3 haplotype will expedite investigation of the mutation leading to the domestication of the hermaphrodite Y(h) chromosome. In turn, this mutation should identify the gene that was affected by the carpel-suppressing mutation that was involved in the evolution of males.

  5. The DNA sequence of the human X chromosome


    Ross, Mark T.; Grafham, Darren V.; Coffey, Alison J; Scherer, Steven; McLay, Kirsten; Muzny, Donna; Platzer, Matthias; Howell, Gareth R.; Burrows, Christine; Bird, Christine P.; Frankish, Adam; Lovell, Frances L.; Howe, Kevin L; Jennifer L Ashurst; Fulton, Robert S.


    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...

  6. [Familial, structural aberration of the Y chromosome with fertility disorders]. (United States)

    Gall, H; Schmid, M; Schmidtke, J; Schempp, W; Weber, L


    Cytogenetic studies on a patient with Klinefelter's syndrome revealed an inherited, structural aberration of the Y-chromosome which has not been described before. The aberrant Y-chromosome was characterized by eight different banding methods. The value of individual staining techniques in studies on Y-heterochromatin aberrations is emphasized. Analysis of the cytogenetic studies (banding methods, restriction endonuclease of DNA, and measurement of the length of the Y-chromosome) permits an interpretation to be made on how the aberrant Y-chromosome originated. The functions of the Y-chromosome are discussed. The decrease in fertility (cryptozoospermia) in the two brothers with the same aberrant Y-chromosome was striking.

  7. The perpetual movements of anaphase. (United States)

    Maiato, Helder; Lince-Faria, Mariana


    One of the most extraordinary events in the lifetime of a cell is the coordinated separation of sister chromatids during cell division. This is truly the essence of the entire mitotic process and the reason for the most profound morphological changes in cytoskeleton and nuclear organization that a cell may ever experience. It all occurs within a very short time window known as "anaphase", as if the cell had spent the rest of its existence getting ready for this moment in an ultimate act of survival. And there is a good reason for this: no space for mistakes. Problems in the distribution of chromosomes during cell division have been correlated with aneuploidy, a common feature observed in cancers and several birth defects, and the main cause of spontaneous abortion in humans. In this paper, we critically review the mechanisms of anaphase chromosome motion that resisted the scrutiny of more than 100 years of research, as part of a tribute to the pioneering work of Miguel Mota.

  8. DNA Repair Defects and Chromosomal Aberrations (United States)

    Hada, Megumi; George, K. A.; Huff, J. L.; Pluth, J. M.; Cucinotta, F. A.


    Yields of chromosome aberrations were assessed in cells deficient in DNA doublestrand break (DSB) repair, after exposure to acute or to low-dose-rate (0.018 Gy/hr) gamma rays or acute high LET iron nuclei. We studied several cell lines including fibroblasts deficient in ATM (ataxia telangiectasia mutated; product of the gene that is mutated in ataxia telangiectasia patients) or NBS (nibrin; product of the gene mutated in the Nijmegen breakage syndrome), and gliomablastoma cells that are proficient or lacking in DNA-dependent protein kinase (DNA-PK) activity. Chromosomes were analyzed using the fluorescence in situ hybridization (FISH) chromosome painting method in cells at the first division post irradiation, and chromosome aberrations were identified as either simple exchanges (translocations and dicentrics) or complex exchanges (involving >2 breaks in 2 or more chromosomes). Gamma irradiation induced greater yields of both simple and complex exchanges in the DSB repair-defective cells than in the normal cells. The quadratic dose-response terms for both simple and complex chromosome exchanges were significantly higher for the ATM- and NBS-deficient lines than for normal fibroblasts. However, in the NBS cells the linear dose-response term was significantly higher only for simple exchanges. The large increases in the quadratic dose-response terms in these repair-defective cell lines points the importance of the functions of ATM and NBS in chromatin modifications to facilitate correct DSB repair and minimize the formation of aberrations. The differences found between ATM- and NBS-deficient cells at low doses suggest that important questions should with regard to applying observations of radiation sensitivity at high dose to low-dose exposures. For aberrations induced by iron nuclei, regression models preferred purely linear dose responses for simple exchanges and quadratic dose responses for complex exchanges. Relative biological effectiveness (RBE) factors of all of

  9. Non-disjunction of chromosome 18

    DEFF Research Database (Denmark)

    Bugge, M; Collins, A; Petersen, M B


    A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause of non-disjunction for chromosome 18. This is unlike all other human trisomies that have been studied......, which show a higher frequency in maternal meiosis I (MI). Maternal MI trisomy 18 shows a low frequency of recombination in proximal p and medial q, but not the reduction in proximal q observed in chromosome 21 MI non-disjunction. Maternal MII non-disjunction does not fit the entanglement model...

  10. Microdissection and chromosome painting of X and B chromosomes in the grasshopper Eyprepocnemis plorans. (United States)

    Teruel, M; Cabrero, J; Perfectti, F; Acosta, M J; Sánchez, A; Camacho, J P M


    The relative location of 2 repetitive DNAs, i.e. ribosomal (rDNA) and a tandemly repeated satellite DNA (satDNA), with respect to the centromere, suggested that B chromosomes in the grasshopper Eyprepocnemis plorans derived intraspecifically from the X chromosome. To test this hypothesis, we microdissected X and B chromosomes and amplified the obtained DNA by 2 different procedures, the conventional DOP-PCR method and the single-cell whole-genome amplification GenomePlex method. We then generated DNA probes to perform chromosome painting. Our results have confirmed that X and B chromosomes share many DNA sequences between them and with most of the autosomes, especially at locations where the satDNA and rDNA reside, in consistency with previous information. This supports the hypothesis of an intraspecific origin of B chromosomes in E. plorans. Nevertheless, the present results did not help to clarify whether Bs were derived from the X chromosome or else from 1 or more autosomes.

  11. Conserved synteny between pig chromosome 8 and human chromosome 4 but rearranged and distorted linkage maps

    Energy Technology Data Exchange (ETDEWEB)

    Ellegren, H.; Edfors-Lilja, I.; Anderson, L. (Swedish Univ. of Agricultural Sciences, Uppsala (Sweden)); Wintero, A.K. (Royal Veterinary and Agricultural Univ., Fredriksberg (Denmark))


    The porcine genes encoding interleukin 2, alcohol dehydrogenase (class I) gamma polypeptide, and osteopontin were mapped to chromosome 8 by linkage analysis. Together with previous assignments to this chromosome (the albumin, platelet-derived growth factor receptor A, and fibrinogen genes), an extensive syntenic homology with human chromosome 4 was discovered. Loci from about three-quarters of the q arm of human chromosome 4 are on pig chromosome 8. However, the linear order of the markers is not identical in the two species, and there are several examples of interspecific differences in the recombination fractions between adjacent markers. The conserved synteny between man and the pig gives strong support to a previous suggestion that a synteny group present in the ancestor of mammalian species has been retained on human chromosome 4q. Since loci from this synteny group are found on two cattle chromosomes, the bovine rearrangement must have occurred after the split of Suidae and Bovidae within Artiodactyla. 29 refs., 3 figs., 1 tab.

  12. Telomere dysfunction and chromosome structure modulate the contribution of individual chromosomes in abnormal nuclear morphologies

    Energy Technology Data Exchange (ETDEWEB)

    Pampalona, J.; Soler, D.; Genesca, A. [Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona, Bellaterra E-08193 (Spain); Tusell, L., E-mail: [Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona, Bellaterra E-08193 (Spain)


    The cytokinesis-block micronucleus assay has emerged as a biomarker of chromosome damage relevant to cancer. Although it was initially developed to measure micronuclei, it is also useful for measuring nucleoplasmic bridges and nuclear buds. Abnormal nuclear morphologies are frequently observed in malignant tissues and short-term tumour cell cultures. Changes in chromosome structure and number resulting from chromosome instability are important factors in oncogenesis. Telomeres have become key players in the initiation of chromosome instability related to carcinogenesis by means of breakage-fusion-bridge cycles. To better understand the connection between telomere dysfunction and the appearance of abnormal nuclear morphologies, we have characterised the presence of micronuclei, nucleoplasmic bridges and nuclear buds in human mammary primary epithelial cells. These cells can proliferate beyond the Hayflick limit by spontaneously losing expression of the p16{sup INK4a} protein. Progressive telomere shortening leads to the loss of the capping function, and the appearance of end-to-end chromosome fusions that can enter into breakage-fusion-bridge cycles generating massive chromosomal instability. In human mammary epithelial cells, different types of abnormal nuclear morphologies were observed, however only nucleoplasmatic bridges and buds increased significantly with population doublings. Fluorescent in situ hybridisation using centromeric and painting specific probes for chromosomes with eroded telomeres has revealed that these chromosomes are preferentially included in the different types of abnormal nuclear morphologies observed, thus reflecting their common origin. Accordingly, real-time imaging of cell divisions enabled us to determine that anaphase bridge resolution was mainly through chromatin breakage and the formation of symmetric buds in daughter nuclei. Few micronuclei emerged in this cell system thus validating the scoring of nucleoplasmic bridges and

  13. Sensory aspects of movement disorders. (United States)

    Patel, Neepa; Jankovic, Joseph; Hallett, Mark


    Movement disorders, which include disorders such as Parkinson's disease, dystonia, Tourette's syndrome, restless legs syndrome, and akathisia, have traditionally been considered to be disorders of impaired motor control resulting predominantly from dysfunction of the basal ganglia. This notion has been revised largely because of increasing recognition of associated behavioural, psychiatric, autonomic, and other non-motor symptoms. The sensory aspects of movement disorders include intrinsic sensory abnormalities and the effects of external sensory input on the underlying motor abnormality. The basal ganglia, cerebellum, thalamus, and their connections, coupled with altered sensory input, seem to play a key part in abnormal sensorimotor integration. However, more investigation into the phenomenology and physiological basis of sensory abnormalities, and about the role of the basal ganglia, cerebellum, and related structures in somatosensory processing, and its effect on motor control, is needed.

  14. Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report. (United States)

    Vahidi Mehrjardi, Mohammad Yahya; Dehghan Tezerjani, Masoud; Nori-Shadkam, Mahmoud; Kalantar, Seyed Mehdi; Dehghani, Mohammadreza


    The interpretation of supernumerary chromosome is important for genetic counseling and prognosis. Here, we used SNP array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the Neonatal Intensive Care Unit of Shahid Sadoughi Hospital in 2015. Clinical abnormalities identified in the newborn were dysmorphic face, intrauterine growth retardation, atrial septal defect (ASD), the hypoplasia of corpus callosum and septum pellucidum. These clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as prenatal diagnosis.

  15. Dance movement therapy for depression


    Meekums, B; Karkou, V; Nelson, EA


    BACKGROUND: Depression is a debilitating condition affecting more than 350 million people worldwide (WHO 2012) with a limited number of evidence-based treatments. Drug treatments may be inappropriate due to side effects and cost, and not everyone can use talking therapies.There is a need for evidence-based treatments that can be applied across cultures and with people who find it difficult to verbally articulate thoughts and feelings. Dance movement therapy (DMT) is used with people from a ra...

  16. Social Movements, Protest, and Policy

    Directory of Open Access Journals (Sweden)

    Eduardo Silva


    Full Text Available The capacity of Latin American social groups to mobilize has excited the imagination of students of the region since the birth of Latin American studies itself. Alongside the cultural turn, many social movement organizations continue to engage directly with politics. Aspirational goals notwithstanding, in order to improve conditions they devote much of their energy to influencing policy. Although scholars have begun to address the policy impact of Latin American social movements, we have limited systematized understanding of the conditions and mechanisms by which social movement protest affects policy outcomes. This essay argues that a policy process approach offers a useful first cut into more systematic analysis of social movements, protest, and their policy consequences in Latin America. Resumen: Movimientos Sociales, Protesta y Políticas de Gobierno La capacidad de movilización social que evidencia América Latina ha captado el imaginario de investigadores desde los albores de los estudios latinoamericanos. A pesar del giro cultural sobre el tema, muchos movimientos sociales siguen entablando la política de forma directa. Amén de sus metas aspiracionales, en pos de mejorar sus condiciones dedican una cantidad apreciable de sus esfuerzos a influenciar políticas de gobierno. Si bien es cierto que una cantidad no menospreciable de investigadores consideran esos impactos aún hace falta conocimiento sistematizado sobre las condiciones y los mecanismos a través de los cuales la protesta social afecta las políticas del estado. Este ensayo argumenta que enfoques centrados en los procesos de la política pública ofrecen una buena entrada al análisis más sistemático sobre los movimientos sociales, protesta, y sus consecuencias para políticas de gobierno.

  17. National epilepsy movement in Brazil


    P T Fernandes; Noronha, A. L. A.; Sander, J. W.; L. M. Li


    Purpose: To establish a social network of epilepsy lay organization in Brazil to provide advocacy for people with epilepsy and eventually forma powerful National Epilepsy movement. Method.-We actively searched for any associations, support groups or organizations related to epilepsy in the country by personal contacts, internet search and by telephone search. Contact was then established with any entity found. Results: The first meeting was held in Campinas in March 2003, and was attended by ...

  18. Occurrence of aneuploidy for the X chromosome in over 1,300 unrelated specimens screened for the fragile X chromosome

    Energy Technology Data Exchange (ETDEWEB)



    An apparent association between the occurrence of the fragile X syndrome and Klinefelter and Down syndromes has been reported over the past few years. We reported 3 cells with extra X chromosomes [XXY (one cell), XXXY (2 cells)] in a fragile X male who exhibited 37 fragile X chromosomes in 200 cells studied. After making this observation, we decided to determine the number of X chromosomes in all fragile X chromosome analyses to see if there was any increased mitotic nondisjunction for the X chromosome. We conclude that there was no association between the fragile X syndrome and X chromosome mitotic nondisjunction/aneuploidy in this group of individuals. 9 refs., 1 tab.

  19. Cervical spine movement during intubation

    Directory of Open Access Journals (Sweden)

    Amlan Swain


    Full Text Available There have been growing concerns following documented instances of neurological deterioration in patients with cervical spine injury as a result of intubation. A significant body of evidence has since evolved with the primary objective of ascertaining the safest way of securing the endotracheal tube in patients with suspected and proven cervical injury. The search for a mode of intubation producing the least movement at the cervical spine is an ongoing process and is limited by logistic and ethical issues. The ensuing review is an attempt to review available evidence on cervical movements during intubation and to comprehensively outline the movement at the cervical spine with a wide plethora of intubation aids. Literature search was sourced from digital libraries including PubMed, Medline and Google Scholar in addition to the standard textbooks of Anaesthesiology. The keywords used in literature search included 'cervical spine motion,' 'neurological deterioration,' 'intubation biomechanics,' 'direct laryngoscopy,' 'flexible fibreoptic intubation,' 'video laryngoscopes' and 'craniocervical motion.' The scientific information in this review is expected to assist neuroanaesthesiologists for planning airway management in patients with neurological injury as well as to direct further research into this topic which has significant clinical and patient safety implications.

  20. Movement Data Anonymity through Generalization

    Directory of Open Access Journals (Sweden)

    Anna Monreale


    Full Text Available Wireless networks and mobile devices, such as mobile phones and GPS receivers, sense and track the movements of people and vehicles, producing society-wide mobility databases. This is a challenging scenario for data analysis and mining. On the one hand, exciting opportunities arise out of discovering new knowledge about human mobile behavior, and thus fuel intelligent info-mobility applications. On other hand, new privacy concerns arise when mobility data are published. The risk is particularly high for GPS trajectories, which represent movement of a very high precision and spatio-temporal resolution: the de-identification of such trajectories (i.e., forgetting the ID of their associated owners is only a weak protection, as generally it is possible to re-identify a person by observing her routine movements. In this paper we propose a method for achieving true anonymity in a dataset of published trajectories, by defining a transformation of the original GPS trajectories based on spatial generalization and k-anonymity. The proposed method offers a formal data protection safeguard, quantified as a theoretical upper bound to the probability of re-identification. We conduct a thorough study on a real-life GPS trajectory dataset, and provide strong empirical evidence that the proposed anonymity techniques achieve the conflicting goals of data utility and data privacy. In practice, the achieved anonymity protection is much stronger than the theoretical worst case, while the quality of the cluster analysis on the trajectory data is preserved.

  1. The Transformation of the "Old Feminist" Movement. (United States)

    Conrad, Charles


    Demonstrates how the "Old Feminist" movement, originating in broad humanitarian concerns that affirmed woman's selfhood, eventually was transformed into the essentially different "Woman Suffrage" movement. Analyzes a key episode, the 1860 divorce debate. (PD)

  2. Immersion in Movement-Based Interaction (United States)

    Pasch, Marco; Bianchi-Berthouze, Nadia; van Dijk, Betsy; Nijholt, Anton

    The phenomenon of immersing oneself into virtual environments has been established widely. Yet to date (to our best knowledge) the physical dimension has been neglected in studies investigating immersion in Human-Computer Interaction (HCI). In movement-based interaction the user controls the interface via body movements, e.g. direct manipulation of screen objects via gestures or using a handheld controller as a virtual tennis racket. It has been shown that physical activity affects arousal and that movement-based controllers can facilitate engagement in the context of video games. This paper aims at identifying movement features that influence immersion. We first give a brief survey on immersion and movement-based interfaces. Then, we report results from an interview study that investigates how users experience their body movements when interacting with movement-based interfaces. Based on the interviews, we identify four movement-specific features. We recommend them as candidates for further investigation.

  3. Orthodontic Tooth Movement: A Historic Prospective. (United States)

    Will, Leslie A


    The earliest report on orthodontic tooth movement in the English literature was published in 1911. Oppenheim carried out studies on baboons to determine what histologic changes occurred during tooth movement. Reitan and many others carried out research into the nature of tooth movement. The pressure-tension model of tooth movement developed from these studies, whereby the two sides of the tooth responded to forces as if in isolation. A second theory, proposed by Stuteville in 1938, was the hydraulic theory of tooth movement. In this theory, fluid from the vasculature, lymphatic system and intercellular spaces responds to the forces of tooth movement, damping the force and limiting movement. Bien and Baumrind expanded on this theory with their own studies in the 1960s. It is clear that both the pressure-tension and fluid flow concepts have merit, but considerable work needs to be done to ascertain the details so that tooth movement can be managed and controlled.

  4. Garcia chromosomal aneusomy + cytology — EDRN Public Portal (United States)

    Fluorescence in situ hybridization (FISH) assay is used to monitor levels of chromosome copies in interphase cells. Multicolor FISH proes simultaneously target four different chromosome regions in a single cell.

  5. Partial Trisomy of Chromosome 11: A Case Report (United States)

    Falk Rena E.; And Others


    A case of partial trisomy of the short arms of chromosome number 11 resulting in profound retardation and multiple physical defects was confirmed by means of fluorescent karyotyping of the chromosomally balanced carrier father. (Author)

  6. Shaping mitotic chromosomes: From classical concepts to molecular mechanisms. (United States)

    Kschonsak, Marc; Haering, Christian H


    How eukaryotic genomes are packaged into compact cylindrical chromosomes in preparation for cell divisions has remained one of the major unsolved questions of cell biology. Novel approaches to study the topology of DNA helices inside the nuclei of intact cells, paired with computational modeling and precise biomechanical measurements of isolated chromosomes, have advanced our understanding of mitotic chromosome architecture. In this Review Essay, we discuss - in light of these recent insights - the role of chromatin architecture and the functions and possible mechanisms of SMC protein complexes and other molecular machines in the formation of mitotic chromosomes. Based on the information available, we propose a stepwise model of mitotic chromosome condensation that envisions the sequential generation of intra-chromosomal linkages by condensin complexes in the context of cohesin-mediated inter-chromosomal linkages, assisted by topoisomerase II. The described scenario results in rod-shaped metaphase chromosomes ready for their segregation to the cell poles.

  7. The molecular characterization of maize B chromosome specific AFLPs

    Institute of Scientific and Technical Information of China (English)


    The origin and evolution of B chromosomes could be explained by the specific DNA sequence on them.But the specific sequences known were quite limited. To investigate maize B chromosome sqicific DNA sequeces, maize genomes with and without B chromosomes were analyzed by AFLP. Only 5 markers were found specific to genomes with B chromosomes among about 2000 AFLP markers. Southern hybridization and sequence analysis revealed that only the sequence of M8-2D was a B chromosome specific sequence.This sequence contained the telomeric repeat unit AGGGTTT conserved in plant chromosome telomeres.In addition, the sequence of M8-2D shared low homology to clones from maize chromosome 4 centromere as well. M8-2D were localized to B chromosome centromeric and telomeric regions.

  8. Dosage compensation, the origin and the afterlife of sex chromosomes. (United States)

    Larsson, Jan; Meller, Victoria H


    Over the past 100 years Drosophila has been developed into an outstanding model system for the study of evolutionary processes. A fascinating aspect of evolution is the differentiation of sex chromosomes. Organisms with highly differentiated sex chromosomes, such as the mammalian X and Y, must compensate for the imbalance in gene dosage that this creates. The need to adjust the expression of sex-linked genes is a potent force driving the rise of regulatory mechanisms that act on an entire chromosome. This review will contrast the process of dosage compensation in Drosophila with the divergent strategies adopted by other model organisms. While the machinery of sex chromosome compensation is different in each instance, all share the ability to direct chromatin modifications to an entire chromosome. This review will also explore the idea that chromosome-targeting systems are sometimes adapted for other purposes. This appears the likely source of a chromosome-wide targeting system displayed by the Drosophila fourth chromosome.

  9. Understanding Chromosome Disorders and their Implications for Special Educators

    Directory of Open Access Journals (Sweden)

    Linda Gilmore


    Full Text Available More children are now being diagnosed with chromosome abnormalities. Some chromosome disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development. For educators, a basic level of knowledge about chromosome abnormalities is important for understanding the literature and communicating with families and professionals. This paper describes chromosomes, and the numerical and structural anomalies that can occur, usually spontaneously during early cell division. Distinctive features of various chromosome syndromes are summarised before a discussion of the rare chromosome disorders that are labelled, not with a syndrome name, but simply by a description of the chromosome number, size and shape. Because of the potential within-group variability that characterises syndromes, and the scarcity of literature about the rare chromosome disorders, expectations for learning and development of individual students need to be based on the range of possible outcomes that may be achievable.

  10. Mapping and ordered cloning of the human X chromosome

    Energy Technology Data Exchange (ETDEWEB)

    Caskey, C.T.; Nelson, D.L.


    Progress is reported on gathering X chromosome specific libraries and integrating those with the library produced in this project. Further studies on understanding Fragile X Syndrome and other hereditary diseases related to the X chromosome are described. (DT)

  11. Use of chromosome microdissection in fish molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Frederico Henning


    Full Text Available Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chromosome. Probes developed in this manner can be used to investigate chromosome homologies in closely related species. Here we describe a protocol recently used in the gymnotiform species group Eigenmannia and review the major steps involved in the generation of these markers focusing on protocol modifications aiming to reduce the number of required chromosomes.

  12. Meiotic sex chromosome inactivation in Drosophila. (United States)

    Vibranovski, Maria D


    In several different taxa, there is indubitable evidence of transcriptional silencing of the X and Y chromosomes in male meiotic cells of spermatogenesis. However, the so called meiotic sex chromosome inactivation (MSCI) has been recently a hot bed for debate in Drosophila melanogaster. This review covers cytological and genetic observations, data from transgenic constructs with testis-specific promoters, global expression profiles obtained from mutant, wild-type, larvae and adult testes as well as from cells of different stages of spermatogenesis. There is no dispute on that D. melanogaster spermatogenesis presents a down-regulation of X chromosome that does not result from the lack of dosage compensation. However, the issue is currently focused on the level of reduction of X-linked expression, the precise time it occurs and how many genes are affected. The deep examination of data and experiments in this review exposes the limitations intrinsic to the methods of studying MSCI in D. melanogaster. The current methods do not allow us to affirm anything else than the X chromosome down-regulation in meiosis (MSCI). Therefore, conclusion about level, degree or precise timing is inadequate until new approaches are implemented to know the details of MSCI or other processes involved for D. melanogaster model.

  13. Progressive segregation of the Escherichia coli chromosome

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck; Youngren, Brenda; Hansen, Flemming G.


    We have followed the fate of 14 different loci around the Escherichia coli chromosome in living cells at slow growth rate using a highly efficient labelling system and automated measurements. Loci are segregated as they are replicated, but with a marked delay. Most markers segregate in a smooth...

  14. First trimester ultrasound screening of chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Trninić-Pjević Aleksandra


    Full Text Available Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT. Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF, was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down’s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

  15. Chromosome 11q13 deletion syndrome (United States)

    Kim, Yu-Seon; Kim, Gun-Ha; Byeon, Jung Hye; Eun, So-Hee


    Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care. PMID:28018436

  16. Mitotic recombination of chromosome 17 in astrocytomas

    Energy Technology Data Exchange (ETDEWEB)

    James, C.D.; Carlbom, E.; Nordenskjold, M.; Collins, V.P.; Cavenee, W.K. (Ludwig Institute for Cancer Research, Montreal (Canada))


    Allelic combinations at seven loci on human chromosome 17 defined by restriction fragment length polymorphisms were determined in tumor and normal tissues from 35 patients with gliomas. Loss of constitutional heterozygosity at one or more of these loci was observed in 8 of the 24 tumors displaying astrocytic differentiation and in the single primitive neuroectodermal tumor examined. The astrocytomas showing these losses included examples of each adult malignancy grade of the disease, including glioblastoma (malignancy grade IV), and seven of them demonstrated concurrent maintenance of heterozygosity for at least one chromosome 17 locus. Determination of allele dosage together with the genotypic data indicated that the tumor chromosomes 17 were derived by mitotic recombination in 7 of the 9 cases with shared homozygosity of the region 17p11.2-ptr in all cases. In contrast, tumors of oligodendrocytic, ependymal, or mixed cellular differentiation did not exhibit loss of alleles at any of the loci examined. These data suggest that the somatic attainment of homozygosity for loci on chromosome 17p is frequently associated with the oncogenesis of central nervous system tumors, particularly those showing solely astrocytic differentiation, and that mitotic recombination mapping is a useful approach towards the subregional localization of a locus whose rearrangement is involved in this disease.

  17. Ring Chromosome 7 in an Indian Woman (United States)

    Kaur, Anupam; Dhillon, Sumit; Garg, P. D.; Singh, Jai Rup


    Background: Ring chromosome 7 [r(7)] is a rare cytogenetic aberration, with only 16 cases (including 3 females) reported in the literature to date. This is the first reported case of r(7) from India. Method: Clinical and cytogenetic investigations were carried out in an adult female with microcephaly and intellectual disability. Results: Ring…

  18. Mitotic chromosome compaction via active loop extrusion (United States)

    Goloborodko, Anton; Imakaev, Maxim; Marko, John; Mirny, Leonid; MIT-Northwestern Team

    During cell division, two copies of each chromosome are segregated from each other and compacted more than hundred-fold into the canonical X-shaped structures. According to earlier microscopic observations and the recent Hi-C study, chromosomes are compacted into arrays of consecutive loops of ~100 kilobases. Mechanisms that lead to formation of such loop arrays are largely unknown. Here we propose that, during cell division, chromosomes can be compacted by enzymes that extrude loops on chromatin fibers. First, we use computer simulations and analytical modeling to show that a system of loop-extruding enzymes on a chromatin fiber self-organizes into an array of consecutive dynamic loops. Second, we model the process of loop extrusion in 3D and show that, coupled with the topo II strand-passing activity, it leads to robust compaction and segregation of sister chromatids. This mechanism of chromosomal condensation and segregation does not require additional proteins or specific DNA markup and is robust against variations in the number and properties of such loop extruding enzymes. Work at NU was supported by the NSF through Grants DMR-1206868 and MCB-1022117, and by the NIH through Grants GM105847 and CA193419. Work at MIT was supported by the NIH through Grants GM114190 R01HG003143.

  19. The chromosome 9q subtelomere deletion syndrome

    NARCIS (Netherlands)

    Stewart, D.R.; Kleefstra, T.


    The chromosome 9q subtelomere deletion syndrome (9qSTDS) is among the first and most common clinically recognizable syndromes to arise from widespread testing by fluorescent in situ hybridization (FISH) of subtelomere deletions. There are about 50 reported cases worldwide. Affected individuals invar

  20. Psychoeducational Implications of Sex Chromosome Anomalies (United States)

    Wodrich, David L.; Tarbox, Jennifer


    Numerous anomalies involving the sex chromosomes (X or Y) have been documented and their impact on development, learning, and behavior studied. This article reviews three of these disorders, Turner syndrome, Klinefelter syndrome, and Lesch-Nyhan disease. Each of these three is associated with one or more selective impairments or behavioral…

  1. Nondisjunction of chromosome 15: Origin and recombination

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, W.P.; Bernasconi, F.; Schinzel, A.A.; Mutirangura, A.; Ledbetter, D.H. (Baylor College of Medicine, Houston, TX (United States)); Langlois, S. (Univ. of Britisch Columbia, Vancouver (Canada)); Morris, M.A.; Malcolm, S.


    Thirty-two cases of uniparental disomy (UPD), ascertained from Prader-Willi syndrome patients (N=27) and Angelman syndrome patients (N-5), are used to investigate the pattern of recombination associated with nondisjunction of chromosome 15. In addition, the meiotic stage of nondisjunction is inferred by using markers mapping near the centromere. Two basic approaches to the analysis of recombination in specific pairwise intervals along the chromosome. This method shows a significant reduction in recombination for two of five intervals examined. Second, the observed frequency of each recombinant class (i.e., zero, one, two, three, or more observable crossovers) is compared with expected values. This is useful for testing whether the reduction in recombination can be attributed solely to a proportion of cases with no recombination at all (because of asynapsis), with the remaining groups showing normal recombination (or even excess recombination), or whether recombination is uniformly reduced. Analysis of maternal UPD(15) data shows a slight reduction in the multiple-recombinant classes, with a corresponding increase in both the zero- and one-recombinant classes over expected values. The majority, more than 82%, of the extra chromosomes in maternal UPD(15) cases are due to meiotic I nondisjunction events. In contrast, more paternal UPD(15) cases so far examined appear to have a postzygotic origin of the extra paternal chromosome. 33 refs., 1 fig., 7 tabs.

  2. Regulation of chromosomal replication in Caulobacter crescentus. (United States)

    Collier, Justine


    The alpha-proteobacterium Caulobacter crescentus is characterized by its asymmetric cell division, which gives rise to a replicating stalked cell and a non-replicating swarmer cell. Thus, the initiation of chromosomal replication is tightly regulated, temporally and spatially, to ensure that it is coordinated with cell differentiation and cell cycle progression. Waves of DnaA and CtrA activities control when and where the initiation of DNA replication will take place in C. crescentus cells. The conserved DnaA protein initiates chromosomal replication by directly binding to sites within the chromosomal origin (Cori), ensuring that DNA replication starts once and only once per cell cycle. The CtrA response regulator represses the initiation of DNA replication in swarmer cells and in the swarmer compartment of pre-divisional cells, probably by competing with DnaA for binding to Cori. CtrA and DnaA are controlled by multiple redundant regulatory pathways that include DNA methylation-dependent transcriptional regulation, temporally regulated proteolysis and the targeting of regulators to specific locations within the cell. Besides being critical regulators of chromosomal replication, CtrA and DnaA are also master transcriptional regulators that control the expression of many genes, thus connecting DNA replication with other events of the C. crescentus cell cycle.



    Bassett, Anne S.; McGillivray, Barbara C.; Jones, Barry D.; Pantzar, J. Tapio


    Schizophrenia was associated with a distinct autosomal abnormality in two related mildly dysmorphic individuals. The finding of cosegregation of schizophrenia and a partial trisomy of chromosome 5 in the family suggests a potential location of a gene or genes linked to schizophrenia.

  4. Plasmid and chromosome partitioning: surprises from phylogeny

    DEFF Research Database (Denmark)

    Gerdes, Kenn; Møller-Jensen, Jakob; Bugge Jensen, Rasmus


    Plasmids encode partitioning genes (par) that are required for faithful plasmid segregation at cell division. Initially, par loci were identified on plasmids, but more recently they were also found on bacterial chromosomes. We present here a phylogenetic analysis of par loci from plasmids and chr...

  5. Improved prenatal detection of chromosomal anomalies

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U;


    Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

  6. Histone modifications: Cycling with chromosomal replication

    DEFF Research Database (Denmark)

    Thon, Genevieve


    Histone modifications tend to be lost during chromosome duplication. Several recent studies suggest that the RNA interference pathway becomes active during the weakened transcriptional repression occurring at centromeres in S phase, resulting in the re-establishment of histone modifications that ...

  7. Y chromosome microdeletions in Turkish infertile men

    Directory of Open Access Journals (Sweden)

    Zamani Ayse


    Full Text Available AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF screening program. MATERIALS AND METHODS: Karyotype analysis and polymerase chain reaction amplification using 15 Y-specific sequence-tagged sites of AZF region were done. RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50, including 4 patients with numerical and 1 patient with structural abnormalities. Overall, 4 of the 50 patients tested (8% exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men. The frequency of the microdeletions in subgroups with azospermia and oligozoospermia was found to be 10.7% (3/29 and 4.7% (1/21 respectively. Microdeletions of AZFb and AZFc regions were detected in all of the 4 patients. Neither AZFa nor AZFd microdeletions were indicated. CONCLUSIONS: Our findings suggest that one must know whether there is a genetic cause for male infertility before patients can be subjected to ISCI or testicular sperm extraction (TESE/ISCI treatment.

  8. Chromosomes with a life of their own. (United States)

    Jones, R N; González-Sánchez, M; González-García, M; Vega, J M; Puertas, M J


    B chromosomes (Bs) can be described as 'passengers in the genome', a term that has been used for the repetitive DNA which comprises the bulk of the genome in large genome species, except that Bs have a life of their own as independent chromosomes. As with retrotransposons they can accumulate in number, but in this case by various processes of mitotic or meiotic drive, based on their own autonomous ways of using spindles, especially in the gametophyte phase of the life cycle of flowering plants. This selfish property of drive ensures their survival and spread in natural populations, even against a gradient of harmful effects on the host plant phenotype. Bs are inhabitants of the nucleus and they are subject to control by 'genes' in the A chromosome (As) complement. This interaction with the As, together with the balance between drive and harmful effects makes a dynamic system in the life of a B chromosome, notwithstanding the fact that we are only now beginning to unravel the story in a few favoured species. In this review we concentrate mainly on recent developments in the Bs of rye and maize, two of the species currently receiving most attention. We focus on their population dynamics and on the molecular basis of their structural organisation and mechanisms of drive, as well as on their mode of origin and potential applications in plant biotechnology.

  9. A chromosomal breakage syndrome with profound immunodeficiency. (United States)

    Conley, M E; Spinner, N B; Emanuel, B S; Nowell, P C; Nichols, W W


    The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the

  10. Movement Strategies in a Haptic Search Task

    NARCIS (Netherlands)

    van Polanen, V.; Bergmann Tiest, W.M.; Kappers, A.M.L.


    Movement strategies were investigated in a haptic search task where participants indicated whether a target was present among a varying number of items. Hand movements were classified according to two criteria into three movement types. Results indicated that an easy search was performed with a para

  11. Strategic Directions of the Movement Disorder Society

    Institute of Scientific and Technical Information of China (English)

    Mark Hallett, M.D


    @@The Movement Disorder Society (MDS) is the international not-for-profit organization representing and serving clinicians, other health professionals, researchers and policy makers interested in the area of movement disorders. The Society is represented in 68 countries by approximately 1,500 members. The Society has developed regional sections and welcomes affiliation of regional Movement Disorder groups.

  12. Human Movement Potential: Its Ideokinetic Facilitation. (United States)

    Sweigard, Lulu E.

    This book focuses on the interdependence of postural alignment and the performance of movement. It provides an educational method (ideokinesis), which stresses the inherent capacity of the nervous system to determine the most efficient neuromuscular coordination for each movement. This method of teaching body balance and efficient movement has…

  13. Coding and Interpreting Movement on the Rorschach. (United States)

    Holaday, Margot


    A survey of 26 Rorschach experts and 19 students of Rorschach use was conducted to help students using the Exner Comprehensive System determine whether to code movement for nouns with definitions that include movement. Experts and students did not reach agreement, but a literature review suggests such nouns should often be coded as movement. (SLD)

  14. Movement and Character. Lecture, London, 1946 (United States)

    Montesorri, Maria


    Dr. Montessori's words from the 1946 London Lectures describe principles of intelligence and character, the work of the hand, and movement with a purpose as being integral to self-construction. The perfection of movement is spiritual, says Dr. Montessori. Repetition of practical life exercises are exercises in movement with the dignity of human…

  15. Eye Movement Disorders in Dyslexia. Final Report. (United States)

    Festinger, Leon; And Others

    Eye movements of 18 male and seven female dyslexic children and 10 normal children were evaluated to determine if eye movement disorders may be the cause of some of the symptoms associated with dyslexia. Data on eye movements were collected while Ss moved their eyes from one fixation point to another in a nonreading situation. Errors in vertical…

  16. Latino Movement: A Target for Harassment? (United States)

    Rodriguez, Roberto


    Members of the Movimiento Estudiantil Chicano de Aztlan (MEChA), which translates to Chicano Student Movement of Aztlan, report that their movement is being targeted by school administrators across the country due to its demands for Chicano/Latino studies programs and protests against anti-immigration and anti-affirmative action movements.…

  17. Transformers: Movement Experiences for Early Childhood Classrooms (United States)

    Vagovic, Julia


    Transformers are simple movement experiences for the classroom that engage the mind and body, focus energy, and help children transition to the next activity. Teachers can use them throughout the day, every day. The author explains the basic movements and suggests ways to build on them. They range from deep breathing to gentle wake-up movements to…

  18. Diffusing Polymers in Confined Microdomains and Estimation of Chromosomal Territory Sizes from Chromosome Capture Data (United States)

    Amitai, A.; Holcman, D.


    Is it possible to extract the size and structure of chromosomal territories (confined domain) from the encounter frequencies of chromosomal loci? To answer this question, we estimate the mean time for two monomers located on the same polymer to encounter, which we call the mean first encounter time in a confined microdomain (MFETC). We approximate the confined domain geometry by a harmonic potential well and obtain an asymptotic expression that agrees with Brownian simulations for the MFETC as a function of the polymer length, the radius of the confined domain, and the activation distance radius ɛ at which the two searching monomers meet. We illustrate the present approach using chromosome capture data for the encounter rate distribution of two loci depending on their distances along the DNA. We estimate the domain size that restricts the motion of one of these loci for chromosome II in yeast.

  19. Human Sperm Chromosome Analysis—Study on Human Sperm Chromosome Mutagenesis Induced by Carbon Disulfide

    Institute of Scientific and Technical Information of China (English)



    The aim of this study was to investigate the effect CS2 of on human sperm chromosomal aberration.The human sperm/hamster egg fusion techniquse was used to analyze 203 human sperm chromosome complement form 9 healthy volunteers.The incidence of numerical aberration was 1.0%,and that of structural chromosome aberration was 5.9% and total abnormalities was 6.9%.Structural aberrations consisted of breaks,deletions, centric rings,fragments,and chromatid exchange.The results from high concentration group(10μmol·L-1 CS2)showed that the incidence of chromosomal aberration rate was significantly higher than that of the control group.The results indicate that high concentration of CS2 might directly cause mutatenesis f the germ cell.

  20. Dielectrophoretic manipulation of human chromosomes in microfluidic channels: extracting chromosome dielectric properties

    DEFF Research Database (Denmark)

    Clausen, Casper Hyttel; Dimaki, Maria; Buckley, Sonia;


    An investigation of the dielectric properties of polyamine buffer prepared human chromosomes is presented in this paper. Chromosomes prepared in this buffer are only a few micrometers in size and shaped roughly like spherical discs. Dielectrophoresis was therefore chosen as the method...... of manipulation combined with a custom designed microfluidic system containing the required electrodes for dielectrophoresis experiments. Our results show that although this system is presently not able to distinguish between the different chromosomes, it can provide average data for the dielectric properties...... of human chromosomes in polyamine buffer. These can then be used to optimize system designs for further characterization and even sorting. The experimental data from the dielectrophoretic manipulation were combined with theoretical calculations to extract a range of values for the permittivity...

  1. Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.

    Directory of Open Access Journals (Sweden)

    Véronique Brault


    Full Text Available One of the challenges of genomic research after the completion of the human genome project is to assign a function to all the genes and to understand their interactions and organizations. Among the various techniques, the emergence of chromosome engineering tools with the aim to manipulate large genomic regions in the mouse model offers a powerful way to accelerate the discovery of gene functions and provides more mouse models to study normal and pathological developmental processes associated with aneuploidy. The combination of gene targeting in ES cells, recombinase technology, and other techniques makes it possible to generate new chromosomes carrying specific and defined deletions, duplications, inversions, and translocations that are accelerating functional analysis. This review presents the current status of chromosome engineering techniques and discusses the different applications as well as the implication of these new techniques in future research to better understand the function of chromosomal organization and structures.

  2. Heteromorphic Sex Chromosomes: Navigating Meiosis without a Homologous Partner


    Checchi, Paula M.; Engebrecht, JoAnne


    Accurate chromosome segregation during meiosis relies on homology between the maternal and paternal chromosomes. Yet by definition, sex chromosomes of the heterogametic sex lack a homologous partner. Recent studies in a number of systems have shed light on the unique meiotic behavior of heteromorphic sex chromosomes, and highlight both the commonalities and differences in divergent species. During meiotic prophase, the homology-dependent processes of pairing, synapsis, and recombination have ...

  3. SMC complexes in bacterial chromosome condensation and segregation. (United States)

    Strunnikov, Alexander V


    Bacterial chromosomes segregate via a partition apparatus that employs a score of specialized proteins. The SMC complexes play a crucial role in the chromosome partitioning process by organizing bacterial chromosomes through their ATP-dependent chromatin-compacting activity. Recent progress in the composition of these complexes and elucidation of their structural and enzymatic properties has advanced our comprehension of chromosome condensation and segregation mechanics in bacteria.

  4. SMC complexes in bacterial chromosome condensation and segregation


    Strunnikov, Alexander V.


    Bacterial chromosomes segregate via a partition apparatus that employs a score of specialized proteins. The SMC complexes play a crucial role in the chromosome partitioning process by organizing bacterial chromosomes through their ATP-dependent chromatin-compacting activity. Recent progress in the composition of these complexes and elucidation of their structural and enzymatic properties has advanced our comprehension of chromosome condensation and segregation mechanics in bacteria.

  5. Chromosomal aberrations in ISS crew members (United States)

    Johannes, Christian; Goedecke, Wolfgang; Antonopoulos, Alexandra


    High energy radiation is a major risk factor in manned space missions. Astronauts and cosmonauts are exposed to ionising radiations of cosmic and solar origin, while on the Earth's surface people are well protected by the atmosphere and a deflecting magnetic field. There are now data available describing the dose and the quality of ionising radiation on-board of the International Space Station (ISS). Nonetheless, the effect of increased radiation dose on mutation rates of ISS crew members are hard to predict. Therefore, direct measurements of mutation rates are required in order to better estimate the radiation risk for longer duration missions. The analysis of chromosomal aberrations in peripheral blood lymphocytes is a well established method to measure radiation-induced mutations. We present data of chromosome aberration analyses from lymphocyte metaphase spreads of ISS crew members participating in short term (10-14 days) or long term (around 6 months) missions. From each subject we received two blood samples. The first sample was drawn about 10 days before launch and a second one within 3 days after return from flight. From lymphocyte cultures metaphase plates were prepared on glass slides. Giemsa stained and in situ hybridised metaphases were scored for chromosome changes in pre-flight and post-flight blood samples and the mutation rates were compared. Results obtained in chromosomal studies on long-term flight crew members showed pronounced inter-individual differences in the response to elevated radiation levels. Overall slight but significant elevations of typical radiation induced aberrations, i.e., dicentric chromosomes and reciprocal translocations have been observed. Our data indicate no elevation of mutation rates due to short term stays on-board the ISS.

  6. Undermethylation associated with retroelement activation and chromosome remodelling in an interspecific mammalian hybrid. (United States)

    O'Neill, R J; O'Neill, M J; Graves, J A


    Genetic models predict that genomic rearrangement in hybrids can facilitate reproductive isolation and the formation of new species by preventing gene flow between the parent species and hybrid (sunflowers are an example). The mechanism underlying hybridization-induced chromosome remodelling is as yet unknown, although mobile element activity has been shown to be involved in DNA rearrangement in some dysgenic Drosophila hybrids. It has been proposed that DNA methylation evolved as a means of repressing the movement of mobile elements (the host defence model). If such a protective mechanism were to fail, mobile elements could be activated, and could cause major and rapid genome alterations. Here we demonstrate the occurrence of genome-wide undermethylation, retroviral element amplification and chromosome remodelling in an interspecific mammalian hybrid (Macropus eugenii x Wallabia bicolor). Atypically extended centromeres of Macropus eugenii derived autosomes in the hybrid were composed primarily of an unmethylated, amplified retroviral element not detectable in either parent species. These results, taken with the observation of deficient methylation and de novo chromosome change in other mammalian hybrids, indicate that the failure of DNA methylation and subsequent mobile-element activity in hybrids could facilitate rapid karyotypic evolution.

  7. Alteration of Terminal Heterochromatin and Chromosome Rearrangements in Derivatives of Wheat-Rye Hybrids

    Institute of Scientific and Technical Information of China (English)

    Shulan Fu; Zhenling Lv; Xiang Guo; Xiangqi Zhang; Fangpu Han


    Wheat-rye addition and substitution lines and their self progenies revealed variations in telomeric heterochromatin and centromeres.Furthermore,a mitotically unstable dicentric chromosome and stable multicentric chromosomes were observed in the progeny of a Chinese Spring-Imperial rye 3R addition line.An unstable multicentric chromosome was found in the progeny of a 6R/6D substitution line.Drastic variation of terminal heterochromatin including movement and disappearance of terminal heterochromatin occurred in the progeny of wheatrye addition line 3R,and the 5RS ditelosomic addition line.Highly stable minichromosomes were observed in the progeny of a monosomic 4R addition line,a ditelosomic 5RS addition line and a 6R/6D substitution line.Minichromosomes,with and without the FISH signals for telomeric DNA (TTTAGGG)n,derived from a monosomic 4R addition line are stable and transmissible to the next generation.The results indicated that centromeres and terminal heterochromatin can be profoundly altered in wheat-rye hybrid derivatives.

  8. Chromosomes at Work: Organization of Chromosome Territories in the Interphase Nucleus. (United States)

    Fritz, Andrew J; Barutcu, A Rasim; Martin-Buley, Lori; van Wijnen, André J; Zaidi, Sayyed K; Imbalzano, Anthony N; Lian, Jane B; Stein, Janet L; Stein, Gary S


    The organization of interphase chromosomes in chromosome territories (CTs) was first proposed more than one hundred years ago. The introduction of increasingly sophisticated microscopic and molecular techniques, now provide complementary strategies for studying CTs in greater depth than ever before. Here we provide an overview of these strategies and how they are being used to elucidate CT interactions and the role of these dynamically regulated, nuclear-structure building blocks in directly supporting nuclear function in a physiologically responsive manner.

  9. The architecture of chicken chromosome territories changes during differentiation

    Directory of Open Access Journals (Sweden)

    Stadler Sonja


    Full Text Available Abstract Background Between cell divisions the chromatin fiber of each chromosome is restricted to a subvolume of the interphase cell nucleus called chromosome territory. The internal organization of these chromosome territories is still largely unknown. Results We compared the large-scale chromatin structure of chromosome territories between several hematopoietic chicken cell types at various differentiation stages. Chromosome territories were labeled by fluorescence in situ hybridization in structurally preserved nuclei, recorded by confocal microscopy and evaluated visually and by quantitative image analysis. Chromosome territories in multipotent myeloid precursor cells appeared homogeneously stained and compact. The inactive lysozyme gene as well as the centromere of the lysozyme gene harboring chromosome located to the interior of the chromosome territory. In further differentiated cell types such as myeloblasts, macrophages and erythroblasts chromosome territories appeared increasingly diffuse, disaggregating to separable substructures. The lysozyme gene, which is gradually activated during the differentiation to activated macrophages, as well as the centromere were relocated increasingly to more external positions. Conclusions Our results reveal a cell type specific constitution of chromosome territories. The data suggest that a repositioning of chromosomal loci during differentiation may be a consequence of general changes in chromosome territory morphology, not necessarily related to transcriptional changes.

  10. 21 CFR 864.2260 - Chromosome culture kit. (United States)


    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Chromosome culture kit. 864.2260 Section 864.2260...) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Cell And Tissue Culture Products § 864.2260 Chromosome culture kit. (a) Identification. A chromosome culture kit is a device containing the necessary...

  11. Nonuniform processes of chromosome evolution in sedges (Carex: Cyperaceae). (United States)

    Hipp, Andrew L


    Holocentric chromosomes-chromosomes that lack localized centromeres-occur in numerous unrelated clades of insects, flatworms, and angiosperms. Chromosome number changes in such organisms often result from fission and fusion events rather than polyploidy. In this study, I test the hypothesis that chromosome number evolves according to a uniform process in Carex section Ovales (Cyperaceae), the largest New World section of an angiosperm genus renowned for its chromosomal variability and species richness. I evaluate alternative models of chromosome evolution that allow for shifts in both stochastic and deterministic evolutionary processes and that quantify the rate of evolution and heritability/phylogenetic dependence of chromosome number. Estimates of Ornstein-Uhlenbeck model parameters and tree-scaling parameters in a generalized least squares framework demonstrate that (1) chromosome numbers evolve rapidly toward clade-specific stationary distributions that cannot be explained by constant variance (Brownian motion) evolutionary models, (2) chromosome evolution in the section is rapid and exhibits little phylogenetic inertia, and (3) explaining the phylogenetic pattern of chromosome numbers in the section entails inferring a shift in evolutionary dynamics at the root of a derived clade. The finding that chromosome evolution is not a uniform process in sedges provides a novel example of karyotypic orthoselection in an organism with holocentric chromosomes.

  12. In situ hybridization to somatic chromosomes in Drosophila. (United States)

    Dernburg, Abby F


    In situ hybridization was originally developed as a technique for visualizing and physically mapping specific sequences on Drosophila melanogaster polytene chromosomes. Hybridization techniques can also be used to localize sequences on smaller, diploid chromosomes, such as condensed mitotic chromosomes. Variations of the method also allow the hybridization of probes to chromosomes within intact cells and tissues, rather than to chromosomes isolated from their cellular context and flattened on slides. This article presents methods for hybridizing fluorescent probes to chromosomes in whole-mount Drosophila tissues. These methods allow the investigation of nuclear organization even at stages where chromosomes are decondensed (as in interphase) or, for other reasons, cannot be discriminated in the light microscope. Consequently, they are useful for addressing a variety of cell biological questions. In addition to enhancing our understanding of somatic chromosome organization, this experimental approach has also revealed interactions among meiotic chromosomes in Drosophila females, which spend much of meiosis in a compact ball called the karyosome. Fluorescent in situ hybridization (FISH) methods can also be used to karyotype individual nuclei using chromosome-specific markers. With appropriate fixation conditions, hybridization to chromosomal DNA can be performed in conjunction with immunostaining, allowing the colocalization of cellular or chromosomal proteins.

  13. Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    Fagan, K. [Hunter Area Pathology Service, New South Wales (Australia); Edwards, M. [Western Suburbs Hospital, New South Wales (Australia)


    We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identified the marker as deriving from chromosome 17. 20 refs., 2 figs., 1 tab.

  14. Neocentrics and holokinetics (holocentrics): chromosomes out of the centromeric rules. (United States)

    Guerra, M; Cabral, G; Cuacos, M; González-García, M; González-Sánchez, M; Vega, J; Puertas, M J


    The centromere appears as a single constriction at mitotic metaphase in most eukaryotic chromosomes. Holokinetic chromosomes are the exception to this rule because they do not show any centromeric constrictions. Holokinetic chromosomes are usually forgotten in most reviews about centromeres, despite their presence in a number of animal and plant species. They are generally linked to very intriguing and unusual mechanisms of mitosis and meiosis. Holokinetic chromosomes differ from monocentric chromosomes not only in the extension of the kinetochore plate, but also in many other peculiar karyological features, which could be understood as the 'holokinetic syndrome' that is reviewed in detail. Together with holokinetic chromosomes we review neocentromeric activity, a similarly intriguing case of regions able to pull chromosomes towards the poles without showing the main components reported to be essential to centromeric function. A neocentromere is a chromosomal region different from the true centromere in structure, DNA sequence and location, but is able to lead chromosomes to the cell poles in special circumstances. Neocentromeres have been reported in plants and animals showing different features. Both in humans and Drosophila, neocentric activity appears in somatic cells with defective chromosomes lacking a functional centromere. In most cases in plants, neocentromeres appear in chromosomes which have normal centromeres, but are active only during meiosis. Because of examples such as spontaneous or induced neocentromeres and holokinetic chromosomes, it is becoming less surprising that different structures and DNA sequences of centromeres appear in evolution.

  15. Visualization of chromosomes in the binucleate intestinal parasite Giardia lamblia. (United States)

    Shen, Hai E; Cao, Lei; Li, Ji; Tian, Xi Feng; Yang, Zhi Hong; Wang, Yue; Tian, Yu Na; Lu, Si Qi


    Mitosis of Giardia lamblia is a complex and rapid event that is poorly understood at the cellular and molecular levels. Therefore, we conducted this study to determine (1) whether the two nuclei have similar or different chromosomes, (2) the number of chromosomes of G. lamblia, and (3) the morphology and karyotype of the chromosomes. Trophozoites of the C2 and WB strains of G. lamblia were grown in modified TYI-S-33 medium at 37°C. The trophozoites were collected, and sample slides were prepared for conventional light and scanning electron microscopy. Light microscopy revealed five pairs of chromosomes. The chromosomes were approximately 0.64-0.94 μm long with a short rod-like shape and were usually arranged in pairs. Scanning electron microscopy yielded similar findings, and 10 chromosomes could be seen in each nucleus. Thus, the chromosome number of G. lamblia is 2n = 10. Chromosomes in pair 1 are submetacentric chromosomes, while pairs 2-5 are telocentric chromosomes. The present study shows that G. lamblia trophozoites have typical condensed chromosomes during mitosis and contains five pairs of chromosomes. The karyogram shows good fit to the formula 2n = 10 = 2sm + 8t revealed by scanning electron microscopy.

  16. Fish on avian lampbrush chromosomes produces higher resolution gene mapping

    NARCIS (Netherlands)

    Galkina, S.A.; Deryusheva, S.; Fillon, V.; Vignal, A.; Crooijmans, R.P.M.A.; Groenen, M.A.M.; Rodionov, A.V.; Gaginskaya, E.


    Giant lampbrush chromosomes, which are characteristic of the diplotene stage of prophase I during avian oogenesis, represent a very promising system for precise physical gene mapping. We applied 35 chicken BAC and 4 PAC clones to both mitotic metaphase chromosomes and meiotic lampbrush chromosomes o

  17. Chromosome banding and gene localizations support extensive conservation of chromosome structure between cattle and sheep. (United States)

    Hediger, R; Ansari, H A; Stranzinger, G F


    By using three gene probes, one derived from the porcine major histocompatibility complex (MHC) and two from bovine cytokeratin genes, type I (KRTA) and type II (KRTB), the hypothesis of conservation of genome structure in two members of the family Bovidae was examined. Gene mapping data revealed the MHC to be in chromosome region 23q15----q23 in cattle (BOLA) and 20q15----q23 in sheep (OLA). KRTA was localized to chromosome region 19q25----q29 in cattle and 11q25----q29 in sheep and KRTB to 5q14----q22 in cattle and 3q14----q22 in sheep. The banding patterns of the chromosome arms to which the loci were assigned were identical in both species. Moreover, the resemblances of GTG- or QFQ-banding patterns between the cattle and sheep karyotypes illustrated further chromosome homologies. These studies, based on gene mapping comparisons and comparative cytogenetics, document that within bovid chromosomes, homology of banding patterns corresponds to a homologous genetic structure. Hence, we propose that gene assignments on identified chromosomal segments in one species of the Bovidae can be extrapolated, in general, to other bovid species based on the banding homologies presented here.

  18. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. (United States)

    Siffroi, J P; Le Bourhis, C; Krausz, C; Barbaux, S; Quintana-Murci, L; Kanafani, S; Rouba, H; Bujan, L; Bourrouillou, G; Seifer, I; Boucher, D; Fellous, M; McElreavey, K; Dadoune, J P


    Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines.

  19. Hypermethylated Chromosome Regions in Nine Fish Species with Heteromorphic Sex Chromosomes. (United States)

    Schmid, Michael; Steinlein, Claus; Yano, Cassia F; Cioffi, Marcelo B


    Sites and amounts of 5-methylcytosine (5-MeC)-rich chromosome regions were detected in the karyotypes of 9 Brazilian species of Characiformes fishes by indirect immunofluorescence using a monoclonal anti-5-MeC antibody. These species, belonging to the genera Leporinus, Triportheus and Hoplias, are characterized by highly differentiated and heteromorphic ZW and XY sex chromosomes. In all species, the hypermethylated regions are confined to constitutive heterochromatin. The number and chromosome locations of hypermethylated heterochromatic regions in the karyotypes are constant and species-specific. Generally, heterochromatic regions that are darkly stained by the C-banding technique are distinctly hypermethylated, but several of the brightly fluorescing hypermethylated regions merely exhibit moderate or faint C-banding. The ZW and XY sex chromosomes of all 9 analyzed species also show species-specific heterochromatin hypermethylation patterns. The analysis of 5-MeC-rich chromosome regions contributes valuable data for comparative cytogenetics of closely related species and highlights the dynamic process of differentiation operating in the repetitive DNA fraction of sex chromosomes.

  20. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes. (United States)

    Soh, Y Q Shirleen; Alföldi, Jessica; Pyntikova, Tatyana; Brown, Laura G; Graves, Tina; Minx, Patrick J; Fulton, Robert S; Kremitzki, Colin; Koutseva, Natalia; Mueller, Jacob L; Rozen, Steve; Hughes, Jennifer F; Owens, Elaine; Womack, James E; Murphy, William J; Cao, Qing; de Jong, Pieter; Warren, Wesley C; Wilson, Richard K; Skaletsky, Helen; Page, David C


    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of the MSY derives from the ancestral autosomes that gave rise to the mammalian sex chromosomes. Instead, all but 45 of the MSY's genes belong to three acquired, massively amplified gene families that have no homologs on primate MSYs but do have acquired, amplified homologs on the mouse X chromosome. The complete mouse MSY sequence brings to light dramatic forces in sex chromosome evolution: lineage-specific convergent acquisition and amplification of X-Y gene families, possibly fueled by antagonism between acquired X-Y homologs. The mouse MSY sequence presents opportunities for experimental studies of a sex-specific chromosome in its entirety, in a genetically tractable model organism.