WorldWideScience

Sample records for chromosomal inversion enhances

  1. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (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...

  2. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (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...

  3. Adaptation through chromosomal inversions in Anopheles

    Directory of Open Access Journals (Sweden)

    Diego eAyala

    2014-05-01

    Full Text Available Chromosomal inversions have been repeatedly involved in local adaptation in a large number of animals and plants. The ecological and behavioral plasticity of Anopheles species - human malaria vectors - is mirrored by high amounts of polymorphic inversions. The adaptive significance of chromosomal inversions has been consistently attested by strong and significant correlations between their frequencies and a number of phenotypic traits. Here, we provide an extensive literature review of the different adaptive traits associated with chromosomal inversions in the genus Anopheles. Traits having important consequences for the success of present and future vector control measures, such as insecticide resistance and behavioral changes, are discussed.

  4. Pericentric inversion of chromosome 12; a three family study

    DEFF Research Database (Denmark)

    Haagerup, A; Hertz, Jens Michael

    1992-01-01

    A pericentric inversion of chromosome 12 has been followed in three large independently ascertained Danish families. Out of a total number of 52 persons examined, 25 were found to carry the inversion. The breakpoints in all three families were localized to p13 and q13, resulting in more than one...... segregation rate is calculated to be 0.58, which is not significantly different from an expected segregation rate of 0.5. In family 3, an additional inversion of a chromosome 9 has been found in 4 individuals. Our results are discussed in relation to previous findings and with respect to the genetic...... counselling of families with pericentric inversions....

  5. Chromosome inversions, adaptive cassettes and the evolution of species' ranges.

    Science.gov (United States)

    Kirkpatrick, Mark; Barrett, Brian

    2015-05-01

    A chromosome inversion can spread when it captures locally adapted alleles or when it is introduced into a species by hybridization with adapted alleles that were previously absent. We present a model that shows how both processes can cause a species range to expand. Introgression of an inversion that carries novel, locally adapted alleles is a particularly powerful mechanism for range expansion. The model supports the earlier proposal that introgression of an inversion triggered a large range expansion of a malaria mosquito. These results suggest a role for inversions as cassettes of genes that can accelerate adaptation by crossing species boundaries, rather than protecting genomes from introgression. PMID:25583098

  6. De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly

    OpenAIRE

    Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

    2010-01-01

    Purpose The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). Materials and Methods We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed...

  7. A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

    OpenAIRE

    Venkateshwari Ananthapur; Srilekha Avvari; Sujatha Madireddi; Pratibha Nallari; Jyothy Akka

    2012-01-01

    An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.

  8. Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16

    OpenAIRE

    Goidts, Violaine; Szamalek, Justyna M.; de Jong, Pieter J; Cooper, David N.; Chuzhanova, Nadia; Hameister, Horst; Kehrer-Sawatzki, Hildegard

    2005-01-01

    Analyses of chromosomal rearrangements that have occurred during the evolution of the hominoids can reveal much about the mutational mechanisms underlying primate chromosome evolution. We characterized the breakpoints of the pericentric inversion of chimpanzee chromosome 18 (PTR XVI), which is homologous to human chromosome 16 (HSA 16). A conserved 23-kb inverted repeat composed of satellites, LINE and Alu elements was identified near the breakpoints and could have mediated the inversion by b...

  9. A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

    Directory of Open Access Journals (Sweden)

    Venkateshwari Ananthapur

    2012-01-01

    Full Text Available An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2 karyotype.

  10. A dysmorphic child with a pericentric inversion of chromosome 8.

    Science.gov (United States)

    Ananthapur, Venkateshwari; Avvari, Srilekha; Madireddi, Sujatha; Nallari, Pratibha; Akka, Jyothy

    2012-01-01

    An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. PMID:22606536

  11. The genetic content of chromosomal inversions across a wide latitudinal gradient.

    Directory of Open Access Journals (Sweden)

    Pedro Simões

    Full Text Available There is increasing evidence regarding the role of chromosomal inversions in relevant biological processes such as local adaptation and speciation. A classic example of the adaptive role of chromosomal polymorphisms is given by the clines of inversion frequencies in Drosophila subobscura, repeatable across continents. Nevertheless, not much is known about the molecular variation associated with these polymorphisms. We characterized the genetic content of ca. 600 individuals from nine European populations following a latitudinal gradient by analysing 19 microsatellite loci from two autosomes (J and U and the sex chromosome (A, taking into account their chromosomal inversions. Our results clearly demonstrate the molecular genetic uniformity within a given chromosomal inversion across a large latitudinal gradient, particularly from Groningen (Netherlands in the north to Málaga (Spain in the south, experiencing highly diverse environmental conditions. This low genetic differentiation within the same gene arrangement across the nine European populations is consistent with the local adaptation hypothesis for th evolutionof chromosomal polymorphisms. We also show the effective role of chromosomal inversions in maintaining different genetic pools within these inverted genomic regions even in the presence of high gene flow. Inversions represent thus an important barrier to gene flux and can help maintain specific allelic combinations with positive effects on fitness. Consistent patterns of microsatellite allele-inversion linkage disequilibrium particularly in loci within inversions were also observed. Finally, we identified areas within inversions presenting clinal variation that might be under selection.

  12. Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

    Directory of Open Access Journals (Sweden)

    Francesca Malvestiti

    2013-01-01

    Full Text Available Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

  13. Chromosome Inversions, Genomic Differentiation and Speciation in the African Malaria Mosquito Anopheles gambiae

    Science.gov (United States)

    Lee, Yoosook; Collier, Travis C.; Sanford, Michelle R.; Marsden, Clare D.; Fofana, Abdrahamane; Cornel, Anthony J.; Lanzaro, Gregory C.

    2013-01-01

    The African malaria vector, Anopheles gambiae, is characterized by multiple polymorphic chromosomal inversions and has become widely studied as a system for exploring models of speciation. Near complete reproductive isolation between different inversion types, known as chromosomal forms, has led to the suggestion that A. gambiae is in early stages of speciation, with divergence evolving in the face of considerable gene flow. We compared the standard chromosomal arrangement (Savanna form) with genomes homozygous for j, b, c, and u inversions (Bamako form) in order to identify regions of genomic divergence with respect to inversion polymorphism. We found levels of divergence between the two sub-taxa within some of these inversions (2Rj and 2Rb), but at a level lower than expected and confined near the inversion breakpoints, consistent with a gene flux model. Unexpectedly, we found that the majority of diverged regions were located on the X chromosome, which contained half of all significantly diverged regions, with much of this divergence located within exons. This is surprising given that the Bamako and Savanna chromosomal forms are both within the S molecular form that is defined by a locus near centromere of X chromosome. Two X-linked genes (a heat shock protein and P450 encoding genes) involved in reproductive isolation between the M and S molecular forms of A. gambiae were also significantly diverged between the two chromosomal forms. These results suggest that genes mediating reproductive isolation are likely located on the X chromosome, as is thought to be the case for the M and S molecular forms. We conclude that genes located on the sex chromosome may be the major force driving speciation between these chromosomal forms of A. gambiae. PMID:23526957

  14. Chromosome inversions, genomic differentiation and speciation in the African malaria mosquito Anopheles gambiae.

    Directory of Open Access Journals (Sweden)

    Yoosook Lee

    Full Text Available The African malaria vector, Anopheles gambiae, is characterized by multiple polymorphic chromosomal inversions and has become widely studied as a system for exploring models of speciation. Near complete reproductive isolation between different inversion types, known as chromosomal forms, has led to the suggestion that A. gambiae is in early stages of speciation, with divergence evolving in the face of considerable gene flow. We compared the standard chromosomal arrangement (Savanna form with genomes homozygous for j, b, c, and u inversions (Bamako form in order to identify regions of genomic divergence with respect to inversion polymorphism. We found levels of divergence between the two sub-taxa within some of these inversions (2Rj and 2Rb, but at a level lower than expected and confined near the inversion breakpoints, consistent with a gene flux model. Unexpectedly, we found that the majority of diverged regions were located on the X chromosome, which contained half of all significantly diverged regions, with much of this divergence located within exons. This is surprising given that the Bamako and Savanna chromosomal forms are both within the S molecular form that is defined by a locus near centromere of X chromosome. Two X-linked genes (a heat shock protein and P450 encoding genes involved in reproductive isolation between the M and S molecular forms of A. gambiae were also significantly diverged between the two chromosomal forms. These results suggest that genes mediating reproductive isolation are likely located on the X chromosome, as is thought to be the case for the M and S molecular forms. We conclude that genes located on the sex chromosome may be the major force driving speciation between these chromosomal forms of A. gambiae.

  15. Not para-, not peri-, but centric inversion of chromosome 12

    DEFF Research Database (Denmark)

    Silahtaroglu, A N; Hacihanefioglu, S; Güven, G S; Cenani, A; Wirth, J; Tommerup, Niels; Tümer, Z

    1998-01-01

    A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a...

  16. Anopheles darlingi polytene chromosomes: revised maps including newly described inversions and evidence for population structure in Manaus.

    Science.gov (United States)

    Cornel, Anthony J; Brisco, Katherine K; Tadei, Wanderli P; Secundino, Nágila Fc; Rafael, Miriam S; Galardo, Allan Kr; Medeiros, Jansen F; Pessoa, Felipe Ac; Ríos-Velásquez, Claudia M; Lee, Yoosook; Pimenta, Paulo Fp; Lanzaro, Gregory C

    2016-05-01

    Salivary gland polytene chromosomes of 4th instar Anopheles darlingi Root were examined from multiple locations in the Brazilian Amazon. Minor modifications were made to existing polytene photomaps. These included changes to the breakpoint positions of several previously described paracentric inversions and descriptions of four new paracentric inversions, two on the right arm of chromosome 3 and two on the left arm of chromosome 3 that were found in multiple locations. A total of 18 inversions on the X (n = 1) chromosome, chromosome 2 (n = 7) and 3 (n = 11) were scored for 83 individuals from Manaus, Macapá and Porto Velho municipalities. The frequency of 2Ra inversion karyotypes in Manaus shows significant deficiency of heterozygotes (p < 0.0009). No significant linkage disequilibrium was found between inversions on chromosome 2 and 3. We hypothesize that at least two sympatric subpopulations exist within the An. darlingi population at Manaus based on inversion frequencies. PMID:27223867

  17. Anopheles darlingi polytene chromosomes: revised maps including newly described inversions and evidence for population structure in Manaus

    Science.gov (United States)

    Cornel, Anthony J; Brisco, Katherine K; Tadei, Wanderli P; Secundino, Nágila FC; Rafael, Miriam S; Galardo, Allan KR; Medeiros, Jansen F; Pessoa, Felipe AC; Ríos-Velásquez, Claudia M; Lee, Yoosook; Pimenta, Paulo FP; Lanzaro, Gregory C

    2016-01-01

    Salivary gland polytene chromosomes of 4th instar Anopheles darlingi Root were examined from multiple locations in the Brazilian Amazon. Minor modifications were made to existing polytene photomaps. These included changes to the breakpoint positions of several previously described paracentric inversions and descriptions of four new paracentric inversions, two on the right arm of chromosome 3 and two on the left arm of chromosome 3 that were found in multiple locations. A total of 18 inversions on the X (n = 1) chromosome, chromosome 2 (n = 7) and 3 (n = 11) were scored for 83 individuals from Manaus, Macapá and Porto Velho municipalities. The frequency of 2Ra inversion karyotypes in Manaus shows significant deficiency of heterozygotes (p < 0.0009). No significant linkage disequilibrium was found between inversions on chromosome 2 and 3. We hypothesize that at least two sympatric subpopulations exist within the An. darlingi population at Manaus based on inversion frequencies. PMID:27223867

  18. Chromosomal inversion polymorphism in Drosophila mediopunctata: seasonal, altitudinal, and latitudinal variation

    Directory of Open Access Journals (Sweden)

    Ananina Galina

    2004-01-01

    Full Text Available The most polymorphic chromosome for inversions in Drosophila mediopunctata is the chromosome II, where 17 inversions have been found, eight of which occurring in the distal region and nine in the proximal region. We present an analysis of the chromosome II inversion polymorphism with respect to seasonal, altitudinal and latitudinal variation. In D. mediopunctata from the Parque Nacional do Itatiaia (southeastern Brazil, the frequencies of three of the distal inversions (namely DA, DS, and DP vary seasonally. These inversions also show altitudinal clines in their frequencies. This microgeographic pattern was not observed on a macrogeographic scale. D. mediopunctata from Porto Alegre are less polymorphic for inversions than other populations, the most remarkable reduction occurring in the proximal region of chromosome II. There is a considerable difference between D. mediopunctata from Campinas and specimens from Serra do Japi, which are separated by only 50 km. In contrast, D. mediopunctata from Serra do Japi are much more similar to specimens from the Parque Nacional do Itatiaia, which is 200 km far.

  19. Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

    OpenAIRE

    Frydman, M; Shabtal, F; Halbrecht, I; Elian, E

    1981-01-01

    A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.

  20. Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop.

    Science.gov (United States)

    Phelan, M C; Stevenson, R E; Anderson, E V

    1993-05-15

    Chromosomally unbalanced offspring resulting from the recombination of parental paracentric inversions are uncommon. We report on a 20-month-old boy with a partial duplication of 9p due to the recombination of a paternal paracentric inversion. The patient's recombinant chromosome was designated rec(9)(p13-->p24::p12-->p24::p12-->qter). The patient's father and paternal aunt have a paracentric inversion of chromosome 9:inv(9)(p13p24). Although several mechanisms have been proposed to explain the chromosome imbalance generated from paracentric inversions, none of the previously described mechanisms can account for the structure of the recombinant chromosome observed in the propositus. We propose an unusual mechanism of formation involving breakage and unequal reunion of sister chromatids within the inversion loop to explain the structure of the patient's recombinant chromosome. PMID:8488876

  1. Differential occurrence of chromosome inversion polymorphisms among Muller's elements in three species of the tripunctata group of Drosophila, including a species with fast chromosomal evolution.

    Science.gov (United States)

    Brianti, Mitsue T; Ananina, Galina; Klaczko, Louis B

    2013-01-01

    Detailed chromosome maps with reliable homologies among chromosomes of different species are the first step to study the evolution of the genetic architecture in any set of species. Here, we present detailed photo maps of the polytene chromosomes of three closely related species of the tripunctata group (subgenus Drosophila): Drosophila mediopunctata, D. roehrae, and D. unipunctata. We identified Muller's elements in each species, using FISH, establishing reliable chromosome homologies among species and D. melanogaster. The simultaneous analysis of chromosome inversions revealed a distribution pattern for the inversion polymorphisms among Muller's elements in the three species. Element E is the most polymorphic, with many inversions in each species. Element C follows; while the least polymorphic elements are B and D. While interesting, it remains to be determined how general this pattern is among species of the tripunctata group. Despite previous studies showing that D. mediopunctata and D. unipunctata are phylogenetically closer to each other than to D. roehrae, D. unipunctata shows rare karyotypic changes. It has two chromosome fusions: an additional heterochromatic chromosome pair and a pericentric inversion in the X chromosome. This especial conformation suggests a fast chromosomal evolution that deserves further study. PMID:23379335

  2. Widespread Impact of Chromosomal Inversions on Gene Expression Uncovers Robustness via Phenotypic Buffering.

    Science.gov (United States)

    Naseeb, Samina; Carter, Zorana; Minnis, David; Donaldson, Ian; Zeef, Leo; Delneri, Daniela

    2016-07-01

    The nonrandom gene organization in eukaryotes plays a significant role in genome evolution and function. Chromosomal structural changes impact meiotic fitness and, in several organisms, are associated with speciation and rapid adaptation to different environments. Small sized chromosomal inversions, encompassing few genes, are pervasive in Saccharomyces "sensu stricto" species, while larger inversions are less common in yeasts compared with higher eukaryotes. To explore the effect of gene order on phenotype, reproductive isolation, and gene expression, we engineered 16 Saccharomyces cerevisiae strains carrying all possible paracentric and pericentric inversions between Ty1 elements, a natural substrate for rearrangements. We found that 4 inversions were lethal, while the other 12 did not show any fitness advantage or disadvantage in rich and minimal media. At meiosis, only a weak negative correlation with fitness was seen with the size of the inverted region. However, significantly lower fertility was seen in heterozygote invertant strains carrying recombination hotspots within the breakpoints. Altered transcription was observed throughout the genome rather than being overrepresented within the inversions. In spite of the large difference in gene expression in the inverted strains, mitotic fitness was not impaired in the majority of the 94 conditions tested, indicating that the robustness of the expression network buffers the deleterious effects of structural changes in several environments. Overall, our results support the notion that transcriptional changes may compensate for Ty-mediated rearrangements resulting in the maintenance of a constant phenotype, and suggest that large inversions in yeast are unlikely to be a selectable trait during vegetative growth. PMID:26929245

  3. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion

    Energy Technology Data Exchange (ETDEWEB)

    Shashi, V.; Golden, W.L.; Allinson, P.S. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)] [and others

    1996-06-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.

  4. Excluded volume effect enhances the homology pairing of model chromosomes

    CERN Document Server

    Takamiya, Kazunori; Isami, Shuhei; Nishimori, Hiraku; Awazu, Akinori

    2015-01-01

    To investigate the structural dynamics of the homology pairing of polymers, we mod- eled the scenario of homologous chromosome pairings during meiosis in Schizosaccharomyces pombe, one of the simplest model organisms of eukaryotes. We consider a simple model consist- ing of pairs of homologous polymers with the same structures that are confined in a cylindrical container, which represents the local parts of chromosomes contained in an elongated nucleus of S. pombe. Brownian dynamics simulations of this model showed that the excluded volume effects among non-homological chromosomes and the transitional dynamics of nuclear shape serve to enhance the pairing of homologous chromosomes.

  5. Chromosomal inversions among insecticide-resistant strains of Anopheles stephensi Liston, a malaria mosquito.

    Science.gov (United States)

    Shetty, N J; Hariprasad, T P N; Sanil, D; Zin, T

    2013-11-01

    Polytene chromosomes were prepared from the ovarian nurse cells of semi-gravid females of ten insecticide-resistant strains of Anopheles stephensi. Altogether, 16 heterozygous paracentric inversions, namely b/+ (11D-16C) in alphamethrin; i/+ (14B-18A) and h/+ (27B-28A) in DDT; j/+ (14A-16B) in chlorpyrifos; k/+ (11D-16B) in cyfluthrin; l/+ (11A-16C) in deltamethrin; m/+ (14B-15C) and e/+ (32A-33B) in bifenthrin; n/+ (12D-14B), f/+ (33A-36A) and g/+ (33C-34A) in propoxur; o/+ (11A-12D), h/+ (37A-37C) and i/+ (31C-32C) in temephos; d/+ (33D-35C) in carbofuran and a/+ (41C-43B) in neem strains, were reported. No inversions were observed in X chromosome so far. The frequency of inversions in different insecticides was found to be highest in the 2R arm, followed by the 3R arm. Such inversions were not reported in the corresponding susceptible strains or in the parental stocks. PMID:23982309

  6. Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring

    Energy Technology Data Exchange (ETDEWEB)

    Shapira, S.K.; Gagos, S.; Shaffer, L.G. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1997-04-14

    We report on a case of constitutional mosaicism for a large pericentric inversion of chromosome 9 in a man whose daughter had recombinant aneusomy resulting in partial 9q duplication and partial 9p deletion. At age 6 months, the girl was evaluated because of dysmorphic congenital animal features and developmental delay. Chromosomal analysis on this infant showed a derivative chromosome 9 which was later determined to be a recombinant chromosome with trisomy of 9q34.1{r_arrow}qter and monosomy of pter{r_arrow}9p24. Chromosomal analysis in her father showed the presence of two cell lines; 75% of lymphocytes had a 46,XY pattern, and 25% had a 46,XY,inv(9)(p24q34.1) karyotype. The infant`s physical findings represent a composite of the reported cases of both trisomy 9q34.1{r_arrow}qter and monosomy pter{r_arrow}p24. The infant`s father was phenotypically and cognitively normal. This case broadens the spectrum of reported cases of mosaicism for an autosomal structural rearrangement generating unbalanced gametes, and further supports the tenet that constitutional mosaicism has clinical relevance for genetic counseling. 21 refs., 3 figs., 1 tab.

  7. Enhancing comprehensive inversions using the Swarm constellation

    DEFF Research Database (Denmark)

    Sabaka, T.J.; Olsen, Nils

    2006-01-01

    signals, as well as information about mantle conductivity structure, can be met. The recovery method used in this paper is known as comprehensive inversion (CI) and involves the parameterization of all major fields followed by a co-estimation of these parameters in a least-squares sense in order to...... structure, a more complicated magnetospheric field, and an induced field reflecting a 3-D conductivity model. These data also included realistic magnetic noise from spacecraft and payload. Though the parameterization for the CI is based upon that of CM4, modifications have been made to accommodate these new...... magnetospheric and induced fields, in particular with orthogonality constraints defined so as to avoid covariance between slowly varying induced fields and SV. The use of these constraints is made feasible through an efficient numerical implementation. Constellations of 4, 3, 2, and 1 satellites were considered...

  8. Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution

    Directory of Open Access Journals (Sweden)

    Guillén Yolanda

    2012-02-01

    Full Text Available Abstract Background Chromosomal inversions have been pervasive during the evolution of the genus Drosophila, but there is significant variation between lineages in the rate of rearrangement fixation. D. mojavensis, an ecological specialist adapted to a cactophilic niche under extreme desert conditions, is a chromosomally derived species with ten fixed inversions, five of them not present in any other species. Results In order to explore the causes of the rapid chromosomal evolution in D. mojavensis, we identified and characterized all breakpoints of seven inversions fixed in chromosome 2, the most dynamic one. One of the inversions presents unequivocal evidence for its generation by ectopic recombination between transposon copies and another two harbor inverted duplications of non-repetitive DNA at the two breakpoints and were likely generated by staggered single-strand breaks and repair by non-homologous end joining. Four out of 14 breakpoints lay in the intergenic region between preexisting duplicated genes, suggesting an adaptive advantage of separating previously tightly linked duplicates. Four out of 14 breakpoints are associated with transposed genes, suggesting these breakpoints are fragile regions. Finally two inversions contain novel genes at their breakpoints and another three show alterations of genes at breakpoints with potential adaptive significance. Conclusions D. mojavensis chromosomal inversions were generated by multiple mechanisms, an observation that does not provide support for increased mutation rate as explanation for rapid chromosomal evolution. On the other hand, we have found a number of gene alterations at the breakpoints with putative adaptive consequences that directly point to natural selection as the cause of D. mojavensis rapid chromosomal evolution.

  9. The influence of pericentric inversion in 10th chromosome on aggressive behavior and hyperactivity

    Directory of Open Access Journals (Sweden)

    Nilgun Tanriverdi

    2013-02-01

    Full Text Available Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10(p11.2;q21.2 mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10 and some behavioral problems. Additionally, molecular studies targeting 10p-q critical region will be more informative for the true identification of this disease. [Cukurova Med J 2013; 38(1.000: 108-113

  10. Enhanced Spectral Reflectance Reconstruction Using Pseudo-Inverse Estimation Method

    Directory of Open Access Journals (Sweden)

    Ibrahim El-Rifai

    2013-06-01

    Full Text Available This paper will present an enhanced approach for the reconstruction of spectral reflectance by the combination between two methods, the Pseudo-Inverse (PI as the base formula, whilst adaptively selecting the training samples as performed in the Adaptive Wiener estimation method proposed by Shen and Xin for the estimation of the spectral reflectance. This enhancement will be referred to as Adaptive Pseudo-Inverse (API through this research. Training and verification datasets have been prepared from GretagMacbeth ColorChecker CC chart, Kodak Color Chart and a specially designed palette of Japanese organic and inorganic mineral pigments to test and compare the estimation results, using the Pseudo-Inverse and Adaptive Pseudo-Inverse method. The performance of spectral reconstruction methods will be presented in terms of spectral and colorimetric error for the estimation accuracy. The experimental results showed that the proposed method achieved better performance and noticeable decline in spectral estimation error.

  11. Stimulated Brillouin scattering enhancement in silicon inverse opal waveguides

    OpenAIRE

    Smith, M. J. A.; Wolff, C; Sterke, C. Martijn de; Lapine, M.; Kuhlmey, B. T.; Poulton, C. G.

    2016-01-01

    Silicon is an ideal material for on-chip applications, however its poor acoustic properties limit its performance for important optoacoustic applications, particularly for Stimulated Brillouin Scattering (SBS). We theoretically show that silicon inverse opals exhibit a strongly improved acoustic performance that enhances the bulk SBS gain coefficient by more than two orders of magnitude. We also design a waveguide that incorporates silicon inverse opals and which has SBS gain values that are ...

  12. Enhanced reflection from inverse tapered nanocone arrays

    Energy Technology Data Exchange (ETDEWEB)

    Kong, Xiang-Tian; Dai, Qing, E-mail: daiq@nanoctr.cn [National Center for Nanoscience and Technology, Beijing 100190 (China); Butt, Haider, E-mail: h.butt@bham.ac.uk; Deng, Sunan [School of Mechanical Engineering, University of Birmingham, Edgbaston, Birmingham B15 2TT (United Kingdom); Yetisen, Ali K.; Cruz Vasconcellos, Fernando da [Department of Chemical Engineering and Biotechnology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QT (United Kingdom); Kangwanwatana, Chuan; Montelongo, Yunuen; Qasim, Malik M.; Wilkinson, Timothy D. [Electrical Engineering Division, Department of Engineering, University of Cambridge, Cambridge CB3 0FA (United Kingdom)

    2014-08-04

    We computationally and experimentally demonstrate enhanced reflection effects displayed by silicon-based inverted nanocone arrays. A 3D finite element model is used to characterize the optical properties of the nanocone arrays with respect to the change in polarization and incident angles. The nanocone arrays are fabricated by e-beam lithography in hexagonal and triangular geometries with a lattice constant of 300 nm. The fabricated devices show a two-fold increase in reflection compared with bare silicon surface, as well as a strong diffraction within the visible and near-infrared spectra. The nanocone arrays may find a variety of applications from optical devices to energy conservation technologies.

  13. Third Chromosome Balancer Inversions Disrupt Protein-Coding Genes and Influence Distal Recombination Events in Drosophila melanogaster

    Directory of Open Access Journals (Sweden)

    Danny E. Miller

    2016-07-01

    Full Text Available Balancer chromosomes are multiply inverted chromosomes that suppress meiotic crossing over and prevent the recovery of crossover products. Balancers are commonly used in Drosophila melanogaster to maintain deleterious alleles and in stock construction. They exist for all three major chromosomes, yet the molecular location of the breakpoints and the exact nature of many of the mutations carried by the second and third chromosome balancers has not been available. Here, we precisely locate eight of 10 of the breakpoints on the third chromosome balancer TM3, six of eight on TM6, and nine of 11 breakpoints on TM6B. We find that one of the inversion breakpoints on TM3 bisects the highly conserved tumor suppressor gene p53—a finding that may have important consequences for a wide range of studies in Drosophila. We also identify evidence of single and double crossovers between several TM3 and TM6B balancers and their normal-sequence homologs that have created genetic diversity among these chromosomes. Overall, this work demonstrates the practical importance of precisely identifying the position of inversion breakpoints of balancer chromosomes and characterizing the mutant alleles carried by them.

  14. Localized remodeling of the Escherichia coli chromosome: the patchwork of segments refractory and tolerant to inversion near the replication terminus.

    Science.gov (United States)

    Guijo, M I; Patte, J; del Mar Campos, M; Louarn, J M; Rebollo, J E

    2001-01-01

    The behavior of chromosomal inversions in Escherichia coli depends upon the region they affect. Regions flanking the replication terminus have been termed nondivisible zones (NDZ) because inversions ending in the region were either deleterious or not feasible. This regional phenomenon is further analyzed here. Thirty segments distributed between 23 and 29 min on the chromosome map have been submitted to an inversion test. Twenty-five segments either became deleterious when inverted or were noninvertible, but five segments tolerated inversion. The involvement of polar replication pause sites in this distribution was investigated. The results suggest that the Tus/pause site system may forbid some inversion events, but that other constraints to inversion, unrelated to this system, exist. Our current model for deleterious inversions is that the segments involved carry polar sequences acting in concert with other polar sequences located outside the segments. The observed patchwork of refractory and tolerant segments supports the existence of several NDZs in the 23- to 29-min region. Microscopic observations revealed that deleterious inversions are associated with high frequencies of abnormal nucleoid structure and distribution. Combined with other information, the data suggest that NDZs participate in the organization of the terminal domain of the nucleoid. PMID:11290700

  15. Stimulated Brillouin scattering enhancement in silicon inverse opal waveguides

    CERN Document Server

    Smith, M J A; de Sterke, C Martijn; Lapine, M; Kuhlmey, B T; Poulton, C G

    2016-01-01

    Silicon is an ideal material for on-chip applications, however its poor acoustic properties limit its performance for important optoacoustic applications, particularly for Stimulated Brillouin Scattering (SBS). We theoretically show that silicon inverse opals exhibit a strongly improved acoustic performance that enhances the bulk SBS gain coefficient by more than two orders of magnitude. We also design a waveguide that incorporates silicon inverse opals and which has SBS gain values that are comparable with chalcogenide glass waveguides. This research opens new directions for opto-acoustic applications in on-chip material systems.

  16. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

    Science.gov (United States)

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

    2013-01-01

    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. PMID:23884766

  17. Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities

    Directory of Open Access Journals (Sweden)

    Suzuki Hiroetsu

    2009-09-01

    Full Text Available Abstract Background Koala (Koa is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inversion with a genetic method using recombination between two different chromosomal inversions. Results Skeletal preparation of Koa homozygotes showed marked deformity of the ribs and a wider skull with extended zygomatic arches, in addition to a general reduction in the lengths of long bones. They also had open eyelids at birth caused by a defect in the extension of eyelid anlagen during the embryonic stages. The proximal and distal breakpoints of the Koa inversion were determined to be 0.8-Mb distal to the Trsps1 gene and to 0.1-Mb distal to the Hoxc4 gene, respectively, as previously reported. The phenotypes of mice with the recombinant inverted chromosomes revealed the localization of the gene responsible the Koa phenotype in the vicinity of the proximal recombinant breakpoint. Expression of the Trsps1 gene in this region was significantly reduced in the Koa homozygous and heterozygous embryos. Conclusion While no gene was disrupted by the chromosomal inversion, an association between the Koa phenotype and the proximal recombinant breakpoint, phenotypic similarities with Trps1-deficient mice or human patients with TRSP1 mutations, and the reduced expression of the Trsps1 gene in Koa mice, indicated that the phenotypes of the Koa mice are caused by the altered expression of the Trps1 gene.

  18. Population structure of newly established Anopheles funestus populations in the Senegal River basin using paracentric chromosomal inversions.

    Science.gov (United States)

    Dia, Ibrahima; Samb, Badara; Konate, Lassana; Fontenille, Didier

    2010-01-01

    Anopheles funestus is one of the major vectors of malaria in sub-saharan Africa. Because of several cycles of recurrent drought events that have occurred in the sahelian zone, this species had disappeared from this area since the 1970s following a disappearance of its specific breeding sites. Its comeback was, however, recently observed particularly in the Senegal River basin following the implementation of two dams. Because the implementation of hydro-agricultural and irrigation settings are suspected to be involved in the reestablishment of An. funestus populations and that paracentric inversions are involved in the adaptation to various environments, the present study was undertaken in 3 villages of the Senegal River basin (Keur Mbaye, Mbilor and Gankette Balla), (i) to study the chromosomal polymorphism of the newly established An. funestus populations in the Senegal River basin using paracentic inversions from ovarian nurse cells and (ii) their relationship with other populations of this species located in different environmental contexts (Dielmo in sudanian zone, Sankagne and Kouvar in northern sudano-guinean zone and Ngari in southern sudano-guinean zone) in order to know the key factors leading to their reestablishment in this area. Our results showed that the newly established An. funestus populations' exhibit low level of chromosomal polymorphism with two chromosomal inversions (the fixed 2Rs and the polymorphic 3La) out of the 9 paracentric inversions described up to now in An. funestus in Senegal. At population level, no significant deviation from Hardy-Weinberg equilibrium was observed for almost all inversions. Furthermore, significant genetic differentiation was revealed between the populations from the Senegal River basin and those from the sudanian and southern sudano-guinean zones and was not linked to geographical distance. However, the populations from the Senegal River basin were close or slightly differentiated to those from the northern

  19. A Geophysical Inversion Model Enhancement Technique Based on the Blind Deconvolution

    Science.gov (United States)

    Zuo, B.; Hu, X.; Li, H.

    2011-12-01

    A model-enhancement technique is proposed to enhance the geophysical inversion model edges and details without introducing any additional information. Firstly, the theoretic correctness of the proposed geophysical inversion model-enhancement technique is discussed. An inversion MRM (model resolution matrix) convolution approximating PSF (Point Spread Function) method is designed to demonstrate the correctness of the deconvolution model enhancement method. Then, a total-variation regularization blind deconvolution geophysical inversion model-enhancement algorithm is proposed. In previous research, Oldenburg et al. demonstrate the connection between the PSF and the geophysical inverse solution. Alumbaugh et al. propose that more information could be provided by the PSF if we return to the idea of it behaving as an averaging or low pass filter. We consider the PSF as a low pass filter to enhance the inversion model basis on the theory of the PSF convolution approximation. Both the 1D linear and the 2D magnetotelluric inversion examples are used to analyze the validity of the theory and the algorithm. To prove the proposed PSF convolution approximation theory, the 1D linear inversion problem is considered. It shows the ratio of convolution approximation error is only 0.15%. The 2D synthetic model enhancement experiment is presented. After the deconvolution enhancement, the edges of the conductive prism and the resistive host become sharper, and the enhancement result is closer to the actual model than the original inversion model according the numerical statistic analysis. Moreover, the artifacts in the inversion model are suppressed. The overall precision of model increases 75%. All of the experiments show that the structure details and the numerical precision of inversion model are significantly improved, especially in the anomalous region. The correlation coefficient between the enhanced inversion model and the actual model are shown in Fig. 1. The figure

  20. Down syndrome due to a recombination of a chromosome 21 paracentric inversion in 1 of 2 cases with a review of paracentric recombinants

    Energy Technology Data Exchange (ETDEWEB)

    Jewett, T.; Rao, P.N.; Berry, M. [Wake Forest Univ., Winston-Salem, NC (United States)] [and others

    1994-09-01

    We recently identified 2 paracentric inversions (PAI) of chromosome 21. Case 1 was identified prenatally and paternally inherited: 46,XY,inv(21)(q21.2q22.13). The outcome is pending. Case 2 was a newborn male infant with clinical features of Down syndrome and an apparent inversion-duplication within chromosome 21. Parental chromosome analysis showed a maternal PAI: 46,XX,inv(21)(q21.2q22.3). The resulting child`s karyotype was: 46,XY,rec(21)(pter{yields}q21.2::q22.3{yields}q21.2::q22.3{yields}pter). Duplication of chromosome region q22.3{yields}qter was confirmed by FISH using a Down syndrome region specific probe (Cambio). Cytologically, the cornerstone of meiotic recombination from a paracentric inversion is the {open_quotes}reverse loop{close_quotes} model. In this model, a crossover event in the inversion loop results in the formation of gametes carrying either a dicentric chromatid, an acentric fragment, a normal chromatid or a chromatid with an inversion. However, a literature review of 326 PAI identified only 2 dicentrics and 15 other recombinants: 1 duplication/deletion; 6 deletions; 8 duplications. A U-type exchange model during meiosis within the inversion loop may best account for duplication/deletion recombinants. In contrast, the recombination in our case 2 would have occurred outside the loop. It is possible that no single explanation for PAI recombination may account for all outcomes. Alternative models of PAI recominational events will be presented. The literature suggests a low risk for prenatal loss due to abnormal PAI recombinants. In our review, viable offspring with recombinant chromosomes occurred in 3.8% of the PAI. Considering the potential for an increased incidence of recombination, prenatal diagnosis for all PAI carriers is warranted.

  1. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

    OpenAIRE

    Devillard, Françoise; Guinchat, Vincent; Moreno-De-Luca, Daniel; Tabet, Anne-Claude; Gruchy, Nicolas; Guillem, Pascale; Nguyen Morel, Marie-Ange; Leporrier, Nathalie; Leboyer, Marion; Jouk, Pierre-Simon; Lespinasse, James; Betancur, Catalina

    2010-01-01

    We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirm...

  2. Chromosome inversions in lymphocytes of prostate cancer patients treated with X-rays and carbon ions

    International Nuclear Information System (INIS)

    Background and purpose: To investigate the cytogenetic damage of the intrachange type in peripheral blood lymphocytes of patients treated for prostate cancer with different radiation qualities. Material and methods: Prostate cancer patients were enrolled in a clinical trial based at the Heidelberg University Hospital and at the GSI Helmholtz Centre for Heavy Ion Research in 2006. Patients were treated either with intensity-modulated radiation therapy (IMRT) alone or with a carbon-ion boost followed by IMRT. Blood samples were collected at the end of the therapy and the mBAND technique was used to investigate the cytogenetic damage of the inter and intrachange types. Moreover, the mBAND analysis was performed on healthy donor cells irradiated in vitro with X-rays or C-ions. Results: Our results show no statistically significant differences in the yield and the spectrum of chromosome aberrations among patients treated only with IMRT and patients receiving the combined treatment when similar target volumes and doses to the target are compared. Conclusion: The study suggests that the risks of normal tissue late effects and second malignancies in prostate cancer patients are comparable when heavy ions or IMRT radiotherapy are applied

  3. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

    Science.gov (United States)

    Watson, Christopher M; Crinnion, Laura A; Harrison, Sally M; Lascelles, Carolina; Antanaviciute, Agne; Carr, Ian M; Bonthron, David T; Sheridan, Eamonn

    2016-01-01

    Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxial syndactyly of the feet and bilateral fifth finger clinodactyly. This was presumed to be an autosomal recessive syndrome, due to the family history of consanguinity. Karyotype analysis revealed a homozygous pericentric inversion of chromosome 7 (46,XX,inv(7)(p15q21)x2) which was confirmed to be heterozygous in both unaffected parents. Since the resolution of the karyotype was insufficient to identify any putatively causative gene, we undertook medium-coverage whole genome sequencing using paired-end reads, in order to elucidate the molecular breakpoints. In a two-step analysis, we first narrowed down the region by identifying discordant read-pairs, and then determined the precise molecular breakpoint by analysing the mapping locations of "soft-clipped" breakpoint-spanning reads. PCR and Sanger sequencing confirmed the identified breakpoints, both of which were located in intergenic regions. Significantly, the 7p15 breakpoint was located 523 kb upstream of HOXA13, the locus for hand-foot-genital syndrome. By inference from studies of HOXA locus control in the mouse, we suggest that the inversion has delocalised a HOXA13 enhancer to produce the phenotype observed in our patient. This study demonstrates how modern genetic diagnostic approach can characterise structural variants at nucleotide resolution and provide potential insights into functional regulation. PMID:27272187

  4. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

    Directory of Open Access Journals (Sweden)

    Christopher M Watson

    Full Text Available Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxial syndactyly of the feet and bilateral fifth finger clinodactyly. This was presumed to be an autosomal recessive syndrome, due to the family history of consanguinity. Karyotype analysis revealed a homozygous pericentric inversion of chromosome 7 (46,XX,inv(7(p15q21x2 which was confirmed to be heterozygous in both unaffected parents. Since the resolution of the karyotype was insufficient to identify any putatively causative gene, we undertook medium-coverage whole genome sequencing using paired-end reads, in order to elucidate the molecular breakpoints. In a two-step analysis, we first narrowed down the region by identifying discordant read-pairs, and then determined the precise molecular breakpoint by analysing the mapping locations of "soft-clipped" breakpoint-spanning reads. PCR and Sanger sequencing confirmed the identified breakpoints, both of which were located in intergenic regions. Significantly, the 7p15 breakpoint was located 523 kb upstream of HOXA13, the locus for hand-foot-genital syndrome. By inference from studies of HOXA locus control in the mouse, we suggest that the inversion has delocalised a HOXA13 enhancer to produce the phenotype observed in our patient. This study demonstrates how modern genetic diagnostic approach can characterise structural variants at nucleotide resolution and provide potential insights into functional regulation.

  5. Enhancement of the number of fast electrons generated in a laser inverse cone interaction

    International Nuclear Information System (INIS)

    Enhancement of the energy-conversion efficiency from laser to target electrons is demonstrated by two-dimensional particle-in-cell simulations in a laser-inverse cone interaction. When an intense short-pulse laser illuminates the inverse cone target, the electrons at the cone end are accelerated by the ponderomotive force. Then these electrons are guided and confined to transport along the inverse cone walls by the induced electromagnetic fields. A device consisting of inverse hollow-cone and multihole array plasma is proposed in order to increase the energy-conversion efficiency from laser to electrons. Particle-in-cell simulations present that the multiholes transpiercing the cone end help to enhance the number of fast electrons and the maximum electron energy significantly. (authors)

  6. Enhancement of the Number of Fast Electrons Generated in a Laser Inverse Cone Interaction

    International Nuclear Information System (INIS)

    Enhancement of the energy-conversion efficiency from laser to target electrons is demonstrated by two-dimensional particle-in-cell simulations in a laser-inverse cone interaction. When an intense short-pulse laser illuminates the inverse cone target, the electrons at the cone end are accelerated by the ponderomotive force. Then these electrons are guided and confined to transport along the inverse cone walls by the induced electromagnetic fields. A device consisting of inverse hollow-cone and multihole array plasma is proposed in order to increase the energy-conversion efficiency from laser to electrons. Particle-in-cell simulations present that the multiholes transpiercing the cone end help to enhance the number of fast electrons and the maximum electron energy significantly. (physics of gases, plasmas, and electric discharges)

  7. Are submicroscopic chromosomal inversions predisposing factors for the t(9;22)(q34;q11.2) translocation in chronic myeloid leukemia?

    OpenAIRE

    González García, Juan Ramón; Cruz, Martín Daniel Domínguez; Gutiérrez, César Borjas

    2015-01-01

    A complex chromosomal rearrangement observed in a patient with chronic myeloid leukemia was explained as the consequence of a multistep process. The explanation involved an initial t(9;22) translocation with breakpoints distant from the BCR and ABL1 genes followed by genomic deletions that produced the BCR-ABL1 hybrid gene. We present an alternative model that fits the origin of the patient’s rearrangement better. The present model links submicroscopic inversions with the occurrence of the t(...

  8. Protoneus-sequence: extended fluid-attenuated inversion recovery MR imaging without and with contrast enhancement

    Energy Technology Data Exchange (ETDEWEB)

    Nasel, Christian [Division of Neuroradiology, Department of Radiology, Medical University of Vienna, Waehringerguertel 18-20, A-1090 Vienna (Austria)]. E-mail: christian.nasel@perfusion.at

    2005-08-01

    Fluid-attenuated inversion recovery imaging (=flair imaging) is widely used as primary screening sequence in various investigation protocols, due to its high lesion contrast and sensitivity in detection of parenchymatous and leptomeningeal disease. An additional increase of sensitivity for detection of lesions may be achieved by contrast-enhanced flair imaging. Based on flair imaging a dual-echo inversion recovery imaging sequence (=proton echo usage [=protoneus] - sequence) was developed, which could significantly extend the possibilities of conventional flair imaging.

  9. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    Energy Technology Data Exchange (ETDEWEB)

    Zachor, D.A.; Lofton, M. [Univ. of Alabama, Birmingham (United States)

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  10. Enhancement of aluminum tolerance in wheat by addition of chromosomes from the wild relative Leymus racemosus.

    Science.gov (United States)

    Mohammed, Yasir Serag Alnor; Eltayeb, Amin Elsadig; Tsujimoto, Hisashi

    2013-12-01

    Aluminum (Al) toxicity is the key factor limiting wheat production in acid soils. Soil liming has been used widely to increase the soil pH, but due to its high cost, breeding tolerant cultivars is more cost-effective mean to mitigate the problem. Tolerant cultivars could be developed by traditional breeding, genetic transformation or introgression of genes from wild relatives. We used 30 wheat alien chromosome addition lines to identify new genetic resources to improve wheat tolerance to Al and to identify the chromosomes harboring the tolerance genes. We evaluated these lines and their wheat background Chinese Spring for Al tolerance in hydroponic culture at various Al concentrations. We also investigated Al uptake, oxidative stress and cell membrane integrity. The L. racemosus chromosomes A and E significantly enhanced the Al tolerance of the wheat in term of relative root growth. At the highest Al concentration tested (200 μM), line E had the greatest tolerance. The introgressed chromosomes did not affect Al uptake of the tolerant lines. We attribute the improved tolerance conferred by chromosome E to improved cell membrane integrity. Chromosome engineering with these two lines could produce Al-tolerant wheat cultivars. PMID:24399913

  11. Enhanced tree-classifier performance by inversion with application to pap smear screening data

    Science.gov (United States)

    Chen, E. T. Y.; Lee, James; Nelson, Alan C.

    1993-07-01

    In this paper, we present an inversion method to enhance a binary decision tree classifier using boundary search of training samples. We want to enhance the training at those points which are close to the boundaries. Selection of these points is based on the Euclidean distance from those centroids close to classification boundaries. The enhanced training using these selected data was compared with training using randomly selected samples. We also applied this method to improve the classification of pap smear screening data.

  12. Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kuforjii, T.A.; Pillers, D.M.; Silberbach, M. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1994-09-01

    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease that is uniformly fatal without surgical intervention. Fetal echocardiography allows prenatal diagnosis, but this condition may not become apparent until after the mid-second trimester. We report a term baby with severe HLHS who had an 18 week fetal ultrasound that reportedly demonstrated a normal heart. There was no family history of congenital heart disease. She was phenotypically female with no dysmorphic features. Physical examination was otherwise normal. She expired at 48 hours of age. The autopsy was noncontributory. The karyotype was 46,XX, but there was an apparently balanced paracentric inversion of the long arm of chromosome 7 (46,XX,inv(7)(q21.2q22)). The mother`s chromosome study was normal without any inversion, and the father was not available for study. Hypoplastic left heart syndrome has been associated with extracardiac anomalies and chromosomal abnormalities including 45,XO,11q-, and trisomy 18. It has also been reported in 5 members spanning 3 generations of a family with a spectrum of left heart defects suggesting an autosomal dominant pattern with high penetrance. First-degree relatives of infants with HLHS have a thirteen percent incidence of related cardiovascular malformations, a frequency higher than predicted by a multifactorial model of inheritance, suggesting that at least a portion of HLHS have a genetic basis. Karyotype analysis, including high resolution banding, may help define the etiology of this condition. Chromosome 7 has not been implicated in HLHS. This case emphasizes the need for genetic analysis, including a pedigree, of affected families. It also underscores the importance of screening by karyotype analysis to determine whether defects of the long arm of chromosome 7 are important in the pathogenesis of hypoplastic left heart syndrome.

  13. Probabilistic 3-D time-lapse inversion of magnetotelluric data: application to an enhanced geothermal system

    Science.gov (United States)

    Rosas-Carbajal, M.; Linde, N.; Peacock, J.; Zyserman, F. I.; Kalscheuer, T.; Thiel, S.

    2015-12-01

    Surface-based monitoring of mass transfer caused by injections and extractions in deep boreholes is crucial to maximize oil, gas and geothermal production. Inductive electromagnetic methods, such as magnetotellurics, are appealing for these applications due to their large penetration depths and sensitivity to changes in fluid conductivity and fracture connectivity. In this work, we propose a 3-D Markov chain Monte Carlo inversion of time-lapse magnetotelluric data to image mass transfer following a saline fluid injection. The inversion estimates the posterior probability density function of the resulting plume, and thereby quantifies model uncertainty. To decrease computation times, we base the parametrization on a reduced Legendre moment decomposition of the plume. A synthetic test shows that our methodology is effective when the electrical resistivity structure prior to the injection is well known. The centre of mass and spread of the plume are well retrieved. We then apply our inversion strategy to an injection experiment in an enhanced geothermal system at Paralana, South Australia, and compare it to a 3-D deterministic time-lapse inversion. The latter retrieves resistivity changes that are more shallow than the actual injection interval, whereas the probabilistic inversion retrieves plumes that are located at the correct depths and oriented in a preferential north-south direction. To explain the time-lapse data, the inversion requires unrealistically large resistivity changes with respect to the base model. We suggest that this is partly explained by unaccounted subsurface heterogeneities in the base model from which time-lapse changes are inferred.

  14. Enhancement of chromosomal damage in human lymphocytes irradiated with X rays in the presence of iodine

    International Nuclear Information System (INIS)

    The production of chromosomal aberrations resulting from X irradiation of peripheral human blood lymphocytes in the presence or absence of Angioconray-80%, an iodised contrast medium, was investigated. This experiment confirmed an enhanced radiation effect, which is essentially explained by the increase of absorbed dose due to the high photoelectric cross section of iodine for X rays. Nevertheless the cytotoxicity of contrast medium alone cannot be neglected, and at a 0.1 M concentration in unirradiated blood it produced chromosome damage equivalent to 0.5 Gy. The distributions of aberrations among the cells, with and without contrast medium, were analysed using two statistical tests of goodness-of-fit for the Poissonian distribution. The results are discussed mostly in terms of dose enhancement factors. (author)

  15. Twin Pregnancy Obtention of Patient with Nonmosaic Klinefelter’s Syndrome and His Wife with Chromosome 9 Inversion by ICSI Treatment

    Directory of Open Access Journals (Sweden)

    Yueyue Hu

    2013-01-01

    Full Text Available A 24-year-old man was diagnosed with klinefelter’s syndrome (KS and his wife wasfound to have an inversion on chromosome 9-46, XX, inv (9 (p11q21- because of infertility.Intracytoplasmic sperm injection (ICSI was performed for fertilization after fluorescencein-situ hybridization (FISH was used to analyze the aneuploidy rate of the Xand Y chromosomes of the ejaculated sperms of the patient, and 99 sperms were haploidamong 100 sperms that were to be analyzed. A twin pregnancy was achieved. The chromosomesof the two fetuses were identified as 46, XY and 46, XY, inv (9(p11q21 after aprenatal diagnosis at 18 weeks gestation. Two healthy twins were born through caesareansection at 32 weeks gestation because of premature rupture of membranes (PROM.

  16. Non-contrast-enhanced renal and abdominal MR angiography using velocity-selective inversion preparation.

    Science.gov (United States)

    Shin, Taehoon; Worters, Pauline W; Hu, Bob S; Nishimura, Dwight G

    2013-05-01

    Non-contrast-enhanced MR angiography is a promising alternative to the established contrast-enhanced approach as it reduces patient discomfort and examination costs and avoids the risk of nephrogenic systemic fibrosis. Inflow-sensitive slab-selective inversion recovery imaging has been used with great promise, particularly for abdominal applications, but has limited craniocaudal coverage due to inflow time constraints. In this work, a new non-contrast-enhanced MR angiography method using velocity-selective inversion preparation is developed and applied to renal and abdominal angiography. Based on the excitation k-space formalism and Shinnar-Le-Roux transform, a velocity-selective excitation pulse is designed that inverts stationary tissues and venous blood while preserving inferiorly flowing arterial blood. As the magnetization of the arterial blood in the abdominal aorta and iliac arteries is well preserved during the magnetization preparation, artery visualization over a large abdominal field of view is achievable with an inversion delay time that is chosen for optimal background suppression. Healthy volunteer tests demonstrate that the proposed method significantly increases the extent of visible arteries compared with the slab-selective approach, covering renal arteries through iliac arteries over a craniocaudal field of view of 340 mm. PMID:22711643

  17. Linkage disequilibrium network analysis (LDna) gives a global view of chromosomal inversions, local adaptation and geographic structure

    Czech Academy of Sciences Publication Activity Database

    Kemppainen, Petri; Knight, C. G.; Sarma, D. K.; Hlaing, T.; Prakash, A.; Maung, Y. N. M.; Somboon, P.; Mahanta, J.; Walton, C.

    2015-01-01

    Roč. 15, č. 5 (2015), s. 1031-1045. ISSN 1755-098X R&D Projects: GA MŠk EE2.3.20.0303 Institutional support: RVO:68081766 Keywords : Anopheles dirus * Anopheles gambiae * chromosomal rearrangement * graph theory * landscape genomics * R package Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.712, year: 2014

  18. Contrast-enhanced fast fluid-attenuated inversion recovery MR imaging in patients with brain tumors

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chan Kyo; Na, Dong Gyu; Ryoo, Wook Jae; Byun Hong Sik; Yoon, Hye Kyung; Kim, Jong hyun [Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul (Korea, Republic of)

    2000-09-01

    To assess the feasibility of contrast-enhanced fast fluid-attenuated inversion recovery (fast FLAIR) MR imaging in patients with brain tumors. This study involved 31 patients with pathologically proven brain tumors and nine with clinically diagnosed metastases. In all patients, T2-weighted, fast FLAIR, images were visual contrast-enhanced T1-weighted MR images were obtained. Contrast-enhanced fast FLAIR images were visually compared with other MR sequences in terms of tumor conspicuity. In order to distinguish tumor and surrounding edema, contrast-enhanced fast FLAIR images were compared with fast FLAIR and T2-weighted images. The tumor-to- white matter contrast-to-noise ratios (CNRs), as demonstrated by T2-weighted, fast FLAIR, contrast-enhanced fast FLAIR and contrast-enhanced T1-weighted imaging, were quantitatively assessed and compared. For the visual assessment of tumor conspicuity, contrast-enhanced fast FLAIR image imaging superior to fast FLAIR in 60% of cases (24/40), and superior to T2-weighted in 70% (28/40). Contrast-enhanced fast FLAIR imaging was inferior to contrast-enhanced T1-weighted in 58% of cases (23/40). For distinguishing between tumor and surrounding edema, contrast-enhanced fast FLAIR imaging was superior to fast FLAIR or T2-weighted in 22 of 27 tumors with peritumoral edema (81%). Quantitatively, CNR was the highest on contrast-enhanced fast FLAIR image and the lowest on fast FLAIR. For the detection of leptomeningeal metastases, contrast-enhanced fast FLAIR was partially superior to contrast-enhanced T1-weighted imaging in two of three high-grade gliomas. Although contrast-enhanced fast FLAIR imaging should not be seen as a replacement for conventional modalities, it provides additional informaton for assessment of the extent of glial cell tumors and leptomeningeal metastases in patients with brain tumors. (author)

  19. Contrast-enhanced fast fluid-attenuated inversion recovery MR imaging in patients with brain tumors

    International Nuclear Information System (INIS)

    To assess the feasibility of contrast-enhanced fast fluid-attenuated inversion recovery (fast FLAIR) MR imaging in patients with brain tumors. This study involved 31 patients with pathologically proven brain tumors and nine with clinically diagnosed metastases. In all patients, T2-weighted, fast FLAIR, images were visual contrast-enhanced T1-weighted MR images were obtained. Contrast-enhanced fast FLAIR images were visually compared with other MR sequences in terms of tumor conspicuity. In order to distinguish tumor and surrounding edema, contrast-enhanced fast FLAIR images were compared with fast FLAIR and T2-weighted images. The tumor-to- white matter contrast-to-noise ratios (CNRs), as demonstrated by T2-weighted, fast FLAIR, contrast-enhanced fast FLAIR and contrast-enhanced T1-weighted imaging, were quantitatively assessed and compared. For the visual assessment of tumor conspicuity, contrast-enhanced fast FLAIR image imaging superior to fast FLAIR in 60% of cases (24/40), and superior to T2-weighted in 70% (28/40). Contrast-enhanced fast FLAIR imaging was inferior to contrast-enhanced T1-weighted in 58% of cases (23/40). For distinguishing between tumor and surrounding edema, contrast-enhanced fast FLAIR imaging was superior to fast FLAIR or T2-weighted in 22 of 27 tumors with peritumoral edema (81%). Quantitatively, CNR was the highest on contrast-enhanced fast FLAIR image and the lowest on fast FLAIR. For the detection of leptomeningeal metastases, contrast-enhanced fast FLAIR was partially superior to contrast-enhanced T1-weighted imaging in two of three high-grade gliomas. Although contrast-enhanced fast FLAIR imaging should not be seen as a replacement for conventional modalities, it provides additional informaton for assessment of the extent of glial cell tumors and leptomeningeal metastases in patients with brain tumors. (author)

  20. Inference of chromosomal inversion dynamics from Pool-Seq data in natural and laboratory populations of Drosophila melanogaster.

    Science.gov (United States)

    Kapun, Martin; van Schalkwyk, Hester; McAllister, Bryant; Flatt, Thomas; Schlötterer, Christian

    2014-04-01

    Sequencing of pools of individuals (Pool-Seq) represents a reliable and cost-effective approach for estimating genome-wide SNP and transposable element insertion frequencies. However, Pool-Seq does not provide direct information on haplotypes so that, for example, obtaining inversion frequencies has not been possible until now. Here, we have developed a new set of diagnostic marker SNPs for seven cosmopolitan inversions in Drosophila melanogaster that can be used to infer inversion frequencies from Pool-Seq data. We applied our novel marker set to Pool-Seq data from an experimental evolution study and from North American and Australian latitudinal clines. In the experimental evolution data, we find evidence that positive selection has driven the frequencies of In(3R)C and In(3R)Mo to increase over time. In the clinal data, we confirm the existence of frequency clines for In(2L)t, In(3L)P and In(3R)Payne in both North America and Australia and detect a previously unknown latitudinal cline for In(3R)Mo in North America. The inversion markers developed here provide a versatile and robust tool for characterizing inversion frequencies and their dynamics in Pool-Seq data from diverse D. melanogaster populations. PMID:24372777

  1. Retinal Image Enhancement Using Robust Inverse Diffusion Equation and Self-Similarity Filtering

    Science.gov (United States)

    Fu, Shujun; Xu, Lingzhong; Zhao, Kun; Zhang, Caiming

    2016-01-01

    As a common ocular complication for diabetic patients, diabetic retinopathy has become an important public health problem in the world. Early diagnosis and early treatment with the help of fundus imaging technology is an effective control method. In this paper, a robust inverse diffusion equation combining a self-similarity filtering is presented to detect and evaluate diabetic retinopathy using retinal image enhancement. A flux corrected transport technique is used to control diffusion flux adaptively, which eliminates overshoots inherent in the Laplacian operation. Feature preserving denoising by the self-similarity filtering ensures a robust enhancement of noisy and blurry retinal images. Experimental results demonstrate that this algorithm can enhance important details of retinal image data effectively, affording an opportunity for better medical interpretation and subsequent processing. PMID:27388503

  2. Cadmium chloride strongly enhances cyclophosphamide-induced chromosome aberrations in mouse bone marrow cells

    Energy Technology Data Exchange (ETDEWEB)

    Pandurangarao, V.L.; Blazina, S.; Bherje, R. [Western Michigan Univ., Kalamazoo, MI (United States)] [and others

    1997-10-01

    Earlier we reported that a single 5 mg cadmium chloride (CdCl{sub 2})/kg ip dose enhanced chromosome aberrations (ca) with 50 mg/kg cyclophosphamide (CP) in mouse bone marrow cells. In this report groups of 4 mice were injected ip with saline, 0.31, 0.62, 1.25, 2.5 or 5.0 mg/kg CdCl{sub 2}, followed by saline injections at 24 h. Other mice similarly uninjected at 0 h were injected with 50 mg/kg CP at 24 h. All the mice were injected ip with 4 mg colchicine/kg at 44 h. At 48 h the bone marrow cells were processed for chromosome spreads. After dissection, visual examination revealed obvious internal hemorrhaging of the testes at 1.25 CdCl{sub 2} mg/kg and higher doses. This effect was not further increased by CP treatment. The lowest ca enhancing dose of CdCl{sub 2} on CP was 0.625 mg/kg. Our hypothesis is that Cd replaces zinc presents in numerous DNA repair enzymes and proteins resulting in diminished repair. Subsequently, the excess of unrepaired DNA damage is seen as chromatid breaks, deletions, fragments and exchanges.

  3. Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla

    International Nuclear Information System (INIS)

    This contribution presents a magnetic resonance imaging (MRI) acquisition technique named Tissue Border Enhancement (TBE), whose purpose is to produce images with enhanced visualization of borders between two tissues of interest without any post-processing. The technique is based on an inversion recovery sequence that employs an appropriate inversion time to produce images where the interface between two tissues of interest is hypo-intense; therefore, tissue borders are clearly represented by dark lines. This effect is achieved by setting imaging parameters such that two neighboring tissues of interest have magnetization with equal magnitude but opposite sign; therefore, the voxels containing a mixture of each tissue (that is, the tissue interface) possess minimal net signal. The technique was implemented on a 7.0 T MRI system. This approach can assist the definition of tissue borders, such as that between cortical gray matter and white matter; therefore, it could facilitate segmentation procedures, which are often challenging on ultra-high-field systems due to inhomogeneous radiofrequency distribution. TBE allows delineating the contours of structural abnormalities, and its capabilities were demonstrated with patients with focal cortical dysplasia, gray matter heterotopia, and polymicrogyria. This technique provides a new type of image contrast and has several possible applications in basic neuroscience, neurogenetic research, and clinical practice, as it could improve the detection power of MRI in the characterization of cortical malformations, enhance the contour of small anatomical structures of interest, and facilitate cortical segmentation. (orig.)

  4. Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla

    Energy Technology Data Exchange (ETDEWEB)

    Costagli, Mauro; Tiberi, Gianluigi [Imago7 Foundation, Pisa (Italy); IRCCS Stella Maris, Pisa (Italy); Kelley, Douglas A.C. [GE Healthcare Technologies, San Francisco, CA (United States); Symms, Mark R. [GE Applied Science Laboratory, Pisa (Italy); Biagi, Laura; Tosetti, Michela [IRCCS Stella Maris, Pisa (Italy); Stara, Riccardo; Cosottini, Mirco [Imago7 Foundation, Pisa (Italy); University of Pisa, Pisa (Italy); Maggioni, Eleonora [IRCCS Scientific Institute E. Medea, Bosisio Parini, Lecco (Italy); Politecnico di Milano, Milan (Italy); Barba, Carmen [Children' s Hospital A. Meyer - University of Florence, Neuroscience Department, Florence (Italy); Guerrini, Renzo [IRCCS Stella Maris, Pisa (Italy); Children' s Hospital A. Meyer - University of Florence, Neuroscience Department, Florence (Italy)

    2014-07-15

    This contribution presents a magnetic resonance imaging (MRI) acquisition technique named Tissue Border Enhancement (TBE), whose purpose is to produce images with enhanced visualization of borders between two tissues of interest without any post-processing. The technique is based on an inversion recovery sequence that employs an appropriate inversion time to produce images where the interface between two tissues of interest is hypo-intense; therefore, tissue borders are clearly represented by dark lines. This effect is achieved by setting imaging parameters such that two neighboring tissues of interest have magnetization with equal magnitude but opposite sign; therefore, the voxels containing a mixture of each tissue (that is, the tissue interface) possess minimal net signal. The technique was implemented on a 7.0 T MRI system. This approach can assist the definition of tissue borders, such as that between cortical gray matter and white matter; therefore, it could facilitate segmentation procedures, which are often challenging on ultra-high-field systems due to inhomogeneous radiofrequency distribution. TBE allows delineating the contours of structural abnormalities, and its capabilities were demonstrated with patients with focal cortical dysplasia, gray matter heterotopia, and polymicrogyria. This technique provides a new type of image contrast and has several possible applications in basic neuroscience, neurogenetic research, and clinical practice, as it could improve the detection power of MRI in the characterization of cortical malformations, enhance the contour of small anatomical structures of interest, and facilitate cortical segmentation. (orig.)

  5. Family paracentric inversion of the short arm of chromosome X (Xp21.2p11.23 and connection with autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Pejović-Milovančević Milica

    2012-01-01

    Full Text Available Introduction. Autism spectrum disorders (ASDs are a group of complex pervasive developmental disorders characterized by impairments in communication, social interaction and behavior. In most cases autism is caused by a combination of genetic factors and environmental risk factors. In 10% to 20% of cases it has been shown that the cause of ASD is genetic. Case Outline. We are describing a 2-year-old boy who was referred to genetic counseling because of speech delay and certain autism-like behavior. By cytogenetic analysis the karyotype 46, inv(X,Y was obtained. The boy was a carrier of a paracentric inversion of the short arm of the chromosome X. After cytogenetic analysis of parental blood, it was detected that mother was a carrier of identical aberration, but had no clinical signs. The method of fluorescent in situ hybridization (FISH yielded the precise breakpoint in the region (p21.2p11.23. Mother and son were carriers of identical X chromosome. Conclusion. Breakpoints are located in the regions that have already been linked to autism, which indicates that the positional effect of the gene could have been a possible cause of the patient’s genotype. In addition to positional effects, in order to better understand the etiology of autism other genetic and environmental factors should be always taken into consideration. [Projekat Ministarstva nauke Republike Srbije, br. ON175013

  6. Contrast-enhanced FLAIR (fluid-attenuated inversion recovery for evaluating mild traumatic brain injury.

    Directory of Open Access Journals (Sweden)

    Soo Chin Kim

    Full Text Available PURPOSE: To evaluate whether adding a contrast-enhanced fluid-attenuated inversion recovery (FLAIR sequence to routine magnetic resonance imaging (MRI can detect additional abnormalities in the brains of symptomatic patients with mild traumatic brain injury. MATERIALS AND METHODS: Fifty-four patients with persistent symptoms following mild closed head injury were included in our retrospective study (M ∶ F =  32 ∶ 22, mean age: 59.8 ± 16.4, age range: 26-84 years. All MRI examinations were obtained within 14 days after head trauma (mean: 3.2 ± 4.1 days, range: 0.2-14 days. Two neuroradiologists recorded (1 the presence of traumatic brain lesions on MR images with and without contrast-enhanced FLAIR images and (2 the pattern and location of meningeal enhancement depicted on contrast-enhanced FLAIR images. The number of additional traumatic brain lesions diagnosed with contrast-enhanced FLAIR was recorded. Correlations between meningeal enhancement and clinical findings were also evaluated. RESULTS: Traumatic brain lesions were detected on routine image sequences in 25 patients. Three additional cases of brain abnormality were detected with the contrast-enhanced FLAIR images. Meningeal enhancement was identified on contrast-enhanced FLAIR images in 9 cases while the other routine image sequences showed no findings of traumatic brain injury. Overall, the additional contrast-enhanced FLAIR images revealed more extensive abnormalities than routine imaging in 37 cases (p<0.001. In multivariate logistic regression analysis, subdural hematoma and posttraumatic loss of consciousness showed a significant association with meningeal enhancement on contrast-enhanced FLAIR images, with odds ratios 13.068 (95% confidence interval 2.037 to 83.852, and 15.487 (95% confidence interval 2.545 to 94.228, respectively. CONCLUSION: Meningeal enhancement on contrast-enhanced FLAIR images can help detect traumatic brain lesions as well as additional abnormalities

  7. Switchable self-defocusing and focusing in nearly isotropic photonic crystals via enhanced inverse diffraction

    Science.gov (United States)

    Tang, Zhixiang; Zhao, Lei; Sui, Zhan; Zou, Yanhong; Wen, Shuangchun; Danner, Aaron; Qiu, Chengwei

    2015-06-01

    Generally, optical diffraction is only weakly dependent on the refractive index of a medium in which light propagates. In this paper, diffraction in a nearly isotropic Kerr photonic crystal (PhC) made of silicon pillars embedded in nonlinear carbon disulfide ambient was reversed and enhanced by its linear refractive index, which is negative and much less than unity. The effective nonlinear refractive index coefficient n2 of the PhC was found by fitting spectral broadening induced by self-phase modulation. The enhanced inverse diffraction, attributed to positive n2, allows self-defocusing in one single PhC. More interestingly, the same PhC can selectively exhibit dual functionalities, i.e., self-defocusing and self-focusing, based on the wavefront property of a given input beam. Our results may pave the way for protecting nanostructured photonic devices from laser damage and provide a method for controlling wavefronts.

  8. Optimal enhancement in conversion efficiency of crystalline Si solar cells using inverse opal photonic crystals as back reflectors

    International Nuclear Information System (INIS)

    The effect of using inverse opal photonic crystals as back reflectors on the power conversion efficiency of c-Si solar cells is investigated. The reflection spectra of inverse opal photonic crystals with different diameters of air spheres are simulated using the finite difference time domain (FDTD) method. The reflection peaks are correlated with photonic band gaps present in the photonic band gap diagram. Significant improvement in the optical absorption of the crystalline silicon layer is recorded when inverse opal photonic crystals are considered. Physical mechanisms which may contribute to the enhancement of the light absorption are underlined. With higher short-circuit current enhancement possible, and with no corresponding degradation in open-circuit voltage Voc or the fill factor, the power conversion efficiency is increased significantly when inverse opal photonic crystals are used as back reflectors with optimized diameter of air spheres. (paper)

  9. Novel tools for stepping source brachytherapy treatment planning: Enhanced geometrical optimization and interactive inverse planning

    Energy Technology Data Exchange (ETDEWEB)

    Dinkla, Anna M., E-mail: a.m.dinkla@amc.uva.nl; Laarse, Rob van der; Koedooder, Kees; Petra Kok, H.; Wieringen, Niek van; Pieters, Bradley R.; Bel, Arjan [Department of Radiation Oncology, Academic Medical Center Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ (Netherlands)

    2015-01-15

    Purpose: Dose optimization for stepping source brachytherapy can nowadays be performed using automated inverse algorithms. Although much quicker than graphical optimization, an experienced treatment planner is required for both methods. With automated inverse algorithms, the procedure to achieve the desired dose distribution is often based on trial-and-error. Methods: A new approach for stepping source prostate brachytherapy treatment planning was developed as a quick and user-friendly alternative. This approach consists of the combined use of two novel tools: Enhanced geometrical optimization (EGO) and interactive inverse planning (IIP). EGO is an extended version of the common geometrical optimization method and is applied to create a dose distribution as homogeneous as possible. With the second tool, IIP, this dose distribution is tailored to a specific patient anatomy by interactively changing the highest and lowest dose on the contours. Results: The combined use of EGO–IIP was evaluated on 24 prostate cancer patients, by having an inexperienced user create treatment plans, compliant to clinical dose objectives. This user was able to create dose plans of 24 patients in an average time of 4.4 min/patient. An experienced treatment planner without extensive training in EGO–IIP also created 24 plans. The resulting dose-volume histogram parameters were comparable to the clinical plans and showed high conformance to clinical standards. Conclusions: Even for an inexperienced user, treatment planning with EGO–IIP for stepping source prostate brachytherapy is feasible as an alternative to current optimization algorithms, offering speed, simplicity for the user, and local control of the dose levels.

  10. Novel tools for stepping source brachytherapy treatment planning: Enhanced geometrical optimization and interactive inverse planning

    International Nuclear Information System (INIS)

    Purpose: Dose optimization for stepping source brachytherapy can nowadays be performed using automated inverse algorithms. Although much quicker than graphical optimization, an experienced treatment planner is required for both methods. With automated inverse algorithms, the procedure to achieve the desired dose distribution is often based on trial-and-error. Methods: A new approach for stepping source prostate brachytherapy treatment planning was developed as a quick and user-friendly alternative. This approach consists of the combined use of two novel tools: Enhanced geometrical optimization (EGO) and interactive inverse planning (IIP). EGO is an extended version of the common geometrical optimization method and is applied to create a dose distribution as homogeneous as possible. With the second tool, IIP, this dose distribution is tailored to a specific patient anatomy by interactively changing the highest and lowest dose on the contours. Results: The combined use of EGO–IIP was evaluated on 24 prostate cancer patients, by having an inexperienced user create treatment plans, compliant to clinical dose objectives. This user was able to create dose plans of 24 patients in an average time of 4.4 min/patient. An experienced treatment planner without extensive training in EGO–IIP also created 24 plans. The resulting dose-volume histogram parameters were comparable to the clinical plans and showed high conformance to clinical standards. Conclusions: Even for an inexperienced user, treatment planning with EGO–IIP for stepping source prostate brachytherapy is feasible as an alternative to current optimization algorithms, offering speed, simplicity for the user, and local control of the dose levels

  11. Enhancement of Tb-Yb quantum cutting emission by inverse opal photonic crystals

    Science.gov (United States)

    Wang, Qi; Qiu, Jianbei; Song, Zhiguo; Yang, Zhengwen; Yin, Zhaoyi; Zhou, Dacheng; Wang, Siqin

    2016-04-01

    Yb3+, Tb3+ co-doped YPO4 inverse opal photonic crystal was prepared directly by sol-gel technique in combination with self-assembly method. With the influence of the photonic band gap, quantum cutting emission of Tb3+, Yb3+ was investigated in photonic crystals by photoluminescence and fluorescence lifetime. The result clearly shows that, when the spontaneous emission of donor Tb3+ is inhibited by photonic band gap, Tb3+-Yb3+ quantum cutting quantum efficiency from Tb3+ to Yb3+ could be enhanced from 131.2% to 140.5%. The mechanisms for the influence of the photonic band gap on quantum cutting process of Tb3+ and Yb3+ are discussed. We believe that the present work will be valuable for the foundational study of quantum cutting energy transfer process and application of quantum cutting optical devices in spectral modification materials for silicon solar cells.

  12. Diagnostic value of contrast-enhanced fluid-attenuated inversion recovery MR imaging of intracranial metastases

    International Nuclear Information System (INIS)

    Postcontrast fluid-attenuated inversion recovery (FLAIR) imaging effectively depicts parenchymal and leptomeningeal metastases. as reported. We compared postcontrast T1-weighted (T1W) and FLAIR imaging in a group of 50 patients, and to compare our results with published ones regarding the so-called effect of 'late enhancement' as well. Fifty patients with known malignancy and suspected cranial metastases underwent axial FLAIR and spin-echo T1W imaging without and with intravenous gadopentetate dimeglumine (GD). Postcontrast images were compared for lesion conspicuity and enhancement, number of parenchymal metastases, and extension of leptomeningeal-cisternal metastases. All postcontrast FLAIR sequences were obtained after the postcontrast T1W sequences. Parenchymal metastases were demonstrated in 30 patients. Regarding all established criteria postcontrast FLAIR imaging was superior in two patients, equal in five, and inferior in 23. FLAIR imaging was performed as the second postcontrast sequence. Five patients had leptomeningeal-cisternal metastases; lesion conspicuity, extension, and enhancement were superior on postcontrast FLAIR images in all five patients. FLAIR imaging was performed as the second postcontrast sequence. Nine patients had cranial-nerve metastases; in eight, postcontrast FLAIR imaging was superior for lesion conspicuity and extension. In all patients, FLAIR imaging was the second postcontrast sequence. Postcontrast FLAIR imaging is a valuable adjunct to post-contrast T1W imaging. Precontrast and postcontrast FLAIR imaging effectively delineates parenchymal metastases, particularly leptomeningeal-cisternal and cranial-nerve metastases

  13. Diagnostic accuracy of segmental enhancement inversion for diagnosis of renal oncocytoma at biphasic contrast enhanced CT: systematic review

    Energy Technology Data Exchange (ETDEWEB)

    Schieda, Nicola; McInnes, Matthew D.F.; Cao, Lilly [Ottawa Hospital Research Institute, Department of Medical Imaging, Ottawa, ON (Canada)

    2014-06-15

    To use systematic review to evaluate the diagnostic accuracy of segmental enhancement inversion (SEI) at contrast-enhanced biphasic multi-detector computed tomography (MDCT) for the diagnosis of renal oncocytoma. Several electronic databases were searched through October 2013. Two reviewers independently selected studies that met the inclusion criteria and extracted data. Study quality was assessed with the QUADAS-2 tool. The primary 2 x 2 data were investigated with forest plot and ROC plot of sensitivity and specificity. Four studies met the inclusion criteria (307 patients). Considerable heterogeneity between studies precluded meta-analysis. Two studies from the same group of investigators demonstrated reasonable diagnostic accuracy (sensitivity 59-80 % and specificity 87-99 %), while two others did not (sensitivity 0-6 %, specificity 93-100 %). Possible reasons for this include timing of biphasic MDCT and methods of interpretation but not size of lesion. SEI is a specific imaging finding of renal oncocytoma with highly variable sensitivity. This substantial heterogeneity across studies and between institutions suggests that further validation of this imaging finding is necessary prior to application in clinical practice. (orig.)

  14. Slow light enhanced near infrared luminescence in CeO2: Er3+, Yb3+ inverse opal photonic crystals

    International Nuclear Information System (INIS)

    Highlights: • CeO2: Er3+, Yb3+ photonic crystals was prepared. • Near infrared emission in the CeO2: Er3+, Yb3+ inverse opal was obtained. • Near infrared emission was enhanced by slow light effect of photonic crystals. - Abstract: The surface plasmon resonances of metal nanoparticles and energy transfer between rare earth ions were used widely to enhance the near infrared emission of rare earth ions. In this paper, a new method for near infrared emission enhancement of rare-earth is reported. The CeO2: Er3+, Yb3+ inverse opals with the photonic band gaps at the 500 and 450 nm were prepared by using polystyrene colloidal crystal as templates, and their near infrared emission properties were investigated. The results show that the near infrared emission property of the CeO2: Er3+, Yb3+ inverse opals depends on the overlapped extend between the excited light and photonic band gap. The near infrared emission located at the 1540 nm of the CeO2: Er3+, Yb3+ inverse opals have been enhanced obviously when the wavelength of the excitation light overlapped with photonic band gaps edge, which is attributed to the slow light effect of photonic crystals. The enhancement of near infrared emission may be important for the development of infrared laser and amplifiers for optical communication

  15. Usefulness of contrast- enhanced phae-inversion harmonic power Doppler imaging in the diagnosis of hepatic hemangiomas

    International Nuclear Information System (INIS)

    The purpose of this study was to assess the sensitivity of echo-enhanced phase-inversion power depicting the vascular enhancement of hemangiomas, thus confirming the exact diagnosis. Based on our results, we can recommend phase-inversion power Doppler sonography in the differential diagnosis of hemangioma by visualizing the characteristic rim-like enhancement pattern followed by a slow centripetal fill-in as an excellent diagnostic modality. Twenty patients were examined. The presence of hemangioma was confirmed by surgical resection (n=2), two-phase (hepatic arterial and portal phases) contrast-enhanced spiral computed tomography (n=8), or sonographic follow-up, which showed no change in lesion size for at least 6 months (n=10). Prior to enhanced sonography, all patients had undergone both native B-mode and tissue harmonic imaging mode sonography, color Doppler, and power Doppler helical CT examinations. After injection of 2.5 g of Levovist intravenously, analysis of the arrival of contrast agent was performed by phase-inversion power Doppler sonography. Evaluation of the 20 patients revealed 37 hemangiomas. Color and power Doppler sonography were non-specific for hemangioma in our examination. However, based on the phase-inversion power Doppler sonography findings, the 20 patients with the 37 hemangiomas were diagnosed. Typical features of hemangioma, such as peripheral globular and rim-like enhancement followed by a slow centripetal fill-in, were clearly visible. In 3 cases of small hemangiomas, computed tomography had failed to disclose the pathology, while phase-inversion sonographic images were completely suggestive of what was later confirmed at 6 months follow-up. (author)

  16. Estimating tectonic history through basin simulation-enhanced seismic inversion: Geoinformatics for sedimentary basins

    Science.gov (United States)

    Tandon, K.; Tuncay, K.; Hubbard, K.; Comer, J.; Ortoleva, P.

    2004-01-01

    A data assimilation approach is demonstrated whereby seismic inversion is both automated and enhanced using a comprehensive numerical sedimentary basin simulator to study the physics and chemistry of sedimentary basin processes in response to geothermal gradient in much greater detail than previously attempted. The approach not only reduces costs by integrating the basin analysis and seismic inversion activities to understand the sedimentary basin evolution with respect to geodynamic parameters-but the technique also has the potential for serving as a geoinfomatics platform for understanding various physical and chemical processes operating at different scales within a sedimentary basin. Tectonic history has a first-order effect on the physical and chemical processes that govern the evolution of sedimentary basins. We demonstrate how such tectonic parameters may be estimated by minimizing the difference between observed seismic reflection data and synthetic ones constructed from the output of a reaction, transport, mechanical (RTM) basin model. We demonstrate the method by reconstructing the geothermal gradient. As thermal history strongly affects the rate of RTM processes operating in a sedimentary basin, variations in geothermal gradient history alter the present-day fluid pressure, effective stress, porosity, fracture statistics and hydrocarbon distribution. All these properties, in turn, affect the mechanical wave velocity and sediment density profiles for a sedimentary basin. The present-day state of the sedimentary basin is imaged by reflection seismology data to a high degree of resolution, but it does not give any indication of the processes that contributed to the evolution of the basin or causes for heterogeneities within the basin that are being imaged. Using texture and fluid properties predicted by our Basin RTM simulator, we generate synthetic seismograms. Linear correlation using power spectra as an error measure and an efficient quadratic

  17. Role of MR contrast-enhanced fluid-attenuated inversion recovery imaging in the diagnosis of leptomeningeal lesions

    International Nuclear Information System (INIS)

    Objective: To evaluate contrast-enhanced fluid-attenuated inversion recovery (FLAIR) imaging in the detection of leptomeningeal lesions. Methods: Seventeen patients with a variety of leptomeningeal lesions were analyzed. The MRI protocol included un-enhanced and contrast-enhanced FLAIR images and contrast-enhanced T1WI. Comparisons between contrast-enhanced FLAIR images and T1WI and between un-enhanced and contrast-enhanced FLAIR images were made to determine which sequence better depicted the lesions. Results: Leptomeningeal lesions showed as either diffusely or locally abnormal hyper-intensity along sulci or cistern on three sequences. Comparison between contrast-enhanced FLAIR and T1WI showed that only contrast-enhanced FLAIR revealed the abnormalities in 7, both revealed the abnormalities but the former was superior in 2, and both were conspicuous in 7. In 1 patient of tuberculous meningitis, diffuse abnormalities of sulci were shown only on contrast-enhanced FLAIR, abnormalities of cisterns were shown on both sequences but the former was superior. Comparison between un- enhanced and contrast-enhanced FLAIR showed that only contrast-enhanced FLAIR revealed the abnormalities in 9, both revealed the abnormalities but the former was superior in 3, and both were conspicuous in 4. In 1 patient of tuberculous meningitis, abnormalities of cisterns were shown only on contrast-enhanced FLAIR, diffuseabnormalities of sulci were shown on both sequences but the former was superior. Conclusions: Contrast-enhanced FLAIR images were superior to un-enhanced FLAIR images and contrast-enhanced T1WI in the detection of leptomeningeal lesions. Contrast-enhanced FLAIR images are helpful and should be considered when findings on un-enhanced FLAIR images and/or contrast-enhanced T1WI are inconclusive. (authors)

  18. Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens

    Energy Technology Data Exchange (ETDEWEB)

    Camats, Nuria [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Garcia, Francisca [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Parrilla, Juan Jose [Servicio de Ginecologia y Obstetricia, Hospital Universitario Virgen de la Arrixaca, 30120 El Palmar, Murcia (Spain); Calaf, Joaquim [Servei de Ginecologia i Obstetricia, Hospital Universitari de la Santa Creu i Sant Pau, 08025 Barcelona (Spain); Martin, Miguel [Departament de Pediatria, d' Obstetricia i Ginecologia i de Medicina Preventiva, Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Caldes, Montserrat Garcia [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, 08193 Barcelona (Spain)], E-mail: Montserrat.Garcia.Caldes@uab.es

    2008-04-02

    Genomic instability can be produced by ionising radiation, so-called radiation-induced genomic instability, and chemical mutagens. Radiation-induced genomic instability occurs in both germinal and somatic cells and also in the offspring of irradiated individuals, and it is characterised by genetic changes including chromosomal rearrangements. The majority of studies of trans-generational, radiation-induced genomic instability have been described in the male germ line, whereas the authors who have chosen the female as a model are scarce. The aim of this work is to find out the radiation-induced effects in the foetal offspring of X-ray-treated female rats and, at the same time, the possible impact of this radiation-induced genomic instability on the action of a chemical mutagen. In order to achieve both goals, the quantity and quality of chromosomal damage were analysed. In order to detect trans-generational genomic instability, a total of 4806 metaphases from foetal tissues from the foetal offspring of X-irradiated female rats (5 Gy, acute dose) were analysed. The study's results showed that there is radiation-induced genomic instability: the number of aberrant metaphases and the breaks per total metaphases studied increased and were found to be statistically significant (p {<=} 0.05), with regard to the control group. In order to identify how this trans-generational, radiation-induced chromosomal instability could influence the chromosomal behaviour of the offspring of irradiated rat females in front of a chemical agent (aphidicolin), a total of 2481 metaphases were studied. The observed results showed that there is an enhancement of the action of the chemical agent: chromosomal breaks per aberrant metaphases show significant differences (p {<=} 0.05) in the X-ray- and aphidicolin-treated group as regards the aphidicolin-treated group. In conclusion, our findings indicate that there is trans-generational, radiation-induced chromosomal instability in the foetal

  19. Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens

    International Nuclear Information System (INIS)

    Genomic instability can be produced by ionising radiation, so-called radiation-induced genomic instability, and chemical mutagens. Radiation-induced genomic instability occurs in both germinal and somatic cells and also in the offspring of irradiated individuals, and it is characterised by genetic changes including chromosomal rearrangements. The majority of studies of trans-generational, radiation-induced genomic instability have been described in the male germ line, whereas the authors who have chosen the female as a model are scarce. The aim of this work is to find out the radiation-induced effects in the foetal offspring of X-ray-treated female rats and, at the same time, the possible impact of this radiation-induced genomic instability on the action of a chemical mutagen. In order to achieve both goals, the quantity and quality of chromosomal damage were analysed. In order to detect trans-generational genomic instability, a total of 4806 metaphases from foetal tissues from the foetal offspring of X-irradiated female rats (5 Gy, acute dose) were analysed. The study's results showed that there is radiation-induced genomic instability: the number of aberrant metaphases and the breaks per total metaphases studied increased and were found to be statistically significant (p ≤ 0.05), with regard to the control group. In order to identify how this trans-generational, radiation-induced chromosomal instability could influence the chromosomal behaviour of the offspring of irradiated rat females in front of a chemical agent (aphidicolin), a total of 2481 metaphases were studied. The observed results showed that there is an enhancement of the action of the chemical agent: chromosomal breaks per aberrant metaphases show significant differences (p ≤ 0.05) in the X-ray- and aphidicolin-treated group as regards the aphidicolin-treated group. In conclusion, our findings indicate that there is trans-generational, radiation-induced chromosomal instability in the foetal cells

  20. Development of an enhanced chromosomal expression system based on porin synthesis operon for halophile Halomonas sp.

    Science.gov (United States)

    Yin, Jin; Fu, Xiao-Zhi; Wu, Qiong; Chen, Jin-Chun; Chen, Guo-Qiang

    2014-11-01

    Since halophile Halomonas spp. can grow contamination free in seawater under unsterile and continuous conditions, it holds great promise for industrial biotechnology to produce low-cost chemicals in an economic way. Yet, metabolic engineering methods are urgently needed for Halomonas spp. It is commonly known that chromosomal expression is more stable yet weaker than plasmid one is. To overcome this challenge, a novel chromosomal expression method was developed for halophile Halomonas TD01 and its derivatives based on a strongly expressed porin gene as a site for external gene integration. The gene of interest was inserted downstream the porin gene, forming an artificial operon porin-inserted gene. This chromosome expression system was proven functional by some examples: First, chromosomal expression of heterologous polyhydroxybutyrate (PHB) synthase gene phaC Re from Ralstonia eutropha completely restored the PHB accumulation level in endogenous phaC knockout mutant of Halomonas TD01. The integrated phaC Re was expressed at the highest level when inserted at the locus of porin compared with insertions in other chromosome locations. Second, an inducible expression system was constructed in phaC-deleted Halomonas TD01 by integrating the lac repressor gene (lacI) into the porin site in the host chromosome. The native porin promoter was inserted with the key 21 bp DNA of lac operator (lacO) sequence to become an inducible promoter encoded in a plasmid. This inducible system allowed on-off switch of gene expression in Halomonas TD strains. Thus, the stable and strong chromosomal expression method in Halomonas TD spp. was established. PMID:25070598

  1. Modulating light propagation in ZnO-Cu₂O-inverse opal solar cells for enhanced photocurrents.

    Science.gov (United States)

    Yantara, Natalia; Pham, Thi Thu Trang; Boix, Pablo P; Mathews, Nripan

    2015-09-01

    The advantages of employing an interconnected periodic ZnO morphology, i.e. an inverse opal structure, in electrodeposited ZnO/Cu2O devices are presented. The solar cells are fabricated using low cost solution based methods such as spin coating and electrodeposition. The impact of inverse opal geometry, mainly the diameter and thickness, is scrutinized. By employing 3 layers of an inverse opal structure with a 300 nm pore diameter, higher short circuit photocurrents (∼84% improvement) are observed; however the open circuit voltages decrease with increasing interfacial area. Optical simulation using a finite difference time domain method shows that the inverse opal structure modulates light propagation within the devices such that more photons are absorbed close to the ZnO/Cu2O junction. This increases the collection probability resulting in improved short circuit currents. PMID:26235838

  2. Randomly distributed unit sources to enhance optimization in tsunami waveform inversion

    Directory of Open Access Journals (Sweden)

    I. E. Mulia

    2014-05-01

    Full Text Available Determination of sea surface deformation generated by earthquakes is crucial to the success of tsunami modeling. Using waveforms recorded at measurement stations and assuming that the rupture velocity is much faster than the tsunami wave celerity, sea surface deformation caused by a tsunamigenic earthquake can be inferred through an inversion operation using the Green's function technique. However, this inversion method for tsunami waveforms possesses a limitation, in that the inverse matrix does not always exist because of the non-uniqueness of the solution. In addition to the large number of unknown parameters, which might produce many local optima on the misfit function measure, the search towards optimality is confined by the uniform distance of unit sources used in the regular Green's function. This study proposes a new method to both optimize the determination of the unknown parameters and introduce a global optimization method for tsunami waveform inversion. The method has been tested using an artificial tsunami source with real bathymetry data. A significant improvement is achieved by stochastically searching for an optimal distribution of unit source locations prior to the inversion.

  3. Chromosome engineering to enhance utility of alien-derived stem rust resistance

    Science.gov (United States)

    In the past 50 years, a number of stem rust (Sr) resistance genes identified from wild relatives of wheat have been incorporated into wheat genomes through chromosome engineering. Some of these genes, including Sr25, Sr26, Sr32, Sr37, Sr39, Sr40, Sr43, Sr44, SrR, and three unnamed novel Sr genes fr...

  4. Quantitative Monitoring for Enhanced Geothermal Systems Using Double-Difference Waveform Inversion with Spatially-Variant Total-Variation Regularization

    Energy Technology Data Exchange (ETDEWEB)

    Lin, Youzuo [Los Alamos National Laboratory; Huang, Lianjie [Los Alamos National Laboratory; Zhang, Zhigang [Los Alamos National Laboratory

    2011-01-01

    Double-difference waveform inversion is a promising tool for quantitative monitoring for enhanced geothermal systems (EGS). The method uses time-lapse seismic data to jointly inverts for reservoir changes. Due to the ill-posedness of waveform inversion, it is a great challenge to obtain reservoir changes accurately and efficiently, particularly when using timelapse seismic reflection data. To improve reconstruction, we develop a spatially-variant total-variation regularization scheme into double-difference waveform inversion to improve the inversion accuracy and robustness. The new regularization scheme employs different regularization parameters in different regions of the model to obtain an optimal regularization in each area. We compare the results obtained using a spatially-variant parameter with those obtained using a constant regularization parameter. Utilizing a spatially-variant regularization scheme, the target monitoring regions are well reconstructed and the image noise is significantly reduced outside the monitoring regions. Our numerical examples demonstrate that the spatially-variant total-variation regularization scheme provides the flexibility to regularize local regions based on the a priori spatial information without increasing computational costs and the computer memory requirement.

  5. Sparse contrast-source inversion using linear-shrinkage-enhanced inexact Newton method

    KAUST Repository

    Desmal, Abdulla

    2014-07-01

    A contrast-source inversion scheme is proposed for microwave imaging of domains with sparse content. The scheme uses inexact Newton and linear shrinkage methods to account for the nonlinearity and ill-posedness of the electromagnetic inverse scattering problem, respectively. Thresholded shrinkage iterations are accelerated using a preconditioning technique. Additionally, during Newton iterations, the weight of the penalty term is reduced consistently with the quadratic convergence of the Newton method to increase accuracy and efficiency. Numerical results demonstrate the applicability of the proposed method.

  6. Enhancement of aluminum tolerance in wheat by addition of chromosomes from the wild relative Leymus racemosus

    OpenAIRE

    Mohammed, Yasir Serag Alnor; Eltayeb, Amin Elsadig; Tsujimoto, Hisashi

    2013-01-01

    Aluminum (Al) toxicity is the key factor limiting wheat production in acid soils. Soil liming has been used widely to increase the soil pH, but due to its high cost, breeding tolerant cultivars is more cost-effective mean to mitigate the problem. Tolerant cultivars could be developed by traditional breeding, genetic transformation or introgression of genes from wild relatives. We used 30 wheat alien chromosome addition lines to identify new genetic resources to improve wheat tolerance to Al a...

  7. Notch Activation Is Associated with Tetraploidy and Enhanced Chromosomal Instability in Meningiomas

    Directory of Open Access Journals (Sweden)

    Gilson S. Baia

    2008-06-01

    Full Text Available The Notch signaling cascade is deregulated in diverse cancer types. Specific Notch function in cancer is dependent on the cellular context, the particular homologs expressed, and cross-talk with other signaling pathways. We have previously shown that components of the Notch signaling pathway are deregulated in meningiomas. How-ever, the functional consequence of abnormal Notch signaling to meningiomas is unknown. Here, we report that exogenous expression of the Notch pathway effector, HES1, is associated with tetraploid cells in meningioma cell lines. Activated Notch1 and Notch2 receptors induced endogenous HES1 expression and were associated with tetraploidy in meningiomas. Tetraploid meningioma cells exhibited nuclear features of chromosomal instability and increased frequency of nuclear atypia, such as multipolar mitotic spindles and accumulation of cells with large nuclei. FACS-sorted tetraploid cells are viable but have higher rates of spontaneous apoptosis when compared with diploid cells. We have used spectral karyotyping to show that, in contrast to diploid cells, tetraploid cells develop a higher number of both numerical and structural chromosomal abnormalities. Our findings identify a novel function for the Notch signaling pathway in generating tetraploidy and contributing to chromosomal instability. We speculate that abnormal Notch signaling pathway is an initiating genetic mechanism for meningioma and potentially promotes tumor development.

  8. Enhanced proton acceleration by intense laser interaction with an inverse cone target

    Science.gov (United States)

    Bake, Muhammad Ali; Aimidula, Aimierding; Xiaerding, Fuerkaiti; Rashidin, Reyima

    2016-08-01

    The generation and control of high-quality proton bunches using focused intense laser pulse on an inverse cone target is investigated with a set of particle-in-cell simulations. The inverse cone is a high atomic number conical frustum with a thin solid top and open base, where the laser impinges onto the top surface directly, not down the open end of the cone. Results are compared with a simple planar target, where the proton angular distribution is very broad because of transverse divergence of the electromagnetic fields behind the target. For a conical target, hot electrons along the cone wall surface induce a transverse focusing sheath field. This field can effectively suppress the spatial spreading of the protons, resulting in a high-quality small-emittance, low-divergence proton beam. A slightly lower proton beam peak energy than that of a conventional planar target was also found.

  9. Pattern of Chromosomal Aberrations in Patients from North East Iran

    Directory of Open Access Journals (Sweden)

    Saeedeh Ghazaey

    2013-01-01

    Full Text Available Objective: Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques.Materials and Methods: In this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 in Pardis Clinical and Genetics Laboratory on patients referred to from Mashhad and other cities in Khorasan province. Karyotyping was performed on 3728 patients suspected of having chromosomal abnormalities.Results: The frequencies of the different types of chromosomal abnormalities were determined, and the relative frequencies were calculated in each group. Among these patients, 83.3% had normal karyotypes with no aberrations. The overall incidences of chromosomal abnormalities were 16.7% including sex and autosomal chromosomal anomalies. Of those, 75.1 % showed autosomal chromosomal aberrations. Down syndrome (DS was the most prevalent autosomal aberration in the patients (77.1%. Pericentric inversion of chromosome 9 was seen in 5% of patients. This inversion was prevalent in patients with recurrent spontaneous abortion (RSA. Sex chromosomal aberrations were observed in 24.9% of abnormal patients of which 61% had Turner’s syndrome and 33.5% had Klinefelter’s syndrome.Conclusion: According to the current study, the pattern of chromosomal aberrations in North East of Iran demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. These findings provide a reason for preparing a local cytogenetic data bank to enhance genetic counseling of families who require this service.

  10. Population inversion of molecular nitrogen in an Ar: N2 mixture by selective resonance-enhanced multiphoton ionization

    Science.gov (United States)

    Shneider, M. N.; Baltuška, A.; Zheltikov, A. M.

    2011-10-01

    Resonance-enhanced multiphoton ionization (REMPI) is shown to offer an attractive strategy for population inversion of molecular nitrogen in an Ar: N2 gas mixture. We present a detailed analysis of the key processes leading to a population inversion of molecular nitrogen in a REMPI-pumped Ar: N2 gas mixture, including a (3 + 1) REMPI of argon atoms, conversion of the REMPI-generated atomic argon ions into molecular ions, and generation of long-lived metastable excited-state argon atoms through dissociative recombination, populating the C3πu states of molecular nitrogen. Population inversion achieved for the second-positive-band laser transitions of molecular nitrogen enables stimulated emission of ultraviolet radiation at 337 nm. A high selectivity of the REMPI process helps to radically reduce the depletion of the working medium through the ionization of N2, providing a pump mechanism that is ideally suited for the creation of a new type of a highly efficient nitrogen laser.

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

    Directory of Open Access Journals (Sweden)

    Yerle Martine

    2003-11-01

    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.

  12. Enhanced chromosomal radiosensitivity in peripheral blood lymphocytes of larynx cancer patients

    International Nuclear Information System (INIS)

    Purpose: The chromosomal radiosensitivity in peripheral blood lymphocytes of cancer patients was reported to be higher than that of healthy donors. This effect is especially prominent when aberrations induced in the G2 phase of the cell cycle are analyzed. The aim of our study was to investigate if the G2 aberration frequencies in lymphocytes of patients with larynx cancer are higher than in the case of control individuals. Also, we tested if the frequencies of G2 aberrations correlate with side effects of radiotherapy. Methods and Materials: Peripheral blood of 38 patients was collected before the onset of radiotherapy, cultured for 72 h, and irradiated with 2 Gy after 67 h. Lymphocytes of 40 healthy donors were treated in the same way. Results: The spontaneous and radiation-induced aberration frequencies in lymphocytes of patients were on average higher than in those of healthy donors. No statistically significant correlation was observed between aberration frequencies in lymphocytes and the degree of both early and late normal tissue reactions. Conclusions: The chromosomal radiosensitivity of lymphocytes of patients with larynx cancer may be a marker of cancer predisposition; however, it does not appear to have a predictive value for the risk of developing side effects to radiotherapy

  13. 胎儿9号染色体臂间倒位与产前诊断指征的关系%The relationship between pericentric inversion of chromosome 9 of fetus and the indications of prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    覃婷; 田矛; 莫伟英; 施月秋; 许莉莉

    2011-01-01

    目的 探讨孕妇高龄与唐氏综合征血清学筛查高危与胎儿9号染色体臂间倒位(inv (9))的关系.方法 回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的inv(9)胎儿的产前诊断指征.结果 唐氏筛查高危的孕妇胎儿inv(9)检出率为0.91%,高于普通人群inv(9)染色体异常检出率,高龄孕妇胎儿inv(9)染色体异常检出率0.71%,低于普通人群inv(9)染色体异常检出率,但2组孕妇的胎儿inv(9)染色体异常检出率与普通人群inv(9)染色体异常检出率差异无显著性.结论 唐氏综合征筛查高危,孕妇高龄均不是胎儿染色体inv(9)的高危因素.%Objective: To study the relationship between the women with advanced maternal age and the pericentric inversion of chromosome 9 ( inv (9)), and the relationship between the pregnant women at high risk for Down syndrome through serologic screening and the pericentric inversion of chromosome 9 ( inv (9) ). Methods: To analyze the indications of the prenatal diagnosis of the ( inv (9)) fetuses who have an amniocentesis or cordocentesis in our hospital due to various reasons from October 2004 - August 2009. Results: The detection rate of fetal inv (9) of pregnant women who were at high risk for Down syndrome was 0. 91%, which is higher than the detection rate of inv (9) chromosome abnormality of the common people. The detection rate of inv (9) chromosome abnormality of fetuses of elderly pregnant women was 0. 71%, which is lower than the detection rate of inv (9) chromosome abnormality of the common people. However, there is no significant difference between the detection rate of inv (9) chromosome abnormality of fetuses of pregnant women of Group 2 and the detection rate of inv (9) chromosome abnormality of the common people. Conclusions: The high risk for Down syndrome through screening and the advanced maternal age are not the high risk factors of the fetal chromosome 9

  14. On an inverse source problem for enhanced oil recovery by wave motion maximization in reservoirs

    KAUST Repository

    Karve, Pranav M.

    2014-12-28

    © 2014, Springer International Publishing Switzerland. We discuss an optimization methodology for focusing wave energy to subterranean formations using strong motion actuators placed on the ground surface. The motivation stems from the desire to increase the mobility of otherwise entrapped oil. The goal is to arrive at the spatial and temporal description of surface sources that are capable of maximizing mobility in the target reservoir. The focusing problem is posed as an inverse source problem. The underlying wave propagation problems are abstracted in two spatial dimensions, and the semi-infinite extent of the physical domain is negotiated by a buffer of perfectly-matched-layers (PMLs) placed at the domain’s truncation boundary. We discuss two possible numerical implementations: Their utility for deciding the tempo-spatial characteristics of optimal wave sources is shown via numerical experiments. Overall, the simulations demonstrate the inverse source method’s ability to simultaneously optimize load locations and time signals leading to the maximization of energy delivery to a target formation.

  15. Shrinkage-thresholding enhanced born iterative method for solving 2D inverse electromagnetic scattering problem

    KAUST Repository

    Desmal, Abdulla

    2014-07-01

    A numerical framework that incorporates recently developed iterative shrinkage thresholding (IST) algorithms within the Born iterative method (BIM) is proposed for solving the two-dimensional inverse electromagnetic scattering problem. IST algorithms minimize a cost function weighted between measurement-data misfit and a zeroth/first-norm penalty term and therefore promote "sharpness" in the solution. Consequently, when applied to domains with sharp variations, discontinuities, or sparse content, the proposed framework is more efficient and accurate than the "classical" BIM that minimizes a cost function with a second-norm penalty term. Indeed, numerical results demonstrate the superiority of the IST-BIM over the classical BIM when they are applied to sparse domains: Permittivity and conductivity profiles recovered using the IST-BIM are sharper and more accurate and converge faster. © 1963-2012 IEEE.

  16. Evolution of sex chromosomes ZW of Schistosoma mansoni inferred from chromosome paint and BAC mapping analyses.

    Science.gov (United States)

    Hirai, Hirohisa; Hirai, Yuriko; LoVerde, Philip T

    2012-12-01

    Chromosomes of schistosome parasites among digenetic flukes have a unique evolution because they exhibit the sex chromosomes ZW, which are not found in the other groups of flukes that are hermaphrodites. We conducted molecular cytogenetic analyses for investigating the sex chromosome evolution using chromosome paint analysis and BAC clones mapping. To carry this out, we developed a technique for making paint probes of genomic DNA from a single scraped chromosome segment using a chromosome microdissection system, and a FISH mapping technique for BAC clones. Paint probes clearly identified each of the 8 pairs of chromosomes by a different fluorochrome color. Combination analysis of chromosome paint analysis with Z/W probes and chromosome mapping with 93 BAC clones revealed that the W chromosome of Schistosoma mansoni has evolved by at least four inversion events and heterochromatinization. Nine of 93 BAC clones hybridized with both the Z and W chromosomes, but the locations were different between Z and W chromosomes. The homologous regions were estimated to have moved from the original Z chromosome to the differentiated W chromosome by three inversions events that occurred before W heterohcromatinization. An inversion that was observed in the heterochromatic region of the W chromosome likely occurred after W heterochromatinization. These inversions and heterochromatinization are hypothesized to be the key factors that promoted the evolution of the W chromosome of S. mansoni. PMID:22831897

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

    OpenAIRE

    Yerle Martine; Ducos Alain; Pinton Alain

    2003-01-01

    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...

  18. Echo-enhanced ultrasound with pulse inversion imaging: A new imaging modality for the differentiation of cystic pancreatic tumours

    Institute of Scientific and Technical Information of China (English)

    Steffen Rickes; Klaus M(o)nkemüller; Peter Malfertheiner

    2006-01-01

    AIM: To describe and discuss echo-enhanced sonography in the differential diagnosis of cystic pancreatic lesions.METHODS: The pulse inversion technique (with intravenous injection of 2.4 mL SonoVue(R)) or the power-Doppler mode under the conditions of the 2nd harmonic imaging (with intravenous injection of 4 g Levovist(R)) was used for echo-enhanced sonography.RESULTS: Cystadenomas frequently showed many vessels along fibrotic strands. On the other hand,cystadenocarcinomas were poorly and chaotically vascularized. "Young pseudocysts" were frequently found to have a highly vascularised wall. However, the wall of the "old pseudocysts" was poorly vascularized. Data from prospective studies demonstrated that based on these imaging criteria the sensitivities and specificities of echoenhanced sonography in the differentiation of cystic pancreatic masses were > 90%.CONCLUSION: Cystic pancreatic masses have a different vascularization pattern at echo-enhanced sonography. These characteristics are useful for their differential diagnosis, but histology is still the gold standard.

  19. Clinical significant evaluation of the inversion abnormality of chromosome on the fertile dysfunction%生育障碍患者中染色体倒位核型的特点及临床分析

    Institute of Scientific and Technical Information of China (English)

    陈亮; 鞠慧岩; 薛晴; 左文莉; 徐阳; 付杰; 贺占举; 于丽; 齐雯; 潘虹; 陈菲; 张娜; 王玲

    2014-01-01

    Objectives:To analyze the clinical significance of the inversion abnormality of chromosome on the adverse pregnancy events.Methods:Cytogenetics of patients was examined by culturing peripheral-blood lym-phocyte and G-banding technology,and karyotyping analysis technique was used to study the relationship between the chromosomal inversion abnormality and the fertile dysfunction in 1408 couples with adverse pregnancy outcome. Results:Among 2816 cases with adverse pregnancy events,31cases (16 male and 15 female)were found with chromosomal inversion abnormality,and the abnormal rate was 1.10%.There was no significant difference in the abnormal rate of chromosomal inversion between the different genders (male:1.13%,female:1.06%,P>0.05). 25 cases with inv (9)were detected and the detectable rate was 0.89%(25/2816).The other types of inversion abnormality included:one case with inv (6)(q11q21),one case inv (7)(p15q36),one case with inv (18) (p11q21),one case with inv (1)(q34q22),one case with inv(X)(p22q26)and one case with inv (10) (q12q22).The clinical symptoms of inversion abnormality were miscarriage,embryonic diapause,fetal anomalies and et al.Conclusion:During the inversion abnormality related to the fertile dysfunction couples,inv (9 )is the most common type.Inv (9)maybe have some potential effect on the adverse pregnancy events.There is no signifi-cant difference of the detectable rate of inversion abnormality between the different genders.Therefore,the couples with adverse pregnancy outcome should both receive cytogenetically examination at the same time.Possibly,the PGD and ICSI may be helpful to the patients with the inversion abnormality,but the detailed issues need to be fur-ther investigated.%目的:分析及总结生育障碍患者中染色体倒位核型的特点及临床意义。方法:临床分析不良妊娠结局夫妇双方的外周血染色体核型,对男方及女方不同性别间染色体异常的检出率进行比较并进

  20. Enhanced imaging of CO2 at the Ketzin storage site: Inversion of 3D time-lapse seismic data

    Science.gov (United States)

    Gil, M.; Götz, J.; Ivanova, A.; Juhlin, C.; Krawczyk, C. M.; Lüth, S.; Yang, C.

    2012-04-01

    The Ketzin test site, located near Berlin, is Europe's longest-operating on-shore CO2 storage site. As of December 2011, more than 56,000 tons of food grade CO2 has been injected since June 2008 in an anticlinal structure of the Northeast German Basin. The target reservoir consists of porous, brine bearing sandstone units of the Upper Triassic Stuttgart Formation at approximately 630 to 650 m depth. In order to enhance the understanding of the structural geometry of the site and to investigate the extension of the CO2-plume, several geophysical monitoring methods are being applied at Ketzin, among these are active seismic measurements, geoelectrics and borehole measurements. Among the various seismic techniques (e.g. 2D reflection surveys, crosshole tomography, Vertical Seismic Profiling, 2D- and 3D-Moving Source Profiling) employed at this pilot site, 3D time-lapse reflection surveys are an important component. The baseline 3D survey was acquired in 2005 and the first repeat measurements were performed in 2009 after injection of about 22,000 tons of CO2. The second repeat survey is planned to be carried out in fall 2012. These measurements allow the time-lapse signature of the injected CO2 to be imaged. The time-lapse amplitude variation attributed to the injected CO2 in the reservoir matches, considering detection limits of seismic surface measurements, the expected distribution of the CO2 plume derived from reservoir simulations. Previous attempts towards a quantitative interpretation were based on integrative considerations of different types of geophysical measurements using strict assumptions and characterized by large error bars. In order to increase the resolution and reliability of the data and to improve estimation of rock properties and especially to enhance the imaging resolution of the CO2-plume, the time-lapse 3D seismic data have now been inverted for seismic impedances with different methods, which is the focus of this presentation. One difficulty

  1. Constructing inverse V-type TiO2-based photocatalyst via bio-template approach to enhance the photosynthetic water oxidation

    Science.gov (United States)

    Jiang, Jinghui; Zhou, Han; Ding, Jian; Zhang, Fan; Fan, Tongxiang; Zhang, Di

    2015-08-01

    Bio-template approach was employed to construct inverse V-type TiO2-based photocatalyst with well distributed AgBr in TiO2 matrix by making dead Troides Helena wings with inverse V-type scales as the template. A cross-linked titanium precursor with homogenous hydrolytic rate, good liquidity, and low viscosity was employed to facilitate a perfect duplication of the template and the dispersion of AgBr based on appropriate pretreatment of the template by alkali and acid. The as-synthesized inverse V-type TiO2/AgBr can be turned into inverse V-type TiO2/Ag0 from AgBr photolysis during photocatalysis to achieve in situ deposition of Ag0 in TiO2 matrix, by this approach, to avoid the deformation of surface microstructure inherited from the template. The result showed that the cooperation of perfect inverse V-type structure and the well distributed TiO2/Ag0 microstructures can efficiently boost the photosynthetic water oxidation compared to non-inverse V-type TiO2/Ag0 and TiO2/Ag0 without using template. The anti-reflection function of inverse V-type structure and the plasmatic effect of Ag0 might be able to account for the enhanced photon capture and efficient photoelectric conversion.

  2. Constructing inverse V-type TiO2-based photocatalyst via bio-template approach to enhance the photosynthetic water oxidation

    International Nuclear Information System (INIS)

    Graphical abstract: Inverse V-type TiO2-based photocatalyst was synthesized by using cross-linked titanium precursor to duplicate bio-template. - Highlights: • Cross-linked titanium precursor can facilitate an accurate duplication of templates. • In situ deposition of Ag0 from AgBr can maintain the completeness of surface structure. • Perfect inverse V-type Ag0/TiO2 can achieve efficient water oxidation. - Abstract: Bio-template approach was employed to construct inverse V-type TiO2-based photocatalyst with well distributed AgBr in TiO2 matrix by making dead Troides Helena wings with inverse V-type scales as the template. A cross-linked titanium precursor with homogenous hydrolytic rate, good liquidity, and low viscosity was employed to facilitate a perfect duplication of the template and the dispersion of AgBr based on appropriate pretreatment of the template by alkali and acid. The as-synthesized inverse V-type TiO2/AgBr can be turned into inverse V-type TiO2/Ag0 from AgBr photolysis during photocatalysis to achieve in situ deposition of Ag0 in TiO2 matrix, by this approach, to avoid the deformation of surface microstructure inherited from the template. The result showed that the cooperation of perfect inverse V-type structure and the well distributed TiO2/Ag0 microstructures can efficiently boost the photosynthetic water oxidation compared to non-inverse V-type TiO2/Ag0 and TiO2/Ag0 without using template. The anti-reflection function of inverse V-type structure and the plasmatic effect of Ag0 might be able to account for the enhanced photon capture and efficient photoelectric conversion

  3. Enhancement of chromosome aberrations induced in 5'-bromodeoxyuridine-labelled Chinese hamster ovary cells by monochromatic synchrotron radiations

    International Nuclear Information System (INIS)

    The chromosome study for the radiation-induced enhancement in producing various types of aberrations was conducted in a cultured cell line of CHO (Chinese hamster ovary) cells that were pre-labeled with BUdR (5'-deoxybromouridine) and irradiated by monochromatic X-rays with a slightly shorter wavelength (0.9 A) than the K adsorption edge of bromine (0.92 A). The dose-response changes in terms of frequencies of single-arm breaks and isochromatid breaks have shown that a maximum effect was produced by the combination of 0.9-A wavelength of X-irradiation and Br-incorporation and was above the magnitude of the so-called brome-induced sensitization obtained with 1.0-A wavelength X-rays. Such additional effect in the bromine-sensitized cells may be interpreted as the biological effect due to Auger electrons produced by photoelectric stimulation with 0.9-A monochromatic X-rays

  4. Novel functional MAR elements of double minute chromosomes in human ovarian cells capable of enhancing gene expression.

    Directory of Open Access Journals (Sweden)

    Yan Jin

    Full Text Available Double minute chromosomes or double minutes (DMs are cytogenetic hallmarks of extrachromosomal genomic amplification and play a critical role in tumorigenesis. Amplified copies of oncogenes in DMs have been associated with increased growth and survival of cancer cells but DNA sequences in DMs which are mostly non-coding remain to be characterized. Following sequencing and bioinformatics analyses, we have found 5 novel matrix attachment regions (MARs in a 682 kb DM in the human ovarian cancer cell line, UACC-1598. By electrophoretic mobility shift assay (EMSA, we determined that all 5 MARs interact with the nuclear matrix in vitro. Furthermore, qPCR analysis revealed that these MARs associate with the nuclear matrix in vivo, indicating that they are functional. Transfection of MARs constructs into human embryonic kidney 293T cells showed significant enhancement of gene expression as measured by luciferase assay, suggesting that the identified MARS, particularly MARs 1 to 4, regulate their target genes in vivo and are potentially involved in DM-mediated oncogene activation.

  5. Real-time fast inverse dose optimization for image guided adaptive radiation therapy-Enhancements to fast inverse dose optimization (FIDO)

    International Nuclear Information System (INIS)

    A fast, accurate and stable optimization algorithm is very important for inverse planning of intensity-modulated radiation therapy (IMRT), and for implementing dose-adaptive radiotherapy in the future. Conventional numerical search algorithms with positive beam weight constraints generally require numerous iterations and may produce suboptimal dose results due to trapping in local minima regions of the objective function landscape. A direct solution of the inverse problem using conventional quadratic objective functions without positive beam constraints is more efficient but it will result in unrealistic negative beam weights. We review here a direct solution of the inverse problem that is efficient and does not yield unphysical negative beam weights. In fast inverse dose optimization (FIDO) method the objective function for the optimization of a large number of beamlets is reformulated such that the optimization problem is reducible to a linear set of equations. The optimal set of intensities is then found through a matrix inversion, and negative beamlet intensities are avoided without the need for externally imposed ad hoc conditions. In its original version [S. P. Goldman, J. Z. Chen, and J. J. Battista, in Proceedings of the XIVth International Conference on the Use of Computers in Radiation Therapy, 2004, pp. 112-115; S. P. Goldman, J. Z. Chen, and J. J. Battista, Med. Phys. 32, 3007 (2005)], FIDO was tested on single two-dimensional computed tomography (CT) slices with sharp KERMA beams without scatter, in order to establish a proof of concept which demonstrated that FIDO could be a viable method for the optimization of cancer treatment plans. In this paper we introduce the latest advancements in FIDO that now include not only its application to three-dimensional volumes irradiated by beams with full scatter but include as well a complete implementation of clinical dose-volume constraints including maximum and minimum dose as well as equivalent uniform dose

  6. Rapid assessment of myocardial infarct size in rodents using multi-slice inversion recovery late gadolinium enhancement CMR at 9.4T

    Directory of Open Access Journals (Sweden)

    Hausenloy Derek J

    2011-09-01

    Full Text Available Abstract Background Myocardial infarction (MI can be readily assessed using late gadolinium enhancement (LGE cardiovascular magnetic resonance (CMR. Inversion recovery (IR sequences provide the highest contrast between enhanced infarct areas and healthy myocardium. Applying such methods to small animals is challenging due to rapid respiratory and cardiac rates relative to T1 relaxation. Methods Here we present a fast and robust protocol for assessing LGE in small animals using a multi-slice IR gradient echo sequence for efficient assessment of LGE. An additional Look-Locker sequence was used to assess the optimum inversion point on an individual basis and to determine most appropriate gating points for both rat and mouse. The technique was applied to two preclinical scenarios: i an acute (2 hour reperfused model of MI in rats and ii mice 2 days following non-reperfused MI. Results LGE images from all animals revealed clear areas of enhancement allowing for easy volume segmentation. Typical inversion times required to null healthy myocardium in rats were between 300-450 ms equivalent to 2-3 R-waves and ~330 ms in mice, typically 3 R-waves following inversion. Data from rats was also validated against triphenyltetrazolium chloride staining and revealed close agreement for infarct size. Conclusion The LGE protocol presented provides a reliable method for acquiring images of high contrast and quality without excessive scan times, enabling higher throughput in experimental studies requiring reliable assessment of MI.

  7. Diagnostic accuracy of segmental enhancement inversion for the diagnosis of renal oncocytoma using biphasic computed tomography (CT) and multiphase contrast-enhanced magnetic resonance imaging (MRI)

    Energy Technology Data Exchange (ETDEWEB)

    Schieda, Nicola; McInnes, Matthew D.F. [The University of Ottawa, The Ottawa Hospital, Department of Medical Imaging, Ottawa, Ontario (Canada); Al-Subhi, Maali; Flood, Trevor A.; El-Khodary, Mohammed [The University of Ottawa, The Ottawa Hospital, Department of Anatomical Pathology, Ottawa, ON (Canada)

    2014-11-15

    Segmental enhancement inversion (SEI) is a controversial imaging finding reportedly specific for the diagnosis of renal oncocytoma. The purpose of this study was to re-evaluate SEI using biphasic CT and multiphase MRI. With research ethics board approval, a retrospective analysis of patients with resection or biopsy of oncocytoma or chromophobe renal cell carcinoma (Ch-RCC) between 2008-2012 was performed. Twenty-four patients with oncocytoma and 13 patients with Ch-RCC underwent CT, while 13 patients with oncocytoma and 10 patients with Ch-RCC underwent MRI. Two blinded radiologists reviewed the CT and MRI studies independently in separate sessions to assess for SEI. A third radiologist established consensus. Interobserver variability was calculated and diagnostic accuracy was compared using ROC and the Fisher exact test. There was no difference in detection of SEI between oncocytoma and Ch-RCC at CT [both readers (p = 0.65, 0.5) and consensus review (p = 0.29)] or MRI [both readers (p = 0.64, 0.74) and consensus review (p = 0.53)]. The interobserver variability at CT (K = 0.28-0.33) and MRI (K = 0.25-0.44) was fair. The sensitivity and specificity for diagnosis of oncocytoma were 21 % and 92 % at CT and 15 % and 90 % at MRI. SEI is not useful for the diagnosis of renal oncocytoma with CT or MRI. (orig.)

  8. Slow light enhanced near infrared luminescence in CeO{sub 2}: Er{sup 3+}, Yb{sup 3+} inverse opal photonic crystals

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Zhengwen, E-mail: yangzw@kmust.edu.cn; Wu, Hangjun; Li, Jun; Shao, Bo; Qiu, Jianbei; Song, Zhiguo

    2015-08-25

    Highlights: • CeO{sub 2}: Er{sup 3+}, Yb{sup 3+} photonic crystals was prepared. • Near infrared emission in the CeO{sub 2}: Er{sup 3+}, Yb{sup 3+} inverse opal was obtained. • Near infrared emission was enhanced by slow light effect of photonic crystals. - Abstract: The surface plasmon resonances of metal nanoparticles and energy transfer between rare earth ions were used widely to enhance the near infrared emission of rare earth ions. In this paper, a new method for near infrared emission enhancement of rare-earth is reported. The CeO{sub 2}: Er{sup 3+}, Yb{sup 3+} inverse opals with the photonic band gaps at the 500 and 450 nm were prepared by using polystyrene colloidal crystal as templates, and their near infrared emission properties were investigated. The results show that the near infrared emission property of the CeO{sub 2}: Er{sup 3+}, Yb{sup 3+} inverse opals depends on the overlapped extend between the excited light and photonic band gap. The near infrared emission located at the 1540 nm of the CeO{sub 2}: Er{sup 3+}, Yb{sup 3+} inverse opals have been enhanced obviously when the wavelength of the excitation light overlapped with photonic band gaps edge, which is attributed to the slow light effect of photonic crystals. The enhancement of near infrared emission may be important for the development of infrared laser and amplifiers for optical communication.

  9. Chromosome heteromorphisms in the Japanese, 3

    International Nuclear Information System (INIS)

    The type and frequency of chromosome variants detected by the C-staining method were ascertained in 1,857 individuals residing in Hiroshima. The most frequent heteromorphic variant was the total inversion of the C-band in chromosome 9 found in 27 individuals (1.45%). The total inversion of the C-band in chromosome 1 was not seen in this sample, but the partial inversion of the C-band in chromosome 1 was found in 18 persons (0.97%). Partial inversion was also detected in the C-band in chromosome 9 in 22 individuals (1.18%). In chromosome 16, neither total nor partial inversion of the C-band was observed in the present study. The frequencies of chromosomes 1, 9, and 16 with a very large C-band were 0.70%, 0.22%, and 0.54%, respectively. Aside from these (1, 9, and 16) a very large C-band was found occasionally in chromosomes 4, 5, 6, 11, 12, 14, and 15, and an unusual insertion of the Y chromosome was observed. A total of 128 C-band variants (6.89%) was found in the 1,857 Hiroshima residents. (author)

  10. Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.

    Science.gov (United States)

    Aviv, H; Lieber, C; Yenamandra, A; Desposito, F

    1997-06-27

    Chromosome analysis of a newborn boy with Down syndrome resulted in the identification of a family with an unusual derivative chromosome 22. The child has 46 chromosomes, including two chromosomes 21, one normal chromosome 22, and a derivative chromosome 22. Giemsa banding and fluorescent in situ hybridization (FISH) studies show that the derivative chromosome is chromosome 22 with evidence of both paracentric and pericentric inversions, joined to the long arm of chromosome 21 from 21q21.2 to qter. The rearrangement results in partial trisomy 21 extending from 21q21.2 to 21q terminus in the patient. The child's mother, brother, maternal aunt, and maternal grandmother are all carriers of the derivative chromosome. All have 45 chromosomes, with one normal chromosome 21, one normal chromosome 22, and the derivative chromosome 22. The rearrangement results in the absence of the short arm, the centromere, and the proximal long arm of chromosome 21 (del 21pter-21q21.2) in carriers. Carriers of the derivative chromosome in this family have normal physical appearance, mild learning disabilities and poor social adjustment. PMID:9182781

  11. Constructing inverse V-type TiO{sub 2}-based photocatalyst via bio-template approach to enhance the photosynthetic water oxidation

    Energy Technology Data Exchange (ETDEWEB)

    Jiang, Jinghui; Zhou, Han; Ding, Jian; Zhang, Fan; Fan, Tongxiang, E-mail: txfan@sjtu.edu.cn; Zhang, Di

    2015-08-30

    Graphical abstract: Inverse V-type TiO{sub 2}-based photocatalyst was synthesized by using cross-linked titanium precursor to duplicate bio-template. - Highlights: • Cross-linked titanium precursor can facilitate an accurate duplication of templates. • In situ deposition of Ag{sup 0} from AgBr can maintain the completeness of surface structure. • Perfect inverse V-type Ag{sup 0}/TiO{sub 2} can achieve efficient water oxidation. - Abstract: Bio-template approach was employed to construct inverse V-type TiO{sub 2}-based photocatalyst with well distributed AgBr in TiO{sub 2} matrix by making dead Troides Helena wings with inverse V-type scales as the template. A cross-linked titanium precursor with homogenous hydrolytic rate, good liquidity, and low viscosity was employed to facilitate a perfect duplication of the template and the dispersion of AgBr based on appropriate pretreatment of the template by alkali and acid. The as-synthesized inverse V-type TiO{sub 2}/AgBr can be turned into inverse V-type TiO{sub 2}/Ag{sup 0} from AgBr photolysis during photocatalysis to achieve in situ deposition of Ag{sup 0} in TiO{sub 2} matrix, by this approach, to avoid the deformation of surface microstructure inherited from the template. The result showed that the cooperation of perfect inverse V-type structure and the well distributed TiO{sub 2}/Ag{sup 0} microstructures can efficiently boost the photosynthetic water oxidation compared to non-inverse V-type TiO{sub 2}/Ag{sup 0} and TiO{sub 2}/Ag{sup 0} without using template. The anti-reflection function of inverse V-type structure and the plasmatic effect of Ag{sup 0} might be able to account for the enhanced photon capture and efficient photoelectric conversion.

  12. Alternative Lengthening of Telomeres-An Enhanced Chromosomal Instability in Aggressive Non-MYCN Amplified and Telomere Elongated Neuroblastomas

    NARCIS (Netherlands)

    G. Lundberg; D. Sehic; J.K. Lansberg; I. Ora; A. Frigyesi; V. Castel; S. Navarro; M. Piqueras; T. Martinsson; R. Noguera; D. Gisselsson

    2011-01-01

    Telomere length alterations are known to cause genomic instability and influence clinical course in several tumor types, but have been little investigated in neuroblastoma (NB), one of the most common childhood tumors. In the present study, telomere-dependent chromosomal instability and telomere len

  13. Enhanced Automated Canopy Characterization from Hyperspectral Data by a Novel Two Step Radiative Transfer Model Inversion Approach

    Directory of Open Access Journals (Sweden)

    Wolfgang Wagner

    2009-11-01

    Full Text Available Automated, image based methods for the retrieval of vegetation biophysical and biochemical variables are often hampered by the lack of a priori knowledge about land cover and phenology, which makes the retrieval a highly underdetermined problem. This study addresses this problem by presenting a novel approach, called CRASh, for the concurrent retrieval of leaf area index, leaf chlorophyll content, leaf water content and leaf dry matter content from high resolution solar reflective earth observation data. CRASh, which is based on the inversion of the combined PROSPECT+SAILh radiative transfer model (RTM, explores the benefits of combining semi-empirical and physically based approaches. The approach exploits novel ways to address the underdetermined problem in the context of an automated retrieval from mono-temporal high resolution data. To regularize the inverse problem in the variable domain, RTM inversion is coupled with an automated land cover classification. Model inversion is based on a two step lookup table (LUT approach: First, a range of possible solutions is selected from a previously calculated LUT based on the analogy between measured and simulated reflectance. The final solution is determined from this subset by minimizing the difference between the variables used to simulate the spectra contained in the reduced LUT and a first guess of the solution. This first guess of the variables is derived from predictive semi-empirical relationships between classical vegetation indices and the single variables. Additional spectral regularization is obtained by the use of hyperspectral data. Results show that estimates obtained with CRASh are significantly more accurate than those obtained with a tested conventional RTM inversion and semi-empirical approach. Accuracies obtained in this study are comparable to the results obtained by various authors for better constrained inversions that assume more a priori information. The completely automated

  14. Hobo transposons causing chromosomal breakpoints.

    OpenAIRE

    Ladevèze, V; Aulard, S.; Chaminade, N; Périquet, G; Lemeunier, F

    1998-01-01

    Several laboratory surveys have shown that transposable elements (TEs) can cause chromosomal breaks and lead to inversions, as in dysgenic crosses involving P-elements. However, it is not presently clear what causes inversions in natural populations of Drosophila. The only direct molecular studies must be taken as evidence against the involvement of mobile elements. Here, in Drosophila lines transformed with the hobo transposable element, and followed for 100 generations, we show the appearan...

  15. Novel Functional MAR Elements of Double Minute Chromosomes in Human Ovarian Cells Capable of Enhancing Gene Expression

    OpenAIRE

    Jin, Yan; Liu, Zheng; Cao, Wei; Ma, Xinying; Fan, Yihui; YU, Yang; Bai, Jing; Chen, Feng; Rosales, Jesusa; Lee, Ki-Young; Fu, Songbin

    2012-01-01

    Double minute chromosomes or double minutes (DMs) are cytogenetic hallmarks of extrachromosomal genomic amplification and play a critical role in tumorigenesis. Amplified copies of oncogenes in DMs have been associated with increased growth and survival of cancer cells but DNA sequences in DMs which are mostly non-coding remain to be characterized. Following sequencing and bioinformatics analyses, we have found 5 novel matrix attachment regions (MARs) in a 682 kb DM in the human ovarian cance...

  16. [Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].

    Science.gov (United States)

    Crippa, L; Ferrier, S

    1975-03-01

    The cytogenetic study of a case of Fanconi syndrome in a 16-year-old boy revealed besides chromosomal breakages, quadriradials and dicentric chromosomes, a pericentric inversion of chromosome No. 1. An uncle and an aunt on the paternal side presented likewise this pericentric inversion, however without breakages or clinical signs of Fanconi syndrome. Another paternal aunt showed short thumbs, but without chromosomal anomalies. The authors point to possible genetic repercussions of this familial pericentric inversion. PMID:1165481

  17. Sensitivity enhancement in natural-abundance solid-state 33S MAS NMR spectroscopy employing adiabatic inversion pulses to the satellite transitions

    Science.gov (United States)

    Hansen, Michael Ryan; Brorson, Michael; Bildsøe, Henrik; Skibsted, Jørgen; Jakobsen, Hans J.

    2008-02-01

    The WURST (wideband uniform rate smooth truncation) and hyperbolic secant (HS) pulse elements have each been employed as pairs of inversion pulses to induce population transfer (PT) between the four energy levels in natural abundance solid-state 33S (spin I = 3/2) MAS NMR, thereby leading to a significant gain in intensity for the central transition (CT). The pair of inversion pulses are applied to the satellite transitions for a series of inorganic sulfates, the sulfate ions in the two cementitious materials ettringite and thaumasite, and the two tetrathiometallates (NH 4) 2WS 4 and (NH 4) 2MoS 4. These materials all exhibit 33S quadrupole coupling constants ( CQ) in the range 0.1-1.0 MHz, with precise CQ values being determined from analysis of the PT enhanced 33S MAS NMR spectra. The enhancement factors for the WURST and HS elements are quite similar and are all in the range 1.74-2.25 for the studied samples, in excellent agreement with earlier reports on HS enhancement factors (1.6-2.4) observed for other spin I = 3/2 nuclei with similar CQ values (0.3-1.2 MHz). Thus, a time saving in instrument time by a factor up to five has been achieved in natural abundance 33S MAS NMR, a time saving which is extremely welcome for this important low-γ nucleus.

  18. Sustained hole inversion layer in a wide-bandgap metal-oxide semiconductor with enhanced tunnel current

    Science.gov (United States)

    Shoute, Gem; Afshar, Amir; Muneshwar, Triratna; Cadien, Kenneth; Barlage, Douglas

    2016-02-01

    Wide-bandgap, metal-oxide thin-film transistors have been limited to low-power, n-type electronic applications because of the unipolar nature of these devices. Variations from the n-type field-effect transistor architecture have not been widely investigated as a result of the lack of available p-type wide-bandgap inorganic semiconductors. Here, we present a wide-bandgap metal-oxide n-type semiconductor that is able to sustain a strong p-type inversion layer using a high-dielectric-constant barrier dielectric when sourced with a heterogeneous p-type material. A demonstration of the utility of the inversion layer was also investigated and utilized as the controlling element in a unique tunnelling junction transistor. The resulting electrical performance of this prototype device exhibited among the highest reported current, power and transconductance densities. Further utilization of the p-type inversion layer is critical to unlocking the previously unexplored capability of metal-oxide thin-film transistors, such applications with next-generation display switches, sensors, radio frequency circuits and power converters.

  19. Chromosomal variations in the primate Alouatta seniculus seniculus.

    Science.gov (United States)

    Yunis, E J; Torres de Caballero, O M; Ramírez, C; Ramírez, Z E

    1976-01-01

    Chromosome analysis in 23 specimens of Alouatta s. seniculus trapped in different localities of Colombia were examined with the C- and Q-banding techniques. The chromosome numbers (2n=44) showed variations from 2n = 43 to 2n = 45 involving three and five microchromosomes, respectively. Two specimens also showed a structural chromosome variation involving a pericentric inversion of the chromosome No. 13. Chromosome measurements revealed an X chromosome with a value significantly smaller to that established for the standard mammalian X chromosome. PMID:817992

  20. Joint inversion of receiver functions and surface waves with enhanced preconditioning on densely distributed CNDSN stations: Crustal and upper mantle structure beneath China

    Science.gov (United States)

    Chen, Youlin; Niu, Fenglin

    2016-02-01

    We present shear wave velocity structure beneath China by joint modeling of teleseismic receiver function and Rayleigh wave group velocity dispersion data observed at +1000 permanent broadband seismic stations in the Chinese National Digital Seismic Network (CNDSN). A ray-parameter-based stacking method is employed to minimize artifacts in stacking receiver functions from different sources. The Rayleigh wave dispersion curve is extracted from group velocity tomographic models at all applicable periods. Enhanced preconditions are applied on the linearized iterative inversion to regularize and balance multiple types of data. The velocity profile inversion at each station starts from an initial model derived from sediments, crustal thickness, Vp/Vs ratio and Pn/Sn models. This multistep approach not only reduces uncertainty and nonuniqueness of the velocity inversion but also efficiently fills information gap in each data set. We then generate a 3-D S velocity model by combining and smoothing all the 1-D models. The obtained 3-D model reveals crustal and upper mantle velocity structures that are well correlated with tectonic features of China, for example, our model shows a clear east-west bimodal distribution at 35 km deep, low velocity in the crust beneath central and eastern Tibetan plateau, and sedimentary structure in major cratons and basins. Our model is consistent with existing tomographic models in large scale but provides more structural details in regional and local scales.

  1. Enhancement of lasing without inversion induced by spontaneously generated coherence in an open ladder-type system

    Institute of Scientific and Technical Information of China (English)

    LI Ai-yun; FAN Xi-jun; BU Fan-ge; QIAO Hong-xia; XU Zhi-zhan

    2006-01-01

    It is shown that, in an open ladder-type atomic system with spontaneously generated coherence (SGC),regardless of the existence of an incoherent pumping,a lasing without inversion (LWI) gain is always remarkable larger than in the system without SGC,by adjusting the strength of SGC. Moreover,LWI gain in the system without incoherent pumping is much larger than that with incoherent pumping, within some strength of SGC; while in the corresponding closed system with SGC, we can't obtain LWI gain at any strength of SGC,if no incoherent pumping is applied.

  2. Relationship of enhanced survival during confluent holding recovery in ultraviolet-irradiated human and mouse cells to chromosome aberrations, sister chromatid exchanges, and DNA repair

    International Nuclear Information System (INIS)

    The relationship among cellular recovery from ultraviolet light (UVL) damage, cytogenetic changes, and DNA repair was studied in density-inhibited cultures of mouse 10T1/2 cells and human diploid fibroblasts. Both cell types showed similar UVL sensitivites to cell killing and a similar enhancement in survival when subculture to a low density was delayed for 24-48 hr after irradiation (potential lethal damage repair). However, excision repair as measured by the loss of endonuclease-sensitive sites was biphasic and much slower in the mouse cells: 30% were removed in the first 24 hr compared with 60% removed in the first 5 hr in the human cells. More than five times as many excision-induced DNA strand breaks as measured by alkaline elution were detected in the human as compared with the mouse cells. DNA-protein crosslinks were removed with a T 1/2 of 30 hr after 10 J/m2 UVL. UVL induced few chromosomal aberrations in the human cells as compared with mouse cells. The frequency of induced sister chromatid exchanges and the pattern of their decline during recovery were similar in both cell types; the kinetics of this decline was similar to that observed for the removal of DNA-protein crosslinks, and slowly removed endonuclease-sensitive sites. Chromosome aberrations, however, correlated with rapidly removed endo sites and DNA strand breaks and appeared to reflect the number of residual pyrimidine dimers in DNA at the time of its replication

  3. Color-Coded Batteries - Electro-Photonic Inverse Opal Materials for Enhanced Electrochemical Energy Storage and Optically Encoded Diagnostics.

    Science.gov (United States)

    O'Dwyer, Colm

    2016-07-01

    For consumer electronic devices, long-life, stable, and reasonably fast charging Li-ion batteries with good stable capacities are a necessity. For exciting and important advances in the materials that drive innovations in electrochemical energy storage (EES), modular thin-film solar cells, and wearable, flexible technology of the future, real-time analysis and indication of battery performance and health is crucial. Here, developments in color-coded assessment of battery material performance and diagnostics are described, and a vision for using electro-photonic inverse opal materials and all-optical probes to assess, characterize, and monitor the processes non-destructively in real time are outlined. By structuring any cathode or anode material in the form of a photonic crystal or as a 3D macroporous inverse opal, color-coded "chameleon" battery-strip electrodes may provide an amenable way to distinguish the type of process, the voltage, material and chemical phase changes, remaining capacity, cycle health, and state of charge or discharge of either existing or new materials in Li-ion or emerging alternative battery types, simply by monitoring its color change. PMID:26784012

  4. Enhancement of the Click Chemistry for the Inverse Diels Alder Technology by Functionalization of Amide-Based Monomers

    Science.gov (United States)

    Pipkorn, Ruediger; Wiessler, Manfred; Waldeck, Waldemar; Lorenz, Peter; Muehlhausen, Ute; Fleischhacker, Heinz; Koch, Mario; Braun, Klaus

    2011-01-01

    In the near future personalized medicine with nucleic acids will play a key role in molecular diagnostics and therapy, which require new properties of the nucleic acids, like stability against enzymatic degradation. Here we demonstrate that the replacement of nucleobases with PNA by functional molecules harbouring either a dienophile or a diene reactivity is feasible and confers all new options for functionalization. These newly developed derivatives allow independent multi-ligations of multi-faceted components by use of the inverse Diels Alder technology. The high chemical stability and the ease of synthesis qualify these polyamide building blocks as favourites for intracellular delivery and targeting applications. This allows local drug concentrations sufficient for imaging and therapy and simultaneously a reduction of the application doses. It is important to point out that this technology is not restricted to ligation of medicament material; it is also a candidate to develop new and highly efficient active compounds for a “sustainable pharmacy”. PMID:21750642

  5. Enhancement of the Click Chemistry for the Inverse Diels Alder Technology by Functionalization of Amide-Based Monomers

    Directory of Open Access Journals (Sweden)

    Ruediger Pipkorn, Manfred Wiessler, Waldemar Waldeck, Peter Lorenz, Ute Muehlhausen, Heinz Fleischhacker, Mario Koch, Klaus Braun

    2011-01-01

    Full Text Available In the near future personalized medicine with nucleic acids will play a key role in molecular diagnostics and therapy, which require new properties of the nucleic acids, like stability against enzymatic degradation. Here we demonstrate that the replacement of nucleobases with PNA by functional molecules harbouring either a dienophile or a diene reactivity is feasible and confers all new options for functionalization. These newly developed derivatives allow independent multi-ligations of multi-faceted components by use of the inverse Diels Alder technology. The high chemical stability and the ease of synthesis qualify these polyamide building blocks as favourites for intracellular delivery and targeting applications. This allows local drug concentrations sufficient for imaging and therapy and simultaneously a reduction of the application doses. It is important to point out that this technology is not restricted to ligation of medicament material; it is also a candidate to develop new and highly efficient active compounds for a “sustainable pharmacy”.

  6. Chromosomal geometry in the interface from the frequency of the radiation induced chromosome aberrations

    International Nuclear Information System (INIS)

    Ionizing radiation induces DNA double-strand breaks (DSBs) and their interaction and illegitimate recombination produces chromosomal aberrations. Stable chromosomal aberrations comprise inter-chromosomal events (translocations) and intra-chromosomal events (inversions). When DSBs induction and interaction is done at random, and the proximity effects are neglected, the expected relation between translocations and inversions is F=86, based on chromosome arm length. The number of translocations and inversions is analyzed by using G-banding in 16 lymphocytes cultures from blood samples acutely irradiated with γ-rays (dose range: 0,5 Gy - 3 Gy). The result obtained was: F=13,5, significantly smaller than F=86. Literature data show similar small F values, but strongly spread. The excess of inversions could be explained by a 'proximity effect', it means that more proximate DSBs have more interaction probability. Therefore, it is possible to postulate a special chromosome arrangement during irradiation and the subsequent interval. We propose a model where individual chromosomes show spherical confinement with some degree of overlapping and DSBs induction proportional to cross section. A DSBs interaction probability function with cut-off length= 1μ is assumed. According to our results, the confinement volume is ≅ 6.4% of the nuclear volume. Nevertheless, we presume that large spread in F data could be due to temporal variation in overlapping and spatial chromosomal confinement. (authors). 14 refs

  7. Chromosomal aberration

    International Nuclear Information System (INIS)

    Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G1 phase. (author)

  8. Assessment of myocardial infarction in mice by Late Gadolinium Enhancement MR imaging using an inversion recovery pulse sequence at 9.4T

    Directory of Open Access Journals (Sweden)

    Herlihy Amy H

    2008-01-01

    Full Text Available Abstract Purpose To demonstrate the feasibility of using an inversion recovery pulse sequence and to define the optimal inversion time (TI to assess myocardial infarction in mice by late gadolinium enhancement (LGE MRI at 9.4T, and to obtain the maximal contrast between the infarcted and the viable myocardium. Methods MRI was performed at 9.4T in mice, two days after induction of myocardial infarction (n = 4. For cardiovascular MR imaging, a segmented magnetization-prepared fast low angle shot (MP-FLASH sequence was used with varied TIs ranging from 40 to 420 ms following administration of gadolinium-DTPA at 0.6 mmol/kg. Contrast-to-noise (CNR and signal-to-noise ratio (SNR were measured and compared for each myocardial region of interest (ROI. Results The optimal TI, which corresponded to a minimum SNR in the normal myocardium, was 268 ms ± 27.3. The SNR in the viable myocardium was significantly different from that found in the infarcted myocardium (17.2 ± 2.4 vs 82.1 ± 10.8; p = 0.006 leading to a maximal relative SI (Signal Intensity between those two areas (344.9 ± 60.4. Conclusion Despite the rapid heart rate in mice, our study demonstrates that LGE MRI can be performed at 9.4T using a protocol similar to the one used for clinical MR diagnosis of myocardial infarction.

  9. Enhanced inverse spin-Hall voltage in (001) oriented Fe4N/Pt polycrystalline films without contribution of planar-Hall effect

    Science.gov (United States)

    Isogami, Shinji; Tsunoda, Masakiyo

    2016-04-01

    In this study, the output DC electric voltage (V out) generated by a Pt-capped Fe4N bilayer film (Fe4N/Pt) under ferromagnetic resonance conditions at room temperature was assessed. The contributions from the inverse spin-Hall effect (ISHE), the planar-Hall effect (PHE) and the anomalous-Hall effect (AHE) were separated from the output voltage by analysis of V out values determined at varying external field polar angles. The results showed that the polarity of the ISHE (V ISHE) component of V out was opposite to that of the PHE (V PHE). As a result, the magnitude of the intrinsic V ISHE was beyond V out by as much as the magnitude of V PHE. The X-ray diffraction structural analysis revealed the polycrystal of the Fe4N/Pt with (001) orientation, which might be one of the possible mechanisms for enhanced intrinsic V ISHE.

  10. A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating EVI1 expression

    OpenAIRE

    Yamazaki, Hiromi; Suzuki, Mikiko; Otsuki, Akihito; Shimizu, Ritsuko; Bresnick, Emery H.; Engel, James Douglas; Yamamoto, Masayuki

    2014-01-01

    Chromosomal inversion between 3q21 and 3q26 results in high-risk acute myeloid leukemia (AML). Here, we identified a mechanism whereby a GATA2 distal hematopoietic enhancer (G2DHE or −77-kb enhancer) is brought into close proximity to the EVI1 gene in inv(3)(q21;q26) inversions, leading to leukemogenesis. We examined the contribution of G2DHE to leukemogenesis by creating a bacterial artificial chromosome (BAC) transgenic model that recapitulates the inv(3)(q21;q26) allele. Transgenic mice ha...

  11. Clinical implications of sulcal enhancement on postcontrast fluid attenuated inversion recovery images in patients with acute stroke symptoms

    International Nuclear Information System (INIS)

    Hyperintense acute reperfusion marker (HARM) without diffusion abnormalities is occasionally found in patients with an acute stroke. This study was to determine the prevalence and clinical implications of HARM without diffusion abnormalities. There was a retrospective review of magnetic resonance images 578 patients with acute strokes and identified those who did not have acute infarction lesions, as mapped by diffusion-weighted imaging (DWI). These patients were classified into an imaging-negative stroke and HARM without diffusion abnormalities groups, based on the DWI findings and postcontrast fluid attenuated inversion recovery images. The National Institutes of Health Stroke Scale (NIHSS) scores at admission, 1 day, and 7 days after the event, as well as clinical data and risk factors, were compared between the imaging-negative stroke and HARM without diffusion abnormalities groups. Seventy-seven acute stroke patients without any DWI abnormalities were found. There were 63 patients with an imaging-negative stroke (accounting for 10.9% of 578) and 13 patients with HARM without diffusion abnormalities (accounting for 2.4% of 578). The NIHSS scores at admission were higher in HARM without diffusion abnormalities group than in the imaging-negative stroke group (median, 4.5 vs. 1.0; p < 0.001), but the scores at 7 days after the event were not significantly different between the two groups (median, 0 vs. 0; p = 1). The patients with HARM without diffusion abnormalities were significantly older, compared with patients with an imaging-negative stroke (mean, 73.1 years vs. 55.9 years; p < 0.001). Patients with HARM without diffusion abnormalities are older and have similarly favorable short-term neurological outcomes, compared with the patients with imaging-negative stroke

  12. Clinical implications of sulcal enhancement on postcontrast fluid attenuated inversion recovery images in patients with acute stroke symptoms

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hyuk Joon; Kim, Eun Hee; Lee, Kyung Mi; Kim, Jae Hyoung; Bae, Yun Jung; Choi, Byoung Se; Jung, Cheol Kyu [Dept. of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2015-08-15

    Hyperintense acute reperfusion marker (HARM) without diffusion abnormalities is occasionally found in patients with an acute stroke. This study was to determine the prevalence and clinical implications of HARM without diffusion abnormalities. There was a retrospective review of magnetic resonance images 578 patients with acute strokes and identified those who did not have acute infarction lesions, as mapped by diffusion-weighted imaging (DWI). These patients were classified into an imaging-negative stroke and HARM without diffusion abnormalities groups, based on the DWI findings and postcontrast fluid attenuated inversion recovery images. The National Institutes of Health Stroke Scale (NIHSS) scores at admission, 1 day, and 7 days after the event, as well as clinical data and risk factors, were compared between the imaging-negative stroke and HARM without diffusion abnormalities groups. Seventy-seven acute stroke patients without any DWI abnormalities were found. There were 63 patients with an imaging-negative stroke (accounting for 10.9% of 578) and 13 patients with HARM without diffusion abnormalities (accounting for 2.4% of 578). The NIHSS scores at admission were higher in HARM without diffusion abnormalities group than in the imaging-negative stroke group (median, 4.5 vs. 1.0; p < 0.001), but the scores at 7 days after the event were not significantly different between the two groups (median, 0 vs. 0; p = 1). The patients with HARM without diffusion abnormalities were significantly older, compared with patients with an imaging-negative stroke (mean, 73.1 years vs. 55.9 years; p < 0.001). Patients with HARM without diffusion abnormalities are older and have similarly favorable short-term neurological outcomes, compared with the patients with imaging-negative stroke.

  13. Quantification of traumatic meningeal injury using dynamic contrast enhanced (DCE) fluid-attenuated inversion recovery (FLAIR) imaging

    Science.gov (United States)

    Castro, Marcelo A.; Williford, Joshua P.; Cota, Martin R.; MacLaren, Judy M.; Dardzinski, Bernard J.; Latour, Lawrence L.; Pham, Dzung L.; Butman, John A.

    2016-03-01

    Traumatic meningeal injury is a novel imaging marker of traumatic brain injury, which appears as enhancement of the dura on post-contrast T2-weighted FLAIR images, and is likely associated with inflammation of the meninges. Dynamic Contrast Enhanced MRI provides a better discrimination of abnormally perfused regions. A method to properly identify those regions is presented. Images of seventeen patients scanned within 96 hours of head injury with positive traumatic meningeal injury were normalized and aligned. The difference between the pre- and last post-contrast acquisitions was segmented and voxels in the higher class were spatially clustered. Spatial and morphological descriptors were used to identify the regions of enhancement: a) centroid; b) distance to the brain mask from external voxels; c) distance from internal voxels; d) size; e) shape. The method properly identified thirteen regions among all patients. The method failed in one case due to the presence of a large brain lesion that altered the mask boundaries. Most false detections were correctly rejected resulting in a sensitivity and specificity of 92.9% and 93.6%, respectively.

  14. Synthetic chromosomes.

    Science.gov (United States)

    Schindler, Daniel; Waldminghaus, Torsten

    2015-11-01

    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. PMID:26111960

  15. Quantitative assessment of hepatic function: modified look-locker inversion recovery (MOLLI) sequence for T1 mapping on Gd-EOB-DTPA-enhanced liver MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Jeong Hee [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); Lee, Jeong Min; Han, Joon Koo; Choi, Byung Ihn [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); Seoul National University College of Medicine, Institute of Radiation Medicine, Jongno-gu, Seoul (Korea, Republic of); Paek, Munyoung [Siemens Healthcare, Seoul (Korea, Republic of)

    2016-06-15

    To determine whether multislice T1 mapping of the liver using a modified look-locker inversion recovery (MOLLI) sequence on gadoxetic acid-enhanced magnetic resonance imaging (MRI) can be used as a quantitative tool to estimate liver function and predict the presence of oesophageal or gastric varices. Phantoms filled with gadoxetic acid were scanned three times using MOLLI sequence to test repeatability. Patients with chronic liver disease or liver cirrhosis who underwent gadoxetic acid-enhanced liver MRI including MOLLI sequence at 3 T were included (n = 343). Pre- and postcontrast T1 relaxation times of the liver (T1liver), changes between pre- and postcontrast T1liver (ΔT1liver), and adjusted postcontrast T1liver (postcontrast T1liver-T1spleen/T1spleen) were compared among Child-Pugh classes. In 62 patients who underwent endoscopy, all T1 parameters and spleen sizes were correlated with varices. Phantom study showed excellent repeatability of MOLLI sequence. As Child-Pugh scores increased, pre- and postcontrast T1liver were significantly prolonged (P < 0.001), and ΔT1liver and adjusted postcontrast T1liver decreased (P< 0.001). Adjusted postcontrast T1liver and spleen size were independently associated with varices (R{sup 2} = 0.29, P < 0.001). T1 mapping of the liver using MOLLI sequence on gadoxetic acid-enhanced MRI demonstrated potential in quantitatively estimating liver function, and adjusted postcontrast T1liver was significantly associated with varices. (orig.)

  16. A versatile reporter system for CRISPR-mediated chromosomal rearrangements

    OpenAIRE

    Li, Yingxiang; Park, Angela I.; Mou, Haiwei; Colpan, Cansu; Bizhanova, Aizhan; Akama-Garren, Elliot; Joshi, Nik; Hendrickson, Eric A; Feldser, David; Yin, Hao; Anderson, Daniel G.; Jacks, Tyler; Weng, Zhiping; Xue, Wen

    2015-01-01

    Although chromosomal deletions and inversions are important in cancer, conventional methods for detecting DNA rearrangements require laborious indirect assays. Here we develop fluorescent reporters to rapidly quantify CRISPR/Cas9-mediated deletions and inversions. We find that inversion depends on the non-homologous end-joining enzyme LIG4. We also engineer deletions and inversions for a 50 kb Pten genomic region in mouse liver. We discover diverse yet sequence-specific indels at the rearrang...

  17. Inverse Dynamics

    OpenAIRE

    2007-01-01

    This media offers the student a chance to review how to exploit differential flatness of the system and emply inverse dynamics in the virtual domain to compute the states and controls that were not approximated with the reference functions. Last modified: 5/18/2009

  18. Chromosome Microarray.

    Science.gov (United States)

    Anderson, Sharon

    2016-01-01

    Over the last half century, knowledge about genetics, genetic testing, and its complexity has flourished. Completion of the Human Genome Project provided a foundation upon which the accuracy of genetics, genomics, and integration of bioinformatics knowledge and testing has grown exponentially. What is lagging, however, are efforts to reach and engage nurses about this rapidly changing field. The purpose of this article is to familiarize nurses with several frequently ordered genetic tests including chromosomes and fluorescence in situ hybridization followed by a comprehensive review of chromosome microarray. It shares the complexity of microarray including how testing is performed and results analyzed. A case report demonstrates how this technology is applied in clinical practice and reveals benefits and limitations of this scientific and bioinformatics genetic technology. Clinical implications for maternal-child nurses across practice levels are discussed. PMID:27276104

  19. Poly(vinylidene fluoride-co-hexafluoropropylene) phase inversion coating as a diffusion layer to enhance the cathode performance in microbial fuel cells

    KAUST Repository

    Yang, Wulin

    2014-12-01

    A low cost poly(vinylidene fluoride-co-hexafluoropropylene) (PVDF-HFP) phase inversion coating was developed as a cathode diffusion layer to enhance the performance of microbial fuel cells (MFCs). A maximum power density of 1430 ± 90 mW m-2 was achieved at a PVDF-HFP loading of 4.4 mg cm-2 (4:1 polymer:carbon black), with activated carbon as the oxygen reduction cathode catalyst. This power density was 31% higher than that obtained with a more conventional platinum (Pt) catalyst on carbon cloth (Pt/C) cathode with a poly(tetrafluoroethylene) (PTFE) diffusion layer (1090 ± 30 mW m-2). The improved performance was due in part to a larger oxygen mass transfer coefficient of 3 × 10-3 cm s-1 for the PVDF-HFP coated cathode, compared to 1.7 × 10-3 cm s -1 for the carbon cloth/PTFE-based cathode. The diffusion layer was resistant to electrolyte leakage up to water column heights of 41 ± 0.5 cm (4.4 mg cm-2 loading of 4:1 polymer:carbon black) to 70 ± 5 cm (8.8 mg cm-2 loading of 4:1 polymer:carbon black). This new type of PVDF-HFP/carbon black diffusion layer could reduce the cost of manufacturing cathodes for MFCs. © 2014 Elsevier B.V. All rights reserved.

  20. Mitosis. Microtubule detyrosination guides chromosomes during mitosis.

    Science.gov (United States)

    Barisic, Marin; Silva e Sousa, Ricardo; Tripathy, Suvranta K; Magiera, Maria M; Zaytsev, Anatoly V; Pereira, Ana L; Janke, Carsten; Grishchuk, Ekaterina L; Maiato, Helder

    2015-05-15

    Before chromosomes segregate into daughter cells, they align at the mitotic spindle equator, a process known as chromosome congression. Centromere-associated protein E (CENP-E)/Kinesin-7 is a microtubule plus-end-directed kinetochore motor required for congression of pole-proximal chromosomes. Because the plus-ends of many astral microtubules in the spindle point to the cell cortex, it remains unknown how CENP-E guides pole-proximal chromosomes specifically toward the equator. We found that congression of pole-proximal chromosomes depended on specific posttranslational detyrosination of spindle microtubules that point to the equator. In vitro reconstitution experiments demonstrated that CENP-E-dependent transport was strongly enhanced on detyrosinated microtubules. Blocking tubulin tyrosination in cells caused ubiquitous detyrosination of spindle microtubules, and CENP-E transported chromosomes away from spindle poles in random directions. Thus, CENP-E-driven chromosome congression is guided by microtubule detyrosination. PMID:25908662

  1. Genome landscape and evolutionary plasticity of chromosomes in malaria mosquitoes.

    Directory of Open Access Journals (Sweden)

    Ai Xia

    Full Text Available BACKGROUND: Nonrandom distribution of rearrangements is a common feature of eukaryotic chromosomes that is not well understood in terms of genome organization and evolution. In the major African malaria vector Anopheles gambiae, polymorphic inversions are highly nonuniformly distributed among five chromosomal arms and are associated with epidemiologically important adaptations. However, it is not clear whether the genomic content of the chromosomal arms is associated with inversion polymorphism and fixation rates. METHODOLOGY/PRINCIPAL FINDINGS: To better understand the evolutionary dynamics of chromosomal inversions, we created a physical map for an Asian malaria mosquito, Anopheles stephensi, and compared it with the genome of An. gambiae. We also developed and deployed novel Bayesian statistical models to analyze genome landscapes in individual chromosomal arms An. gambiae. Here, we demonstrate that, despite the paucity of inversion polymorphisms on the X chromosome, this chromosome has the fastest rate of inversion fixation and the highest density of transposable elements, simple DNA repeats, and GC content. The highly polymorphic and rapidly evolving autosomal 2R arm had overrepresentation of genes involved in cellular response to stress supporting the role of natural selection in maintaining adaptive polymorphic inversions. In addition, the 2R arm had the highest density of regions involved in segmental duplications that clustered in the breakpoint-rich zone of the arm. In contrast, the slower evolving 2L, 3R, and 3L, arms were enriched with matrix-attachment regions that potentially contribute to chromosome stability in the cell nucleus. CONCLUSIONS/SIGNIFICANCE: These results highlight fundamental differences in evolutionary dynamics of the sex chromosome and autosomes and revealed the strong association between characteristics of the genome landscape and rates of chromosomal evolution. We conclude that a unique combination of various

  2. Sequencing papaya X and Yh chromosomes reveals molecular basis of incipient sex chromosome evolution.

    Science.gov (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

    2012-08-21

    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. PMID:22869747

  3. Mechanisms of Chromosome Number Evolution in Yeast

    Science.gov (United States)

    Gordon, Jonathan L.; Byrne, Kevin P.; Wolfe, Kenneth H.

    2011-01-01

    The whole-genome duplication (WGD) that occurred during yeast evolution changed the basal number of chromosomes from 8 to 16. However, the number of chromosomes in post-WGD species now ranges between 10 and 16, and the number in non-WGD species (Zygosaccharomyces, Kluyveromyces, Lachancea, and Ashbya) ranges between 6 and 8. To study the mechanism by which chromosome number changes, we traced the ancestry of centromeres and telomeres in each species. We observe only two mechanisms by which the number of chromosomes has decreased, as indicated by the loss of a centromere. The most frequent mechanism, seen 8 times, is telomere-to-telomere fusion between two chromosomes with the concomitant death of one centromere. The other mechanism, seen once, involves the breakage of a chromosome at its centromere, followed by the fusion of the two arms to the telomeres of two other chromosomes. The only mechanism by which chromosome number has increased in these species is WGD. Translocations and inversions have cycled telomere locations, internalizing some previously telomeric genes and creating novel telomeric locations. Comparison of centromere structures shows that the length of the CDEII region is variable between species but uniform within species. We trace the complete rearrangement history of the Lachancea kluyveri genome since its common ancestor with Saccharomyces and propose that its exceptionally low level of rearrangement is a consequence of the loss of the non-homologous end joining (NHEJ) DNA repair pathway in this species. PMID:21811419

  4. Modification of ZnS-inserting layer in the TiO2 inverse opal-based photoanode to enhance the efficiency of quantum dot-sensitized solar cells

    Science.gov (United States)

    Deng, Fei; Wan, Xiangyu; Mei, Xingan; Fan, Runzhou; Yan, Xuemin; Wan, Li; Shi, Dean; Xiong, Yan

    2016-07-01

    Modification of ZnS-inserting layer in the titanium dioxide (TiO2) inverse opal-based photoanode was investigated, and it is an effective and easy approach to enhance the efficiency of quantum dot-sensitized solar cells (QDSSCs). The introduction of ZnS between TiO2 and quantum dots (QDs) not only enhanced the light harvesting of QDs on its top, but also lessened the charge-transfer resistances at the TiO2/QD/electrolyte interfaces. The TiO2 inverse opal-based QDSSCs increased the energy conversion efficiency by modifying the ZnS-inserting layer in the photoanode, particularly the CdS/CdSe QD co-sensitized solar cells which attained 79% rate of increase in cell efficiency.

  5. Numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana

    OpenAIRE

    Ji, X.

    2014-01-01

    Numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana. I studied numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana. The large genomic changes are important for gene balance control, gene expression and regulation, and may affect the plant’s phenotype. Moreover, chromosome changes, in particular polyploidy, inversions and translocations play a signif...

  6. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content

    NARCIS (Netherlands)

    J.F. Hughes; H. Skaletsky; T. Pyntikova; T.A. Graves; S.K.M. van Daalen; P.J. Minx; R.S. Fulton; S.D. McGrath; D.P. Locke; C. Friedman; B.J. Trask; E.R. Mardis; W.C. Warren; S. Repping; S. Rozen; R.K. Wilson; D.C. Page

    2010-01-01

    The human Y chromosome began to evolve from an autosome hundreds of millions of years ago, acquiring a sex-determining function and undergoing a series of inversions that suppressed crossing over with the X chromosome(1,2). Little is known about the recent evolution of the Y chromosome because only

  7. Third Harmonic Imaging using a Pulse Inversion

    DEFF Research Database (Denmark)

    Rasmussen, Joachim; Du, Yigang; Jensen, Jørgen Arendt

    The pulse inversion (PI) technique can be utilized to separate and enhance harmonic components of a waveform for tissue harmonic imaging. While most ultrasound systems can perform pulse inversion, only few image the 3rd harmonic component. PI pulse subtraction can isolate and enhance the 3rd...

  8. Field inversion gel electrophoresis with different pulse time ramps.

    OpenAIRE

    Heller, C.(Fakultät für Physik, Ludwig-Maximilians-Universität München, München, Germany); Pohl, F M

    1990-01-01

    The influence of different pulse time ramps on the separation of yeast chromosomes with field inversion gel electrophoresis (FIGE) was investigated by the means of two dimensional gel electrophoresis. The problem of band inversion, which makes it difficult to distinguish DNA molecules of different size, has been solved by using double randomized pulse times. A major disadvantage of the field inversion technique is thereby overcome, making this system comparable to other pulsed field techniques.

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

    DEFF Research Database (Denmark)

    Zhou, Qi; Wang, Jun; Huang, Ling; Nie, Wenhui; Wang, Jinhuan; Liu, Yan; Zhao, Xiangyi; Yang, Fengtang; Wang, Wen

    2008-01-01

    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...... 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...

  10. Lattice animal model of chromosome organization

    Science.gov (United States)

    Iyer, Balaji V. S.; Arya, Gaurav

    2012-07-01

    Polymer models tied together by constraints of looping and confinement have been used to explain many of the observed organizational characteristics of interphase chromosomes. Here we introduce a simple lattice animal representation of interphase chromosomes that combines the features of looping and confinement constraints into a single framework. We show through Monte Carlo simulations that this model qualitatively captures both the leveling off in the spatial distance between genomic markers observed in fluorescent in situ hybridization experiments and the inverse decay in the looping probability as a function of genomic separation observed in chromosome conformation capture experiments. The model also suggests that the collapsed state of chromosomes and their segregation into territories with distinct looping activities might be a natural consequence of confinement.

  11. The Population Genomics of Trans-Specific Inversion Polymorphisms in Anopheles gambiae

    OpenAIRE

    White, Bradley J.; Cheng, Changde; Sangaré, Djibril; Lobo, Neil F.; Collins, Frank H.; Besansky, Nora J

    2009-01-01

    In the malaria mosquito Anopheles gambiae polymorphic chromosomal inversions may play an important role in adaptation to environmental variation. Recently, we used microarray-based divergence mapping combined with targeted resequencing to map nucleotide differentiation between alternative arrangements of the 2La inversion. Here, we applied the same technique to four different polymorphic inversions on the 2R chromosome of An. gambiae. Surprisingly, divergence was much lower between alternativ...

  12. Retrospective dosimetry using chromosome painting

    International Nuclear Information System (INIS)

    Chromosome aberration frequency measured in peripheral lymphocytes of persons exposed to ionizing radiation has been used since 1960s for dose assessment. Suspected overexposure is usually evaluated by the frequency of dicentrics and centric rings using an appropriate in vitro calibration curve. However, these chromosome aberrations are unstable with time after exposure and dose reconstruction may encounter uncertainties when the time between the exposure and the analysis is considerable or even unknown. It appears that translocations persist with time after exposure and may be used as an indication of acute past overexposures. Moreover, they appear to accumulate the cytogenetical information, which correlates with the dose received under fractionated, chronic or even occupational exposure conditions. Translocations may be detected using G-banding, which allows to score the total amount of radiation induced translocations but it is a time consuming method, or by Chromosome Painting, a method base on the Fluorescence in situ Hybridization (FISH) technique, painting only some chromosome pairs with specific whole chromosome probes and then extrapolating the observed translocation frequencies to the full genome. The latter method allows a faster aberration scoring than G-banding and appears to be the most promissory tool for biodosimetry, particularly when it is necessary to assess low doses and consequently to score a large number of metaphases, e.g. radiation workers exposed within dose limits. As with the unstable chromosome aberration, it is necessary an in vitro calibration curve based on the frequency of stable chromosome aberrations to assess doses. Our laboratory performed calibration curves for Co60 γ-rays based on the frequencies of unstable (dicentrics and centric rings detected by conventional Giemsa staining) and stable chromosome aberrations (translocations and inversions, detected by G-banding). In order to minimize the interlaboratory variability, we

  13. Chromosome differentiation patterns during cichlid fish evolution

    Directory of Open Access Journals (Sweden)

    Nirchio Mauro

    2010-06-01

    Full Text Available Abstract Background Cichlid fishes have been the subject of increasing scientific interest because of their rapid adaptive radiation which has led to an extensive ecological diversity and their enormous importance to tropical and subtropical aquaculture. To increase our understanding of chromosome evolution among cichlid species, karyotypes of one Asian, 22 African, and 30 South American cichlid species were investigated, and chromosomal data of the family was reviewed. Results Although there is extensive variation in the karyotypes of cichlid fishes (from 2n = 32 to 2n = 60 chromosomes, the modal chromosome number for South American species was 2n = 48 and the modal number for the African ones was 2n = 44. The only Asian species analyzed, Etroplus maculatus, was observed to have 46 chromosomes. The presence of one or two macro B chromosomes was detected in two African species. The cytogenetic mapping of 18S ribosomal RNA (18S rRNA gene revealed a variable number of clusters among species varying from two to six. Conclusions The karyotype diversification of cichlids seems to have occurred through several chromosomal rearrangements involving fissions, fusions and inversions. It was possible to identify karyotype markers for the subfamilies Pseudocrenilabrinae (African and Cichlinae (American. The karyotype analyses did not clarify the phylogenetic relationship among the Cichlinae tribes. On the other hand, the two major groups of Pseudocrenilabrinae (tilapiine and haplochromine were clearly discriminated based on the characteristics of their karyotypes. The cytogenetic mapping of 18S ribosomal RNA (18S rRNA gene did not follow the chromosome diversification in the family. The dynamic evolution of the repeated units of rRNA genes generates patterns of chromosomal distribution that do not help follows the phylogenetic relationships among taxa. The presence of B chromosomes in cichlids is of particular interest because they may not be represented in

  14. Mitotic chromosome structure

    International Nuclear Information System (INIS)

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  15. Engineering Mouse Chromosomes with Cre-loxP: Range, Efficiency, and Somatic Applications

    OpenAIRE

    Zheng, Binhai; Sage, Marijke; Sheppeard, Elizabeth A.; Jurecic, Vesna; Bradley, Allan

    2000-01-01

    Chromosomal rearrangements are important resources for genetic studies. Recently, a Cre-loxP-based method to introduce defined chromosomal rearrangements (deletions, duplications, and inversions) into the mouse genome (chromosome engineering) has been established. To explore the limits of this technology systematically, we have evaluated this strategy on mouse chromosome 11. Although the efficiency of Cre-loxP-mediated recombination decreases with increasing genetic distance when the two endp...

  16. Chromosome studies in some Stevia. Cav. (Compositae) species from Southern Brazil

    OpenAIRE

    Adriana P. Frederico; Paulo M. Ruas; Marin-Morales, Maria A.; Claudete F. Ruas; Jimi N. Nakajima

    1996-01-01

    Karyotypes of six species of the genus Stevia from Southern Brazil were studied, utilizing root tip metaphases. All species were diploid with 2n = 22 chromosomes. It was possible to identify each species by chromosome morphology. The basic chromosome number for Brazilian species of Stevia is X = 11. This number is also found in almost all South American species. We suggest that in Stevia there is an evolutionary trend toward chromosomal rearrangement, caused mainly by pericentric inversions. ...

  17. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J;

    1983-01-01

    A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were...... unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2.4). Women with a known familial translocation and women 40 years or more have a relative risk of 5.7 of having an unbalanced chromosome......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...

  18. Chromosome evolution in malaria mosquitoes inferred from physically mapped genome assemblies.

    Science.gov (United States)

    Sharakhov, Igor V; Artemov, Gleb N; Sharakhova, Maria V

    2016-04-01

    Polymorphic inversions in mosquitoes are distributed nonrandomly among chromosomes and are associated with ecological, behavioral, and physiological adaptations related to pathogen transmission. Despite their significance, the patterns and mechanism of genome rearrangements are not well understood. Recent sequencing and physical mapping of the genomes for 16 Anopheles mosquito species provided an opportunity to study chromosome evolution at the highest resolution. New studies revealed that fixed rearrangement accumulated [Formula: see text]3 times faster on the X chromosome than on autosomes. The highest densities of transposable elements (TEs) and satellites of different sizes have also been found on the X chromosome, suggesting a mechanism for the inversion generation. The high rate of X chromosome rearrangements is in sharp contrast with the paucity of polymorphic inversions on the X in the majority of anopheline species. This paper highlights the advances in understanding chromosome evolution in malaria vectors and discusses possible future directions in studying mechanisms and biological roles of genome rearrangements. PMID:27021248

  19. Review of the Y chromosome and hypertension

    Directory of Open Access Journals (Sweden)

    D. Ely

    2000-06-01

    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.

  20. 伴有inv(16)重排的儿童急性髓系白血病的临床与实验研究%Clinical and laboratory features of pediatric acute myeloid leukemia with inversion of chromosome 16

    Institute of Scientific and Technical Information of China (English)

    何亚香; 胡绍燕; 薛永权; 王红英; 杨乃超; 邵雪君; 徐俊; 季正华; 黄益萍; 丁云芳

    2012-01-01

    transcript detected by RT-PCR,and 2 cases with trisomy 8 ( + 8 ).The results were compared with the morphology,immunophenotype,karyotype and RT-PCR.Result Morphologically,12 cases were diagnosed as M4EO,2 as M4,and 1 as M2a lmmunophenotypically,all 13 AML cases with inv(16) showed positive expression of CD13 and CD33,but without the expression of any lymphoid lineage antigens.Karyotyping analysis with G-banding detected inv (16) in 10 AML cases,including 9 M4EO cases and 1 M2a,but only 5 positive cases were detected using R-banding technique.Among them,2 cases had simultaneous + 8 and trisomy22 ( + 22),one had + 22 only in addition to inv(16).D-FISH revealed a CBFβ-MYH11 rearrangement in 13 cases of AML with positive RT-PCR results,and the mean positive rate of cell detection was 55.15% (range 37.0% -86.0% ).The complete remission rate (CR) and median survival period in this series of inv(16) AML were 81.5% and 11 months,respectively,of whom,8 cases were still in CR.Relapse and karyotypic evolution were seen in case 5 with + 8,+ 22 in addition to inv(16).Conclusion AML with inv(16) is a special subtype.Most cases belong to M4 EO.Its prognosis is good in general,but it seems to be an unfavorable feature for AM L with inv(16) and + 8,+ 22 simultaneously,especially with karyotypic evolution.For detection of inv (16),G-banding technique is evidently superior to R-banding technique.D-FISH combined with RT-PCR are more sensitive and reliable than chromosome banding analysis.

  1. Inverse problems of geophysics

    International Nuclear Information System (INIS)

    This report gives an overview and the mathematical formulation of geophysical inverse problems. General principles of statistical estimation are explained. The maximum likelihood and least square fit methods, the Backus-Gilbert method and general approaches for solving inverse problems are discussed. General formulations of linearized inverse problems, singular value decomposition and properties of pseudo-inverse solutions are given

  2. Chromosome painting in plants.

    NARCIS (Netherlands)

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

    2001-01-01

    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

  3. M-Band Analysis of Chromosome Aberrations in Human Epithelial Cells Induced By Low- and High-Let Radiations

    Science.gov (United States)

    Hada, M.; Gersey, B.; Saganti, P. B.; Wilkins, R.; Gonda, S. R.; Cucinotta, F. A.; Wu, H.

    2007-01-01

    Energetic primary and secondary particles pose a health risk to astronauts in extended ISS and future Lunar and Mars missions. High-LET radiation is much more effective than low-LET radiation in the induction of various biological effects, including cell inactivation, genetic mutations, cataracts and cancer. Most of these biological endpoints are closely correlated to chromosomal damage, which can be utilized as a biomarker for radiation insult. In this study, human epithelial cells were exposed in vitro to gamma rays, 1 GeV/nucleon Fe ions and secondary neutrons whose spectrum is similar to that measured inside the Space Station. Chromosomes were condensed using a premature chromosome condensation technique and chromosome aberrations were analyzed with the multi-color banding (mBAND) technique. With this technique, individually painted chromosomal bands on one chromosome allowed the identification of both interchromosomal (translocation to unpainted chromosomes) and intrachromosomal aberrations (inversions and deletions within a single painted chromosome). Results of the study confirmed the observation of higher incidence of inversions for high-LET irradiation. However, detailed analysis of the inversion type revealed that all of the three radiation types in the study induced a low incidence of simple inversions. Half of the inversions observed in the low-LET irradiated samples were accompanied by other types of intrachromosome aberrations, but few inversions were accompanied by interchromosome aberrations. In contrast, Fe ions induced a significant fraction of inversions that involved complex rearrangements of both the inter- and intrachromosome exchanges.

  4. Novel gene acquisition on carnivore Y chromosomes.

    Directory of Open Access Journals (Sweden)

    2006-03-01

    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.

  5. A versatile reporter system for CRISPR-mediated chromosomal rearrangements.

    Science.gov (United States)

    Li, Yingxiang; Park, Angela I; Mou, Haiwei; Colpan, Cansu; Bizhanova, Aizhan; Akama-Garren, Elliot; Joshi, Nik; Hendrickson, Eric A; Feldser, David; Yin, Hao; Anderson, Daniel G; Jacks, Tyler; Weng, Zhiping; Xue, Wen

    2015-01-01

    Although chromosomal deletions and inversions are important in cancer, conventional methods for detecting DNA rearrangements require laborious indirect assays. Here we develop fluorescent reporters to rapidly quantify CRISPR/Cas9-mediated deletions and inversions. We find that inversion depends on the non-homologous end-joining enzyme LIG4. We also engineer deletions and inversions for a 50 kb Pten genomic region in mouse liver. We discover diverse yet sequence-specific indels at the rearrangement fusion sites. Moreover, we detect Cas9 cleavage at the fourth nucleotide on the non-complementary strand, leading to staggered instead of blunt DNA breaks. These reporters allow mechanisms of chromosomal rearrangements to be investigated. PMID:26018130

  6. Chimpanzee chromosome 12 is homologous to human chromosome 2q

    Energy Technology Data Exchange (ETDEWEB)

    Sun, N. C.; Sun, C. R.Y.; Ho, T.

    1977-01-01

    Most of the 46 human chromosomes find their counterparts in the 48 chimpanzee chromosomes except for chromosome 2 which has been hypothesized to have been derived from a centric fusion of two chimpanzee acrocentric chromosomes. These two chromosomes correspond to the human chromosomes 2p and 2g. This conclusion is based primarily on chromosome banding techniques, and the somatic cell hybridization technique has also been used. (HLW)

  7. A systematic study of field inversion gel electrophoresis.

    OpenAIRE

    Heller, C.; Pohl, F M

    1989-01-01

    The mobilities of oligomers of phage lambda DNA and of yeast chromosomes in agarose gels during field inversion gel electrophoresis (FIGE) were measured at different pulse times and electric fields. Also the ratios between forward and backward pulse times and/or field gradients were varied. The problem of 'band inversion' during FIGE, leading to an ambiguity in the mobility of large DNA fragments, was solved by using two dimensional gel electrophoresis with different parameters in the first a...

  8. Chromosome studies in some Stevia. Cav. (Compositae species from Southern Brazil

    Directory of Open Access Journals (Sweden)

    Adriana P. Frederico

    1996-01-01

    Full Text Available Karyotypes of six species of the genus Stevia from Southern Brazil were studied, utilizing root tip metaphases. All species were diploid with 2n = 22 chromosomes. It was possible to identify each species by chromosome morphology. The basic chromosome number for Brazilian species of Stevia is X = 11. This number is also found in almost all South American species. We suggest that in Stevia there is an evolutionary trend toward chromosomal rearrangement, caused mainly by pericentric inversions. It was found that, in addition to aneuploidy and polyploidy, chromosomal rearrangements are common in the tribe Eupatorieae.

  9. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    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. Inversion in the lactose region of Escherichia coli K-12: inversion termini map within IS3 elements alpha 3 beta 3 and beta 5 alpha 5.

    OpenAIRE

    Savić, D J; Romac, S P; Ehrlich, S D

    1983-01-01

    In this work, the previously described inversion in the lactose region of the Escherichia coli K-12 chromosome (D. J. Savić, J. Bacteriol. 140:311-319, 1979) is analyzed in greater detail. The results presented indicate that the inversion most likely occurred by a homologous recombination between alpha 3 beta 3 and beta 5 alpha 5 IS3 elements.

  11. 3D constrained inversion of geophysical and geological information applying Spatial Mutually Constrained Inversion.

    Science.gov (United States)

    Nielsen, O. F.; Ploug, C.; Mendoza, J. A.; Martínez, K.

    2009-05-01

    The need for increaseding accuracy and reduced ambiguities in the inversion results has resulted in focus on the development of more advanced inversion methods of geophysical data. Over the past few years more advanced inversion techniques have been developed to improve the results. Real 3D-inversion is time consuming and therefore often not the best solution in a cost-efficient perspective. This has motivated the development of 3D constrained inversions, where 1D-models are constrained in 3D, also known as a Spatial Constrained Inversion (SCI). Moreover, inversion of several different data types in one inversion has been developed, known as Mutually Constrained Inversion (MCI). In this paper a presentation of a Spatial Mutually Constrained Inversion method (SMCI) is given. This method allows 1D-inversion applied to different geophysical datasets and geological information constrained in 3D. Application of two or more types of geophysical methods in the inversion has proved to reduce the equivalence problem and to increase the resolution in the inversion results. The use of geological information from borehole data or digital geological models can be integrated in the inversion. In the SMCI, a 1D inversion code is used to model soundings that are constrained in three dimensions according to their relative position in space. This solution enhances the accuracy of the inversion and produces distinct layers thicknesses and resistivities. It is very efficient in the mapping of a layered geology but still also capable of mapping layer discontinuities that are, in many cases, related to fracturing and faulting or due to valley fills. Geological information may be included in the inversion directly or used only to form a starting model for the individual soundings in the inversion. In order to show the effectiveness of the method, examples are presented from both synthetic data and real data. The examples include DC-soundings as well as land-based and airborne TEM

  12. Magnetic resonance imaging of pelvic entheses - a systematic comparison between short tau inversion recovery (STIR) and T1-weighted, contrast-enhanced, fat-saturated sequences

    Energy Technology Data Exchange (ETDEWEB)

    Klang, Eyal; Aharoni, Dvora; Rimon, Uri; Eshed, Iris [Tel Aviv University, Department of Diagnostic Imaging, Sheba Medical Center, Tel Aviv (Israel); Hermann, Kay-Geert [Department of Radiology, Charite University Hospital, Berlin (Germany); Herman, Amir [Sheba Medical Center, Department of Orthopedic Surgery, Tel-Hashomer (Israel); Tel Aviv University, The Sackler School of Medicine, Tel Aviv (Israel); Shazar, Nachshon [Sheba Medical Center, Department of Orthopedic Surgery, Tel-Hashomer (Israel)

    2014-04-15

    To assess the contribution of contrast material in detecting and evaluating enthesitis of pelvic entheses by MRI. Sixty-seven hip or pelvic 1.5-T MRIs (30:37 male:female, mean age: 53 years) were retrospectively evaluated for the presence of hamstring and gluteus medius (GM) enthesitis by two readers (a resident and an experienced radiologist). Short tau inversion recovery (STIR) and T1-weighted pre- and post-contrast (T1+Gd) images were evaluated by each reader at two sessions. A consensus reading of two senior radiologists was regarded as the gold standard. Clinical data was retrieved from patients' referral form and medical files. Cohen's kappa was used for intra- and inter-observer agreement calculation. Diagnostic properties were calculated against the gold standard reading. A total of 228 entheses were evaluated. Gold standard analysis diagnosed 83 (36 %) enthesitis lesions. Intra-reader reliability for the experienced reader was significantly (p = 0.0001) higher in the T1+Gd images compared to the STIR images (hamstring: k = 0.84/0.45, GM: k = 0.84/0.47). Sensitivity and specificity increased from 0.74/0.8 to 0.87/0.9 in the STIR images and T1+Gd sequences. Intra-reader reliability for the inexperienced reader was lower (p > 0.05). Evidence showing that contrast material improves the reliability, sensitivity, and specificity of detecting enthesitis supports its use in this setting. (orig.)

  13. The intracellular portion of GITR enhances NGF-promoted neurite growth through an inverse modulation of Erk and NF-κB signalling

    Directory of Open Access Journals (Sweden)

    Laura McKelvey

    2012-08-01

    NF-κB transcription factors play a key role in regulating the growth of neural processes in the developing PNS. Although several secreted proteins have been shown to activate NF-κB to inhibit the growth of developing sympathetic neurons, it is unknown how the endogenous level of NF-κB activity present in these neurons is restricted to allow neurite growth to occur during their normal development. Here we show that activation of the glucocorticoid-induced tumour necrosis factor receptor (GITR inhibits NF-κB activation while promoting the activation of Erk in developing sympathetic neurons. Conversely, inhibition of GITR results in an increase in NF-κB dependent gene transcription and a decrease in Erk activation leading to a reduction in neurite growth. These findings show that GITR signalling can regulate the extent of sympathetic neurite growth through an inverse modulation of Erk and NF-κB signalling, which provides an optimal environment for NGF-promoted growth.

  14. Diagnostic value of contrast-enhanced fluid-attenuated inversion-recovery MRI for intracranial tumors in comparison with post-contrast T1W spin-echo MRI

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Background Contrast-enhanced fluid-attenuated inversion-recovery (FLAIR) magnetic resonance imaging (MRI) has been reported to have higher sensitivity for detecting leptomeningeal disease compared with contrast- enhanced T1-weighted MRI (CE T1WI). However, currently there are no studies showing the potential value of clinical applications of contrast-enhanced FLAIR (CE FLAIR) sequence in diagnosing intracranial tumors in a larger group of patients. The purpose of this study was to evaluate the diagnostic value of CE FLAIR in comparison with CE T1WI for intracranial tumors and to provide more information for clinical diagnosis and therapy.Methods One hundred and four consecutive cases of intracranial tumors referred for CE brain MRI were analyzed with regard to FLAIR and T1WI pre- and post-administration of Gd-DTPA. The CE FLAIR and CE T1WI were evaluated independently by two radiologists for the number of examinations with one or more enhanced lesions, the number and location of enhanced lesions per examination, signal-to-noise ratio (SNR) and contrast-enhancement ratio (CER) of lesions, as well as the size and extent of the enhanced lesions. Results In 98 of 104 cases, enhanced lesions were seen both on the FLAIR and T1W images. More lesions were seen on CE T1WI (n=120) than those on CE FLAIR sequence (n=117), but no differences of statistical significance were found between the two sequences (P>0.05). Four lesions were revealed only on the CE FLAIR images whereas 7 lesions were only found on CE T1WI. Enhanced lesions located in the cerebral hemisphere or the forth ventricle were revealed much more on CE T1WI than on CE FLAIR images. However, CE FLAIR images may be useful in showing superficial abnormalities and those located in the sulcus or lateral ventricle. The CER and contrast-to-noise ratio (CNR) on CE T1WI was significantly higher (t=7.10,P=0.00;t=9.67,P=0.00, respectively), but grey matter/white matter contrast was lower (t=2.46,P=0.02) than those on CE

  15. Chromosomal evolution among leaf-nosed nectarivorous bats – evidence from cross-species chromosome painting (Phyllostomidae, Chiroptera)

    Science.gov (United States)

    2013-01-01

    Background New World leaf-nosed bats, Phyllostomidae, represent a lineage of Chiroptera marked by unprecedented morphological/ecological diversity and extensive intergeneric chromosomal reorganization. There are still disagreements regarding their systematic relationships due to morphological convergence among some groups. Their history of karyotypic evolution also remains to be documented. Results To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species Macrotus californicus. We tested the potential of these paints as phylogenetic tools by looking for chromosomal signatures in two lineages of nectarivorous phyllostomids whose independent origins have been statistically supported by molecular phylogenies. By examining the chromosomal homologies defined by chromosome painting among two representatives of the subfamily Glossophaginae (Glossophaga soricina and Anoura cultrata) and one species from the subfamily Lonchophyllinae (Lonchophylla concava), we found chromosomal correspondence in regions not previously detected by other comparative cytogenetic techniques. We proposed the corresponding human chromosomal segments for chromosomes of the investigated species and found two syntenic associations shared by G. soricina and A. cultrata. Conclusion Comparative painting with whole chromosome-specific paints of M. californicus demonstrates an extensive chromosomal reorganization within the two lineages of nectarivorous phyllostomids, with a large number of chromosomes shared between M. californicus and G. soricina. We show that the evolution of nectar-feeding bats occurs mainly by reshuffling of chiropteran Evolutionarily Conserved Units (ECUs). Robertsonian fusions/fissions and inversions seem to be important modifiers of phyllostomid karyotypes, and autapomorphic character states are common within species. Macrotus californicus chromosome paints will be a valuable tool for documenting the pattern of

  16. The prevalence of chromosomal abnormalities in subgroups of infertile men

    NARCIS (Netherlands)

    Dul, E. C.; Groen, H.; van Ravenswaaij-Arts, C. M. A.; Dijkhuizen, T.; van Echten-Arends, J.; Land, J. A.

    2012-01-01

    BACKGROUND: The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of c

  17. Plant sex chromosome evolution.

    Science.gov (United States)

    Charlesworth, Deborah

    2013-01-01

    It is now well established that plants have an important place in studies of sex chromosome evolution because of the repeated independent evolution of separate sexes and sex chromosomes. There has been considerable recent progress in studying plant sex chromosomes. In this review, I focus on how these recent studies have helped clarify or answer several important questions about sex chromosome evolution, and I shall also try to clarify some common misconceptions. I also outline future work that will be needed to make further progress, including testing some important ideas by genetic, molecular, and developmental approaches. Systems with different ages can clearly help show the time course of events during changes from an ancestral co-sexual state (hermaphroditism or monoecy), and I will also explain how different questions can be studied in lineages whose dioecy or sex chromosomes evolved at different times in the past. PMID:23125359

  18. Neo-sex chromosomes and adaptive potential in tortricid pests

    Science.gov (United States)

    Changes in genome architecture often have a significant effect on ecological specialization and speciation. This effect may be further enhanced by involvement of sex chromosomes playing a disproportionate role in reproductive isolation. We have physically mapped the Z chromosome of the major pome fr...

  19. Vibrio chromosomes share common history

    OpenAIRE

    Gevers Dirk; Chang Sarah; Chang LeeAnn; Kirkup Benjamin C; Polz Martin F

    2010-01-01

    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 ...

  20. Defective DNA double-strand break repair underlies enhanced tumorigenesis and chromosomal instability in p27 deficient mice with growth-factor induced oligodendrogliomas

    OpenAIRE

    See, Wendy L.; Miller, Jeffrey P.; Squatrito, Massimo; Holland, Eric; Resh, Marilyn D.; Koff, Andrew

    2010-01-01

    The tumor suppressive activities of the Kip-family of cdk inhibitors often go beyond their role in regulating the cell cycle. Here, we demonstrate that p27 enhances Rad51 accumulation during repair of double-strand DNA breaks. Progression of PDGF-induced oligodendrogliomas was accelerated in mice lacking the cyclin-cdk binding activities of p27kip1. Cell lines were developed from RCAS-PDGF infection of nestin-tv-a brain progenitor cells in culture. p27 deficiency did not affect cell prolifera...

  1. Inverse Quadratic Transportation Problem

    OpenAIRE

    Jalilzadeh, Afrooz; Hamedani, Erfan Yazdandoost

    2014-01-01

    Many research has been conducted about quadratic programming and inverse optimization. In this paper we present the combination aspect of these subjects, applying on transportation problem. First, we obtain the inverse form of quadratic tranportation problem under $L_1$ norm by using duality as well as introducing the optimal value. Then, we do the same process for inverse quadratic transportation problem (IQTP) under $L_\\infty$ norm.

  2. Acute puerperal uterine inversion

    International Nuclear Information System (INIS)

    Objective: To determine the frequency, causes, clinical presentations, management and maternal mortality associated with acute puerperal inversion of the uterus. Materials and Methods: All the patients who developed acute puerperal inversion of the uterus either in or outside the JPMC were included in the study. Patients of chronic uterine inversion were not included in the present study. Abdominal and vaginal examination was done to confirm and classify inversion into first, second or third degrees. Results: 57036 deliveries and 36 acute uterine inversions occurred during the study period, so the frequency of uterine inversion was 1 in 1584 deliveries. Mismanagement of third stage of labour was responsible for uterine inversion in 75% of patients. Majority of the patients presented with shock, either hypovolemic (69%) or neurogenic (13%) in origin. Manual replacement of the uterus under general anaesthesia with 2% halothane was successfully done in 35 patients (97.5%). Abdominal hysterectomy was done in only one patient. There were three maternal deaths due to inversion. Conclusion: Proper education and training regarding placental delivery, diagnosis and management of uterine inversion must be imparted to the maternity care providers especially to traditional birth attendants and family physicians to prevent this potentially life-threatening condition. (author)

  3. Multiples waveform inversion

    KAUST Repository

    Zhang, D. L.

    2013-01-01

    To increase the illumination of the subsurface and to eliminate the dependency of FWI on the source wavelet, we propose multiples waveform inversion (MWI) that transforms each hydrophone into a virtual point source with a time history equal to that of the recorded data. These virtual sources are used to numerically generate downgoing wavefields that are correlated with the backprojected surface-related multiples to give the migration image. Since the recorded data are treated as the virtual sources, knowledge of the source wavelet is not required, and the subsurface illumination is greatly enhanced because the entire free surface acts as an extended source compared to the radiation pattern of a traditional point source. Numerical tests on the Marmousi2 model show that the convergence rate and the spatial resolution of MWI is, respectively, faster and more accurate then FWI. The potential pitfall with this method is that the multiples undergo more than one roundtrip to the surface, which increases attenuation and reduces spatial resolution. This can lead to less resolved tomograms compared to conventional FWI. The possible solution is to combine both FWI and MWI in inverting for the subsurface velocity distribution.

  4. Sequential cloning of chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Lacks, S.A.

    1991-12-31

    A method for sequential cloning of chromosomal DNA and chromosomal DNA cloned by this method are disclosed. The method includes the selection of a target organism having a segment of chromosomal DNA to be sequentially cloned. A first DNA segment, having a first restriction enzyme site on either side. homologous to the chromosomal DNA to be sequentially cloned is isolated. 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 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.

  5. A new chromosome was born: comparative chromosome painting in Boechera.

    Science.gov (United States)

    Koch, Marcus A

    2015-09-01

    Comparative chromosome painting is a powerful tool to study the evolution of chromosomes and genomes. Analyzing karyotype evolution in cruciferous plants highlights the origin of aberrant chromosomes in apomictic Boechera and further establishes the cruciferous plants as important model system for our understanding of plant chromosome and genome evolution. PMID:26228436

  6. Dynamical inverse problems

    CERN Document Server

    Gladwell, Graham ML

    2011-01-01

    The papers in this volume present an overview of the general aspects and practical applications of dynamic inverse methods, through the interaction of several topics, ranging from classical and advanced inverse problems in vibration, isospectral systems, dynamic methods for structural identification, active vibration control and damage detection, imaging shear stiffness in biological tissues, wave propagation, to computational and experimental aspects relevant for engineering problems.

  7. About Inverse 3-SAT

    OpenAIRE

    Labouze, Xavier

    2013-01-01

    The Inverse 3-SAT problem is known to be coNP Complete. This article shows a new interesting way to solve directly the problem by using closure under resolution and partial assignment properties. An algorithm is proposed which lets solve the (co)Inverse 3-SAT problem.

  8. Inverse Kinematics using Quaternions

    DEFF Research Database (Denmark)

    Henriksen, Knud; Erleben, Kenny; Engell-Nørregård, Morten

    In this project I describe the status of inverse kinematics research, with the focus firmly on the methods that solve the core problem. An overview of the different methods are presented Three common methods used in inverse kinematics computation have been chosen as subject for closer inspection....

  9. Chimpanzee chromosome 13 is homologous to human chromosome 2p

    Energy Technology Data Exchange (ETDEWEB)

    Sun, N. C.; Sun, C. R.Y.; Ho, T.

    1977-01-01

    Similarities between human and chimpanzee chromosomes are shown by chromosome banding techniques and somatic cell hybridization techniques. Cell hybrids were obtained from the chimpanzee lymphocyte LE-7, and the Chinese hamster mutant cell, Gal-2. Experiments showed that the ACPL, MDHs, and Gal-Act genes could be assigned to chimpanzee chromosome 13, and since these genes have been assigned to human chromosme 2p, it is suggested that chimpanzee chromosome 13 is homologous to human chromosome 2p. (HLW)

  10. Chromosome condensation and segmentation

    International Nuclear Information System (INIS)

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs

  11. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    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.

  12. 0-Semidistributive Inverse Semigroups

    Institute of Scientific and Technical Information of China (English)

    田振际

    2004-01-01

    @@ For an inverse semigroup S, the set L(S) of all inverse subsemigroups (including the empty set) of S forms a lattice with respect to intersection denoted as usual by ∩ and union, where the union is the inverse subsemigroup generated by inverse subsemigroups A, B of S. The set LF(S) of all full inverse subsemigroups of S forms a complete sublattice of L(S), with Es as zero element (Es is the set of all idempotent of S)(see [3,5,6]). Note, that if S a group, then LF(S)=L(S), its lattice of all subgroups of S. If S = G0 is a group with adjoined zero, then clearly LF(S) ≌ L(G).

  13. Chromosome numbers in Bromeliaceae

    OpenAIRE

    2000-01-01

    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. u...

  14. Micromechanics of human mitotic chromosomes

    International Nuclear Information System (INIS)

    Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed

  15. Vibrio chromosomes share common history

    Directory of Open Access Journals (Sweden)

    Gevers Dirk

    2010-05-01

    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.

  16. Perfusion Estimated With Rapid Dynamic Contrast-Enhanced Magnetic Resonance Imaging Correlates Inversely With Vascular Endothelial Growth Factor Expression and Pimonidazole Staining in Head-and-Neck Cancer: A Pilot Study

    International Nuclear Information System (INIS)

    Purpose: To analyze, in a pilot study, rapidly acquired dynamic contrast-enhanced (DCE)-MRI data with a general two-compartment exchange tracer kinetic model and correlate parameters obtained with measurements of hypoxia and vascular endothelial growth factor (VEGF) expression in patients with squamous cell carcinoma of the head and neck. Methods and Materials: Eight patients were scanned before surgery. The DCE-MRI data were acquired with 1.5-s temporal resolution and analyzed using the two-compartment exchange tracer kinetic model to obtain estimates of parameters including perfusion and permeability surface area. Twelve to 16 h before surgery, patients received an intravenous injection of pimonidazole. Samples taken during surgery were used to determine the level of pimonidazole staining using immunohistochemistry and VEGF expression using quantitative real-time polymerase chain reaction. Correlations between the biological and imaging data were examined. Results: Of the seven tumors fully analyzed, those that were poorly perfused tended to have high levels of pimonidazole staining (r = −0.79, p = 0.03) and VEGF expression (r = −0.82, p = 0.02). Tumors with low permeability surface area also tended to have high levels of hypoxia (r = −0.75, p = 0.05). Hypoxic tumors also expressed higher levels of VEGF (r = 0.82, p = 0.02). Conclusions: Estimates of perfusion obtained with rapid DCE-MRI data in patients with head-and-neck cancer correlate inversely with pimonidazole staining and VEGF expression.

  17. Perfusion Estimated With Rapid Dynamic Contrast-Enhanced Magnetic Resonance Imaging Correlates Inversely With Vascular Endothelial Growth Factor Expression and Pimonidazole Staining in Head-and-Neck Cancer: A Pilot Study

    Energy Technology Data Exchange (ETDEWEB)

    Donaldson, Stephanie B., E-mail: Stephanie.donaldson@physics.cr.man.ac.uk [School of Cancer and Enabling Sciences, University of Manchester, Manchester (United Kingdom) and North Western Medical Physics, The Christie, Manchester (United Kingdom); Betts, Guy [School of Cancer and Enabling Sciences, University of Manchester, Manchester (United Kingdom); Bonington, Suzanne C. [Department of Radiology, The Christie, Manchester (United Kingdom); Homer, Jarrod J. [School of Cancer and Enabling Sciences, University of Manchester, Manchester (United Kingdom); Department of Otolaryngology-Head-and-Neck Surgery, Manchester Royal Infirmary, Manchester (United Kingdom); Slevin, Nick J. [Department of Clinical Oncology, The Christie, Manchester (United Kingdom); Kershaw, Lucy E.; Valentine, Helen [School of Cancer and Enabling Sciences, University of Manchester, Manchester (United Kingdom); West, Catharine M.L. [School of Cancer and Enabling Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester (United Kingdom); Buckley, David L. [School of Cancer and Enabling Sciences, University of Manchester, Manchester (United Kindgom) and Division of Medical Physics, University of Leeds, Leeds (United Kingdom)

    2011-11-15

    Purpose: To analyze, in a pilot study, rapidly acquired dynamic contrast-enhanced (DCE)-MRI data with a general two-compartment exchange tracer kinetic model and correlate parameters obtained with measurements of hypoxia and vascular endothelial growth factor (VEGF) expression in patients with squamous cell carcinoma of the head and neck. Methods and Materials: Eight patients were scanned before surgery. The DCE-MRI data were acquired with 1.5-s temporal resolution and analyzed using the two-compartment exchange tracer kinetic model to obtain estimates of parameters including perfusion and permeability surface area. Twelve to 16 h before surgery, patients received an intravenous injection of pimonidazole. Samples taken during surgery were used to determine the level of pimonidazole staining using immunohistochemistry and VEGF expression using quantitative real-time polymerase chain reaction. Correlations between the biological and imaging data were examined. Results: Of the seven tumors fully analyzed, those that were poorly perfused tended to have high levels of pimonidazole staining (r = -0.79, p = 0.03) and VEGF expression (r = -0.82, p = 0.02). Tumors with low permeability surface area also tended to have high levels of hypoxia (r = -0.75, p = 0.05). Hypoxic tumors also expressed higher levels of VEGF (r = 0.82, p = 0.02). Conclusions: Estimates of perfusion obtained with rapid DCE-MRI data in patients with head-and-neck cancer correlate inversely with pimonidazole staining and VEGF expression.

  18. Three decades of studies on chromosomal polymorphism of Drosophila willistoni and description of fifty different rearrangements

    Directory of Open Access Journals (Sweden)

    Claudia Rohde

    2012-01-01

    Full Text Available Drosophila willistoni (Insecta, Diptera is considered a paradigm for evolutionary studies. Their chromosomes are characterized by multiple paracentric inversions that make it hard to identify and describe chromosomal poly-morphisms. In the present report we attempted to systematize the description of all the 50 inversions found in the last three decades, since we have been studying the chromosomes of several individuals of 30 different populations, including the one used in the genome sequencing project (Gd-H4-1. We present the photographic register of 11 arrangements in the left arm of the X chromosome (XL, eight in the right arm (XR, 10 in the left arm of chromosome II (IIL, eight in its right arm (IIR and 13 in chromosome III. This information also includes their breakpoints on the reference photomap. A clear geographic difference was detected in XL and XR, with different fixed arrangements depending on the origin of the population studied. Through the comparison of all X arrangements it was possible to infer the putative ancestral arrangements, i.e., those related to all the remaining arrangements through the small number of inversions that occurred in the past, which we will call XL-A and XR-A. In the autosomes (IIL/IIR and III, fixed inversions were detected, but most are segregating in different frequencies along the geographical distribution of the D. willistoni populations.

  19. Inversion flachseismischer Wellenfeldspektren

    OpenAIRE

    Forbriger, Thomas

    2001-01-01

    In dieser Arbeit stelle ich ein neues Verfahren zur Inversion flachseismischer Wellenfelder vor. Die Inversion erfolgt in zwei Schritten. Zunächst wird ein Phasenslowness-Frequenz-Spektrum (omega,p-Spektrum) der Seismogramme bestimmt. In einem zweiten Schritt werden dieses Spektrum und die Laufzeiten der Ersteinsätze gemeinsam zu einem rein Tiefen-abhängigen Modell der seismischen Geschwindigkeiten und der Diskontinuitäten des untersuchten Mediums invertiert. Typische flachseismische Messunge...

  20. Unique genomic sequences in human chromosome 16p are conserved in the great apes.

    Science.gov (United States)

    Tarzami, S T; Kringstein, A M; Conte, R A; Verma, R S

    1997-01-27

    In humans, acute myelomonocytic leukemia (AMML) with abnormal bone marrow eosinophilia is diagnosed by the presence of a pericentric inversion in chromosome 16, involving breakpoints p13;q23 [i.e., inv(16)(p13;q23)]. A pericentric inversion involves breaks that have occurred on the p and q arms and the segment in between is rotated 180 degrees and reattaches. The recent development of a "human micro-coatasome" painting probe for 16p contains unique DNA sequences that fluorescently label only the short arm of chromosome 16, which facilitates the identification of such inversions and represents an ideal tool for analyzing the "divergence/convergence" of the equivalent human chromosome 16 (PTR 18, GGO 17 and PPY 19) in the great apes, chimpanzee, gorilla and orangutan. When the probe is used on the type of pericentric inversion characteristic of AMML, signals are observed on the proximal portions (the regions closest to the centromere) of the long and short arms of chromosome 16. The probe hybridized to only the short arm of all three ape chromosomes and signals were not observed on the long arms, suggesting that a pericentric inversion similar to that seen in AMML has not occurred in any of these great apes. PMID:9037113

  1. Biphasic Effects of Nitric Oxide Radicals on Radiation-Induced Lethality and Chromosome Aberrations in Human Lung Cancer Cells Carrying Different p53 Gene Status

    International Nuclear Information System (INIS)

    Purpose: The aim of this study was to clarify the effects of nitric oxide (NO) on radiation-induced cell killing and chromosome aberrations in two human lung cancer cell lines with a different p53 gene status. Methods and Materials: We used wild-type (wt) p53 and mutated (m) p53 cell lines that were derived from the human lung cancer H1299 cell line, which is p53 null. The wtp53 and mp53 cell lines were generated by transfection of the appropriate p53 constructs into the parental cells. Cells were pretreated with different concentrations of isosorbide dinitrate (ISDN) (an NO donor) and/or 2-(4-Carboxyphenyl)-4,4,5,5-tetramethylimidazoline-1-oxyl-3-oxide (c-PTIO) (an NO scavenger) and then exposed to X-rays. Cell survival, apoptosis, and chromosome aberrations were scored by use of a colony-forming assay, Hoechst 33342 staining assay and TUNEL (terminal deoxynucleotidyl transferase-mediated dUTP [deoxyuridine triphosphate] nick end labeling) assay, and chromosomal banding techniques, respectively. Results: In wtp53 cells the induction of radioresistance and the inhibition of apoptosis and chromosome aberrations were observed in the presence of ISDN at low 2- to 10-μmol/L concentrations before X-irradiation. The addition of c-PTIO and ISDN into the culture medium 6 h before irradiation almost completely suppressed these effects. However, at high concentrations of ISDN (100-500 μmol/L), clear evidence of radiosensitization, enhancement of apoptosis, and chromosome aberrations was detected. However, these phenomena were not observed in mp53 cells at either concentration range with ISDN. Conclusions: These results indicate that low and high concentrations of NO radicals can choreograph inverse radiosensitivity, apoptosis, and chromosome aberrations in human lung cancer cells and that NO radicals can affect the fate of wtp53 cells.

  2. Chromosome numbers in Bromeliaceae

    Directory of Open Access Journals (Sweden)

    Cotias-de-Oliveira Ana Lúcia Pires

    2000-01-01

    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.

  3. Those amazing dinoflagellate chromosomes

    Institute of Scientific and Technical Information of China (English)

    PETER J RIZZO

    2003-01-01

    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.

  4. Enhancing comprehensive inversions using the Swarm constellation

    DEFF Research Database (Denmark)

    Sabaka, T.J.; Olsen, Nils

    2006-01-01

    This paper reports on the findings of a simulation study designed to test various satellite configurations suggested for the upcoming Swarm magnetic mapping mission. The test is to see whether the mission objectives of recovering small-scale core secular variation (SV) and lithospheric magnetic...... to 3. The resolution of the magnetospheric and induced SH time-series from the 3 satellite configuration was sufficient enough to allow the detection of 3-D mantle conductivity structure in a companion study....

  5. Arm-specific dynamics of chromosome evolution in malaria mosquitoes

    Directory of Open Access Journals (Sweden)

    Xia Ai

    2011-04-01

    Full Text Available Abstract Background The malaria mosquito species of subgenus Cellia have rich inversion polymorphisms that correlate with environmental variables. Polymorphic inversions tend to cluster on the chromosomal arms 2R and 2L but not on X, 3R and 3L in Anopheles gambiae and homologous arms in other species. However, it is unknown whether polymorphic inversions on homologous chromosomal arms of distantly related species from subgenus Cellia nonrandomly share similar sets of genes. It is also unclear if the evolutionary breakage of inversion-poor chromosomal arms is under constraints. Results To gain a better understanding of the arm-specific differences in the rates of genome rearrangements, we compared gene orders and established syntenic relationships among Anopheles gambiae, Anopheles funestus, and Anopheles stephensi. We provided evidence that polymorphic inversions on the 2R arms in these three species nonrandomly captured similar sets of genes. This nonrandom distribution of genes was not only a result of preservation of ancestral gene order but also an outcome of extensive reshuffling of gene orders that created new combinations of homologous genes within independently originated polymorphic inversions. The statistical analysis of distribution of conserved gene orders demonstrated that the autosomal arms differ in their tolerance to generating evolutionary breakpoints. The fastest evolving 2R autosomal arm was enriched with gene blocks conserved between only a pair of species. In contrast, all identified syntenic blocks were preserved on the slowly evolving 3R arm of An. gambiae and on the homologous arms of An. funestus and An. stephensi. Conclusions Our results suggest that natural selection favors specific gene combinations within polymorphic inversions when distant species are exposed to similar environmental pressures. This knowledge could be useful for the discovery of genes responsible for an association of inversion polymorphisms with

  6. Arm-specific dynamics of chromosome evolution in malaria mosquitoes

    Science.gov (United States)

    2011-01-01

    Background The malaria mosquito species of subgenus Cellia have rich inversion polymorphisms that correlate with environmental variables. Polymorphic inversions tend to cluster on the chromosomal arms 2R and 2L but not on X, 3R and 3L in Anopheles gambiae and homologous arms in other species. However, it is unknown whether polymorphic inversions on homologous chromosomal arms of distantly related species from subgenus Cellia nonrandomly share similar sets of genes. It is also unclear if the evolutionary breakage of inversion-poor chromosomal arms is under constraints. Results To gain a better understanding of the arm-specific differences in the rates of genome rearrangements, we compared gene orders and established syntenic relationships among Anopheles gambiae, Anopheles funestus, and Anopheles stephensi. We provided evidence that polymorphic inversions on the 2R arms in these three species nonrandomly captured similar sets of genes. This nonrandom distribution of genes was not only a result of preservation of ancestral gene order but also an outcome of extensive reshuffling of gene orders that created new combinations of homologous genes within independently originated polymorphic inversions. The statistical analysis of distribution of conserved gene orders demonstrated that the autosomal arms differ in their tolerance to generating evolutionary breakpoints. The fastest evolving 2R autosomal arm was enriched with gene blocks conserved between only a pair of species. In contrast, all identified syntenic blocks were preserved on the slowly evolving 3R arm of An. gambiae and on the homologous arms of An. funestus and An. stephensi. Conclusions Our results suggest that natural selection favors specific gene combinations within polymorphic inversions when distant species are exposed to similar environmental pressures. This knowledge could be useful for the discovery of genes responsible for an association of inversion polymorphisms with phenotypic variations in

  7. Cytogenetics, cytotaxonomy and chromosomal evolution of Chrysomelinae revisited (Coleoptera, Chrysomelidae) *

    Science.gov (United States)

    Petitpierre, Eduard

    2011-01-01

    Abstract Nearly 260 taxa and chromosomal races of subfamily Chrysomelinae have been chromosomally analyzed showing a wide range of diploid numbers from 2n = 12 to 2n = 50, and four types of male sex-chromosome systems. with the parachute-like ones Xyp and XYp clearly prevailing (79.0%), but with the XO well represented too (19.75%). The modal haploid number for chrysomelines is n = 12 (34.2%) although it is not probably the presumed most plesiomorph for the whole subfamily, because in tribe Timarchini the modal number is n = 10 (53.6%) and in subtribe Chrysomelina n = 17 (65.7%). Some well sampled genera, such as Timarcha, Chrysolina and Cyrtonus, are variable in diploid numbers, whereas others, like Chrysomela, Paropsisterna, Oreina and Leptinotarsa, are conservative and these differences are discussed. The main shifts in the chromosomal evolution of Chrysomelinae seems to be centric fissions and pericentric inversions but other changes as centric fusions are also clearly demonstrated. The biarmed chromosome shape is the prevalent condition, as found in most Coleoptera, although a fair number of species hold a few uniarmed chromosomes at least. A significant negative correlation between the haploid numbers and the asymmetry in size of karyotypes (r = -0.74) has been found from a large sample of 63 checked species of ten different genera. Therefore, the increases in haploid number are generally associated with a higher karyotype symmetry. PMID:22303104

  8. Cytogenetics, cytotaxonomy and chromosomal evolution of Chrysomelinae revisited (Coleoptera, Chrysomelidae).

    Science.gov (United States)

    Petitpierre, Eduard

    2011-01-01

    Nearly 260 taxa and chromosomal races of subfamily Chrysomelinae have been chromosomally analyzed showing a wide range of diploid numbers from 2n = 12 to 2n = 50, and four types of male sex-chromosome systems. with the parachute-like ones Xy(p) and XY(p) clearly prevailing (79.0%), but with the XO well represented too (19.75%). The modal haploid number for chrysomelines is n = 12 (34.2%) although it is not probably the presumed most plesiomorph for the whole subfamily, because in tribe Timarchini the modal number is n = 10 (53.6%) and in subtribe Chrysomelina n = 17 (65.7%). Some well sampled genera, such as Timarcha, Chrysolina and Cyrtonus, are variable in diploid numbers, whereas others, like Chrysomela, Paropsisterna, Oreina and Leptinotarsa, are conservative and these differences are discussed. The main shifts in the chromosomal evolution of Chrysomelinae seems to be centric fissions and pericentric inversions but other changes as centric fusions are also clearly demonstrated. The biarmed chromosome shape is the prevalent condition, as found in most Coleoptera, although a fair number of species hold a few uniarmed chromosomes at least. A significant negative correlation between the haploid numbers and the asymmetry in size of karyotypes (r = -0.74) has been found from a large sample of 63 checked species of ten different genera. Therefore, the increases in haploid number are generally associated with a higher karyotype symmetry. PMID:22303104

  9. Cytogenetics, cytotaxonomy and chromosomal evolution of Chrysomelinae revisited (Coleoptera, Chrysomelidae

    Directory of Open Access Journals (Sweden)

    Eduard Petitpierre

    2011-12-01

    Full Text Available Nearly 260 taxa and chromosomal races of subfamily Chrysomelinae have been chromosomally analyzed showing a wide range of diploid numbers from 2n = 12 to 2n = 50, and four types of male sex-chromosome systems. with the parachute-like ones Xyp and XYp clearly prevailing (79.0%, but with the XO well represented too (19.75%. The modal haploid number for chrysomelines is n = 12 (34.2% although it is not probably the presumed most plesiomorph for the whole subfamily, because in tribe Timarchini the modal number is n = 10 (53.6% and in subtribe Chrysomelina n = 17 (65.7%. Some well sampled genera, such as Timarcha, Chrysolina and Cyrtonus, are variable in diploid numbers, whereas others, like Chrysomela, Paropsisterna, Oreina and Leptinotarsa, are conservative and these differences are discussed. The main shifts in the chromosomal evolution of Chrysomelinae seems to be centric fissions and pericentric inversions but other changes as centric fusions are also clearly demonstrated. The biarmed chromosome shape is the prevalent condition, as found in most Coleoptera, although a fair number of species hold a few uniarmed chromosomes at least. A significant negative correlation between the haploid numbers and the asymmetry in size of karyotypes (r = -0.74 has been found from a large sample of 63 checked species of ten different genera. Therefore, the increases in haploid number are generally associated with a higher karyotype symmetry.

  10. Chromosomal abnormalities and environmental exposures in acute nonlymphocytic leukemia

    International Nuclear Information System (INIS)

    Chromosomal abnormalities are present in bone marrow of approximately 50% of newly diagnostic acute nonlymphatic leukemia (ANLL) patients, but their etiologic significance, if any, is unclear. The frequency of environmental exposures, gathered by questionnaire from patients or relatives, was compared in 127 newly diagnosed ANLL patients with marrow abnormalities (AA) and 109 ANLL patients with cytogenetically normal marrow. These represented 73% of de novo patients treated at M. D. Anderson Hospital between 1976 and 1983. AA patients were more likely than NN patients to: report cytotoxic treatment for prior medical conditions, smoke cigarettes, drink alcoholic beverages, and work at occupations with possible exposure to mutagens. No statistically significant associations between aneuploidy and use of other tobacco, avocational exposure to chemicals or exposure to animals were present. Associations between specific abnormalities and prior cytotoxic therapy (deletion of chromosome 7), smoking (extra chromosome 8, inversion chromosome 16), and occupation at the time of diagnosis (translocation between chromosomes 8 and 21) were noted. No association between occupational exposure to benzene or ionizing radiation and the 6 most common chromosomal abnormalities in ANLL patients were noted, although these agents are known to be leukemogenic. Problems with interpreting the above associations, including the high nonresponse rate, a high proportion of surrogate respondents, and the large number of significance tests that were performed, are discussed. These results are consistent with those from previously reported series, and suggest that tumor-specific markers may be present for some exposures in this disease

  11. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B; Vogel, F; Noer, H; Mikkelsen, M

    1992-01-01

    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 with...

  12. The Y Chromosome

    Science.gov (United States)

    Offner, Susan

    2010-01-01

    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…

  13. Chromosomes, cancer and radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Samouhos, E.

    1983-08-01

    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.

  14. Chromosomes, cancer and radiosensitivity

    International Nuclear Information System (INIS)

    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

  15. Chromosome Morphology in Kniphofia.

    Directory of Open Access Journals (Sweden)

    J. M. J de Wet

    1960-12-01

    Full Text Available A number of species and varieties of the genus  Kniphofia (Liliaceae were studied cytologically. The somatic chromosome number is  2n = 12 in all the species. This is also true in  Notosceptrum natalense Baker.

  16. Large-scale selective sweep among Segregation Distorter chromosomes in African populations of Drosophila melanogaster.

    Science.gov (United States)

    Presgraves, Daven C; Gérard, Pierre R; Cherukuri, Anjuli; Lyttle, Terrence W

    2009-05-01

    Segregation Distorter (SD) is a selfish, coadapted gene complex on chromosome 2 of Drosophila melanogaster that strongly distorts Mendelian transmission; heterozygous SD/SD(+) males sire almost exclusively SD-bearing progeny. Fifty years of genetic, molecular, and theory work have made SD one of the best-characterized meiotic drive systems, but surprisingly the details of its evolutionary origins and population dynamics remain unclear. Earlier analyses suggested that the SD system arose recently in the Mediterranean basin and then spread to a low, stable equilibrium frequency (1-5%) in most natural populations worldwide. In this report, we show, first, that SD chromosomes occur in populations in sub-Saharan Africa, the ancestral range of D. melanogaster, at a similarly low frequency (approximately 2%), providing evidence for the robustness of its equilibrium frequency but raising doubts about the Mediterranean-origins hypothesis. Second, our genetic analyses reveal two kinds of SD chromosomes in Africa: inversion-free SD chromosomes with little or no transmission advantage; and an African-endemic inversion-bearing SD chromosome, SD-Mal, with a perfect transmission advantage. Third, our population genetic analyses show that SD-Mal chromosomes swept across the African continent very recently, causing linkage disequilibrium and an absence of variability over 39% of the length of the second chromosome. Thus, despite a seemingly stable equilibrium frequency, SD chromosomes continue to evolve, to compete with one another, or evade suppressors in the genome. PMID:19412335

  17. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-02-01

    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

  18. Organization of the bacterial chromosome.

    OpenAIRE

    Krawiec, S.; Riley, M

    1990-01-01

    Recent progress in studies on the bacterial chromosome is summarized. Although the greatest amount of information comes from studies on Escherichia coli, reports on studies of many other bacteria are also included. A compilation of the sizes of chromosomal DNAs as determined by pulsed-field electrophoresis is given, as well as a discussion of factors that affect gene dosage, including redundancy of chromosomes on the one hand and inactivation of chromosomes on the other hand. The distinction ...

  19. Karyotype and chromosomal polymorphism of Camptochironomous tentans (diptera, chironomidae)

    International Nuclear Information System (INIS)

    Particular features of chromosomal polymorphism and cytogenetic differentiations have been studied in three natural populations of Camptochironomous tentans affecting the Semipalatinsk test site. For the first time C. tentans population from water-bodies of the Degelen mountain massif was found to contain a unique rarely observed inverse sequence of chromosomal disks (p'ten B85, p'ten D3, p'ten Ck, p'ten FK) and a series of special homozygous (p'ten C1.1; p'ten D2.2) and heterozygous (p'ten B1.5; p'ten D1.2; p'ten D1.3; p'ten F1.3; p'ten F1K) inversions which could be the result of Chironomini adaptation to the radioactive environment. (author)

  20. Speeding up chromosome evolution in Phaseolus: multiple rearrangements associated with a one-step descending dysploidy.

    Science.gov (United States)

    Fonsêca, Artur; Ferraz, Maria Eduarda; Pedrosa-Harand, Andrea

    2016-06-01

    The genus Phaseolus L. has been subject of extensive cytogenetic studies due to its global economic importance. It is considered karyotypically stable, with most of its ca. 75 species having 2n = 22 chromosomes, and only three species (Phaseolus leptostachyus, Phaseolus macvaughii, and Phaseolus micranthus), which form the Leptostachyus clade, having 2n = 20. To test whether a simple chromosomal fusion was the cause of this descending dysploidy, mitotic chromosomes of P. leptostachyus (2n = 20) were comparatively mapped by fluorescent in situ hybridization (FISH) using bacterial artificial chromosomes (BACs) and ribosomal DNA (rDNA) probes. Our results corroborated the conservation of the 5S and 45S rDNA sites on ancestral chromosomes 10 and 6, respectively. The reduction from x = 11 to x = 10 was the result of the insertion of chromosome 10 into the centromeric region of chromosome 11, supporting a nested chromosome fusion (NCF) as the main cause of this dysploidy. Additionally, the terminal region of the long arm of chromosome 6 was translocated to this larger chromosome. Surprisingly, the NCF was accompanied by several additional translocations and inversions previously unknown for the genus, suggesting that the dysploidy may have been associated to a burst of genome reorganization in this otherwise stable, diploid plant genus. PMID:26490170

  1. Sharp spatially constrained inversion

    DEFF Research Database (Denmark)

    Vignoli, Giulio G.; Fiandaca, Gianluca G.; Christiansen, Anders Vest C A.V.C.; Kirkegaard, Casper C.; Auken, Esben

    We present sharp reconstruction of multi-layer models using a spatially constrained inversion with minimum gradient support regularization. In particular, its application to airborne electromagnetic data is discussed. Airborne surveys produce extremely large datasets, traditionally inverted by...... using smoothly varying 1D models. Smoothness is a result of the regularization constraints applied to address the inversion ill-posedness. The standard Occam-type regularized multi-layer inversion produces results where boundaries between layers are smeared. The sharp regularization overcomes this by......, the results are compatible with the data and, at the same time, favor sharp transitions. The focusing strategy can also be used to constrain the 1D solutions laterally, guaranteeing that lateral sharp transitions are retrieved without losing resolution. By means of real and synthetic datasets, sharp...

  2. Chromosomal radiosensitivity in common variable immune deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Vorechovsky, Igor (Karolinska Institute, Center for BioTechnology, Huddinge (Sweden)); Scott, David (Cancer Research Campaign Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital NHS Trust, Manchester (United Kingdom)); Haeney, Mansel R. (Department of Immunology, Hope Hospital, Salford (United Kingdom)); Webster, David A.B. (Clinical Research Centre, Northwick Park Hospital, Harrow, Middlesex (United Kingdom))

    1993-12-01

    From more than 500 tumours reported in human primary immune deficiencies a majority has been observed in two disorders: ataxia telangiectasia (A-T) and common variable immune deficiency (CVID). Since both diseases have an increased risk of lymphomas/leukaemias and gastrointestinal tumours, suggesting a common risk factor, and the cells derived from A-T patients exhibit an increased chromosomal radiosensitivity we analysed chromosome damage in the G[sub 2] lymphocytes of 24 CVID patients and 21 controls after X-irradiation in vitro. There was a significant difference in mean aberration yields between patients and controls. Three CVID patients had yields higher than the mean+3SD of the controls. Six patients but only one control had yields higher than the mean+2SD of controls. The patient with the highest chromosomal radiosensitivity subsequently developed a lymphoma. Repeat assays on the same blood sample, with a 24-h delay in setting up the second culture, showed as much variability for control donors as the variation between control donors although for CVID patients inter-individual variation was greater than the difference between results of repeat samples. There was a weak positive correlation between radiosensitivity and age of donor. Chromosomal radiosensitivity of five patients with X-linked hypogammaglobulinaemia was not different from healthy donors. The mean mitotic index (MI) for unirradiated samples from CVID patients was significantly lower than for controls and there was an inverse relationship between MI and aberration yields in the patients, but not in controls. We suggest that the defect in CVID patients that reduces response to mitogenic stimuli may have mechanism(s) in common with those involved in cellular repair processes.

  3. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

    International Nuclear Information System (INIS)

    A pericentric inversion of human X chromosome and a recombinant X chromosome [rec(X)] derived from crossing-over within the inversion was identified in a family. The rec(X) had a duplication of the segment Xq26.3 → Xqter and a deletion of Xp22.3 → Xpter and was interpreted to be Xqter → Xq26.3::Xp22.3 → Xqter. To characterize the rec(X) chromosome, dosage blots were done on genomic DNA from carriers of this rearranged X chromosome using a number of X chromosome probes. Results showed that anonymous sequences from the distal end of the long arm to which probes 4D8, Hx120A, DX13, and St14 bind as well as the locus for glucose-6-phosphate dehydrogenase (G6PD) wee duplicated on the rec(X). Mouse-human cell hybrids were constructed that retained the rec(X) in the active or inactive state. Analyses of these hybrid clones for markers from the distal short arm of the X chromosome showed that the rec(X) retained the loci for steroid sulfatase (STS) and the cell surface antigen 12E7 (MIC2); but not the pseudoautosomal sequence 113D. These molecular studies confirm that the rec(X) is a duplication-deficiency chromosome as expected. In the inactive state in cell hybrids, STS and MIC2 (which usually escape X chromosome inactivation) were expressed from the rec(X), whereas G6PD was not. Therefore, in the rec(X) X chromosome inactivation has spread through STS and MIC2 leaving these loci unaffected and has inactivated G6PD in the absence of an inactivation center in the q26.3 → qter region of the human X chromosome. The mechanism of spreading of inactivation appears to operate in a sequence-specific fashion. Alternatively, STS and MIC2 may have undergone inactivation initially but could not be maintained in an inactive state

  4. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

    Energy Technology Data Exchange (ETDEWEB)

    Mohandas, T.; Geller, R.L.; Yen, P.H.; Rosendorff, J.; Bernstein, R.; Yoshida, A.; Shapiro, L.J.

    1987-07-01

    A pericentric inversion of human X chromosome and a recombinant X chromosome (rec(X)) derived from crossing-over within the inversion was identified in a family. The rec(X) had a duplication of the segment Xq26.3 ..-->.. Xqter and a deletion of Xp22.3 ..-->.. Xpter and was interpreted to be Xqter ..-->.. Xq26.3::Xp22.3 ..-->.. Xqter. To characterize the rec(X) chromosome, dosage blots were done on genomic DNA from carriers of this rearranged X chromosome using a number of X chromosome probes. Results showed that anonymous sequences from the distal end of the long arm to which probes 4D8, Hx120A, DX13, and St14 bind as well as the locus for glucose-6-phosphate dehydrogenase (G6PD) wee duplicated on the rec(X). Mouse-human cell hybrids were constructed that retained the rec(X) in the active or inactive state. Analyses of these hybrid clones for markers from the distal short arm of the X chromosome showed that the rec(X) retained the loci for steroid sulfatase (STS) and the cell surface antigen 12E7 (MIC2); but not the pseudoautosomal sequence 113D. These molecular studies confirm that the rec(X) is a duplication-deficiency chromosome as expected. In the inactive state in cell hybrids, STS and MIC2 (which usually escape X chromosome inactivation) were expressed from the rec(X), whereas G6PD was not. Therefore, in the rec(X) X chromosome inactivation has spread through STS and MIC2 leaving these loci unaffected and has inactivated G6PD in the absence of an inactivation center in the q26.3 ..-->.. qter region of the human X chromosome. The mechanism of spreading of inactivation appears to operate in a sequence-specific fashion. Alternatively, STS and MIC2 may have undergone inactivation initially but could not be maintained in an inactive state.

  5. Rapid method for epidemiological evaluation of gram-positive cocci by field inversion gel electrophoresis.

    OpenAIRE

    Goering, R V; Winters, M A

    1992-01-01

    We report a rapid method for the isolation of intact chromosomal DNA from gram-positive cocci that is suitable for in situ restriction endonuclease digestion in agarose blocks. When combined with a rapid field inversion gel electrophoresis protocol, this approach allows the preparation and electrophoretic analysis of chromosomal restriction fragments produced by rare-cutting enzymes in a total time period of 2 days from start to finish. The utility of the method is demonstrated in the epidemi...

  6. Chromosome aberrations in A-bomb survivors, Hiroshima and Nagasaki

    International Nuclear Information System (INIS)

    Radiation-induced chromosome rearrangements are known to have persisted in the peripheral blood lymphocytes of atomic bomb survivors in Hiroshima and Nagasaki. A dose-response relationship for chromosome aberration frequencies has been observed in both cities. A preliminary analysis of cytogenetic data indicates that the inter-city difference observed with the T65D dose estimate becomes less pronounced with the new DS86 dosimetry system. The regression coefficient of the dose-response curves is nevertheless higher in Hiroshima than in Nagasaki. The majority of chromosome aberrations detectable to date are of the stable type, such as translocations and inversions, and they have formed the dose-response relationship. (author)

  7. Contrasting patterns of karyotype and sex chromosome evolution in Lepidoptera

    OpenAIRE

    Šíchová, Jindra

    2016-01-01

    It is known that chromosomal rearrangements play an important role in speciation by limiting gene flow within and between species. Furthermore, this effect may be enhanced by involvement of sex chromosomes that are known to undergo fast evolution compared to autosomes and play a special role in speciation due to their engagement in postzygotic reproductive isolation. The work presented in this study uses various molecular-genetic and cytogenetic techniques to describe karyotype and sex chromo...

  8. [Chromosomal organization of the genomes of small-chromosome plants].

    Science.gov (United States)

    Muravenko, O V; Zelenin, A V

    2009-11-01

    An effective approach to study the chromosome organization in genomes of plants with small chromosomes and/or with low-informative C-banding patterns was developed in the course of investigation of the karyotypes of cotton plant, camomile, flax, and pea. To increase the resolving power of chromosome analysis, methods were worked out for revealing early replication patterns on chromosomes and for artificial impairment of mitotic chromosome condensation with the use of a DNA intercalator, 9-aminoacridine (9-AMA). To estimate polymorphism of the patterns of C-banding of small chromosomes on preparations obtained with the use of 9-AMA, it is necessary to choose a length interval that must not exceed three average sizes of metaphase chromosomes without the intercalator. The use of 9-AMA increases the resolution of differential C- and OR-banding and the precision of physical chromosome mapping by the FISH method. Of particular importance in studying small chromosomes is optimization of the computer-aided methods used to obtain and process chromosome images. The complex approach developed for analysis of the chromosome organization in plant genomes was used to study the karyotypes of 24 species of the genus Linum L. It permitted their chromosomes to be identified for the first time, and, in addition, B chromosomes were discovered and studied in the karyotypes of the species of the section Syllinum. By similarity of the karyotypes, the studied flax species were distributed in eight groups in agreement with the clusterization of these species according to the results of RAPD analysis performed in parallel. Systematic positions and phylogenetic relationships of the studied flax species were verified. Out results can serve as an important argument in favour of the proposal to develop a special program for sequencing the genome of cultivated flax (L. usitatissimum L.), which is a major representative of small-chromosome species. PMID:20058798

  9. Sequence features contributing to chromosomal rearrangements in Neisseria gonorrhoeae.

    Directory of Open Access Journals (Sweden)

    Russell Spencer-Smith

    Full Text Available Through whole genome sequence alignments, breakpoints in chromosomal synteny can be identified and the sequence features associated with these determined. Alignments of the genome sequences of Neisseria gonorrhoeae strain FA1090, N.gonorrhoeae strain NCCP11945, and N. gonorrhoeae strain TCDC-NG08107 reveal chromosomal rearrangements that have occurred. Based on these alignments and dot plot pair-wise comparisons, the overall chromosomal arrangement of strain NCCP11945 and TCDC-NG08107 are very similar, with no large inversions or translocations. The insertion of the Gonococcal Genetic Island in strain NCCP11945 is the most prominent distinguishing feature differentiating these strains. When strain NCCP11945 is compared to strain FA1090, however, 14 breakpoints in chromosomal synteny are identified between these gonococcal strains. The majority of these, 11 of 14, are associated with a prophage, IS elements, or IS-like repeat enclosed elements which appear to have played a role in the rearrangements observed. Additional rearrangements of small regions of the genome are associated with pilin genes. Evidence presented here suggests that the rearrangements of blocks of sequence are mediated by activation of prophage and associated IS elements and reintegration elsewhere in the genome or by homologous recombination between IS-like elements that have generated inversions.

  10. STRUCTURAL CHROMOSOME DIVERSIFICATION IN TWO SOUTHERN ATLANTIC MARINE CATFISHES (ARIIDAE

    Directory of Open Access Journals (Sweden)

    Washington Candeia de Araújo

    2016-03-01

    Full Text Available Siluriforms is one of the most diverse groups of the Neotropical ichthyofauna. About 1,750 species occurs exclusively in the Americas. In view the high number of species, geographical widespread and morphological similarities, there are still many questions about the relationship among some families and species. One of the two families in this Order that inhabit the marine environment, Ariidae shows numerous taxonomic uncertainties. Cytogenetic analysis in Atlantic species are still incipient. To evaluate the karyotype diversity and infer the evolutionary history of this clade are presented here chromosomal data of species Cathorops spixii and Sciades sp. distributed in the northeastern Brazil coastline. Both species have the same diploid number 2n=56, but with marked differences between chromosomal formulas. In fact, C. spixii shows 12m+16sm+24st+4a (NF=108 and Sciades sp. presents 14m+10sm+22st+10a (NF=102. Both species have multiple NORs (nucleolar organizer regions, localized in the terminal portion of two chromosome pairs. The karyotypic patterns of these and other species of Ariidae indicates that pericentric inversion represent that the main mechanism involved in chromosomal diversity of the family. Taxonomic uncertainty in some taxa and the occurrence of interpopulational karyotypic variations in species Ariidae, raise detailed analyzes using the mapping of repetitive sequences in order to identify possible cryptic species in this family along the Brazilian coast. Keywords: Cathorops spixii, Sciades sp., pericentric inversions, fish cytogenetics, marine catfishes.

  11. An advanced joint inversion system for CO2 storage modeling with large date sets for characterization and real-time monitoring-enhancing storage performance and reducing failure risks under uncertainties

    Energy Technology Data Exchange (ETDEWEB)

    Kitanidis, Peter [Stanford Univ., CA (United States)

    2016-04-30

    As large-scale, commercial storage projects become operational, the problem of utilizing information from diverse sources becomes more critically important. In this project, we developed, tested, and applied an advanced joint data inversion system for CO2 storage modeling with large data sets for use in site characterization and real-time monitoring. Emphasis was on the development of advanced and efficient computational algorithms for joint inversion of hydro-geophysical data, coupled with state-of-the-art forward process simulations. The developed system consists of (1) inversion tools using characterization data, such as 3D seismic survey (amplitude images), borehole log and core data, as well as hydraulic, tracer and thermal tests before CO2 injection, (2) joint inversion tools for updating the geologic model with the distribution of rock properties, thus reducing uncertainty, using hydro-geophysical monitoring data, and (3) highly efficient algorithms for directly solving the dense or sparse linear algebra systems derived from the joint inversion. The system combines methods from stochastic analysis, fast linear algebra, and high performance computing. The developed joint inversion tools have been tested through synthetic CO2 storage examples.

  12. Patterns of Chromosomal Evolution in Sigmodon, Evidence from Whole Chromosome Paints

    Science.gov (United States)

    Swier, V.J.; Bradley, R.D.; Rens, W.; Elder, F.F.B.; Baker, R.J.

    2009-01-01

    Of the superfamily Muroidea (31 genera, 1578 species), the Sigmodontinae (74 genera, 377 species) is the second largest subfamily in number of species and represents a significant radiation of rodent biodiversity. Only 2 of the 74 genera are found in both North and South America (Sigmodon and Oryzomys) and the remainder are exclusively from South America. In recent molecular studies, the genus Sigmodon (Cricetidae, Sigmodontinae) has been considered sister to many other South American Sigmodontines [Steppan et al., 2004]. We examine the chromosomal evolution of 9 species of Sigmodon utilizing chromosomal paints isolated from S. hispidus, proposed to be similar to the ancestral karyotype [Elder, 1980]. Utilizing a phylogenetic hypothesis of a molecular phylogeny of Sigmodon [Henson and Bradley, 2009], we mapped shared chromosomal rearrangements of taxa on a molecular tree to estimate the evolutionary position of each rearrangement. For several species (S. hirsutus, S. leucotis, S. ochrognathus, S. peruanus, and S. toltecus), the karyotype accumulated few or no changes, but in three species (S. arizonae, S. fulviventer, and S. mascotensis) numerous karyotype rearrangements were observed. These rearrangements involved heterochromatic additions, centric fusions, tandem fusions, pericentric inversions, as well as the addition of interstitial DNA not identified by chromosome paints or C-banding. The hypothesis that the ancestral karyotype for this complex had a diploid number of 52, a fundamental number of 52, and a G-band pattern of which most, if not all are similar to that present in modern day S. hispidus fails to be rejected. This hypothesis remains viable as an explanation of chromosomal evolution in Sigmodontine rodents. PMID:19617697

  13. Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

    DEFF Research Database (Denmark)

    Skovgaard, Ole; Bak, Mads; Løbner-Olesen, Anders;

    2011-01-01

    Whole-genome sequencing (WGS) with new short-read sequencing technologies has recently been applied for genome-wide identification of mutations. Genomic rearrangements have, however, often remained undetected by WGS, and additional analyses are required for their detection. Here, we have applied a...... combination of WGS and genome copy number analysis, for the identification of mutations that suppress the growth deficiency imposed by excessive initiations from the Escherichia coli origin of replication, oriC. The E. coli chromosome, like the majority of bacterial chromosomes, is circular, and DNA...... inversion, and one was a large chromosomal duplication. The latter two mutations could not be detected solely by WGS, validating the present approach for identification of genomic rearrangements. We further suggest the use of copy number analysis in combination with WGS for validation of newly assembled...

  14. Limits to Nonlinear Inversion

    DEFF Research Database (Denmark)

    Mosegaard, Klaus

    For non-linear inverse problems, the mathematical structure of the mapping from model parameters to data is usually unknown or partly unknown. Absence of information about the mathematical structure of this function prevents us from presenting an analytical solution, so our solution depends on ou...

  15. Calculation of the inverse data space via sparse inversion

    KAUST Repository

    Saragiotis, Christos

    2011-01-01

    The inverse data space provides a natural separation of primaries and surface-related multiples, as the surface multiples map onto the area around the origin while the primaries map elsewhere. However, the calculation of the inverse data is far from trivial as theory requires infinite time and offset recording. Furthermore regularization issues arise during inversion. We perform the inversion by minimizing the least-squares norm of the misfit function by constraining the $ell_1$ norm of the solution, being the inverse data space. In this way a sparse inversion approach is obtained. We show results on field data with an application to surface multiple removal.

  16. Detection and possible role of two large nondivisible zones on the Escherichia coli chromosome.

    Science.gov (United States)

    Rebollo, J E; François, V; Louarn, J M

    1988-01-01

    Inversion of many predetermined segments of the Escherichia coli chromosome was attempted by using a system for in vivo selection of genomic rearrangements. Two types of constraints on these inversions were observed: (i) a sensitivity to rich medium when the distance between oriC and the 86- to 91-min region (which carries loci essential for transcription and translation) is increased; (ii) a poor viability or inviability of inversions having at least one endpoint in the one-third of the chromosome around replication terminators (with an exception for some inversions ending between these terminators). Although the first constraint is simply explained by a decreased dosage of the region involved, the second one may result from disruption of two long-range chromosomal organizations. The nondivisible zones thus disclosed coincide remarkably well with the two zones that we have previously described, which are polarized with respect to their replication. It is proposed that the two phenomena result from a sequence-dependent and polarized organization of the terminal region of the chromosome, which defines chromosome replication arms and may participate in nucleoid organization. Images PMID:3059345

  17. Bayesian seismic AVO inversion

    Energy Technology Data Exchange (ETDEWEB)

    Buland, Arild

    2002-07-01

    A new linearized AVO inversion technique is developed in a Bayesian framework. The objective is to obtain posterior distributions for P-wave velocity, S-wave velocity and density. Distributions for other elastic parameters can also be assessed, for example acoustic impedance, shear impedance and P-wave to S-wave velocity ratio. The inversion algorithm is based on the convolutional model and a linearized weak contrast approximation of the Zoeppritz equation. The solution is represented by a Gaussian posterior distribution with explicit expressions for the posterior expectation and covariance, hence exact prediction intervals for the inverted parameters can be computed under the specified model. The explicit analytical form of the posterior distribution provides a computationally fast inversion method. Tests on synthetic data show that all inverted parameters were almost perfectly retrieved when the noise approached zero. With realistic noise levels, acoustic impedance was the best determined parameter, while the inversion provided practically no information about the density. The inversion algorithm has also been tested on a real 3-D dataset from the Sleipner Field. The results show good agreement with well logs but the uncertainty is high. The stochastic model includes uncertainties of both the elastic parameters, the wavelet and the seismic and well log data. The posterior distribution is explored by Markov chain Monte Carlo simulation using the Gibbs sampler algorithm. The inversion algorithm has been tested on a seismic line from the Heidrun Field with two wells located on the line. The uncertainty of the estimated wavelet is low. In the Heidrun examples the effect of including uncertainty of the wavelet and the noise level was marginal with respect to the AVO inversion results. We have developed a 3-D linearized AVO inversion method with spatially coupled model parameters where the objective is to obtain posterior distributions for P-wave velocity, S

  18. 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))

    1993-01-04

    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.

  19. A new derived and highly polymorphic chromosomal race of Liolaemus monticola (Iguanidae) from the 'Norte Chico' of Chile.

    Science.gov (United States)

    Lamborot, M

    1998-06-01

    A multiple Robertsonian fission chromosomal race of the Liolaemus monticola complex in Chile is described and is shown to be the most derived and the most complex among the Liolaemus examined thus far. The 29 karyotyped lizards analysed from the locality of Mina Hierro Viejo, Petorca, Provincia de Valparaiso, Chile, exhibited a diploid chromosomal number ranging from 42 to 44, and several polymorphisms. The polymorphisms included: a pair 1 fission; a pair 2 fission plus a pericentric inversion in one of the fission products, which moved the NOR and satellite from the tip of the long arm of the metacentric 2 to the short arm of the fission product; a fission in pair 3; a polymorphism for an enlarged chromosome pair 6; and a polymorphism for a pericentric inversion in pair 7. This population is fixed for a fission of chromosome pair 4. A total of 76% of the lizards analysed were polymorphic for one or more pairs of chromosomes. We have compared these data with other Liolaemus monticola chromosomal races and calculated the Hardy-Weinberg ratios for the polymorphic chromosome pairs in this Multiple-Fission race. Karyotypic differences between the Northern (2n = 38-40) and the Multiple-Fission (2n = 42-44) races were attributed mainly to Robertsonian fissions, an enlarged chromosome and pericentric inversions involving the macrochromosomes and one microchromosome pair. PMID:9688513

  20. Chromosomal abnormalities in mentally retarded children in the Konya region--Turkey.

    Science.gov (United States)

    Cora, T; Demirel, S; Acar, A

    2000-01-01

    Etiology of mental retardation is diverse. 120 Students from 11 special training, education, and rehabilitation subclasses were investigated cytogenetically for determining the contribution of chromosomal abnormalities to mild mental retardation. 23 of the 120 children (19%) had chromosomal abnormalities: thirteen cases a classical trisomy 21 (the male:female ratio was 9:4), three a balanced autosomal reciprocal translocation, one a pericentric inversion of chromosome 9, and six fragile-X syndrome (The male:female ratio was 5:1). PMID:10756429

  1. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

    Directory of Open Access Journals (Sweden)

    Frenny J Sheth

    2013-01-01

    Full Text Available Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. Materials and Methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary. Results: Chromosomal rearrangements were found in 170 individuals (3.5%. Translocations were seen in 72 (42.35% cases. Of these, reciprocal translocations constituted 42 (24.70% cases while Robertsonian translocations were detected in 30 (17.64% cases. 7 (4.11% cases were mosaic, 8 (4.70% had small supernumerary marker chromosomes and 1 (0.6% had an interstitial microdeletion. Nearly, 78 (1.61% cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70% and chromosome 9 pericentromeric variants (32.05% were predominantly involved. Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

  2. Intersections, ideals, and inversion

    Energy Technology Data Exchange (ETDEWEB)

    Vasco, D.W.

    1998-10-01

    Techniques from computational algebra provide a framework for treating large classes of inverse problems. In particular, the discretization of many types of integral equations and of partial differential equations with undetermined coefficients lead to systems of polynomial equations. The structure of the solution set of such equations may be examined using algebraic techniques.. For example, the existence and dimensionality of the solution set may be determined. Furthermore, it is possible to bound the total number of solutions. The approach is illustrated by a numerical application to the inverse problem associated with the Helmholtz equation. The algebraic methods are used in the inversion of a set of transverse electric (TE) mode magnetotelluric data from Antarctica. The existence of solutions is demonstrated and the number of solutions is found to be finite, bounded from above at 50. The best fitting structure is dominantly onedimensional with a low crustal resistivity of about 2 ohm-m. Such a low value is compatible with studies suggesting lower surface wave velocities than found in typical stable cratons.

  3. Intersections, ideals, and inversion

    International Nuclear Information System (INIS)

    Techniques from computational algebra provide a framework for treating large classes of inverse problems. In particular, the discretization of many types of integral equations and of partial differential equations with undetermined coefficients lead to systems of polynomial equations. The structure of the solution set of such equations may be examined using algebraic techniques.. For example, the existence and dimensionality of the solution set may be determined. Furthermore, it is possible to bound the total number of solutions. The approach is illustrated by a numerical application to the inverse problem associated with the Helmholtz equation. The algebraic methods are used in the inversion of a set of transverse electric (TE) mode magnetotelluric data from Antarctica. The existence of solutions is demonstrated and the number of solutions is found to be finite, bounded from above at 50. The best fitting structure is dominantly one dimensional with a low crustal resistivity of about 2 ohm-m. Such a low value is compatible with studies suggesting lower surface wave velocities than found in typical stable cratons

  4. Molecular fundamentals of chromosomal mutagenesis

    International Nuclear Information System (INIS)

    Precise quantitative correlation between the yield of chromosome structure damages and the yield of DNA damages is shown when comparing data on molecular and cytogenetic investigations carried out in cultural Mammalia cells. As the chromosome structure damage is to be connected with the damage of its carcass structure, then it is natural that DNA damage in loop regions is not to affect considerably the structure, while DNA damage lying on the loop base and connected with the chromosome carcass is to play a determining role in chromosomal mutagenesis. This DNA constitutes 1-2% from the total quantity of nuclear DNA. If one accepts that damages of these regions of DNA are ''hot'' points of chromosomal mutagenesis, then it becomes clear why 1-2% of preparation damages in a cell are realized in chromosome structural damages

  5. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

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

    2014-01-01

    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...... 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...... impedance spectroscopy was selected as the sensing method on a microfabricated chip with array of 12 electrode sets. Two independent chips (Chip1 and Chip2) were used for targeting the chromosomal fragments involved in the translocation. Each chip was differentially functionalized with DNA probes matching...

  6. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin

    2010-12-01

    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.

  7. Reference-assisted chromosome assembly

    OpenAIRE

    Kim, Jaebum; Larkin, Denis M; Cai, Qingle; Asan,; Zhang, Yongfen; Ge, Ri-Li; Auvil, Loretta; Capitanu, Boris; Zhang, Guojie; Lewin, Harris A.; Ma, Jian

    2013-01-01

    One of the most difficult problems in modern genomics is the assembly of full-length chromosomes using next generation sequencing (NGS) data. To address this problem, we developed “reference-assisted chromosome assembly” (RACA), an algorithm to reliably order and orient sequence scaffolds generated by NGS and assemblers into longer chromosomal fragments using comparative genome information and paired-end reads. Evaluation of results using simulated and real genome assemblies indicates that ou...

  8. Catastrophic chromosomal restructuring during genome elimination in plants.

    Science.gov (United States)

    Tan, Ek Han; Henry, Isabelle M; Ravi, Maruthachalam; Bradnam, Keith R; Mandakova, Terezie; Marimuthu, Mohan Pa; Korf, Ian; Lysak, Martin A; Comai, Luca; Chan, Simon Wl

    2015-01-01

    Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered. Here, we describe extreme chromosomal restructuring during genome elimination, a process resulting from hybridization of Arabidopsis plants expressing different centromere histones H3. Shattered chromosomes are formed from the genome of the haploid inducer, consistent with genomic catastrophes affecting a single, laggard chromosome compartmentalized within a micronucleus. Analysis of breakpoint junctions implicates breaks followed by repair through non-homologous end joining (NHEJ) or stalled fork repair. Furthermore, mutation of required NHEJ factor DNA Ligase 4 results in enhanced haploid recovery. Lastly, heritability and stability of a rearranged chromosome suggest a potential for enduring genomic novelty. These findings provide a tractable, natural system towards investigating the causes and mechanisms of complex genomic rearrangements similar to those associated with several human disorders. PMID:25977984

  9. Genomic Evidence for Adaptive Inversion Clines in Drosophila melanogaster.

    Science.gov (United States)

    Kapun, Martin; Fabian, Daniel K; Goudet, Jérôme; Flatt, Thomas

    2016-05-01

    Clines in chromosomal inversion polymorphisms-presumably driven by climatic gradients-are common but there is surprisingly little evidence for selection acting on them. Here we address this long-standing issue in Drosophila melanogaster by using diagnostic single nucleotide polymorphism (SNP) markers to estimate inversion frequencies from 28 whole-genome Pool-seq samples collected from 10 populations along the North American east coast. Inversions In(3L)P, In(3R)Mo, and In(3R)Payne showed clear latitudinal clines, and for In(2L)t, In(2R)NS, and In(3R)Payne the steepness of the clinal slopes changed between summer and fall. Consistent with an effect of seasonality on inversion frequencies, we detected small but stable seasonal fluctuations of In(2R)NS and In(3R)Payne in a temperate Pennsylvanian population over 4 years. In support of spatially varying selection, we observed that the cline in In(3R)Payne has remained stable for >40 years and that the frequencies of In(2L)t and In(3R)Payne are strongly correlated with climatic factors that vary latitudinally, independent of population structure. To test whether these patterns are adaptive, we compared the amount of genetic differentiation of inversions versus neutral SNPs and found that the clines in In(2L)t and In(3R)Payne are maintained nonneutrally and independent of admixture. We also identified numerous clinal inversion-associated SNPs, many of which exhibit parallel differentiation along the Australian cline and reside in genes known to affect fitness-related traits. Together, our results provide strong evidence that inversion clines are maintained by spatially-and perhaps also temporally-varying selection. We interpret our data in light of current hypotheses about how inversions are established and maintained. PMID:26796550

  10. Amifostine Protection Against Mitomycin-induced Chromosomal Breakage in Fanconi Anaemia Lymphocytes

    OpenAIRE

    Lopes, Miriam T. P.; Salas, Carlos E.; Fernanda S. G. Kehdy; Camelo, Ricardo M.

    2008-01-01

    Fanconi anaemia (FA) is a rare genetic chromosomal instability syndrome caused by impairment of DNA repair and reactive oxygen species (ROS) imbalance. This disease is also related to bone marrow failure and cancer. Treatment of these complications with radiation and alkylating agents may enhance chromosomal breakage. We have evaluated the effect of amifostine (AMF) on basal and mitomycin C (MMC)-induced chromosomal breakage in FA blood cells using the micronucleus assay. The basal micronucle...

  11. Early and Late Chromosome Damages in Human Lymphocytes Induced by Gamma Rays and Fe Ions

    Science.gov (United States)

    Sunagawa, Mayumi; Zhang, Ye; Yeshitla, Samrawit; Kadhim, Munira; Wilson, Bobby; Wu, Honglu

    2014-01-01

    Chromosomal translocations and inversions are considered stable, and cells containing these types of chromosome aberrations can survive multiple cell divisions. An efficient method to detect an inversion is multi-color banding fluorescent in situ hybridization (mBAND) which allows identification of both inter- and intrachromosome aberrations simultaneously. Post irradiation, chromosome aberrations may also arise after multiple cell divisions as a result of genomic instability. To investigate the stable or late-arising chromosome aberrations induced after radiation exposure, we exposed human lymphocytes to gamma rays and Fe ions ex vivo, and cultured the cells for multiple generations. Chromosome aberrations were analyzed in cells collected at first mitosis and at several time intervals during the culture period post irradiation. With gamma irradiation, about half of the damages observed at first mitosis remained after 7 day- and 14 day- culture, suggesting the transmissibility of damages to the surviving progeny. Detailed analysis of chromosome break ends participating in exchanges revealed a greater fraction of break ends involved in intrachromosome aberrations in the 7- and 14-day samples in comparison to the fraction at first mitosis. In particular, simple inversions were found at 7 and 14 days, but not at the first mitosis, suggesting that some of the aberrations might be formed days post irradiation. In contrast, at the doses that produced similar frequencies of gamma-induced chromosome aberrations as observed at first mitosis, a significantly lower yield of aberrations remained at the same population doublings after Fe ion exposure. At these equitoxic doses, more complex type aberrations were observed for Fe ions, indicating that Fe ion-induced initial chromosome damages are more severe and may lead to cell death. Comparison between low and high doses of Fe ion irradiation in the induction of late damages will also be discussed.

  12. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    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…

  13. X-chromosome workshop.

    Science.gov (United States)

    Paterson, A D

    1998-01-01

    Researchers presented results of ongoing research to the X-chromosome workshop of the Fifth World Congress on Psychiatric Genetics, covering a wide range of disorders: X-linked infantile spasms; a complex phenotype associated with deletions of Xp11; male homosexuality; degree of handedness; bipolar affective disorder; schizophrenia; childhood onset psychosis; and autism. This report summarizes the presentations, as well as reviewing previous studies. The focus of this report is on linkage findings for schizophrenia and bipolar disorder from a number of groups. For schizophrenia, low positive lod scores were obtained for markers DXS991 and DXS993 from two studies, although the sharing of alleles was greatest from brother-brother pairs in one study, and sister-sister in the other. Data from the Irish schizophrenia study was also submitted, with no strong evidence for linkage on the X chromosome. For bipolar disease, following the report of a Finnish family linked to Xq24-q27, the Columbia group reported some positive results for this region from 57 families, however, another group found no evidence for linkage to this region. Of interest, is the clustering of low positive linkage results that point to regions for possible further study. PMID:9686435

  14. Chromosome analysis and sorting

    Czech Academy of Sciences Publication Activity Database

    Doležel, Jaroslav; Kubaláková, Marie; Suchánková, Pavla; Kovářová, Pavlína; Bartoš, Jan; Šimková, Hana

    Weinheim : Wiley-VCH, 2007 - (Doležel, J.; Greilhuber, J.; Suda, J.), s. 373-403 ISBN 978-3-527-31487-4 R&D Projects: GA ČR GA521/04/0607; GA ČR GP521/05/P257; GA ČR GD521/05/H013; GA MŠk(CZ) LC06004 Grant ostatní: Mendelova zemědělská a lesnická univerzita v Brně / Agronomická fakulta(CZ) ME 844 Institutional research plan: CEZ:AV0Z5038910 Source of funding: V - iné verejné zdroje ; V - iné verejné zdroje ; V - iné verejné zdroje ; V - iné verejné zdroje ; V - iné verejné zdroje Keywords : Plant flow cytometry * chromosome sorting * flow cytogenetics Subject RIV: EB - Genetics ; Molecular Biology http://books. google .com/books?id=3cwakORieqUC&pg=PA373&lpg=PA373&dq=Chromosome+analysis+and+sorting&source=web&ots=8IyvJlBQyq&sig=_NlXyQQgBCwpj1pTC9YITvvVZqU

  15. Inverse Degree and Connectivity

    Institute of Scientific and Technical Information of China (English)

    MA Xiao-ling; TIAN Ying-zhi

    2013-01-01

    Let G be a connected graph with vertex set V(G),order n =丨V(G)丨,minimum degree δ(G) and connectivity κ(G).The graph G is called maximally connected if κ(G) =δ(G).Define the inverse degree of G with no isolated vertices as R(G) =Σv∈V(G)1/d(v),where d(v) denotes the degree of the vertex v.We show that G is maximally connected if R(G) < 1 + 2/δ + n-2δ+1/(n-1)(n-3).

  16. of Generalized Inverse

    Directory of Open Access Journals (Sweden)

    Jingyun Yang

    2011-01-01

    Full Text Available Cohen's kappa and weighted kappa statistics are the conventional methods used frequently in measuring agreement for categorical responses. In this paper, through the perspective of a generalized inverse, we propose an alternative general framework of the fixed-effects modeling of Cohen's weighted kappa, proposed by Yang and Chinchilli (2011. Properties of the proposed method are provided. Small sample performance is investigated through bootstrap simulation studies, which demonstrate good performance of the proposed method. When there are only two categories, the proposed method reduces to Cohen's kappa.

  17. Limits to Nonlinear Inversion

    DEFF Research Database (Denmark)

    Mosegaard, Klaus

    2012-01-01

    For non-linear inverse problems, the mathematical structure of the mapping from model parameters to data is usually unknown or partly unknown. Absence of information about the mathematical structure of this function prevents us from presenting an analytical solution, so our solution depends on our...... ability to produce efficient search algorithms. Such algorithms may be completely problem-independent (which is the case for the so-called 'meta-heuristics' or 'blind-search' algorithms), or they may be designed with the structure of the concrete problem in mind. We show that pure meta-heuristics are...

  18. Multiscale full waveform inversion

    Science.gov (United States)

    Fichtner, Andreas; Trampert, Jeannot; Cupillard, Paul; Saygin, Erdinc; Taymaz, Tuncay; Capdeville, Yann; Villaseñor, Antonio

    2013-07-01

    We develop and apply a full waveform inversion method that incorporates seismic data on a wide range of spatio-temporal scales, thereby constraining the details of both crustal and upper-mantle structure. This is intended to further our understanding of crust-mantle interactions that shape the nature of plate tectonics, and to be a step towards improved tomographic models of strongly scale-dependent earth properties, such as attenuation and anisotropy. The inversion for detailed regional earth structure consistently embedded within a large-scale model requires locally refined numerical meshes that allow us to (1) model regional wave propagation at high frequencies, and (2) capture the inferred fine-scale heterogeneities. The smallest local grid spacing sets the upper bound of the largest possible time step used to iteratively advance the seismic wave field. This limitation leads to extreme computational costs in the presence of fine-scale structure, and it inhibits the construction of full waveform tomographic models that describe earth structure on multiple scales. To reduce computational requirements to a feasible level, we design a multigrid approach based on the decomposition of a multiscale earth model with widely varying grid spacings into a family of single-scale models where the grid spacing is approximately uniform. Each of the single-scale models contains a tractable number of grid points, which ensures computational efficiency. The multi-to-single-scale decomposition is the foundation of iterative, gradient-based optimization schemes that simultaneously and consistently invert data on all scales for one multi-scale model. We demonstrate the applicability of our method in a full waveform inversion for Eurasia, with a special focus on Anatolia where coverage is particularly dense. Continental-scale structure is constrained by complete seismic waveforms in the 30-200 s period range. In addition to the well-known structural elements of the Eurasian mantle

  19. Human Xq28 Inversion Polymorphism: From Sex Linkage to Genomics--A Genetic Mother Lode

    Science.gov (United States)

    Kirby, Cait S.; Kolber, Natalie; Salih Almohaidi, Asmaa M.; Bierwert, Lou Ann; Saunders, Lori; Williams, Steven; Merritt, Robert

    2016-01-01

    An inversion polymorphism of the filamin and emerin genes at the tip of the long arm of the human X-chromosome serves as the basis of an investigative laboratory in which students learn something new about their own genomes. Long, nearly identical inverted repeats flanking the filamin and emerin genes illustrate how repetitive elements can lead to…

  20. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: christian.haering@embl.de [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: rolf.jessberger@tu-dresden.de [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)

    2012-07-15

    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.

  1. Causes of oncogenic chromosomal translocation

    OpenAIRE

    Aplan, Peter D.

    2005-01-01

    Non-random chromosomal translocations are frequently associated with a variety of cancers, especially hematologic malignancies and childhood sarcomas In addition to their diagnostic utility, chromosomal translocations are increasingly being used in the clinic to guide therapeutic decisions. However, the mechanisms which cause these translocations remain poorly understood. Illegit...

  2. The population genomics of trans-specific inversion polymorphisms in Anopheles gambiae.

    Science.gov (United States)

    White, Bradley J; Cheng, Changde; Sangaré, Djibril; Lobo, Neil F; Collins, Frank H; Besansky, Nora J

    2009-09-01

    In the malaria mosquito Anopheles gambiae polymorphic chromosomal inversions may play an important role in adaptation to environmental variation. Recently, we used microarray-based divergence mapping combined with targeted resequencing to map nucleotide differentiation between alternative arrangements of the 2La inversion. Here, we applied the same technique to four different polymorphic inversions on the 2R chromosome of An. gambiae. Surprisingly, divergence was much lower between alternative arrangements for all 2R inversions when compared to the 2La inversion. For one of the rearrangements, 2Ru, we successfully mapped a very small region (approximately 100 kb) of elevated divergence. For the other three rearrangements, we did not identify any regions of significantly high divergence, despite ample independent evidence from natural populations of geographic clines and seasonal cycling, and stable heterotic polymorphisms in laboratory populations. If these inversions are the targets of selection as hypothesized, we suggest that divergence between rearrangements may have escaped detection due to retained ancestral polymorphism in the case of the youngest 2R rearrangements and to extensive gene flux in the older 2R inversion systems that segregate in both An. gambiae and its sibling species An. arabiensis. PMID:19581444

  3. Genetics Home Reference: ring chromosome 20 syndrome

    Science.gov (United States)

    ... 3 links) Encyclopedia: Chromosome Encyclopedia: Epilepsy Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 20 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  4. Genetics Home Reference: ring chromosome 14 syndrome

    Science.gov (United States)

    ... Encyclopedia: Chromosome Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 14 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  5. Bacterial chromosome organization and segregation.

    Science.gov (United States)

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

    2015-01-01

    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. PMID:26566111

  6. Chromosome Aberrations in Human Epithelial Cells Exposed Los Alamos High-Energy Secondary Neutrons: M-BAND Analysis

    Science.gov (United States)

    Hada, M.; Saganti, P. B.; Gersey, B.; Wilkins, R.; Cucinotta, F. A.; Wu, H.

    2007-01-01

    High-energy secondary neutrons, produced by the interaction of galactic cosmic rays (GCR) with the atmosphere, spacecraft structure and planetary surfaces, contribute a significant fraction to the dose equivalent radiation measurement in crew members and passengers of commercial aviation travel as well as astronauts in space missions. The Los Alamos Nuclear Science Center (LANSCE) neutron facility's 30L beam line (4FP30L-A/ICE House) is known to generate neutrons that simulate the secondary neutron spectrum of the Earth's atmosphere at high altitude. The neutron spectrum is also similar to that measured onboard spacecrafts like the MIR and the International Space Station (ISS). To evaluate the biological damage, we exposed human epithelial cells in vitro to the LANSCE neutron beams with an entrance dose rate of 2.5 cGy/hr, and studied the induction of chromosome aberrations that were identified with multicolor-banding in situ hybridization (mBAND) technique. With this technique, individually painted chromosomal bands on one chromosome allowed the identification of inter-chromosomal aberrations (translocation to unpainted chromosomes) and intra-chromosomal aberrations (inversions and deletions within a single painted chromosome). Compared to our previous results with gamma-rays and 600 MeV/nucleon Fe ions of high dose rate at NSRL (NASA Space Radiation Laboratory at Brookhaven National Laboratory), the neutron data from the LANSCE experiments showed significantly higher frequency of chromosome aberrations. However, detailed analysis of the inversion type revealed that all of the three radiation types in the study induced a low incidence of simple inversions. Most of the inversions in gamma-ray irradiated samples were accompanied by other types of intrachromosomal aberrations but few inversions were accompanied by interchromosomal aberrations. In contrast, neutrons and Fe ions induced a significant fraction of inversions that involved complex rearrangements of both

  7. ADN et chromosomes

    OpenAIRE

    Hayes, Hélène

    2000-01-01

    Chaque chromosome contient une seule molécule d’ADN. L’ADN déroulé d’un noyau de cellule humaine mesurerait environ 1,8 m : chaque molécule d’ADN est enroulée et compactée en plusieurs étapes, grâce à l’association de différentes protéines, et loge dans le noyau de 6 µm de diamètre. Le degré de condensation de l’ADN est variable selon les régions chromosomiques et les régions les moins condensées sont les plus riches en gènes. L’ADN est composé d’une variété de séquences codantes ou non et ré...

  8. X-Chromosome dosage compensation.

    Science.gov (United States)

    Meyer, Barbara J

    2005-01-01

    In mammals, flies, and worms, sex is determined by distinctive regulatory mechanisms that cause males (XO or XY) and females (XX) to differ in their dose of X chromosomes. In each species, an essential X chromosome-wide process called dosage compensation ensures that somatic cells of either sex express equal levels of X-linked gene products. The strategies used to achieve dosage compensation are diverse, but in all cases, specialized complexes are targeted specifically to the X chromosome(s) of only one sex to regulate transcript levels. In C. elegans, this sex-specific targeting of the dosage compensation complex (DCC) is controlled by the same developmental signal that establishes sex, the ratio of X chromosomes to sets of autosomes (X:A signal). Molecular components of this chromosome counting process have been defined. Following a common step of regulation, sex determination and dosage compensation are controlled by distinct genetic pathways. C. elegans dosage compensation is implemented by a protein complex that binds both X chromosomes of hermaphrodites to reduce transcript levels by one-half. The dosage compensation complex resembles the conserved 13S condensin complex required for both mitotic and meiotic chromosome resolution and condensation, implying the recruitment of ancient proteins to the new task of regulating gene expression. Within each C. elegans somatic cell, one of the DCC components also participates in the separate mitotic/meiotic condensin complex. Other DCC components play pivotal roles in regulating the number and distribution of crossovers during meiosis. The strategy by which C. elegans X chromosomes attract the condensin-like DCC is known. Small, well-dispersed X-recognition elements act as entry sites to recruit the dosage compensation complex and to nucleate spreading of the complex to X regions that lack recruitment sites. In this manner, a repressed chromatin state is spread in cis over short or long distances, thus establishing the

  9. Chromosome survey for children of A-bomb survivors

    International Nuclear Information System (INIS)

    To investigate chromosomes from children of A-bomb survivors, cytogenetic survey has been started in 1967 by the ABCC and completed in 1985 by the succeeding RERF. This paper is designed to overview the cytogenetic survey and to discuss the cytogenetic effects of A-bomb radiation. A cohort of 16,298 children of A-bomb survivors, which were collected from mortality survey population in 1974, was enrolled in this survey and was divided into two groups: the proximally exposed group (n=8,322, whose parents exposed to estimated doses of 0.01 Gy or more within 2,000 m from the hypocenter) and the distally exposed group (n=7,976, those exposed to 0.005 Gy or less far from 2,500 m or not in the city). Three chromosomal aberrations were identified: sex chromosome aberrations consisting mainly of XYY, XXY, and mosaic; structural abnormality of autosomes consisting mainly of translocation and inversion; and trisomy of autosomes. Overall, the incidence of chromosomal aberrations was higher in the distally exposed group (6.39%) than the proximally exposed group (5.17%). According to the type of chromosomal aberrations, the incidences of both sex chromosomes and structural abnormality of autosomes were slightly higher in the distally exposed group (0.30% and 0.34%) than the proximally exposed group (0.23% and 0.28%). Trisomy of autosomes was identified in only one child in the proximally exposed group. These findings failed to demonstrate the rationale for the cytogenetic effects of A-bomb radiation; however, cytogenetic risk of radiation has not been denied completely. (N.K.)

  10. Detection of specific chromosomal aberrations in urine using BCA-1 (oligo-CGH-array) enhances diagnostic sensitivity and predicts the aggressiveness of non-muscle-invasive bladder transitional cell carcinoma

    OpenAIRE

    Cussenot, Olivier; Sighar, Karim; Mohammed, Mansoor; Hugonin, Sylvain; Ondet, Valérie; Larre, Stéphane; Lacave, Roger; Roupret, Morgan; Cancel-Tassin, Géraldine

    2013-01-01

    Introduction Bladder carcinoma (B-TCC) is the fifth most prevalent carcinoma in the United States (US) or Europe. In addition, B-TCC is the most expensive carcinoma per patient between diagnosis and death, because of its 50–80 % recurrence rate. B-TCC is an optimal carcinoma for which to detect DNA alterations in urine, which is easily obtainable. Chromosomal aberrations in tumors have been closely related to the carcinogenesis process. Material and Methods We developed a highly specific and ...

  11. Genome comparisons reveal a dominant mechanism of chromosome number reduction in grasses and accelerated genome evolution in Triticeae

    Science.gov (United States)

    Luo, M. C.; Deal, K. R.; Akhunov, E. D.; Akhunova, A. R.; Anderson, O. D.; Anderson, J. A.; Blake, N.; Clegg, M. T.; Coleman-Derr, D.; Conley, E. J.; Crossman, C. C.; Dubcovsky, J.; Gill, B. S.; Gu, Y. Q.; Hadam, J.; Heo, H. Y.; Huo, N.; Lazo, G.; Ma, Y.; Matthews, D. E.; McGuire, P. E.; Morrell, P. L.; Qualset, C. O.; Renfro, J.; Tabanao, D.; Talbert, L. E.; Tian, C.; Toleno, D. M.; Warburton, M. L.; You, F. M.; Zhang, W.; Dvorak, J.

    2009-01-01

    Single-nucleotide polymorphism was used in the construction of an expressed sequence tag map of Aegilops tauschii, the diploid source of the wheat D genome. Comparisons of the map with the rice and sorghum genome sequences revealed 50 inversions and translocations; 2, 8, and 40 were assigned respectively to the rice, sorghum, and Ae. tauschii lineages, showing greatly accelerated genome evolution in the large Triticeae genomes. The reduction of the basic chromosome number from 12 to 7 in the Triticeae has taken place by a process during which an entire chromosome is inserted by its telomeres into a break in the centromeric region of another chromosome. The original centromere–telomere polarity of the chromosome arms is maintained in the new chromosome. An intrachromosomal telomere–telomere fusion resulting in a pericentric translocation of a chromosome segment or an entire arm accompanied or preceded the chromosome insertion in some instances. Insertional dysploidy has been recorded in three grass subfamilies and appears to be the dominant mechanism of basic chromosome number reduction in grasses. A total of 64% and 66% of Ae. tauschii genes were syntenic with sorghum and rice genes, respectively. Synteny was reduced in the vicinity of the termini of modern Ae. tauschii chromosomes but not in the vicinity of the ancient termini embedded in the Ae. tauschii chromosomes, suggesting that the dependence of synteny erosion on gene location along the centromere–telomere axis either evolved recently in the Triticeae phylogenetic lineage or its evolution was recently accelerated. PMID:19717446

  12. Chromosomal phylogeny of the Drosophila fasciola species subgroup revisited (Diptera, Drosophilidae

    Directory of Open Access Journals (Sweden)

    Nilda Maria Diniz

    2004-01-01

    Full Text Available The analysis of polytene chromosomes in 26 strains of seven species in the Drosophila fasciola subgroup, from several locations in Brazil, in addition to strains of two species belonging to the Drosophila mulleri subgroup (D. aldrichi and D. mulleri, enabled us to determine that the 3c inversion found in the latter species differ in one of its break points from that present in the species of the fasciola subgroup. Therefore, a change in the mulleri complex denomination from inversion 3c to inversion 3u is proposed. Accordingly, the fasciola subgroup is no longer a lesser phylogenetic part within the mulleri subgroup. Rather, it is directly related to the likely ancestor of the repleta group, called Primitive I. This information removes the main obstacle to considering the Drosophila fasciola subgroup as an ancestral group within the Drosophila repleta species group, according to the hypothesis of Throckmorton. Our data also support the conclusion that D. onca and D. carolinae are closely related species based on one new inversion in chromosome 4 (4f², in both species. D. fascioloides and D. ellisoni also form a pair of sister species based on the presence of fusions of chromosomes 2-4 and 3-5. D. rosinae is related only to the likely ancestor of the fasciola subgroup, where the 3c inversion was fixed.

  13. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

    2012-07-15

    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

  14. Mitotic chromosome condensation in vertebrates

    International Nuclear Information System (INIS)

    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

  15. Inverse fusion PCR cloning.

    Directory of Open Access Journals (Sweden)

    Markus Spiliotis

    Full Text Available Inverse fusion PCR cloning (IFPC is an easy, PCR based three-step cloning method that allows the seamless and directional insertion of PCR products into virtually all plasmids, this with a free choice of the insertion site. The PCR-derived inserts contain a vector-complementary 5'-end that allows a fusion with the vector by an overlap extension PCR, and the resulting amplified insert-vector fusions are then circularized by ligation prior transformation. A minimal amount of starting material is needed and experimental steps are reduced. Untreated circular plasmid, or alternatively bacteria containing the plasmid, can be used as templates for the insertion, and clean-up of the insert fragment is not urgently required. The whole cloning procedure can be performed within a minimal hands-on time and results in the generation of hundreds to ten-thousands of positive colonies, with a minimal background.

  16. Inversion amalgam chronopotentiometry

    International Nuclear Information System (INIS)

    The review deals with the theoretical principles of the method of inversion amalgam chronopotentiometry. The transition times and the potential-time relations for the electrochemical dissolution of amalgams under galvanostatic conditions are analysed and the applications of the method in electroanalytical practise, in the study of the kinetics of electrode processes and adsorption, in the determination of the numbers of electrons involved in the reaction and diffusion coefficients, and in the study of complex formation, corrosion of amalgams, etc. are examined in detail. The fundamentals of the theory of electrode processes complicated by preceding, subsequent, and simultaneous chemical reactions are described. The possibilities and advantages of the method of amalgam chronopotentiometry in relation to other electrochemical procedures are indicated

  17. Dark Radiative Inverse Seesaw

    CERN Document Server

    Ahriche, Amine; Nasri, Salah

    2016-01-01

    We present a minimal model that simultaneously accounts for neutrino masses and the origin of dark matter (DM) and where the electroweak phase transition is strong enough to allow for electroweak baryogenesis. The Standard Model is enlarged with a Majorana fermion, three generations of chiral fermion pairs, and a single complex scalar that plays a central role in DM production and phenomenology, neutrino masses, and the strength of the phase transition. All the new fields are singlets under the SM gauge group. Neutrino masses are generated via a new variant of radiative inverse seesaw where the required small mass term is generated via loops involving DM and no large hierarchy is assumed among the mass scales. The model offers all the advantage of low-scale neutrino mass models as well as a viable dark matter candidate that is testable with direct detection experiments.

  18. The chromosomes of the Didelphidae (Marsupialia) and their evolutionary significance

    Science.gov (United States)

    Reig, O.; Gardner, A.L.; Bianchi, N.O.; Patton, J.L.

    1977-01-01

    One hundred and seventy-seven specimens of American didelphids, representing 9 genera and 22 species have been studied for their chromosomal constitution. Didelphids are very conservative in chromosomal complements. All of the studied species can be sorted into one of three kinds of karyotypes: 2n= 14 (three species of Didelphis, one of Lutreolina, two of Philander, and one of Chironectes), 2n = 14 (eight species of Marmosa, one of Metachirus, three of Caluromys, and one of Dromiciops), and 2n= 18 (three species of Monodelphis). These karyotypes are stable, showing only minor variations within each basic pattern. It is concluded that chromosomals evolution in the Didelphidae proceededs from low numbers to higher numbers by a process of centromeric fissioning complemented by some pericentric inversions and/or translocations. The pattern of karyotypic stability is consistent with bradytely at the organismic level of evolution. This is explained by a low rate of regulatory genetic evolution promoted by epistatic selection favouring the retention of chromosomal arrangements highly advantageous for overall adaptation.

  19. Wavelet Sparse Approximate Inverse Preconditioners

    Science.gov (United States)

    Chan, Tony F.; Tang, W.-P.; Wan, W. L.

    1996-01-01

    There is an increasing interest in using sparse approximate inverses as preconditioners for Krylov subspace iterative methods. Recent studies of Grote and Huckle and Chow and Saad also show that sparse approximate inverse preconditioner can be effective for a variety of matrices, e.g. Harwell-Boeing collections. Nonetheless a drawback is that it requires rapid decay of the inverse entries so that sparse approximate inverse is possible. However, for the class of matrices that, come from elliptic PDE problems, this assumption may not necessarily hold. Our main idea is to look for a basis, other than the standard one, such that a sparse representation of the inverse is feasible. A crucial observation is that the kind of matrices we are interested in typically have a piecewise smooth inverse. We exploit this fact, by applying wavelet techniques to construct a better sparse approximate inverse in the wavelet basis. We shall justify theoretically and numerically that our approach is effective for matrices with smooth inverse. We emphasize that in this paper we have only presented the idea of wavelet approximate inverses and demonstrated its potential but have not yet developed a highly refined and efficient algorithm.

  20. Holocaust inversion and contemporary antisemitism.

    OpenAIRE

    Klaff, Lesley D

    2014-01-01

    One of the cruellest aspects of the new antisemitism is its perverse use of the Holocaust as a stick to beat 'the Jews'. This article explains the phenomenon of 'Holocaust Inversion', which involves an 'inversion of reality' (the Israelis are cast as the 'new' Nazis and the Palestinians as the 'new' Jews) and an 'inversion of morality' (the Holocaust is presented as a moral lesson for, or even a moral indictment of, 'the Jews'). Holocaust inversion is a form of soft-core Holocaust denial, yet...

  1. Micro-geographic variation of inversions in natural populations of Drosophila pseudoobscura

    Directory of Open Access Journals (Sweden)

    Salceda Víctor M.

    2006-01-01

    Full Text Available Chromosomal polymorphism for the third chromosome in Drosophila pseudoobscura has been widely studied for genetic variation in different environments or locations far apart. However, there is less information regarding sites geographically near one another. Targeting on possible micro-geographic variation in the species, a serial study was done on 12 Mexican populations grouped in four regions, including locations in Durango (DU, the border area of Guanajuato-San Luis Potosi states (GP, Chiapas (CH and Saldilo (SA. Flies were trapped in their natural habitats using fermenting bananas as bait. They were individually cultivated in the laboratory for larvae production. In a given population sample several flies were cultivated together but only one larva per culture provided salivary tissue to observe polytene chromosomes. Gene arrangements or inversions were identified and frequencies were calculated. A total of 767 third chromosomes were studied and 11 different inversions detected. The type and relative frequencies of the arrangements varied among regions. From the 11 inversions observed, 10 were found in Durango, five in Guanajuato-San Luis Potosi and Chiapas, and eight in Saltillo. The inversion frequencies in the Durango locations varied in four cases, but only one in Chiapas, three cases in Guanajuato-San Luis Potosi, and five in Saltillo. It was also observed that there were geographical gradients for inversions within regions as follows: four arrangements in Saltillo and Durango, three in Guanajuato-San Luis Potosí and one in Chiapas. Moreover, all four regions studied showed evidences for micro-geographical variation. Nevertheless, more studies are needed to elucidate the relevance of the inversion frequencies changes in neighboring populations and also any seasonal-annual frequencies observed in the locations studied here.

  2. Population inversion in monolayer and bilayer graphene

    International Nuclear Information System (INIS)

    The recent demonstration of saturable absorption and negative optical conductivity in the Terahertz range in graphene has opened up new opportunities for optoelectronic applications based on this and other low dimensional materials. Recently, population inversion across the Dirac point has been observed directly by time- and angle-resolved photoemission spectroscopy (tr-ARPES), revealing a relaxation time of only ∼130 femtoseconds. This severely limits the applicability of single layer graphene to, for example, Terahertz light amplification. Here we use tr-ARPES to demonstrate long-lived population inversion in bilayer graphene. The effect is attributed to the small band gap found in this compound. We propose a microscopic model for these observations and speculate that an enhancement of both the pump photon energy and the pump fluence may further increase this lifetime. (paper)

  3. Chromosome conservation in squamate reptiles revealed by comparative chromosome painting

    Czech Academy of Sciences Publication Activity Database

    Giovannotti, M.; Pokorná, Martina; Kratochvíl, L.; Caputo, V.; Olmo, E.; Ferguson-Smith, M. A.; Rens, W.

    Manchester : ICCS, 2011. 78-78. [Intarnational Chromosome Conference /18./. 29.08.2011-02.09.2011, Manchester] Institutional research plan: CEZ:AV0Z50450515 Keywords : squamate reptiles Subject RIV: EG - Zoology

  4. Generating Generalized Inverse Gaussian Random Variates by Fast Inversion

    OpenAIRE

    Leydold, Josef; Hörmann, Wolfgang

    2009-01-01

    We demonstrate that for the fast numerical inversion of the (generalized) inverse Gaussian distribution two algorithms based on polynomial interpolation are well-suited. Their precision is close to machine precision and they are much faster than the bisection method recently proposed by Y. Lai. (author´s abstract)

  5. Numerous transitions of sex chromosomes in Diptera.

    Directory of Open Access Journals (Sweden)

    Beatriz Vicoso

    2015-04-01

    Full Text Available 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. Recurrent DNA inversion rearrangements in the human genome

    DEFF Research Database (Denmark)

    Flores, Margarita; Morales, Lucía; Gonzaga-Jauregui, Claudia;

    2007-01-01

    Several lines of evidence suggest that reiterated sequences in the human genome are targets for nonallelic homologous recombination (NAHR), which facilitates genomic rearrangements. We have used a PCR-based approach to identify breakpoint regions of rearranged structures in the human genome. In...... human genomic variation is discussed....... particular, we have identified intrachromosomal identical repeats that are located in reverse orientation, which may lead to chromosomal inversions. A bioinformatic workflow pathway to select appropriate regions for analysis was developed. Three such regions overlapping with known human genes, located on...

  7. Meiosis and chromosome painting of sex chromosome systems in Ceboidea.

    Science.gov (United States)

    Mudry, M D; Rahn, I M; Solari, A J

    2001-06-01

    The identity of the chromosomes involved in the multiple sex system of Alouatta caraya (Aca) and the possible distribution of this system among other Ceboidea were investigated by chromosome painting of mitotic cells from five species and by analysis of meiosis at pachytene in two species. The identity of the autosome #7 (X2) involved in the multiple system of Aca and its breakage points were demonstrated by both meiosis and chromosome painting. These features are identical to those described by Consigliere et al. [1996] in Alouatta seniculus sara (Assa) and Alouatta seniculus arctoidea (Asar). This multiple system was absent in the other four Ceboidea species studied here. However, data from the literature strongly suggest the presence of this multiple in other members of this genus. The presence of this multiple system among several species and subspecies that show high levels of chromosome rearrangements may suggest a special selective value of this multiple. The meiotic features of the sex systems of Aca and Cebus apella paraguayanus (Cap) are strikingly different at pachytene, as the latter system is similar to the sex pair of man and other primates. The relatively large genetic distances between species presently showing this multiple system suggest that its origin is not recent. Other members of the same genus should be investigated at meiosis and by chromosome painting in order to know the extent and distribution of this complex sex-chromosome system. PMID:11376445

  8. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri

    2010-04-01

    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.

  9. Methods for chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    1995-01-01

    Methods and compositions for chromosome-specific staining are provided. Compositions comprise heterogenous mixtures of labeled nucleic acid fragments having substantially complementary base sequences to unique sequence regions of the chromosomal DNA for which their associated staining reagent is specific. Methods include methods for making the chromosome-specific staining compositions of the invention, and methods for applying the staining compositions to chromosomes.

  10. Inverse problem in hydrogeology

    Science.gov (United States)

    Carrera, Jesús; Alcolea, Andrés; Medina, Agustín; Hidalgo, Juan; Slooten, Luit J.

    2005-03-01

    The state of the groundwater inverse problem is synthesized. Emphasis is placed on aquifer characterization, where modelers have to deal with conceptual model uncertainty (notably spatial and temporal variability), scale dependence, many types of unknown parameters (transmissivity, recharge, boundary conditions, etc.), nonlinearity, and often low sensitivity of state variables (typically heads and concentrations) to aquifer properties. Because of these difficulties, calibration cannot be separated from the modeling process, as it is sometimes done in other fields. Instead, it should be viewed as one step in the process of understanding aquifer behavior. In fact, it is shown that actual parameter estimation methods do not differ from each other in the essence, though they may differ in the computational details. It is argued that there is ample room for improvement in groundwater inversion: development of user-friendly codes, accommodation of variability through geostatistics, incorporation of geological information and different types of data (temperature, occurrence and concentration of isotopes, age, etc.), proper accounting of uncertainty, etc. Despite this, even with existing codes, automatic calibration facilitates enormously the task of modeling. Therefore, it is contended that its use should become standard practice. L'état du problème inverse des eaux souterraines est synthétisé. L'accent est placé sur la caractérisation de l'aquifère, où les modélisateurs doivent jouer avec l'incertitude des modèles conceptuels (notamment la variabilité spatiale et temporelle), les facteurs d'échelle, plusieurs inconnues sur différents paramètres (transmissivité, recharge, conditions aux limites, etc.), la non linéarité, et souvent la sensibilité de plusieurs variables d'état (charges hydrauliques, concentrations) des propriétés de l'aquifère. A cause de ces difficultés, le calibrage ne peut êtreséparé du processus de modélisation, comme c'est le

  11. Inverse fracture network modelling

    International Nuclear Information System (INIS)

    The basic problem in analyzing flow and transport in fractured rock is that the flow may be largely governed by a poorly connected network of fractures. Flow in such a system cannot be modeled with traditional modelling techniques. Fracture network models also have a limitation, in that they are based on geological data on fracture geometry even though it is known that only a small portion of fractures observed is hydraulically active. This paper discusses a new technique developed for treating the problem as well as presents a modelling example carried out to apply it. The approach is developed in Lawrence Berkeley Laboratory and it treats the fracture zone as an 'equivalent discontinuum'. The discontinuous nature of the problem is represented through flow on a partially filled lattice. An equivalent discontinuum model is constructed by adding and removing conductive elements through a statistical inverse technique called 'simulated annealing'. The fracture network model is 'annealed' until the modified systems behaves like the observed. The further development of the approach continues at LBL and in a joint LBL/VTT collaboration project the possibilities to apply the technique in Finnish conditions are investigated

  12. Inverse Problems of Thermoelectricity

    Science.gov (United States)

    Anatychuk, L. I.; Luste, O. J.; Kuz, R. V.; Strutinsky, M. N.

    2011-05-01

    Classical thermoelectricity is based on the use of the Seebeck and Thomson effects that occur in the near-contact areas between n- and p-type materials. A conceptually different approach to thermoelectric power converter design that is based on the law of thermoelectric induction of currents is also known. The efficiency of this approach has already been demonstrated by its first applications. More than 10 basically new types of thermoelements were discovered with properties that cannot be achieved by thermocouple power converters. Therefore, further development of this concept is of practical interest. This paper provides a classification and theory for solving the inverse problems of thermoelectricity that form the basis for devising new thermoelement types. Computer methods for their solution for anisotropic and inhomogeneous media are elaborated. Regularities related to thermoelectric current excitation in anisotropic and inhomogeneous media are established. The possibility of obtaining eddy currents of a particular configuration through control of the temperature field and material parameters for the creation of new thermo- element types is demonstrated for three-dimensional (3D) models of anisotropic and inhomogeneous media.

  13. Chromosome Architecture and Genome Organization

    OpenAIRE

    Giorgio Bernardi

    2015-01-01

    How the same DNA sequences can function in the three-dimensional architecture of interphase nucleus, fold in the very compact structure of metaphase chromosomes and go precisely back to the original interphase architecture in the following cell cycle remains an unresolved question to this day. The strategy used to address this issue was to analyze the correlations between chromosome architecture and the compositional patterns of DNA sequences spanning a size range from a few hundreds to a few...

  14. Chromosome evolution in Neotropical butterflies

    OpenAIRE

    Saura, Anssi; Von Schoultz, Barbara; Saura, Anja O.; Brown, Keith S., Jr.

    2013-01-01

    We list the chromosome numbers for 65 species of Neotropical Hesperiidae and 104 species or subspecies of Pieridae. In Hesperiidae the tribe Pyrrhopygini have a modal n = 28, Eudaminae and Pyrgini a modal n = 31, while Hesperiinae have n = around 29. Among Pieridae, Coliadinae have a strong modal n = 31 and among Pierinae Anthocharidini are almost fixed for n = 15 while Pierini vary with n = 26 as the most common chromosome number. Dismorphiinae show wide variation. We discuss these results i...

  15. Multiscale Modelling and Inverse Problems

    CERN Document Server

    Nolen, J; Stuart, A M

    2010-01-01

    The need to blend observational data and mathematical models arises in many applications and leads naturally to inverse problems. Parameters appearing in the model, such as constitutive tensors, initial conditions, boundary conditions, and forcing can be estimated on the basis of observed data. The resulting inverse problems are often ill-posed and some form of regularization is required. These notes discuss parameter estimation in situations where the unknown parameters vary across multiple scales. We illustrate the main ideas using a simple model for groundwater flow. We will highlight various approaches to regularization for inverse problems, including Tikhonov and Bayesian methods. We illustrate three ideas that arise when considering inverse problems in the multiscale context. The first idea is that the choice of space or set in which to seek the solution to the inverse problem is intimately related to whether a homogenized or full multiscale solution is required. This is a choice of regularization. The ...

  16. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    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.

  17. Chromosome evolution in Neotropical butterflies.

    Science.gov (United States)

    Saura, Anssi; Von Schoultz, Barbara; Saura, Anja O; Brown, Keith S

    2013-06-01

    We list the chromosome numbers for 65 species of Neotropical Hesperiidae and 104 species or subspecies of Pieridae. In Hesperiidae the tribe Pyrrhopygini have a modal n = 28, Eudaminae and Pyrgini a modal n = 31, while Hesperiinae have n = around 29. Among Pieridae, Coliadinae have a strong modal n = 31 and among Pierinae Anthocharidini are almost fixed for n = 15 while Pierini vary with n = 26 as the most common chromosome number. Dismorphiinae show wide variation. We discuss these results in the context of chromosome numbers of over 1400 Neotropical butterfly species and subspecies derived from about 3000 populations published here and in earlier papers of a series. The overall results show that many Neotropical groups are characterized by karyotype instability with several derived modal numbers or none at all, while almost all taxa of Lepidoptera studied from the other parts of the world have one of n = 29-31 as modal numbers. Possibly chromosome number changes become fixed in the course of speciation driven by biotic interactions. Population subdivision and structuring facilitate karyotype change. Factors that stabilize chromosome numbers include hybridization among species sharing the same number, migration, sexual selection and possibly the distribution of chromosomes within the nucleus. PMID:23865963

  18. Chromosome Architecture and Genome Organization

    Science.gov (United States)

    Bernardi, Giorgio

    2015-01-01

    How the same DNA sequences can function in the three-dimensional architecture of interphase nucleus, fold in the very compact structure of metaphase chromosomes and go precisely back to the original interphase architecture in the following cell cycle remains an unresolved question to this day. The strategy used to address this issue was to analyze the correlations between chromosome architecture and the compositional patterns of DNA sequences spanning a size range from a few hundreds to a few thousands Kilobases. This is a critical range that encompasses isochores, interphase chromatin domains and boundaries, and chromosomal bands. The solution rests on the following key points: 1) the transition from the looped domains and sub-domains of interphase chromatin to the 30-nm fiber loops of early prophase chromosomes goes through the unfolding into an extended chromatin structure (probably a 10-nm “beads-on-a-string” structure); 2) the architectural proteins of interphase chromatin, such as CTCF and cohesin sub-units, are retained in mitosis and are part of the discontinuous protein scaffold of mitotic chromosomes; 3) the conservation of the link between architectural proteins and their binding sites on DNA through the cell cycle explains the “mitotic memory” of interphase architecture and the reversibility of the interphase to mitosis process. The results presented here also lead to a general conclusion which concerns the existence of correlations between the isochore organization of the genome and the architecture of chromosomes from interphase to metaphase. PMID:26619076

  19. Comparative Genomics of Interreplichore Translocations in Bacteria: A Measure of Chromosome Topology?

    Directory of Open Access Journals (Sweden)

    Supriya Khedkar

    2016-06-01

    Full Text Available Genomes evolve not only in base sequence but also in terms of their architecture, defined by gene organization and chromosome topology. Whereas genome sequence data inform us about the changes in base sequences for a large variety of organisms, the study of chromosome topology is restricted to a few model organisms studied using microscopy and chromosome conformation capture techniques. Here, we exploit whole genome sequence data to study the link between gene organization and chromosome topology in bacteria. Using comparative genomics across ∼250 pairs of closely related bacteria we show that: (a many organisms show a high degree of interreplichore translocations throughout the chromosome and not limited to the inversion-prone terminus (ter or the origin of replication (oriC; (b translocation maps may reflect chromosome topologies; and (c symmetric interreplichore translocations do not disrupt the distance of a gene from oriC or affect gene expression states or strand biases in gene densities. In summary, we suggest that translocation maps might be a first line in defining a gross chromosome topology given a pair of closely related genome sequences.

  20. Simulation of the Formation of DNA Double Strand Breaks and Chromosome Aberrations in Irradiated Cells

    Science.gov (United States)

    Plante, Ianik; Ponomarev, Artem L.; Wu, Honglu; Blattnig, Steve; George, Kerry

    2014-01-01

    The formation of DNA double-strand breaks (DSBs) and chromosome aberrations is an important consequence of ionizing radiation. To simulate DNA double-strand breaks and the formation of chromosome aberrations, we have recently merged the codes RITRACKS (Relativistic Ion Tracks) and NASARTI (NASA Radiation Track Image). The program RITRACKS is a stochastic code developed to simulate detailed event-by-event radiation track structure: [1] This code is used to calculate the dose in voxels of 20 nm, in a volume containing simulated chromosomes, [2] The number of tracks in the volume is calculated for each simulation by sampling a Poisson distribution, with the distribution parameter obtained from the irradiation dose, ion type and energy. The program NASARTI generates the chromosomes present in a cell nucleus by random walks of 20 nm, corresponding to the size of the dose voxels, [3] The generated chromosomes are located within domains which may intertwine, and [4] Each segment of the random walks corresponds to approx. 2,000 DNA base pairs. NASARTI uses pre-calculated dose at each voxel to calculate the probability of DNA damage at each random walk segment. Using the location of double-strand breaks, possible rejoining between damaged segments is evaluated. This yields various types of chromosomes aberrations, including deletions, inversions, exchanges, etc. By performing the calculations using various types of radiations, it will be possible to obtain relative biological effectiveness (RBE) values for several types of chromosome aberrations.

  1. The Role of Dicentric Chromosome Formation and Secondary Centromere Deletion in the Evolution of Myeloid Malignancy

    Science.gov (United States)

    MacKinnon, Ruth N.; Campbell, Lynda J.

    2011-01-01

    Dicentric chromosomes have been identified as instigators of the genome instability associated with cancer, but this instability is often resolved by one of a number of different secondary events. These include centromere inactivation, inversion, and intercentromeric deletion. Deletion or excision of one of the centromeres may be a significant occurrence in myeloid malignancy and other malignancies but has not previously been widely recognized, and our reports are the first describing centromere deletion in cancer cells. We review what is known about dicentric chromosomes and the mechanisms by which they can undergo stabilization in both constitutional and cancer genomes. The failure to identify centromere deletion in cancer cells until recently can be partly explained by the standard approaches to routine diagnostic cancer genome analysis, which do not identify centromeres in the context of chromosome organization. This hitherto hidden group of primary dicentric, secondary monocentric chromosomes, together with other unrecognized dicentric chromosomes, points to a greater role for dicentric chromosomes in cancer initiation and progression than is generally acknowledged. We present a model that predicts and explains a significant role for dicentric chromosomes in the formation of unbalanced translocations in malignancy. PMID:22567363

  2. Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran

    Directory of Open Access Journals (Sweden)

    Saeedeh Ghazaey

    2015-04-01

    Full Text Available Background: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs. The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materials and Methods: In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran. Results: In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7% detected in current study. Conclusion: These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.

  3. M-BAND Analysis of Chromosome Aberration In Human Epithelial Cells exposed to Gamma-ray and Secondary Neutrons of Low Dose Rate

    Science.gov (United States)

    Hada, M.; Saganti, P. B.; Gersey, B.; Wilkins, R.; Cucinotta, F. A.; Wu, H.

    2007-01-01

    High-energy secondary neutrons, produced by the interaction of galactic cosmic rays with the atmosphere, spacecraft structure and planetary surfaces, contribute to a significant fraction to the dose equivalent in crew members and passengers during commercial aviation travel, and astronauts in space missions. The Los Alamos Nuclear Science Center (LANSCE) neutron facility's "30L" beam line is known to generate neutrons that simulate the secondary neutron spectrum of the Earth's atmosphere at high altitude. The neutron spectrum is also similar to that measured onboard spacecraft like the MIR and the International Space Station (ISS). To evaluate the biological damage, we exposed human epithelial cells in vitro to the LANSCE neutron beams at an entrance dose rate of 2.5 cGy/hr or gamma-ray at 1.7cGy/hr, and assessed the induction of chromosome aberrations that were identified with mBAND. With this technique, individually painted chromosomal bands on one chromosome allowed the identification of inter-chromosomal aberrations (translocation to unpainted chromosomes) and intra-chromosomal aberrations (inversions and deletions within a single painted chromosome). Compared to our previous results for gamma-rays and 600 MeV/nucleon Fe ions of high dose rate, the neutron data showed a higher frequency of chromosome aberrations. However, detailed analysis of the inversion type revealed that all of the three radiation types in the study induced a low incidence of simple inversions. The low dose rate gamma-rays induced a lower frequency of chromosome aberrations than high dose rate gamma-rays, but the inversion spectrum was similar for the same cytotoxic effect. The distribution of damage sites on chromosome 3 for different radiation types will also be discussed.

  4. Influence of caffeine on chromosome lesions induced by chemical mutagens and radiation. 2

    International Nuclear Information System (INIS)

    The modifying influence of caffeine on γ-ray induced chromosome lesions was studied by chromosome aberration anaysis. Caffeine was applied as a pre- and post-treatment agent following seed (G1) and root meristem (G2 and S) irradiation of C.capillaris. The frequency of chromosome aberrations induced in G1 was changed neither by post- nor by pre-treatment with caffeine. This fact proves the lack of caffeine modifying effect. Applied as a post-treatment agent caffeine enhances considerably the frequency of chromosome aberrations induced in root meristem cells. This is especially valid for G2 irradiated cells, while in S cells no synergistic effect was established between induced chromosome lesions and caffeine. The enhancement of chromosome aberration frequency produced in G2 shows a clearly manifested dependence on the time (moment) of caffeine application post irradiation. Most considerable enhancement was obtained following post-treatment with caffeine immediately after irradiation. In the following intervals - 15 and 30 min - it decreases progressively, while after 60, 180 and 300 min no enhancing effect is observed. The probable causes for the manifestation and the lack of synergistic effect between chromosome lesions induced in the various mitotic cycle phases and caffeine are discussed. (author)

  5. Evolution of Sex Chromosomes in Insects

    OpenAIRE

    Kaiser, Vera B; Bachtrog, Doris

    2010-01-01

    Sex chromosomes have many unusual features relative to autosomes. Y (or W) chromosomes lack genetic recombination, are male- (female-) limited, and show an abundance of genetically inert heterochromatic DNA but contain few functional genes. X (or Z) chromosomes also show sex-biased transmission (i.e., X chromosomes show female-biased and Z-chromosomes show male-biased inheritance) and are hemizygous in the heterogametic sex. Their unusual ploidy level and pattern of inheritance imply that sex...

  6. Aberration distribution and chromosomally marked clones in x-irradiated skin

    International Nuclear Information System (INIS)

    Samples of clinically normal human skin were removed from therapeutically X-irradiated areas at intervals of time ranging from one hour to 60 years after completion of radiation treatment. Primary cultures of untransformed fibroblasts from these samples were analysed for surviving chromosomal structural changes using ASG banding techniques. Aberrations of four basic types, reciprocal translocations, terminal deletions, pericentric inversions and paracentric inversions (the last very rare) were found in all samples. Evidence indicates that many of these are secondary aberrations derived from primary chromatid types. Presumptive break points for all aberrations were mapped, and various tests applied to investigate their within-chromosome distributions (the data are unsuitable for valid between-chromosome analysis). For translocations, the within-arm distributions are non-random, principally as the result of a very significant deficiency of break points in terminal segments. Tests for the intrachromosomal changes (pericentric inversions and deletions) are simpler, and in neither case were there significant departure from randomness Two lines of evidence are present in the data for division and migration of chromosomally abnormal cells in vivo: (a) the presence of identical aberrations in cells from different parts of the biopsy; (b) the presence of cells with sequential changes, indicating cell division between the dose fractions of the therapeutic regime. (author)

  7. Genetics of dioecy and causal sex chromosomes in plants

    Indian Academy of Sciences (India)

    Sushil Kumar; Renu Kumari; Vishakha Sharma

    2014-04-01

    Dioecy (separate male and female individuals) ensures outcrossing and is more prevalent in animals than in plants. Although it is common in bryophytes and gymnosperms, only 5% of angiosperms are dioecious. In dioecious higher plants, flowers borne on male and female individuals are, respectively deficient in functional gynoecium and androecium. Dioecy is inherited via three sex chromosome systems: XX/XY, XX/X0 and WZ/ZZ, such that XX or WZ is female and XY, X0 or ZZ are males. The XX/XY system generates the rarer XX/X0 andWZ/ZZ systems. An autosome pair begets XY chromosomes. A recessive loss-of-androecium mutation (ana) creates X chromosome and a dominant gynoecium-suppressing (GYS) mutation creates Y chromosome. The ana/ANA and gys/GYS loci are in the sex-determining region (SDR) of the XY pair. Accumulation of inversions, deleterious mutations and repeat elements, especially transposons, in the SDR of Y suppresses recombination between X and Y in SDR, making Y labile and increasingly degenerate and heteromorphic from X. Continued recombination between X and Y in their pseudoautosomal region located at the ends of chromosomal arms allows survival of the degenerated Y and of the species. Dioecy is presumably a component of the evolutionary cycle for the origin of new species. Inbred hermaphrodite species assume dioecy. Later they suffer degenerate-Y-led population regression. Cross-hybridization between such extinguishing species and heterologous species, followed by genome duplication of segregants from hybrids, give rise to new species.

  8. Cytogenetic evaluation of chromosomal disorders in Down Syndrome

    International Nuclear Information System (INIS)

    Down Syndrome (DS) patients are at high risk to develop leukemia. They are also highly sensitive to the induction of chromosomal aberrations when their GO lymphocytes are irradiated in vitro. The objective of this study was to further investigate the differential radiosensitivity of DS lymphocytes at the different stages of the cell cycle, as damage to proliferating cells is more relevant to health problems than damage to non-dividing cells. In addition, the proliferation kinetics and stage of differentiation of circulating DS lymphocytes was studied in an attempt to understand the mechanism for the enhanced chromosomal radiosensitivity. Moreover, the x-ray induced specific chromosomal breakpoints were identified and correlated with the locations of oncogene and fragile sites in order to investigate cytogenetically the early stages of leukemogenesis

  9. Enhanced inverse spin Hall contribution at high microwave power levels in La0.67Sr0.33MnO3/SrRuO3 epitaxial bilayers

    International Nuclear Information System (INIS)

    We have investigated microwave power dependence of dc voltage generated upon ferromagnetic resonance in a La0.67Sr0.33MnO3/SrRuO3 epitaxial bilayer film at room temperature. With increasing microwave power above ∼75 mW, the magnitude of the voltage signal decreases as the sample temperature approaches the Curie temperature of La0.67Sr0.33MnO3 due to heating effects. By analyzing the dependence of the voltage signal on the direction of the magnetic field, we show that with increasing microwave power the contribution from the inverse spin Hall effect becomes more dominant than that from the anisotropic magnetoresistance effect

  10. Enhanced inverse spin Hall contribution at high microwave power levels in La{sub 0.67}Sr{sub 0.33}MnO{sub 3}/SrRuO{sub 3} epitaxial bilayers

    Energy Technology Data Exchange (ETDEWEB)

    Haidar, S. M., E-mail: haidar@imr.tohoku.ac.jp; Lustikova, J. [Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Shiomi, Y. [Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Spin Quantum Rectification Project, ERATO, Japan Science and Technology Agency, Sendai 980-8577 (Japan); Saitoh, E. [Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Spin Quantum Rectification Project, ERATO, Japan Science and Technology Agency, Sendai 980-8577 (Japan); WPI Advanced Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Advanced Science Research Center, Japan Atomic Energy Agency, Tokai 319-1195 (Japan)

    2015-10-12

    We have investigated microwave power dependence of dc voltage generated upon ferromagnetic resonance in a La{sub 0.67}Sr{sub 0.33}MnO{sub 3}/SrRuO{sub 3} epitaxial bilayer film at room temperature. With increasing microwave power above ∼75 mW, the magnitude of the voltage signal decreases as the sample temperature approaches the Curie temperature of La{sub 0.67}Sr{sub 0.33}MnO{sub 3} due to heating effects. By analyzing the dependence of the voltage signal on the direction of the magnetic field, we show that with increasing microwave power the contribution from the inverse spin Hall effect becomes more dominant than that from the anisotropic magnetoresistance effect.

  11. Chromosome banding and DNA replication patterns in bird karyotypes.

    Science.gov (United States)

    Schmid, M; Enderle, E; Schindler, D; Schempp, W

    1989-01-01

    The karyotypes of the domestic chicken (Gallus domesticus), Japanese quail (Coturnix coturnix), and griffon vulture (Gyps fulvus) were studied with a variety of banding techniques. The DNA replication patterns of bird chromosomes, analyzed by incorporation of 5-bromodeoxyuridine (BrdU) and deoxythymidine (dT), are presented here for the first time. In particular, the time sequence of replication of the ZZ/ZW sex chromosomes throughout the S-phase was meticulously analyzed. BrdU and dT incorporation are very useful methods to identify homoeologies between karyotypes, as well as rearrangements that occurred in the macroautosomes during speciation. The Z chromosomes of the three birds displayed the same replication patterns, indicating a high degree of evolutionary conservation. In the homogametic male, BrdU and dT incorporation revealed no evidence of asynchronous replication between euchromatic bands in the ZZ pair. The same was true of the three Z chromosomes in a triploid-diploid chimeric chicken embryo. Minor replication asynchronies between the homologous ZZ or ZZZ chromosomes were restricted to heterochromatic C-bands. These results confirm that, in the ZZ male/ZW female sex-determining system of birds, dosage compensation for Z-linked genes does not occur by inactivation of one of the two Z chromosomes in the homogametic male. The heterochromatic W chromosomes of the three species showed bright labeling with distamycin A/mithramycin counterstain-enhanced fluorescence and exhibited significantly delayed DNA replication. The nucleolus organizers of birds, frequently located in microchromosomes, were also distinguished by bright distamycin A/mithramycin fluorescence. PMID:2630186

  12. Multidimensional NMR Inversion without Kronecker Products: Multilinear Inversion

    CERN Document Server

    Medellín, David; Torres-Verdín, Carlos

    2016-01-01

    Multidimensional NMR inversion using Kronecker products poses several challenges. First, kernel compression is only possible when the kernel matrices are separable, and in recent years, there has been an increasing interest in NMR sequences with non-separable kernels. Second, in three or more dimensions, the singular value decomposition is not unique; therefore kernel compression is not well-defined for higher dimensions. Without kernel compression, the Kronecker product yields matrices that require large amounts of memory, making the inversion intractable for personal computers. Finally, incorporating arbitrary regularization terms is not possible using the Lawson-Hanson (LH) or the Butler-Reeds-Dawson (BRD) algorithms. We develop a minimization-based inversion method that circumvents the above problems by using multilinear forms to perform multidimensional NMR inversion without using kernel compression or Kronecker products. The new method is memory efficient, requiring less than 0.1% of the memory required...

  13. Inversion polymorphism in some natural populations of Drosophila pseudoobscura from central Mexico

    Directory of Open Access Journals (Sweden)

    Salceda Víctor M.

    2007-01-01

    Full Text Available Samples of D. pseudoobscura were taken in seventeen localities in Central Mexico inside the parallels 18o - 20o N, with the purpose of determine the chromosomal polymorphism in the third of the different populations of this species. From each captured female a single larva of its offspring was taken, its salivary glands extracted and stained with a solution of aceto orcein to observe the polytene chromosomes. From these smears the corresponding karyotype of each larva was determined, keeping a record of them. With the information gathered the relative frequency of each one of the fourteen different inversions found was calculated. A grand total of 1894 third chromosomes were analyzed. The fourteen different inversions found are equivalent to a 34.1 % of the total chromosomal variation of the species. The most abundant inversions found were: TL 50.6 %, CU 27.2 5, SC 9.1 % and EP 5.5 %; the remaining ten inversions detected are in general grounds rare ones with variable relative frequencies depending on the locality. Analysis of the predominant inversions for each population was done. The presence of West-East gradients is reported, even if in cases not so well defined, since as one moves in a particular direction the ups and downs in relative frequency for the alternating pairs TL-CU; TL-SC in the western populations and TL-CU in the eastern ones were observed. The assignment of each population to a particular race was also done, and such a way we were able to recognize three different races coexisting in the area of study.

  14. Inverse cascades of angular momentum

    International Nuclear Information System (INIS)

    Most theoretical and computational studies of turbulence in Navier-Stokes fluids and/or guiding-centre plasmas have been carried out in the presence of spatially periodic boundary conditions. In view of the frequently reproduced result that two-dimensional and/or MHD decaying turbulence leads to structures comparable in length scae to a box dimension, it is natural to ask if periodic boundary conditions are an adequate representation of any physical situation. Here, we study, computationally, the decay of two-dimensional turbulence in a Navier-Stokes fluid or guiding-centre plasma in the presence of circular no-slip rigid walls. The method is wholly spectral, and relies on a Galerkin approximation by a set of functions that obey two boundary conditions at the wall radius (analogues of the Chandrasekhar-Reid functions). It is possible to explore Reynolds numbers up to the order of 1250, based on an RMS velocity and a box radius. It is found that decaying turbulence is altered significantly by the no-slip boundaries. First, strong boundary layers serve as sources of vorticity and enstrophy and enhance the early-time energy decay rate, for a given Reynolds number, well above the periodic boundary condition values. More importantly, angular momentum turns out to be an even more slowly decaying ideal invariant than energy, and to a considerable extent governs the dynamics of the decay. Angular momentum must be taken into account, for example, in order to achieve quantitative agreement with the prediction of maximum entropy, or 'most probable', states. These are predictions of conditions that are established after several eddy turnover times but before the energy has decayed away. Angular momentum will cascade to lower azimuthal mode numbers, even if absent there initially, and the angular momentum modal spectrum is eventually dominated by the lowest mode available. When no initial angular momentum is present, no behaviour that suggests the likelihood of inverse cascades

  15. Chromosome evolution in Solanum traced by cross-species BAC-FISH.

    Science.gov (United States)

    Szinay, Dóra; Wijnker, Erik; van den Berg, Ronald; Visser, Richard G F; de Jong, Hans; Bai, Yuling

    2012-08-01

    Chromosomal rearrangements are relatively rare evolutionary events and can be used as markers to study karyotype evolution. This research aims to use such rearrangements to study chromosome evolution in Solanum. Chromosomal rearrangements between Solanum crops and several related wild species were investigated using tomato and potato bacterial artificial chromosomes (BACs) in a multicolour fluorescent in situ hybridization (FISH). The BACs selected are evenly distributed over seven chromosomal arms containing inversions described in previous studies. The presence/absence of these inversions among the studied Solanum species were determined and the order of the BAC-FISH signals was used to construct phylogenetic trees.Compared with earlier studies, data from this study provide support for the current grouping of species into different sections within Solanum; however, there are a few notable exceptions, such as the tree positions of S. etuberosum (closer to the tomato group than to the potato group) and S. lycopersicoides (sister to S. pennellii). These apparent contradictions might be explained by interspecific hybridization events and/or incomplete lineage sorting. This cross-species BAC painting technique provides unique information on genome organization, evolution and phylogenetic relationships in a wide variety of species. Such information is very helpful for introgressive breeding. PMID:22686400

  16. Parameter estimation and inverse problems

    CERN Document Server

    Aster, Richard C; Thurber, Clifford H

    2011-01-01

    Parameter Estimation and Inverse Problems, 2e provides geoscience students and professionals with answers to common questions like how one can derive a physical model from a finite set of observations containing errors, and how one may determine the quality of such a model. This book takes on these fundamental and challenging problems, introducing students and professionals to the broad range of approaches that lie in the realm of inverse theory. The authors present both the underlying theory and practical algorithms for solving inverse problems. The authors' treatment is approp

  17. Inverse Doppler Effects in Flute

    CERN Document Server

    Zhao, Xiao P; Liu, Song; Shen, Fang L; Li, Lin L; Luo, Chun R

    2015-01-01

    Here we report the observation of the inverse Doppler effects in a flute. It is experimentally verified that, when there is a relative movement between the source and the observer, the inverse Doppler effect could be detected for all seven pitches of a musical scale produced by a flute. Higher tone is associated with a greater shift in frequency. The effect of the inverse frequency shift may provide new insights into why the flute, with its euphonious tone, has been popular for thousands of years in Asia and Europe.

  18. Chromosomal engineering and crop improvement in bread wheat

    International Nuclear Information System (INIS)

    Bread wheat is not only the world's most important food crop but is also an excellent model system for genetic analysis of allopolyploid plants. Diploid nuclear and cytoplasm donors are now known for polyploid wheats. The origin of disomic allopolyploid species can be traced back to a single plant. Establishment of nucleocytoplasmic compatibility is critical in allopolyploid speciation. Polyploid wheats show disomic inheritance that is genetically controlled. Genetic expression arises from interactive and dosage dependent effects. Apart form polyploidy, the basic wheat genome (1n = 1x = 7) is also huge (5.3 x 109 bp). Because of the availability of a large number of cytogenic stocks, target mapping is possible. It shows that the gene rich, recombinogenic regions are restricted to the distal ends of the chromosome arms and gene cloning by chromosome landing is feasible. Because of polyploidy, the wheat genome is highly buffered and transfer of chromosome segments of large linkage blocks is more important than single genes. There are spectacular examples of alien chromosome segments transferred to wheat, either by physical means (irradiation) or by genetic manipulation, which have immensely improved productivity. Therefore, enhancing the efficiency of chromosome engineering protocols is a worthwhile goal in wheat improvement. (author). 15 refs, 3 figs, 1 tab

  19. Physical Modeling of Dynamic Coupling between Chromosomal Loci.

    Science.gov (United States)

    Lampo, Thomas J; Kennard, Andrew S; Spakowitz, Andrew J

    2016-01-19

    The motion of chromosomal DNA is essential to many biological processes, including segregation, transcriptional regulation, recombination, and packaging. Physical understanding of these processes would be dramatically enhanced through predictive, quantitative modeling of chromosome dynamics of multiple loci. Using a polymer dynamics framework, we develop a prediction for the correlation in the velocities of two loci on a single chromosome or otherwise connected by chromatin. These predictions reveal that the signature of correlated motion between two loci can be identified by varying the lag time between locus position measurements. In general, this theory predicts that as the lag time interval increases, the dual-loci dynamic behavior transitions from being completely uncorrelated to behaving as an effective single locus. This transition corresponds to the timescale of the stress communication between loci through the intervening segment. This relatively simple framework makes quantitative predictions based on a single timescale fit parameter that can be directly compared to the in vivo motion of fluorescently labeled chromosome loci. Furthermore, this theoretical framework enables the detection of dynamically coupled chromosome regions from the signature of their correlated motion. PMID:26789757

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

    OpenAIRE

    Paliulis, Leocadia V.; Nicklas, R. Bruce

    2000-01-01

    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 ...

  1. Break Point Distribution on Chromosome 3 of Human Epithelial Cells exposed to Gamma Rays, Neutrons and Fe Ions

    Science.gov (United States)

    Hada, M.; Saganti, P. B.; Gersey, B.; Wilkins, R.; Cucinotta, F. A.; Wu, H.

    2007-01-01

    Most of the reported studies of break point distribution on the damaged chromosomes from radiation exposure were carried out with the G-banding technique or determined based on the relative length of the broken chromosomal fragments. However, these techniques lack the accuracy in comparison with the later developed multicolor banding in situ hybridization (mBAND) technique that is generally used for analysis of intrachromosomal aberrations such as inversions. Using mBAND, we studied chromosome aberrations in human epithelial cells exposed in vitro to both low or high dose rate gamma rays in Houston, low dose rate secondary neutrons at Los Alamos National Laboratory and high dose rate 600 MeV/u Fe ions at NASA Space Radiation Laboratory. Detailed analysis of the inversion type revealed that all of the three radiation types induced a low incidence of simple inversions. Half of the inversions observed after neutron or Fe ion exposure, and the majority of inversions in gamma-irradiated samples were accompanied by other types of intrachromosomal aberrations. In addition, neutrons and Fe ions induced a significant fraction of inversions that involved complex rearrangements of both inter- and intrachromosome exchanges. We further compared the distribution of break point on chromosome 3 for the three radiation types. The break points were found to be randomly distributed on chromosome 3 after neutrons or Fe ions exposure, whereas non-random distribution with clustering break points was observed for gamma-rays. The break point distribution may serve as a potential fingerprint of high-LET radiation exposure.

  2. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola

    2014-06-01

    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.

  3. Radiation-induced chromosomal instability

    Energy Technology Data Exchange (ETDEWEB)

    Ritter, S. [GSI, Biophysics, Darmstadt (Germany)

    1999-03-01

    Recent studies on radiation-induced chromosomal instability in the progeny of exposed mammalian cells were briefly described as well as other related studies. For the analysis of chromosomal damage in clones, cells were seeded directly after exposure in cell well-dish to form single cell clones and post-irradiation chromosome aberrations were scored. Both exposure to isoeffective doses of X-ray or 270 MeV/u C-ions (13 keV/{mu}m) increased the number of clones with abnormal karyotype and the increase was similar for X-ray and for C-ions. Meanwhile, in the progeny of cells for mass cultures, there was no indication of a delayed expression of chromosomal damage up to 40 population doublings after the exposure. A high number of aberrant cells were only observed directly after exposure to 10.7 MeV/u O-ions, i.e. in the first cycle cells and decreased with subsequent cell divisions. The reason for these differences in the radiation-induced chromosomal instability between clonal isolates and mass culture has not been clarified. Recent studies indicated that genomic instability occurs at a high frequency in the progeny of cells irradiated with both sparsely and densely ionizing radiation. Such genomic instability is thought likely to increase the risk of carcinogenesis, but more data are required for a well understanding of the health risks resulting from radiation-induced delayed instability. (M.N.)

  4. Dean flow fractionation of chromosomes

    Science.gov (United States)

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

    2016-03-01

    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.

  5. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    Czech Academy of Sciences Publication Activity Database

    Homolka, David; Ivánek, Robert; Čapková, Jana; Jansa, Petr; Forejt, Jiří

    2007-01-01

    Roč. 17, č. 10 (2007), s. 1431-1437. ISSN 1088-9051 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR GA301/06/1334; GA ČR GA301/07/1383 Grant ostatní: Howard Hughes Medical Institute(US) HHMI 55000306 Institutional research plan: CEZ:AV0Z50520514 Keywords : chromosomal translocations * meiotic X chromosome inactivation * spermatogenesis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 11.224, year: 2007

  6. Uterine Inversion; A case report.

    Science.gov (United States)

    Bouchikhi, C; Saadi, H; Fakhir, B; Chaara, H; Bouguern, H; Banani, A; Melhouf, Ma

    2008-01-01

    The puerperal uterine inversion is a rare and severe complication occurring in the third stage of labour. The mechanisms are not completely known. However, extrinsic factors such as oxytocic arrests after a prolonged labour, umbilical cord traction or abdominal expression are pointed. Other intrinsic factors such as primiparity, uterine hypotonia, various placental localizations, fundic myoma or short umbilical cord were also reported. The diagnosis of the uterine inversion is mainly supported by clinical symptoms. It is based on three elements: haemorrhage, shock and a strong pelvic pain. The immediate treatment of the uterine inversion is required. It is based on a medical reanimation associated with firstly a manual reduction then surgical treatment using various techniques. We report an observation of a 25 years old grand multiparous patient with a subacute uterine inversion after delivery at home. PMID:21516244

  7. Statistical perspectives on inverse problems

    DEFF Research Database (Denmark)

    Andersen, Kim Emil

    interior of an object from electrical boundary measurements. One part of this thesis concerns statistical approaches for solving, possibly non-linear, inverse problems. Thus inverse problems are recasted in a form suitable for statistical inference. In particular, a Bayesian approach for regularisation is...... obtained by assuming that the a priori beliefs about the solution before having observed any data can be described by a prior distribution. The solution to the statistical inverse problem is then given by the posterior distribution obtained by Bayes' formula. Hence the solution of an ill-posed inverse...... problem is given in terms of probability distributions. Posterior inference is obtained by Markov chain Monte Carlo methods and new, powerful simulation techniques based on e.g. coupled Markov chains and simulated tempering is developed to improve the computational efficiency of the overall simulation...

  8. Testing earthquake source inversion methodologies

    KAUST Repository

    Page, Morgan T.

    2011-01-01

    Source Inversion Validation Workshop; Palm Springs, California, 11-12 September 2010; Nowadays earthquake source inversions are routinely performed after large earthquakes and represent a key connection between recorded seismic and geodetic data and the complex rupture process at depth. The resulting earthquake source models quantify the spatiotemporal evolution of ruptures. They are also used to provide a rapid assessment of the severity of an earthquake and to estimate losses. However, because of uncertainties in the data, assumed fault geometry and velocity structure, and chosen rupture parameterization, it is not clear which features of these source models are robust. Improved understanding of the uncertainty and reliability of earthquake source inversions will allow the scientific community to use the robust features of kinematic inversions to more thoroughly investigate the complexity of the rupture process and to better constrain other earthquakerelated computations, such as ground motion simulations and static stress change calculations.

  9. Parameter estimation and inverse problems

    CERN Document Server

    Aster, Richard C; Thurber, Clifford H

    2005-01-01

    Parameter Estimation and Inverse Problems primarily serves as a textbook for advanced undergraduate and introductory graduate courses. Class notes have been developed and reside on the World Wide Web for faciliting use and feedback by teaching colleagues. The authors'' treatment promotes an understanding of fundamental and practical issus associated with parameter fitting and inverse problems including basic theory of inverse problems, statistical issues, computational issues, and an understanding of how to analyze the success and limitations of solutions to these probles. The text is also a practical resource for general students and professional researchers, where techniques and concepts can be readily picked up on a chapter-by-chapter basis.Parameter Estimation and Inverse Problems is structured around a course at New Mexico Tech and is designed to be accessible to typical graduate students in the physical sciences who may not have an extensive mathematical background. It is accompanied by a Web site that...

  10. Proof of radiation exposure in the vicinity of Kruemmel power plant by chromosomal analysis of the population and by enhanced environmental radioactivity; Nachweis einer Strahlenbelastung beim Kernkraftwerk Kruemmel durch Chromosomenanalyse in der Bevoelkerung und durch erhoehte Umweltradioaktivitaet

    Energy Technology Data Exchange (ETDEWEB)

    Dannheim, B.; Heimers, A.; Schmitz-Feuerhake, I.; Schroeder, H. [Fachbereich 1, Arbeitsgruppe Medizinische Physik, Bremen Univ. (Germany)

    2001-07-01

    The leukaemia cluster in the proximity of the German boiling water reactor Kruemmel was detected by a local physician. 9 cases in children were registered in the period 1990-1996 which corresponds to 5.6 fold increase in the 5 km region around the plant. An incidence study conducted between 1984-93 showed an elevated rate of leukaemias also in adults. Because the supervising ministry had attested undisturbed operation of the plant and no conspiceous radioactivity had been noticed at that time, we started an independent investigation. Radiation exposures during the operation of the plant were proven by chromosome aberration studies in the population and by analyses of the environmental radioactivity. (orig.) [German] Das Leukaemiecluster in unmittelbarer Naehe zum Kernkraftwerk Kruemmel war durch einen einheimischen Arzt entdeckt worden. Im Zeitraum 1990 bis 1996 stieg die Anzahl bei Kindern auf 9 Faelle an, woraus sich eine Erhoehung um den Faktor 5,6 ableitet. Eine Inzidenzstudie, die fuer den Zeitraum 1984-93 ausgefuehrt wurde, zeigte auch fuer Erwachsene eine erhoehte Leukaemierate. Da die Aufsichtsbehoerde in Kiel einen einwandfreien Betrieb konstatierte und keinerlei Hinweis fuer erhoehte Kontaminationen in der Umgebung sah, fuehrten wir eine unabhaengige Untersuchung durch. Anhand von Chromosomenaberrationsstudien in der Bevoelkerung und durch Analysen von Umgebungsueberwachungsmessungen stellten wir eine Strahlenbelastung waehrend der Betriebszeit der Anlage fest. (orig.)

  11. mBAND Analysis of Late Chromosome Aberrations in Human Lymphocytes Induced by Gamma Rays and Fe Ions

    Science.gov (United States)

    Sunagawa, Mayumi; Zhang, Ye; Yeshitla, Samrawit; Kadhim, Munira; Wilson, Bobby; Wu, Honglu

    2014-01-01

    Chromosomal translocations and inversions are considered stable, and cells containing these types of chromosome aberrations can survive multiple cell divisions. An efficient method to detect an inversion is multi-color banding fluorescent in situ hybridization (mBAND) which allows identification of both inter- and intrachromosome aberrations simultaneously. Post irradiation, chromosome aberrations may also arise after multiple cell divisions as a result of genomic instability. To investigate the stable or late-arising chromosome aberrations induced after radiation exposure, we exposed human lymphocytes to gamma rays and Fe ions ex vivo, and cultured the cells for multiple generations. Chromosome aberrations were analyzed in cells collected at first mitosis and at several time intervals during the culture period post irradiation. With gamma irradiation, about half of the damages observed at first mitosis remained after 7 day- and 14 day- culture, suggesting the transmissibility of damages to the surviving progeny. Detailed analysis of chromosome break ends participating in exchanges revealed a greater fraction of break ends involved in intrachromosome aberrations in the 7- and 14-day samples in comparison to the fraction at first mitosis. In particular, simple inversions were found at 7 and 14 days, but not at the first mitosis, suggesting that some of the aberrations might be formed days post irradiation. In contrast, at the doses that produced similar frequencies of gamma-induced chromosome aberrations as observed at first mitosis, a significantly lower yield of aberrations remained at the same population doublings after Fe ion exposure. At these equitoxic doses, more complex type aberrations were observed for Fe ions, indicating that Fe ion-induced initial chromosome damages are more severe and may lead to cell death. Comparison between low and high doses of Fe ion irradiation in the induction of late damages will also be discussed.

  12. Uterine Inversion; A case report

    OpenAIRE

    C, Bouchikhi; H, Saadi; B, Fakhir; H, Chaara; H, Bouguern; A, Banani; Melhouf MA

    2008-01-01

    The puerperal uterine inversion is a rare and severe complication occurring in the third stage of labour. The mechanisms are not completely known. However, extrinsic factors such as oxytocic arrests after a prolonged labour, umbilical cord traction or abdominal expression are pointed. Other intrinsic factors such as primiparity, uterine hypotonia, various placental localizations, fundic myoma or short umbilical cord were also reported. The diagnosis of the uterine inversion is mainly supporte...

  13. -Colour Self-Inverse Compositions

    Indian Academy of Sciences (India)

    Geetika Narang; A K Agarwal

    2006-08-01

    MacMahon’s definition of self-inverse composition is extended to -colour self-inverse composition. This introduces four new sequences which satisfy the same recurrence relation with different initial conditions like the famous Fibonacci and Lucas sequences. For these new sequences explicit formulas, recurrence relations, generating functions and a summation formula are obtained. Two new binomial identities with combinatorial meaning are also given.

  14. Thermal measurements and inverse techniques

    CERN Document Server

    Orlande, Helcio RB; Maillet, Denis; Cotta, Renato M

    2011-01-01

    With its uncommon presentation of instructional material regarding mathematical modeling, measurements, and solution of inverse problems, Thermal Measurements and Inverse Techniques is a one-stop reference for those dealing with various aspects of heat transfer. Progress in mathematical modeling of complex industrial and environmental systems has enabled numerical simulations of most physical phenomena. In addition, recent advances in thermal instrumentation and heat transfer modeling have improved experimental procedures and indirect measurements for heat transfer research of both natural phe

  15. Escape Artists of the X Chromosome.

    Science.gov (United States)

    Balaton, Bradley P; Brown, Carolyn J

    2016-06-01

    Inactivation of one X chromosome in mammalian females achieves dosage compensation between XX females and XY males; however, over 15% of human X-linked genes continue to be expressed from the inactive X chromosome. New genomic methodologies have improved our identification and characterization of these escape genes, revealing the importance of DNA sequence, chromatin structure, and chromosome ultrastructure in regulating expression from an otherwise inactive chromosome. Study of these exceptions to the rule of silencing highlights the interconnectedness of chromatin and chromosome structure in X-chromosome inactivation (XCI). Recent advances also demonstrate the importance of these genes in sexually dimorphic disease risk, particularly cancer. PMID:27103486

  16. Adults with Chromosome 18 Abnormalities.

    Science.gov (United States)

    Soileau, Bridgette; Hasi, Minire; Sebold, Courtney; Hill, Annice; O'Donnell, Louise; Hale, Daniel E; Cody, Jannine D

    2015-08-01

    The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child. PMID:25403900

  17. Chromosome Studies in Patients with Polycythaemia Vera after Treatment with 32P

    International Nuclear Information System (INIS)

    The chromosomes of bone-marrow cells and blood lymphocytes of forty-six patients with polycythaemia vera were analysed to trace the sequence of events leading to the development of bone-marrow failure or 'leukaemia'. All except one of the patients had received radiophosphorus (32P). It might be expected that the yield of chromosomal aberrations of the two-break type (translocations etc.) from the low dose-rate beta radiation of 32P would be small. However, 'unstable' types of abnormality (dicentrics, fragments) and stable types (translocations, inversions, deletions) were observed in 6-25% of the blood lymphocytes; there was no evidence of clones of abnormal cells. In the majority of patients the bone marrow was predominantly normal diploid; occasional sporadic cells with 'stable' chromosomal abnormalities were seen in two-thirds of the cases, but 'unstable' aberrations were rare. In seven cases there were clones of cells characterised by deletions or translocations. All these chromosomal changes are probably radiation-induced. Clones of cells with a similar abnormality, an apparent deletion of one of the F-group chromosomes, were observed in the bone marrow in ten patients. Eight of these had received 32P and two busulphan. In two cases the clone appeared to develop after treatment. A similar anomaly has been reported in several cases of idiopathic sideroblastic anaemia who had not been irradiated. Progression into the leukaemic phase of the disease is associated in some cases with gross chromosomal abnormalities, such as shift of the stem line chromosome number and bizarre chromosome 'markers'. In other cases, some of whom have not been irradiated for several years, the chromosomal changes are less pronounced and may result from non-disjunctional gain of one or more chromosomes or chromosome loss. One case showed a step-by-step clonal evolution over a two-year period. None of the chromosomal abnormalities in the 'leukaemic' phase appear to be a direct result of

  18. Making chromosome abnormalities treatable conditions.

    Science.gov (United States)

    Cody, Jannine DeMars; Hale, Daniel Esten

    2015-09-01

    Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions. PMID:26351122

  19. Using Chromosomes to Teach Evolution: Chromosomal Rearrangements in Speciation Events.

    Science.gov (United States)

    Offner, Susan

    1994-01-01

    Uses diagrams to aid in discussing how the English map of the human chromosomes, published by Offner in 1993, can be used to illustrate some important questions in evolution, as well as give students a glimpse into some of the mechanisms underlying evolutionary change. (ZWH)

  20. Multidimensional NMR inversion without Kronecker products: Multilinear inversion

    Science.gov (United States)

    Medellín, David; Ravi, Vivek R.; Torres-Verdín, Carlos

    2016-08-01

    Multidimensional NMR inversion using Kronecker products poses several challenges. First, kernel compression is only possible when the kernel matrices are separable, and in recent years, there has been an increasing interest in NMR sequences with non-separable kernels. Second, in three or more dimensions, the singular value decomposition is not unique; therefore kernel compression is not well-defined for higher dimensions. Without kernel compression, the Kronecker product yields matrices that require large amounts of memory, making the inversion intractable for personal computers. Finally, incorporating arbitrary regularization terms is not possible using the Lawson-Hanson (LH) or the Butler-Reeds-Dawson (BRD) algorithms. We develop a minimization-based inversion method that circumvents the above problems by using multilinear forms to perform multidimensional NMR inversion without using kernel compression or Kronecker products. The new method is memory efficient, requiring less than 0.1% of the memory required by the LH or BRD methods. It can also be extended to arbitrary dimensions and adapted to include non-separable kernels, linear constraints, and arbitrary regularization terms. Additionally, it is easy to implement because only a cost function and its first derivative are required to perform the inversion.

  1. Inversion polymorphism in populations of Drosophila subobscura from urban and non-urban environments

    Directory of Open Access Journals (Sweden)

    Kenig B.

    2010-01-01

    Full Text Available Populations of Drosophila subobscura from the urban area of Belgrade and from the locality, Deliblato, which is not under strong anthropogenic influence, were studied with the aim to characterize and compare their genetic structure by examining chromosomal inversion polymorphism. Additional analysis and comparison of this type of polymorphism with several other populations from different habitats in the central Balkans, was done. The obtained results indicate higher heterozygosity in the population from Belgrade. Despite being ecologically marginal and under strong and complex influences, this population did not show a decline in the number of inversions and it is not highly differentiated compared to the referent populations. .

  2. Extensive Pericentric Rearrangements in the Bread Wheat (Triticum aestivum L.) Genotype "Chinese Spring" Revealed from Chromosome Shotgun Sequence Data

    Czech Academy of Sciences Publication Activity Database

    Ma, J.; Stiller, J.; Wei, Y.M.; Zheng, Y.L.; Devos, K. M.; Doležel, Jaroslav; Liu, C.L.

    2014-01-01

    Roč. 6, č. 11 (2014), s. 3039-3048. ISSN 1759-6653 R&D Projects: GA ČR GBP501/12/G090 Institutional support: RVO:61389030 Keywords : chromosomal rearrangement * comparative genomics * pericentric inversion Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.229, year: 2014

  3. Characterization of chromosome structures of Falconinae (Falconidae, Falconiformes, Aves) by chromosome painting and delineation of chromosome rearrangements during their differentiation

    OpenAIRE

    Nishida, Chizuko; Ishijima, Junko; KOSAKA, Ayumi; Tanabe, Hideyuki; Habermann, Felix A.; Griffin, Darren K.; MATSHUDA, Yoichi; 秀之, 田辺

    2008-01-01

    Karyotypes of most bird species are characterized by around 2n = 80 chromosomes, comprising 7–10 pairs of large- and medium-sized macrochromosomes including sex chromosomes and numerous morphologically indistinguishable microchromosomes. The Falconinae of the Falconiformes has a different karyotype from the typical avian karyotype in low chromosome numbers, little size difference between macrochromosomes and a smaller number of microchromosomes. To characterize chromosome structures of Falcon...

  4. Characterization of chromosome structures of Falconinae (Falconidae, Falconiformes, Aves) by chromosome painting and delineation of chromosome rearrangements during their differentiation

    OpenAIRE

    Nishida, Chizuko; Ishijima, Junko; KOSAKA, Ayumi; Tanabe, Hideyuki; Habermann, Felix A.; Griffin, Darren K.; Matsuda, Yoichi

    2008-01-01

    Karyotypes of most bird species are characterized by around 2n = 80 chromosomes, comprising 7Y10 pairs of large- and medium-sized macrochromosomes including sex chromosomes and numerous morphologically indistinguishable microchromosomes. The Falconinae of the Falconiformes has a different karyotype from the typical avian karyotype in low chromosome numbers, little size difference between macrochromosomes and a smaller number of microchromosomes. To characterize chromosome structures of Falcon...

  5. Increased low-level chromosome 21 mosaicism in older individuals with Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jenkins, E.C.; Genovese, M.; Ye, Ling Ling [New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States)] [and others

    1997-01-20

    During a study of the familial aggregation of Down syndrome (DS) and Alzheimer disease (AD), we observed an increase in mosaicism for disomy 21 in older individuals with DS. In a total of 213 DS subjects who were studied cytogenetically, only 1 of 121 (0.8%) under age 45 exhibited mosaicism, while 14 of 92 (15.2%) who were age 45 or older had mosaicism. Mosaicism in this report connotes {open_quotes}low-level{close_quotes} mosaicism, where all 15 individuals exhibited a modal chromosome number of 47 (i.e., trisomy 21), and at least two cells lacked one of the three chromosomes 21. The occurrence of aneuploidy for chromosomes 15, 17, and X increased with age, and an inverse correlation between chromosome loss and size was also observed. Because older individuals had not been karyotyped at birth, it was not possible to determine whether our observations were due to either increased survival of mosaic individuals or accumulation of disomy 21 cells via increased chromosome loss with aging of the trisomy 21 individual. Using a modeling approach involving life table methods, we obtained results that suggested acquired mosaicism as the predominant mechanism to explain our findings. These results support the hypothesis that as individuals with DS age, there is an increased loss of chromosome 21. 30 refs., 5 tabs.

  6. The phylogeny of howler monkeys (Alouatta, Platyrrhini): reconstruction by multicolor cross-species chromosome painting.

    Science.gov (United States)

    de Oliveira, Edivaldo H C; Neusser, Michaela; Figueiredo, Wilsea B; Nagamachi, Cleusa; Pieczarka, Julio Cesar; Sbalqueiro, Ives J; Wienberg, Johannes; Müller, Stefan

    2002-01-01

    We performed multidirectional chromosome painting in a comparative cytogenetic study of the three howler monkey species Alouatta fusca, A. caraya and A. seniculus macconnelli (Atelinae, Platyrrhini) in order to reconstruct phylogenetic relationships within this genus. Comparative genome maps between these species were established by multicolor fluorescence in-situ hybridization (FISH) employing human, Saguinus oedipus and Lagothrix lagothricha chromosome-specific probes. The three species included in this study and previously analyzed howler monkey species were subjected to a phylogenetic analysis on the basis of a data matrix comprised of 98 discrete molecular cytogenetic characters. The results revealed that howler monkeys represent the genus with the most extensive karyotype diversity within Platyrrhini so far analyzed with high levels of intraspecific chromosomal variability. Two different multiple sex chromosome systems were identified. The phylogenetic analysis indicated that Alouatta is a monophyletic clade which can be derived from a proposed ancestral Atelinae karyotype of 2n = 62 chromosomes by a chromosome fusion, a fission, a Y-autosomal translocation and a pericentric inversion. Following these suggestions, the genus Alouatta can be divided into two distinct species groups: the first includes A. caraya and A. belzebul, the second A. s. macconnelli, A. sara, A. s. arctoidea and A. fusca. PMID:12575795

  7. Frequency of chromosomal aberrations in a group of patients carriers of gonosomopathies

    International Nuclear Information System (INIS)

    This paper was aimed at determining the frequency of chromosomal aberrations in a group of patients carriers of gonosomopathies and at relating in each case the meaning of the different chromosomal aberrations found to the patients' clinical diagnosis. 656 patients with presumptive diagnosis of gonosomopathies from different hospital institutions of the country that were received at the molecular genetics laboratory of Hermanos Ameijeiras Clinical and Surgical Hospital from 1982 to 2001, were studied. Of the total of patients with presumptive diagnosis of gonosomopathies, in 32.7 % (215/656) the clinical diagnosis was confirmed by the cytogenetic study. The chromosomal study was conducted by using G band techniques. The chromosomal rearrangements found were classified into 4 groups. The group of numerical gonosomopathies showed the highest frequency with 110 patients, accounting for 51 % of the total. It was followed by the group of numerical and structural alterations (mosaics) with 59 patients (27.0), the inversions of sex with 24 patients (12.0), and the group of structural gonosomopathies with 22 patients (10.0) The most common chromosomal aberrations were the numerical gonosomopathies (Turner and Klinefelter's syndrome). The chromosomal study in these patients is a very important diagnostic value indicator for the therapeutical conduct to be followed in every case

  8. Inter- and Intra-Chromosomal Aberrations in Human Cells Exposed in vitro to High and Low LET Radiations

    Science.gov (United States)

    Hada, M.; Wilkins, R.; Saganti, P. B.; Gersey, B.; Cucinotta, F. A.; Wu, H.

    2006-01-01

    Energetic heavy ions pose a health risk to astronauts in extended ISS and future Mars missions. High-LET heavy ions are particularly effective in causing various biological effects including cell inactivation, genetic mutations and cancer induction. Most of these biological endpoints are closely related to chromosomal damage, which can be utilized as a biomarker for radiation insults. Previously, we had studied chromosome aberrations in human lymphocytes and fibroblasts induced by both low- and high-LET radiation using FISH and multicolor fluorescence in situ hybridization (mFISH) techniques. In this study, we exposed human epithelial cells in vitro to gamma rays and energetic particles of varying types and energies and dose rates, and analyzed chromosomal damages using the multicolor banding in situ hybridization (mBAND) procedure. Confluent human epithelial cells (CH184B5F5/M10) were exposed to energetic heavy ions at NASA Space Radiation Laboratory (NSRL) at the Brookhaven National Laboratory, high energy neutron at the Los Alamos Nuclear Science Center (LANSCE) or Cs-137-gamma radiation source at the University of Texas, MD Anderson Cancer Center. After colcemid and Calyculin A treatment, cells were fixed and painted with XCyte3 mBAND kit (MetaSystems) and chromosome aberrations were analyzed with mBAND analysis system (MetaSystems). With this technique, individually painted chromosomal bands on one chromosome allowed the identification of interchromosomal aberrations (translocation to unpainted chromosomes) and intrachromosomal aberrations (inversions and deletions within a single painted chromosome). The results of the mBAND study showed a higher ratio of inversion involved with interchromosomal exchange in heavy ions compared to -ray irradiation. Analysis of chromosome aberrations using mBAND has the potential to provide useful information on human cell response to space-like radiation.

  9. 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

  10. Global inversion for anisotropy during full-waveform inversion

    Science.gov (United States)

    Debens, H. A.; Warner, M.; Umpleby, A.

    2015-12-01

    Full-waveform inversion (FWI) is a powerful tool for quantitative estimation of high-resolution high-fidelity models of subsurface seismic parameters, typically P-wave velocity. The solution to FWI's posed nonlinear inverse problem is obtained via an iterative series of linearized local updates to a start model, assuming this model lies within the basin of attraction to the global minimum. Thanks to many successful published applications to three-dimensional (3D) field datasets, its advance has been rapid and driven in large-part by the oil and gas industry. The consideration of seismic anisotropy during FWI is of vital importance, as it holds influence over both the kinematics and dynamics of seismic waveforms. If not appropriately taken into account then inadequacies in the anisotropy model are likely to manifest as significant error in the recovered velocity model. Conventionally, anisotropic FWI employs either an a priori anisotropy model, held fixed during FWI, or it uses a multi-parameter local inversion scheme to recover the anisotropy as part of the FWI; both of these methods can be problematic. Constructing an anisotropy model prior to FWI often involves intensive (and hence expensive) iterative procedures, such as travel-time tomography or moveout velocity analysis. On the other hand, introducing multiple parameters to FWI itself increases the complexity of what is already an underdetermined inverse problem. We propose that global rather than local FWI can be used to recover the long-wavelength acoustic anisotropy model, and that this can then be followed by more-conventional local FWI to recover the detailed model. We validate this approach using a full 3D field dataset, demonstrating that it avoids problems associated to crosstalk that can bedevil local inversion schemes, and reconciles well with in situ borehole measurements. Although our approach includes a global inversion for anisotropy, it is nonetheless affordable and practical for 3D field data.

  11. Mathematical glimpse on the Y chromosome degeneration

    Science.gov (United States)

    Lobo, M. P.

    2006-04-01

    The Y chromosomes are genetically degenerate and do not recombine with their matching partners X. Non-recombination of XY pairs has been pointed out as the key factor for the degeneration of the Y chromosome. The aim here is to show that there is a mathematical asymmetry in sex chromosomes which leads to the degeneration of Y chromosomes even in the absence of XX and XY recombination. A model for sex-chromosome evolution in a stationary regime is proposed. The consequences of their asymmetry are analyzed and lead us to a couple of conclusions. First, Y chromosome degeneration shows up sqrt{2} more often than X chromosome degeneration. Second, if nature prohibits female mortalities from beeing exactly 50%, then Y chromosome degeneration is inevitable.

  12. CHROMOSOMAL MULTIPLICITY IN BURKHOLDERIA CEPACIA

    Science.gov (United States)

    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 ...

  13. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    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...

  14. Chromosome Territory Modeller and Viewer.

    Science.gov (United States)

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

    2016-01-01

    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. PMID:27505434

  15. Chromosome Territory Modeller and Viewer

    Science.gov (United States)

    Idziak-Helmcke, Dominika; Robaszkiewicz, Ewa; Hasterok, Robert

    2016-01-01

    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. PMID:27505434

  16. Ankle Bracing, Plantar-Flexion Angle, and Ankle Muscle Latencies During Inversion Stress in Healthy Participants

    OpenAIRE

    Kernozek, Thomas; Durall, Christopher J; Friske, Allison; Mussallem, Matthew

    2008-01-01

    Context: Ankle braces may enhance ankle joint proprioception, which in turn may affect reflexive ankle muscle activity during a perturbation. Despite the common occurrence of plantar-flexion inversion ankle injuries, authors of previous studies of ankle muscle latencies have focused on inversion stresses only.

  17. Karyotypic Evolution in Malagasy Flying Foxes (Pteropodidae, Chiroptera) and Their Hipposiderid Relatives as Determined by Comparative Chromosome Painting.

    Science.gov (United States)

    Richards, Leigh R; Rambau, Ramugondo V; Goodman, Steven M; Taylor, Peter J; Schoeman, M Corrie; Yang, Fengtang; Lamb, Jennifer M

    2016-01-01

    Pteropodidae and Hipposideridae are 2 of the 9 chiropteran families that occur on Madagascar. Despite major advancements in the systematic study of the island's bat fauna, few karyotypic data exist for endemic species. We utilized G- and C-banding in combination with chromosome painting with Myotismyotis probes to establish a genome-wide homology among Malagasy species belonging to the families Pteropodidae (Pteropus rufus 2n = 38; Rousettus madagascariensis, 2n = 36), Hipposideridae (Hipposideros commersoni s.s., 2n = 52), and a single South African representative of the Rhinolophidae (Rhinolophus clivosus, 2n = 58). Painting probes of M. myotis detected 26, 28, 28, and 29 regions of homology in R. madagascariensis, P. rufus, H. commersoni s.s, and R. clivosus, respectively. Translocations, pericentric inversions, and heterochromatin additions were responsible for karyotypic differences amongst the Malagasy pteropodids. Comparative chromosome painting revealed a novel pericentric inversion on P. rufus chromosome 4. Chromosomal characters suggest a close evolutionary relationship between Rousettus and Pteropus. H. commersoni s.s. shared several chromosomal characters with extralimital congeners but did not exhibit 2 chromosomal synapomorphies proposed for Hipposideridae. This study provides further insight into the ancestral karyotypes of pteropodid and hipposiderid bats and corroborates certain molecular phylogenetic hypotheses. PMID:27256929

  18. Multicolor spectral karyotyping of human chromosomes.

    Science.gov (United States)

    Schröck, E; du Manoir, S; Veldman, T; Schoell, B; Wienberg, J; Ferguson-Smith, M A; Ning, Y; Ledbetter, D H; Bar-Am, I; Soenksen, D; Garini, Y; Ried, T

    1996-07-26

    The simultaneous and unequivocal discernment of all human chromosomes in different colors would be of significant clinical and biologic importance. Whole-genome scanning by spectral karyotyping allowed instantaneous visualization of defined emission spectra for each human chromosome after fluorescence in situ hybridization. By means of computer separation (classification) of spectra, spectrally overlapping chromosome-specific DNA probes could be resolved, and all human chromosomes were simultaneously identified. PMID:8662537

  19. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

    OpenAIRE

    L. Y. Pylyp; L. A. Spinenko; V. D. Zukin; N. M. Bilko

    2013-01-01

    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 intrac...

  20. Universal spectrum for DNA base C+G frequency distribution in Human chromosomes 1 to 24

    CERN Document Server

    Selvam, A M

    2007-01-01

    Power spectra of human DNA base C+G frequency distribution in all available contiguous sections exhibit the universal inverse power law form of the statistical normal distribution for the 24 chromosomes. Inverse power law form for power spectra of space-time fluctuations is generic to dynamical systems in nature and indicate long-range space-time correlations. A recently developed general systems theory predicts the observed non-local connections as intrinsic to quantumlike chaos governing space-time fluctuations of dynamical systems. The model predicts the following. (1) The quasiperiodic Penrose tiling pattern for the nested coiled structure of the DNA molecule in the chromosome resulting in maximum packing efficiency. (2) The DNA molecule functions as a unified whole fuzzy logic network with ordered two-way signal transmission between the coding and non-coding regions. Recent studies indicate influence of non-coding regions on functions of coding regions in the DNA molecule.

  1. Chromosome Aberrations by Heavy Ions

    Science.gov (United States)

    Ballarini, Francesca; Ottolenghi, Andrea

    It is well known that mammalian cells exposed to ionizing radiation can show different types of chromosome aberrations (CAs) including dicentrics, translocations, rings, deletions and complex exchanges. Chromosome aberrations are a particularly relevant endpoint in radiobiology, because they play a fundamental role in the pathways leading either to cell death, or to cell conversion to malignancy. In particular, reciprocal translocations involving pairs of specific genes are strongly correlated (and probably also causally-related) with specific tumour types; a typical example is the BCR-ABL translocation for Chronic Myeloid Leukaemia. Furthermore, aberrations can be used for applications in biodosimetry and more generally as biomarkers of exposure and risk, that is the case for cancer patients monitored during Carbon-ion therapy and astronauts exposed to space radiation. Indeed hadron therapy and astronauts' exposure to space radiation represent two of the few scenarios where human beings can be exposed to heavy ions. After a brief introduction on the main general features of chromosome aberrations, in this work we will address key aspects of the current knowledge on chromosome aberration induction, both from an experimental and from a theoretical point of view. More specifically, in vitro data will be summarized and discussed, outlining important issues such as the role of interphase death/mitotic delay and that of complex-exchange scoring. Some available in vivo data on cancer patients and astronauts will be also reported, together with possible interpretation problems. Finally, two of the few available models of chromosome aberration induction by ionizing radiation (including heavy ions) will be described and compared, focusing on the different assumptions adopted by the authors and on how these models can deal with heavy ions.

  2. A case of trisomy of chromosome 15

    OpenAIRE

    Coldwell, S; Fitzgerald, B.; Semmens, J.M.; Ede, R; Bateman, C

    1981-01-01

    We describe a case of trisomy of chromosome 15 in an infant who presented at birth with numerous abnormalities. As far as we are aware this chromosomal abnormality has not been described before. On the basis of this one case there appear to be no features which are specific to this chromosomal abnormality.

  3. Paclitaxel stimulates chromosomal fusion and instability in cells with dysfunctional telomeres: Implication in multinucleation and chemosensitization

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jeong-Eun [Division of Radiation Cancer Research, Korea Institute of Radiological and Medical Sciences, Seoul 139-706 (Korea, Republic of); Woo, Seon Rang [Division of Radiation Cancer Research, Korea Institute of Radiological and Medical Sciences, Seoul 139-706 (Korea, Republic of); Department of Biochemistry, College of Medicine, Korea University, Seoul 136-705 (Korea, Republic of); Kang, Chang-Mo [Laboratory of Cytogenetics and Tissue Regeneration, Korea Institute of Radiological and Medical Sciences, Seoul 139-706 (Korea, Republic of); Juhn, Kyoung-Mi; Ju, Yeun-Jin; Shin, Hyun-Jin; Joo, Hyun-Yoo; Park, Eun Ran; Park, In-chul; Hong, Sung Hee; Hwang, Sang-Gu [Division of Radiation Cancer Research, Korea Institute of Radiological and Medical Sciences, Seoul 139-706 (Korea, Republic of); Lee, Jung-Kee [Department of Life Science and Genetic Engineering, Paichai University, Daejeon 302-735 (Korea, Republic of); Kim, Hae Kwon [Department of Biotechnology, Seoul Woman' s University, Seoul 139-774 (Korea, Republic of); Cho, Myung-Haing [Laboratory of Toxicology, College of Veterinary Medicine, Seoul National University, Seoul 151-74-2 (Korea, Republic of); Park, Gil Hong [Department of Biochemistry, College of Medicine, Korea University, Seoul 136-705 (Korea, Republic of); Lee, Kee-Ho, E-mail: khlee@kirams.re.kr [Division of Radiation Cancer Research, Korea Institute of Radiological and Medical Sciences, Seoul 139-706 (Korea, Republic of)

    2011-01-14

    Research highlights: {yields} Paclitaxel serves as a stimulator of chromosomal fusion in cells in which telomeres are dysfunctional. {yields} Typical fusions involve p-arms, but paclitaxel-induced fusions occur between both q- and p-arms. {yields} Paclitaxel-stimulated fusions in cells in which telomeres are dysfunctional evoke prolonged G2/M cell cycle arrest and delay multinucleation. {yields} Upon telomere erosion, paclitaxel promotes chromosomal instability and subsequent apoptosis. {yields} Chromosomal fusion enhances paclitaxel chemosensitivity under telomere dysfunction. -- Abstract: The anticancer effect of paclitaxel is attributable principally to irreversible promotion of microtubule stabilization and is hampered upon development of chemoresistance by tumor cells. Telomere shortening, and eventual telomere erosion, evoke chromosomal instability, resulting in particular cellular responses. Using telomerase-deficient cells derived from mTREC-/-p53-/- mice, here we show that, upon telomere erosion, paclitaxel propagates chromosomal instability by stimulating chromosomal end-to-end fusions and delaying the development of multinucleation. The end-to-end fusions involve both the p- and q-arms in cells in which telomeres are dysfunctional. Paclitaxel-induced chromosomal fusions were accompanied by prolonged G2/M cell cycle arrest, delayed multinucleation, and apoptosis. Telomere dysfunctional cells with mutlinucleation eventually underwent apoptosis. Thus, as telomere erosion proceeds, paclitaxel stimulates chromosomal fusion and instability, and both apoptosis and chemosensitization eventually develop.

  4. Optimization and geophysical inverse problems

    Energy Technology Data Exchange (ETDEWEB)

    Barhen, J.; Berryman, J.G.; Borcea, L.; Dennis, J.; de Groot-Hedlin, C.; Gilbert, F.; Gill, P.; Heinkenschloss, M.; Johnson, L.; McEvilly, T.; More, J.; Newman, G.; Oldenburg, D.; Parker, P.; Porto, B.; Sen, M.; Torczon, V.; Vasco, D.; Woodward, N.B.

    2000-10-01

    A fundamental part of geophysics is to make inferences about the interior of the earth on the basis of data collected at or near the surface of the earth. In almost all cases these measured data are only indirectly related to the properties of the earth that are of interest, so an inverse problem must be solved in order to obtain estimates of the physical properties within the earth. In February of 1999 the U.S. Department of Energy sponsored a workshop that was intended to examine the methods currently being used to solve geophysical inverse problems and to consider what new approaches should be explored in the future. The interdisciplinary area between inverse problems in geophysics and optimization methods in mathematics was specifically targeted as one where an interchange of ideas was likely to be fruitful. Thus about half of the participants were actively involved in solving geophysical inverse problems and about half were actively involved in research on general optimization methods. This report presents some of the topics that were explored at the workshop and the conclusions that were reached. In general, the objective of a geophysical inverse problem is to find an earth model, described by a set of physical parameters, that is consistent with the observational data. It is usually assumed that the forward problem, that of calculating simulated data for an earth model, is well enough understood so that reasonably accurate synthetic data can be generated for an arbitrary model. The inverse problem is then posed as an optimization problem, where the function to be optimized is variously called the objective function, misfit function, or fitness function. The objective function is typically some measure of the difference between observational data and synthetic data calculated for a trial model. However, because of incomplete and inaccurate data, the objective function often incorporates some additional form of regularization, such as a measure of smoothness

  5. Optimization for nonlinear inverse problem

    International Nuclear Information System (INIS)

    The nonlinear inversion of geophysical data in general does not yield a unique solution, but a single model, representing the investigated field, is preferred for an easy geological interpretation of the observations. The analyzed region is constituted by a number of sub-regions where the multi-valued nonlinear inversion is applied, which leads to a multi-valued solution. Therefore, combining the values of the solution in each sub-region, many acceptable models are obtained for the entire region and this complicates the geological interpretation of geophysical investigations. In this paper are presented new methodologies, capable to select one model, among all acceptable ones, that satisfies different criteria of smoothness in the explored space of solutions. In this work we focus on the non-linear inversion of surface waves dispersion curves, which gives structural models of shear-wave velocity versus depth, but the basic concepts have a general validity. (author)

  6. The Transmuted Inverse Exponential Distribution

    Directory of Open Access Journals (Sweden)

    Pelumi Oguntunde

    2014-12-01

    Full Text Available This article introduces a two-parameter probability model which represents another generalization of the Inverse Exponential distribution by using the quadratic rank transmuted map. The proposed model is named Transmuted Inverse Exponential (TIE distribution and its statistical properties are systematically studied. We provide explicit expressions for its moments, moment generating function, quantile function, reliability function and hazard function. We estimate the parameters of the TIE distribution using the method of maximum likelihood estimation (MLE. The hazard function of the model has an inverted bathtub shape and we propose the usefulness of the TIE distribution in modeling breast cancer and bladder cancer data sets.

  7. Inverse Interval Matrix: A Survey

    Czech Academy of Sciences Publication Activity Database

    Rohn, Jiří; Farhadsefat, R.

    2011-01-01

    Roč. 22, - (2011), s. 704-719. E-ISSN 1081-3810 R&D Projects: GA ČR GA201/09/1957; GA ČR GC201/08/J020 Institutional research plan: CEZ:AV0Z10300504 Keywords : interval matrix * inverse interval matrix * NP-hardness * enclosure * unit midpoint * inverse sign stability * nonnegative invertibility * absolute value equation * algorithm Subject RIV: BA - General Math ematics Impact factor: 0.808, year: 2010 http://www. math .technion.ac.il/iic/ela/ela-articles/articles/vol22_pp704-719.pdf

  8. -Dimensional Fractional Lagrange's Inversion Theorem

    Directory of Open Access Journals (Sweden)

    F. A. Abd El-Salam

    2013-01-01

    Full Text Available Using Riemann-Liouville fractional differential operator, a fractional extension of the Lagrange inversion theorem and related formulas are developed. The required basic definitions, lemmas, and theorems in the fractional calculus are presented. A fractional form of Lagrange's expansion for one implicitly defined independent variable is obtained. Then, a fractional version of Lagrange's expansion in more than one unknown function is generalized. For extending the treatment in higher dimensions, some relevant vectors and tensors definitions and notations are presented. A fractional Taylor expansion of a function of -dimensional polyadics is derived. A fractional -dimensional Lagrange inversion theorem is proved.

  9. Convergent evolution of chromosomal sex-determining regions in the animal and fungal kingdoms.

    Directory of Open Access Journals (Sweden)

    James A Fraser

    2004-12-01

    Full Text Available Sexual identity is governed by sex chromosomes in plants and animals, and by mating type (MAT loci in fungi. Comparative analysis of the MAT locus from a species cluster of the human fungal pathogen Cryptococcus revealed sequential evolutionary events that fashioned this large, highly unusual region. We hypothesize that MAT evolved via four main steps, beginning with acquisition of genes into two unlinked sex-determining regions, forming independent gene clusters that then fused via chromosomal translocation. A transitional tripolar intermediate state then converted to a bipolar system via gene conversion or recombination between the linked and unlinked sex-determining regions. MAT was subsequently subjected to intra- and interallelic gene conversion and inversions that suppress recombination. These events resemble those that shaped mammalian sex chromosomes, illustrating convergent evolution in sex-determining structures in the animal and fungal kingdoms.

  10. Convergent Evolution of Chromosomal Sex-Determining Regions in the Animal and Fungal Kingdoms

    Directory of Open Access Journals (Sweden)

    Fraser James A

    2004-01-01

    Full Text Available Sexual identity is governed by sex chromosomes in plants and animals, and by mating type (MAT loci in fungi. Comparative analysis of the MAT locus from a species cluster of the human fungal pathogen Cryptococcus revealed sequential evolutionary events that fashioned this large, highly unusual region. We hypothesize that MAT evolved via four main steps, beginning with acquisition of genes into two unlinked sex-determining regions, forming independent gene clusters that then fused via chromosomal translocation. A transitional tripolar intermediate state then converted to a bipolar system via gene conversion or recombination between the linked and unlinked sex-determining regions. MAT was subsequently subjected to intra- and interallelic gene conversion and inversions that suppress recombination. These events resemble those that shaped mammalian sex chromosomes, illustrating convergent evolution in sex-determining structures in the animal and fungal kingdoms.

  11. Inverse problems Tikhonov theory and algorithms

    CERN Document Server

    Ito, Kazufumi

    2014-01-01

    Inverse problems arise in practical applications whenever one needs to deduce unknowns from observables. This monograph is a valuable contribution to the highly topical field of computational inverse problems. Both mathematical theory and numerical algorithms for model-based inverse problems are discussed in detail. The mathematical theory focuses on nonsmooth Tikhonov regularization for linear and nonlinear inverse problems. The computational methods include nonsmooth optimization algorithms, direct inversion methods and uncertainty quantification via Bayesian inference. The book offers a c

  12. Evolutionary trends in the family Curimatidae (Characiformes): inferences from chromosome banding.

    Science.gov (United States)

    Sampaio, Tatiane Ramos; Pires, Larissa Bettin; Venturelli, Natália Bortolazzi; Usso, Mariana Campaner; da Rosa, Renata; Dias, Ana Lúcia

    2016-01-01

    The family Curimatidae is a fish group usually considered chromosomally conserved in their diploid number. However, some studies show small changes in the karyotype microstructure, and the presence of B chromosomes, indicating a chromosomal diversification within the group, even if structural changes in the karyotypes are not visible. Few studies associate this trait with an evolutionary pattern within the family. This study aimed to characterize the karyotype, nucleolus organizer regions (NORs), and heterochromatin distribution of six species of Curimatidae of the genera Cyphocharax Fowler, 1906 and Steindachnerina Fowler, 1906: Cyphocharax voga (Hensel, 1870), Cyphocharax spilotus (Vari, 1987), Cyphocharax saladensis (Meinken, 1933), Cyphocharax modestus (Fernández-Yépez, 1948), Steindachnerina biornata (Braga et Azpelicueta, 1987) and Steindachnerina insculpta (Fernández-Yépez, 1948) and contribute data to a better understanding of the mechanisms involved in the chromosomal evolution of this group of fish. All specimens had 2n=54, m-sm, and B microchromosomes. Five species exhibited single NORs, except for Steindachnerina biornata, which showed a multiple pattern of ribosomal sites. NORs were chromomycin A3 positive (CMA3 (+)) and 4'-6-diamino-2-phenylindole (DAPI(-)) negative, exhibiting differences in the pair and chromosomal location of each individual of the species. FISH with 5S rDNA probe revealed sites in the pericentrometic position of a pair of chromosomes of five species. However, another site was detected on a metacentric chromosome of Cyphocharax spilotus. Heterochromatin distributed both in the pericentromeric and some terminal regions was revealed to be CMA3 (+)/DAPI(-). These data associated with the previously existing ones confirm that, although Curimatidae have a very conservative karyotype macrostructure, NORs and heterochromatin variability are caused by mechanisms of chromosome alterations, such as translocations and/or inversions

  13. Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality

    International Nuclear Information System (INIS)

    ECG-gated non-enhanced balanced steady-state free precession (bSSFP) MR angiography requires neither breath-holding nor administration of contrast material. To investigate the image quality of free-breathing ECG-gated non-enhanced bSSFP MR angiography of renal arteries in children. Fourteen boys and seven girls (mean age, 9.7 years; range, 7 weeks-17 years) with no history of renovascular disease were included. MRI was performed at 1.5 T. Subjective image quality of axial and coronal maximum-intensity-projection reconstructions of four segments (I, aorta and renal artery ostium; II, main renal artery; III, segmental branches; IV, intrarenal vessels) was evaluated using a 4-point scale (4 = excellent, 3 = good, 2 = acceptable, 1 = non-diagnostic). Image quality was excellent for segments I (mean ± SD, 3.9 ± 0.3) and II (4.0 ± 0.1), good for segment III (3.4 ± 0.9) and acceptable for segment IV (2.3 ± 1.1). Mean image quality did not differ between sedated and non-sedated children. bSSFP MR angiography enables visualisation of renal arteries in children. (orig.)

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

    Directory of Open Access Journals (Sweden)

    Wen Ying

    2010-07-01

    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

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

    OpenAIRE

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

    1994-01-01

    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 ...

  16. Development of a biological dosimeter for translocation scoring based on two-color fluorescence in situ hybridization of chromosome subsets

    International Nuclear Information System (INIS)

    Recently fluorescence in situ hybridization protocols have been developed which allow the paining of individual chromosomes using DNA-libraries from sorted human chromosomes. This approach has the particular advantage that radiation induced chromosome translocations can be easily detected, if chromosomes of distinctly different colors take part in the translocation event. To enhance the sensitivity of this approach two metaphase chromosome subsets A and B (A: chromosome 1, 2, 4, 8, 16; B: 3, 5, 9, 10, 13) were simultaneously painted in green and red color. Counterstaining of the chromosomes with DAPI resulted in a third subset which exhibited blue fluorescence only. Green-red, green-blue and red-blue translocation chromosomes could be easily detected after irradiation of lymphocyte cultures with 137Cs-γ-rays. Analyses of painted chromosomes can be combined with conventional GTG-banding analyses. This new biological dosimeter should become useful to monitor both long term effects of single irradiation events and the cumulative effects of multiple or chronic irradiation exposure. In contrast to translocation scoring based on the analysis of banded chromosomes, this new approach has the particular advantage that a rapid, automated scoring of translocations can now be envisaged. (author)

  17. Increased recombinant protein production owing to expanded opportunities for vector integration in high chromosome number Chinese hamster ovary cells.

    Science.gov (United States)

    Yamano, Noriko; Takahashi, Mai; Ali Haghparast, Seyed Mohammad; Onitsuka, Masayoshi; Kumamoto, Toshitaka; Frank, Jana; Omasa, Takeshi

    2016-08-01

    Chromosomal instability is a characteristic of Chinese hamster ovary (CHO) cells. Cultures of these cells gradually develop heterogeneity even if established from a single cell clone. We isolated cells containing different numbers of chromosomes from a CHO-DG44-based human granulocyte-macrophage colony stimulating factor (hGM-CSF)-producing cell line and found that high chromosome number cells showed higher hGM-CSF productivity. Therefore, we focused on the relationship between chromosome aneuploidy of CHO cells and high recombinant protein-producing cell lines. Distribution and stability of chromosomes were examined in CHO-DG44 cells, and two cell lines expressing different numbers of chromosomes were isolated from the original CHO-DG44 cell line to investigate the effect of aneuploid cells on recombinant protein production. Both cell lines were stably transfected with a vector that expresses immunoglobulin G3 (IgG3), and specific antibody production rates were compared. Cells containing more than 30 chromosomes had higher specific antibody production rates than those with normal chromosome number. Single cell analysis of enhanced green fluorescent protein (Egfp)-gene transfected cells revealed that increased GFP expression was relative to the number of gene integration sites rather than the difference in chromosome numbers or vector locations. Our results suggest that CHO cells with high numbers of chromosomes contain more sites for vector integration, a characteristic that could be advantageous in biopharmaceutical production. PMID:26850366

  18. T-linker-specific ligation PCR (T-linker PCR): an advanced PCR technique for chromosome walking or for isolation of tagged DNA ends

    OpenAIRE

    Yuanxin, Yan; Chengcai, An; Li, Li; Jiayu, Gu; Guihong, Tan; Zhangliang, Chen

    2003-01-01

    Dozens of PCR-based methods are available for chromosome walking from a known sequence to an unknown region. These methods are of three types: inverse PCR, ligation-mediated PCR and randomly primed PCR. However, none of them has been generally applied for this purpose, because they are either difficult or inefficient. Here we describe a simple and efficient PCR strategy—T-linker-specific ligation PCR (T-linker PCR) for gene or chromosome walking. The strategy amplifies the template molecules ...

  19. Temporal genomic evolution of bird sex chromosomes

    DEFF Research Database (Denmark)

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

    2014-01-01

    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...... evolved very recently. CONCLUSIONS: In conclusion, we uncover that the sequence and expression patterns of Z chromosome genes covary with their ages of becoming Z-linked. In contrast to the mammalian X chromosomes, such patterns are mainly driven by mutational bias and genetic drift in birds, due...... to the opposite sex-biased inheritance of Z vs. X....

  20. Holoprosencephaly due to numeric chromosome abnormalities.

    Science.gov (United States)

    Solomon, Benjamin D; Rosenbaum, Kenneth N; Meck, Jeanne M; Muenke, Maximilian

    2010-02-15

    Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been reported. Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE. PMID:20104610

  1. Novel insights into mitotic chromosome condensation

    Science.gov (United States)

    Piskadlo, Ewa; Oliveira, Raquel A.

    2016-01-01

    The fidelity of mitosis is essential for life, and successful completion of this process relies on drastic changes in chromosome organization at the onset of nuclear division. The mechanisms that govern chromosome compaction at every cell division cycle are still far from full comprehension, yet recent studies provide novel insights into this problem, challenging classical views on mitotic chromosome assembly. Here, we briefly introduce various models for chromosome assembly and known factors involved in the condensation process (e.g. condensin complexes and topoisomerase II). We will then focus on a few selected studies that have recently brought novel insights into the mysterious way chromosomes are condensed during nuclear division.

  2. Evaluation of Chromosomal Instability in Diabetic Rats Treated with Naringin

    Directory of Open Access Journals (Sweden)

    Saleh A. Bakheet

    2011-01-01

    Full Text Available We used the bone marrow DNA strand breaks, micronucleus formations, spermatocyte chromosomal aberrations, and sperm characteristic assays to investigate the chromosomal instability in somatic and germinal cells of diabetic rats treated with multiple doses of naringin. The obtained results revealed that naringin was neither cytotoxic nor genotoxic for the rats at all tested doses. Moreover, naringin significantly reduced the diabetes-induced chromosomal instability in somatic and germinal cells in a dose-dependent manner. In addition, diabetes induced marked biochemical alterations characteristic of oxidative stress including enhanced lipid peroxidation, accumulation of oxidized glutathione, reduction in reduced glutathione, and accumulation of intracellular reactive oxygen species. Treatment with naringin ameliorated these biochemical markers dose-dependently. In conclusion, naringin confers an appealing protective effect against diabetes-induced chromosomal instability towards rat somatic and germinal cells which might be explained partially via diminishing the de novo free radical generation induced by hyperglycemia. Thus, naringin might be a good candidate to reduce genotoxic risk associated with hyperglycemia and may provide decreases in the development of secondary malignancy and abnormal reproductive outcomes risks, which seems especially important for diabetic patients.

  3. Microcell-mediated transfer of a single human chromosome complements xeroderma pigmentosum group A fibroblasts

    International Nuclear Information System (INIS)

    Chromosomes from an immortalized aneuploid human fibroblast cell line were randomly tagged with the selectable marker neo by transfection with the plasmid pSV2neo. Somatic cell fusions between transfected human cells and mouse A9 cells generated pools of G418-resistant human-mouse hybrid clones containing various numbers of human chromosomes. Microcell-mediated chromosome transfer from the hybrid pools to xeroderma pigmentosum complementation group A (XP-A) cells in culture and selection for G418-resistant colonies resulted in the identification of XP cells with enhanced resistance to ultraviolet radiation. Screening of subclones from selected pools of human-mouse hybrids facilitated the identification of hybrids containing a single neo-tagged human chromosome. Transfer of this chromosome to XP-A cells (but not to XP-F or XP-C cells) results in enhanced resistance to ultraviolet light and enhanced excision repair capacity. The identification of a single human chromosome that complements the phenotype of XP-A cells in culture provides the potential for genetic mapping of the complementing gene and for its isolation by molecular cloning

  4. The inverse electro-oculogram.

    OpenAIRE

    Doft, B H; Burns, S A; Elsner, A.

    1982-01-01

    An electro-oculogram ratio of less than one was found to be caused by limited ocular excursions under photopic conditions in a patient with a rod-cone dystrophy. Because this inverse electro-oculogram ratio was not caused by a decrease in standing potential under photopic conditions, it should be considered an artefact.

  5. Exponential family and inverse problems

    Czech Academy of Sciences Publication Activity Database

    Gottvald, Aleš

    Dordrecht: Kluwer Academic Publishers, 2003 - (Rudnicki, M.; Wiak, S.), s. - ISBN 1-4020-1506-2 R&D Projects: GA MŠk ME 526 Institutional research plan: CEZ:AV0Z2065902 Keywords : exponential family * inverse problems * Bayes' theorem Subject RIV: BD - Theory of Information

  6. Topological evolution and inverse problems

    Czech Academy of Sciences Publication Activity Database

    Gottvald, Aleš

    Dordrecht: Kluwer Academic Publishers, 2003 - (Rudnicki, M.; Wiak, S.), s. - ISBN 1-4020-1506-2 R&D Projects: GA MŠk ME 526 Institutional research plan: CEZ:AV0Z2065902 Keywords : topological evolution * inverse problems * Cartan's exterior calculus Subject RIV: BD - Theory of Information

  7. Topological evolution and inverse problems

    Czech Academy of Sciences Publication Activity Database

    Gottvald, Aleš

    Lodz: IMET, 2002, s. 12. [OIPE. LODZ (PL), 12.09.2002-14.09.2002] R&D Projects: GA MŠk ME 526 Grant ostatní: AIP(XC) KONTAKT 57/2000 Institutional research plan: CEZ:AV0Z2065902 Keywords : topological evolution * inverse problems Subject RIV: BD - Theory of Information

  8. On Inverse Methodologies of ECT

    Czech Academy of Sciences Publication Activity Database

    Gottvald, Aleš

    Brno: Institute of Scientific Instruments of the Academy of Sciences of the Czech Republic, 1996. s. 29. [Optimization and Inverse Problems in Electromagnetism /4./. 19.06.1996-21.06.1996, Brno] R&D Projects: GA ČR GA102/95/0282

  9. Exponential family and inverse problems

    Czech Academy of Sciences Publication Activity Database

    Gottvald, Aleš

    Lodz: IMET, 2002, s. 13. [OIPE. LODZ (PL), 12.09.2002-14.09.2002] R&D Projects: GA MŠk ME 526 Grant ostatní: AIP(XC) KONTAKT 57/2000 Institutional research plan: CEZ:AV0Z2065902 Keywords : exponential family * inverse problems Subject RIV: BD - Theory of Information

  10. Inverse Problems in Data Analysis

    Czech Academy of Sciences Publication Activity Database

    Kůrková, Věra

    2006-01-01

    Roč. 82, č. 4 (2006), s. 41-48. ISSN 0033-2097 R&D Projects: GA AV ČR 1ET100300419 Institutional research plan: CEZ:AV0Z10300504 Keywords : learning from data * inverse problem * regularization * reproducing kernel Hilbert spaces Subject RIV: IN - Informatics, Computer Science

  11. Transient Microgeographic Clines during B Chromosome Invasion.

    Science.gov (United States)

    Camacho, Juan Pedro M; Shaw, Michael W; Cabrero, Josefa; Bakkali, Mohammed; Ruíz-Estévez, Mercedes; Ruíz-Ruano, Francisco J; Martín-Blázquez, Rubén; López-León, María Dolores

    2015-11-01

    The near-neutral model of B chromosome evolution predicts that the invasion of a new population should last some tens of generations, but the details on how it proceeds in real populations are mostly unknown. Trying to fill this gap, we analyze here a natural population of the grasshopper Eyprepocnemis plorans at three time points during the last 35 years. Our results show that B chromosome frequency increased significantly during this period and that a cline observed in 1992 had disappeared in 2012 once B chromosome frequency reached an upper limit at all sites sampled. This indicates that, during B chromosome invasion, transient clines for B chromosome frequency are formed at the invasion front on a microgeographic scale. Computer simulation experiments showed that the pattern of change observed for genotypic frequencies is consistent with the existence of B chromosome drive through females and selection against individuals with a high number of B chromosomes. PMID:26655780

  12. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Directory of Open Access Journals (Sweden)

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

  13. [The evolution of human Y chromosome].

    Science.gov (United States)

    Yang, Xianrong; Wang, Meiqin; Li, Shaohua

    2014-09-01

    The human Y chromosome is always intriguing for researchers, because of its role in gender determination and its unusual evolutionary history. The Y chromosome evolves from an autosome, and its evolution has been characterized by massive gene decay. The lack of recombination and protein-coding genes and high content of repetitive sequences have hindered the progress in our understanding of the Y chromosome biology. Recently, with the advances in comparative genomics and sequencing technology, the research on Y chromosome has become a hotspot, with an intensified debate about Y-chromosome final destination resulting from degeneration. This review focuses on the structure, inheritance characteristics, gene content, and the origin and evolution of Y chromosome. We also discuss the long-term destiny of Y chromosome. PMID:25252301

  14. Dynamics of chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck

    2007-01-01

    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 this...... and reliable method enabled us to start the analysis on the distribution of various chromosomal loci inside slowly growing cells. With the actual counting and measuring no longer being any problem we could easily analyze 14 loci distributed on the E.coli chromosome. More than 15.000 cells were...... on the P1 par system. Using the new system, which is based on the pMT1 par system from Yersenia pestis, we labeled loci on opposite sides of the E.coli chromosome simultaneously and were able to show that the E.coli chromosome is organized with one chromosomal arm in each cell half. This astounding...

  15. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

    Science.gov (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...

  16. International workshop of chromosome 19

    Energy Technology Data Exchange (ETDEWEB)

    Pericak-Vance, M.A. (Duke Univ. Medical Center, Durham, NC (United States). Div. of Neurology); Carrano, A.J. (Lawrence Livermore National Lab., CA (United States))

    1991-09-16

    This document summarizes the workshop on physical and genetic mapping of chromosome 19. The first session discussed the major disease loci found on the chromosome. The second session concentrated on reference families, markers and linkage maps. The third session concentrated on radiation hybrid mapping, somatic cell hybrid panels, macro restriction maps and YACs, followed by cDNA and long range physical maps. The fourth session concentrated on compiling consensus genetic and physical maps as well as discussing regions of conflict. The final session dealt with the LLNL cosmid contig database and comparative mapping of homologous regions of the human and mouse genomes, and ended with a discussion of resource sharing. 18 refs., 2 figs. (MHB)

  17. A time domain sampling method for inverse acoustic scattering problems

    Science.gov (United States)

    Guo, Yukun; Hömberg, Dietmar; Hu, Guanghui; Li, Jingzhi; Liu, Hongyu

    2016-06-01

    This work concerns the inverse scattering problems of imaging unknown/inaccessible scatterers by transient acoustic near-field measurements. Based on the analysis of the migration method, we propose efficient and effective sampling schemes for imaging small and extended scatterers from knowledge of time-dependent scattered data due to incident impulsive point sources. Though the inverse scattering problems are known to be nonlinear and ill-posed, the proposed imaging algorithms are totally "direct" involving only integral calculations on the measurement surface. Theoretical justifications are presented and numerical experiments are conducted to demonstrate the effectiveness and robustness of our methods. In particular, the proposed static imaging functionals enhance the performance of the total focusing method (TFM) and the dynamic imaging functionals show analogous behavior to the time reversal inversion but without solving time-dependent wave equations.

  18. Activation of an enhancerless gene by chromosomal integration.

    OpenAIRE

    Hamada, H

    1986-01-01

    Expression of enhancerless (E-) and enhancer-containing (E+) genes that are chromosomally integrated was examined. An E- plasmid (pE-cat) containing a chloramphenicol acetyltransferase (cat) gene linked to the simian virus 40 (SV40) early promoter or its E+ counterpart plasmid (pE+-cat) containing the SV40 enhancer was cotransfected into thymidine kinase (TK)-deficient L cells with a cloned tk gene. A number of TK+ transformants were isolated, and expression of the cointegrated cat gene in th...

  19. Baseline chromosome aberrations in children

    Czech Academy of Sciences Publication Activity Database

    Merlo, D.F.; Ceppi, M.; Stagi, E.; Bocchini, V.; Šrám, Radim; Rössner st., Pavel

    2007-01-01

    Roč. 172, - (2007), s. 60-67. ISSN 0378-4274 Grant ostatní: EU(EU) 2002-02198; EU(EU) 2005-016320 Institutional research plan: CEZ:AV0Z50390512 Source of funding: R - rámcový projekt EK ; R - rámcový projekt EK Keywords : chromosome aberrations * children * molecular epidemiology Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 2.826, year: 2007

  20. Clonality - X Chromosome Inactivation Assay

    OpenAIRE

    sprotocols

    2014-01-01

    Author: Molecular Profiling Initiative, NCI This method was successful in our lab using prostate tissue and for our specific objectives. Investigators must be aware that they will need to tailor the following protocol for their own research objectives and tissue under study. Investigators can utilize X chromosome inactivation (methylation) to determine the clonality status of a tumor or premalignant lesion in females. The technique is based on a methylation-sensitive restriction enzym...

  1. Chromosomal instability determines taxane response

    OpenAIRE

    Swanton, Charles; Nicke, Barbara; Schuett, Marion; Eklund, Aron C.; Ng, Charlotte; Li, Qiyuan; Hardcastle, Thomas; Lee, Alvin; Roy, Rajat; East, Philip; Kschischo, Maik; Endesfelder, David; Wylie, Paul; Kim, Se Nyun; Chen, Jie-Guang

    2009-01-01

    Microtubule-stabilizing (MTS) agents, such as taxanes, are important chemotherapeutics with a poorly understood mechanism of action. We identified a set of genes repressed in multiple cell lines in response to MTS agents and observed that these genes are overexpressed in tumors exhibiting 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....

  2. 控制论与人工影响天气Ⅰ:人工增雨作业中的正反问题及最优调控%Cybernetics in the Artificial Weather Modification Ⅰ.Direct and Inverse or Optimal Controlling Problem for Precipitation Enhancement Operation

    Institute of Scientific and Technical Information of China (English)

    雷恒池; 魏蕾; 曾庆存

    2012-01-01

    A review concerning the current situation of weather modifications based on the theory of natural cybernetics is given. The authors proposed that the direct as well as the inverse problems for weather modifications should be investigated. Based on a case study, the optimal controlling problem for weather modification operation is discussed. The results show that natural cybernetics is a good theoretical framework to instruct weather modifications. Not only observations of natural weather precipitation processes should be strengthened and numerical models to simulate them should be developed, but also the inverse problem, i.e., the optimal controlling problem for the weather modification should be studied. It is not only to consider the potentiality of rain enhancement by cloud seeding, but also need to investigate the temporal evolution and macro-micro-structures of precipitation cloud in the relevant weather system.%利用自然控制论的观点,重新审视了人工影响天气诸多方面的问题,提出了人工调控有限区域天气的正问题和反问题,并对最优调控问题,根据观测实例进行了分析讨论.结果表明,自然控制论是指导开展人工影响天气的一个好的理论框架,不仅要加强观测以了解自然降水过程,发展数值模式以更好的模拟实际降水过程,更需要开展反问题的研究;对最优调控的讨论表明,不能仅仅局限于有无催化可能,更应全面考虑降水云系的结构.

  3. Chromosome aberration assays in Allium

    Energy Technology Data Exchange (ETDEWEB)

    Grant, W.F.

    1982-01-01

    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.

  4. Chromosome rearrangements and transposable elements.

    Science.gov (United States)

    Lonnig, Wolf-Ekkehard; Saedler, Heinz

    2002-01-01

    There has been limited corroboration to date for McClintock's vision of gene regulation by transposable elements (TEs), although her proposition on the origin of species by TE-induced complex chromosome reorganizations in combination with gene mutations, i.e., the involvement of both factors in relatively sudden formations of species in many plant and animal genera, has been more promising. Moreover, resolution is in sight for several seemingly contradictory phenomena such as the endless reshuffling of chromosome structures and gene sequences versus synteny and the constancy of living fossils (or stasis in general). Recent wide-ranging investigations have confirmed and enlarged the number of earlier cases of TE target site selection (hot spots for TE integration), implying preestablished rather than accidental chromosome rearrangements for nonhomologous recombination of host DNA. The possibility of a partly predetermined generation of biodiversity and new species is discussed. The views of several leading transposon experts on the rather abrupt origin of new species have not been synthesized into the macroevolutionary theory of the punctuated equilibrium school of paleontology inferred from thoroughly consistent features of the fossil record. PMID:12429698

  5. Divergence of gene regulation through chromosomal rearrangements

    Directory of Open Access Journals (Sweden)

    Messing Joachim

    2010-11-01

    Full Text Available Abstract Background The molecular mechanisms that modify genome structures to give birth and death to alleles are still not well understood. To investigate the causative chromosomal rearrangements, we took advantage of the allelic diversity of the duplicated p1 and p2 genes in maize. Both genes encode a transcription factor involved in maysin synthesis, which confers resistance to corn earworm. However, p1 also controls accumulation of reddish pigments in floral tissues and has therefore acquired a new function after gene duplication. p1 alleles vary in their tissue-specific expression, which is indicated in their allele designation: the first suffix refers to red or white pericarp pigmentation and the second to red or white glume pigmentation. Results Comparing chromosomal regions comprising p1-ww[4Co63], P1-rw1077 and P1-rr4B2 alleles with that of the reference genome, P1-wr[B73], enabled us to reconstruct additive events of transposition, chromosome breaks and repairs, and recombination that resulted in phenotypic variation and chimeric regulatory signals. The p1-ww[4Co63] null allele is probably derived from P1-wr[B73] by unequal crossover between large flanking sequences. A transposon insertion in a P1-wr-like allele and NHEJ (non-homologous end-joining could have resulted in the formation of the P1-rw1077 allele. A second NHEJ event, followed by unequal crossover, probably led to the duplication of an enhancer region, creating the P1-rr4B2 allele. Moreover, a rather dynamic picture emerged in the use of polyadenylation signals by different p1 alleles. Interestingly, p1 alleles can be placed on both sides of a large retrotransposon cluster through recombination, while functional p2 alleles have only been found proximal to the cluster. Conclusions Allelic diversity of the p locus exemplifies how gene duplications promote phenotypic variability through composite regulatory signals. Transposition events increase the level of genomic complexity

  6. Comparative analysis of sex chromosomes in Leporinus species (Teleostei, Characiformes) using chromosome painting

    Science.gov (United States)

    2013-01-01

    Background The Leporinus genus, belonging to the Anostomidae family, is an interesting model for studies of sex chromosome evolution in fish, particularly because of the presence of heteromorphic sex chromosomes only in some species of the genus. In this study we used W chromosome-derived probes in a series of cross species chromosome painting experiments to try to understand events of sex chromosome evolution in this family. Results W chromosome painting probes from Leporinus elongatus, L. macrocephalus and L. obtusidens were hybridized to each others chromosomes. The results showed signals along their W chromosomes and the use of L. elongatus W probe against L. macrocephalus and L. obtusidens also showed signals over the Z chromosome. No signals were observed when the later aforementioned probe was used in hybridization procedures against other four Anostomidae species without sex chromosomes. Conclusions Our results demonstrate a common origin of sex chromosomes in L. elongatus, L. macrocephalus and L. obtusidens but suggest that the L. elongatus chromosome system is at a different evolutionary stage. The absence of signals in the species without differentiated sex chromosomes does not exclude the possibility of cryptic sex chromosomes, but they must contain other Leporinus W sequences than those described here. PMID:23822802

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

    Science.gov (United States)

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

    2015-01-01

    Abstract 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. PMID:26753081

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

    Directory of Open Access Journals (Sweden)

    Sebastian Pita

    2013-05-01

    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.

  9. Research of inverse mathematical model to high-speed trains

    Institute of Scientific and Technical Information of China (English)

    朱涛; 肖守讷; 马卫华; 阳光武

    2014-01-01

    Operation safety and stability of the train mainly depend on the interaction between the wheel and rail. Knowledge of wheel/rail contact force is important for vehicle control systems that aim to enhance vehicle stability and passenger safety. Since wheel/rail contact forces of high-speed train are very difficult to measure directly, a new estimation process for wheel/rail contact forces was introduced in this work. Based on the state space equation, dynamic programming methods and the Bellman principle of optimality, the main theoretical derivation of the inversion mathematical model was given. The new method overcomes the weakness of large fluctuations which exist in current inverse techniques. High-speed vehicle was chosen as the research object, accelerations of axle box as input conditions, 10 degrees of freedom vertical vibration model and 17 degrees of freedom lateral vibration model were established, respectively. Under 250 km/h, the vertical and lateral wheel/rail forces were identified. From the time domain and frequency domain, the comparison of the results between inverse and SIMPACK models were given. The results show that the inverse mathematical model has high precision for inversing the wheel/rail contact forces of an operation high-speed vehicle.

  10. Adaptive Role of Inversion Polymorphism of Drosophila subobscura in Lead Stressed Environment.

    Directory of Open Access Journals (Sweden)

    Bojan Kenig

    Full Text Available Local adaptation to environmental stress at different levels of genetic polymorphism in various plants and animals has been documented through evolution of heavy metal tolerance. We used samples of Drosophila subobscura populations from two differently polluted environments to analyze the change of chromosomal inversion polymorphism as genetic marker during laboratory exposure to lead. Exposure to environmental contamination can affect the genetic content within a particular inversion and produce targets for selection in populations from different environments. The aims were to discover whether the inversion polymorphism is shaped by the local natural environments, and if lead as a selection pressure would cause adaptive divergence of two populations during the multigenerational laboratory experiment. The results showed that populations retain signatures from past contamination events, and that heavy metal pollution can cause adaptive changes in population. Differences in inversion polymorphism between the two populations increased over generations under lead contamination in the laboratory. The inversion polymorphism of population originating from the more polluted natural environment was more stable during the experiment, both under conditions with and without lead. Therefore, results showed that inversion polymorphism as a genetic marker reflects a strong signature of adaptation to the local environment, and that historical demographic events and selection are important for both prediction of evolutionary potential and long-term viability of natural populations.

  11. Intraspecific chromosomal polymorphism in the Anopheles gambiae complex as a factor affecting malaria transmission in the Kisumu area of Kenya.

    Science.gov (United States)

    Petrarca, V; Beier, J C

    1992-02-01

    The paracentric inversion polymorphisms of Anopheles gambiae and An. arabiensis populations in the Kisumu area of western Kenya were studied in relation to parameters of Plasmodium falciparum transmission. Anopheles gambiae (n = 1,387) was polymorphic for inversions b on chromosomal arm 2R and a on arm 2L, with frequencies of the inverted arrangements of 17% and 43%, respectively. Anopheles arabiensis (n = 484) was polymorphic for inversion b on chromosomal arm 2R and a on 3R, with frequencies of the inverted arrangements of 58% and 5%, respectively. Observed karyotypic frequencies did not deviate from Hardy-Weinberg equilibrium, indicating a condition of panmixia (i.e., random mating) for both species. The overall degree of intraspecific polymorphism was low, confirming findings from other zones of East Africa. No significant differences in inversion frequencies of either An. gambiae or An. arabiensis were observed, either between collecting sites or between similar sampling periods of consecutive years. At the same time, a stable, significant two-fold difference in Plasmodium infection rates was detected among An. gambiae carriers of different inversion karyotypes on chromosome 2. A significant non-uniform distribution of human- and bovid-fed specimens was also detected among the carriers of different 2Rb inversion karyotypes in indoor resting An. arabiensis. Relationships among inversion karyotypes of the two major malaria vectors in the An. gambiae complex and key factors affecting malaria transmission intensity emphasize that intraspecific variation could contribute significantly to the diversity and stability of malaria vectorial systems in Africa. PMID:1539757

  12. Chromosome analysis of arsenic affected cattle

    Directory of Open Access Journals (Sweden)

    S. Shekhar

    2014-10-01

    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.

  13. The peripheral chromosome scaffold, a novel structural component of mitotic chromosomes.

    Science.gov (United States)

    Sheval, Eugene V; Polyakov, Vladimir Y

    2008-06-01

    Using an original high-salt extraction protocol, we observed a novel chromosome substructure, referred to as the peripheral chromosome scaffold. This chromosome domain contained the perichromosomal layer proteins pKi-67, B23/nucleophosmin and fibrillarin, but no DNA fragments (i.e., the loop domain bases were not associated with the peripheral scaffold). Modern models of chromosome organization do not predict the existence of a peripheral chromosome scaffold domain, and thus our observations have conceptual implications for understanding chromosome architecture. PMID:18337132

  14. Early and Late Damages in Chromosome 3 of Human Lymphocytes After Radiation Exposure

    Science.gov (United States)

    Sunagawa, Mayumi; Mangala, Lingegowda; Zhang, Ye; Kahdim, Munira; Wilson, Bobby; Cucinotta, Francis A.; Wu, Honglu

    2011-01-01

    Tumor formation in humans or animals is a multi-step process. An early stage of cancer development is believed to be genomic instability (GI) which accelerates the mutation rate in the descendants of the cells surviving radiation exposure. GI is defined as elevated or persistent genetic damages occurring many generations after the cells are exposed. While early studies have demonstrated radiation-induced GI in several cell types as detected in endpoints such as mutation, apoptosis and damages in chromosomes, the dependence of GI on the quality of radiation remains uncertain. To investigate GI in human lymphocytes induced by both low- and high-LET radiation, we initially exposed white blood cells collected from healthy subjects to gamma rays in vitro, and cultured the cells for multiple generations. Chromosome aberrations were analyzed in cells collected at first mitosis post irradiation and at several intervals during the culture period. Among a number of biological endpoints planned for the project, the multi-color banding fluorescent in situ hybridization (mBAND) allows identification of inversions that were expected to be stable. We present here early and late chromosome aberrations detected with mBAND in chromosome 3 after gamma exposure. Comparison of chromosome damages in between human lymphocytes and human epithelial cells is also discussed

  15. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

    Directory of Open Access Journals (Sweden)

    2005-10-01

    Full Text Available With a draft genome-sequence assembly for the chimpanzee available, it is now possible to perform genome-wide analyses to identify, at a submicroscopic level, structural rearrangements that have occurred between chimpanzees and humans. The goal of this study was to investigate chromosomal regions that are inverted between the chimpanzee and human genomes. Using the net alignments for the builds of the human and chimpanzee genome assemblies, we identified a total of 1,576 putative regions of inverted orientation, covering more than 154 mega-bases of DNA. The DNA segments are distributed throughout the genome and range from 23 base pairs to 62 mega-bases in length. For the 66 inversions more than 25 kilobases (kb in length, 75% were flanked on one or both sides by (often unrelated segmental duplications. Using PCR and fluorescence in situ hybridization we experimentally validated 23 of 27 (85% semi-randomly chosen regions; the largest novel inversion confirmed was 4.3 mega-bases at human Chromosome 7p14. Gorilla was used as an out-group to assign ancestral status to the variants. All experimentally validated inversion regions were then assayed against a panel of human samples and three of the 23 (13% regions were found to be polymorphic in the human genome. These polymorphic inversions include 730 kb (at 7p22, 13 kb (at 7q11, and 1 kb (at 16q24 fragments with a 5%, 30%, and 48% minor allele frequency, respectively. Our results suggest that inversions are an important source of variation in primate genome evolution. The finding of at least three novel inversion polymorphisms in humans indicates this type of structural variation may be a more common feature of our genome than previously realized.

  16. Analysis of RAE-1 inversion

    Science.gov (United States)

    Hedland, D. A.; Degonia, P. K.

    1974-01-01

    The RAE-1 spacecraft inversion performed October 31, 1972 is described based upon the in-orbit dynamical data in conjunction with results obtained from previously developed computer simulation models. The computer simulations used are predictive of the satellite dynamics, including boom flexing, and are applicable during boom deployment and retraction, inter-phase coast periods, and post-deployment operations. Attitude data, as well as boom tip data, were analyzed in order to obtain a detailed description of the dynamical behavior of the spacecraft during and after the inversion. Runs were made using the computer model and the results were analyzed and compared with the real time data. Close agreement between the actual recorded spacecraft attitude and the computer simulation results was obtained.

  17. Novel approach to Abel inversion

    International Nuclear Information System (INIS)

    Simple yet versatile, physically valid emissivity functions for peaked and hollow profiles with only two determinable parameters are proposed for performing Abel inversion. The advantages of the proposed functions have been explored. The inversion is very fast, accurate, convenient, and viable, in contrast to the existing methods. The validation of these functions has been confirmed by using simulated data under various conditions. The error in the process has been computed and found to depend on the functional form of the model emissivity. A comprehensive comparison has been drawn with the existing method and it has been found to offer a definite advantage over the existing technique in some respects, especially for real time applications. Limitation of this technique has also been discussed. The soft x-ray and visible light emissivity profile of SINP tokamak has been successfully obtained by using this method

  18. Southern California Adjoint Source Inversions

    Science.gov (United States)

    Tromp, J.; Kim, Y.

    2007-12-01

    Southern California Centroid-Moment Tensor (CMT) solutions with 9 components (6 moment tensor elements, latitude, longitude, and depth) are sought to minimize a misfit function computed from waveform differences. The gradient of a misfit function is obtained based upon two numerical simulations for each earthquake: one forward calculation for the southern California model, and an adjoint calculation that uses time-reversed signals at the receivers. Conjugate gradient and square-root variable metric methods are used to iteratively improve the earthquake source model while reducing the misfit function. The square-root variable metric algorithm has the advantage of providing a direct approximation to the posterior covariance operator. We test the inversion procedure by perturbing each component of the CMT solution, and see how the algorithm converges. Finally, we demonstrate full inversion capabilities using data for real Southern California earthquakes.

  19. Tiling Spaces are Inverse Limits

    OpenAIRE

    Sadun, Lorenzo

    2002-01-01

    Let M be an arbitrary Riemannian homogeneous space, and let Omega be a space of tilings of M, with finite local complexity (relative to some symmetry group Gamma) and closed in the natural topology. Then Omega is the inverse limit of a sequence of compact finite-dimensional branched manifolds. The branched manifolds are (finite) unions of cells, constructed from the tiles themselves and the group Gamma. This result extends previous results of Anderson and Putnam, of Ormes, Radin and Sadun, of...

  20. On the Inverse Radon Transform

    Czech Academy of Sciences Publication Activity Database

    Chvála, František

    Praha : Humusoft, 2007, s. 1-6. ISBN 978-80-7080-658-6. [Annual Conference Proceedings - Technical Computing Prague 2007 /15./. Prague (CZ), 14.11.2007] R&D Projects: GA ČR(CZ) GA202/05/0728 Institutional research plan: CEZ:AV0Z20570509 Keywords : inverse Radon transform * Radon transform Subject RIV: BA - General Mathematics www.humusoft.cz/akce/matlab07

  1. ISIR: Independent Sliced Inverse Regression

    OpenAIRE

    Li, Kevin

    2013-01-01

    International audience In this paper we consider a semiparametric regression model involving a $p$-dimensional explanatory variable ${\\mathbf{x}}$ and including a dimension reduction of ${\\mathbf{x}}$ via an index $B'{\\mathbf{x}}$. In this model, the main goal is to estimate $B$ and to predict the real response variable $Y$ conditionally to ${\\mathbf{x}}$. A standard approach is based on sliced inverse regression (SIR). We propose a new version of this method: the independent sliced invers...

  2. Inverse Design of Electron Lens

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    The inverae design of electron lens is reelized by two different methods in this paper. One isdamped leastsquare method and the other is the artificial neural network method. Their merits and defects are discussed accordingto our calculation results in the psper. In the condition of selecting the learning samples properly, the artificial neuralnetwork has obvious advantages in the inverse design of electron lens. It is an effective method to solve the inversedesign problem in the electron optic system.

  3. Deciphering evolutionary strata on plant sex chromosomes and fungal mating-type chromosomes through compositional segmentation.

    Science.gov (United States)

    Pandey, Ravi S; Azad, Rajeev K

    2016-03-01

    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

  4. Chromosome engineering: power tools for plant genetics.

    Science.gov (United States)

    Chan, Simon W L

    2010-12-01

    The term "chromosome engineering" describes technologies in which chromosomes are manipulated to change their mode of genetic inheritance. This review examines recent innovations in chromosome engineering that promise to greatly increase the efficiency of plant breeding. Haploid Arabidopsis thaliana have been produced by altering the kinetochore protein CENH3, yielding instant homozygous lines. Haploid production will facilitate reverse breeding, a method that downregulates recombination to ensure progeny contain intact parental chromosomes. Another chromosome engineering success is the conversion of meiosis into mitosis, which produces diploid gametes that are clones of the parent plant. This is a key step in apomixis (asexual reproduction through seeds) and could help to preserve hybrid vigor in the future. New homologous recombination methods in plants will potentiate many chromosome engineering applications. PMID:20933291

  5. Radiation induced chromosome instability in human fibroblasts

    International Nuclear Information System (INIS)

    Evidence has been arising that some biological effects can manifest many cell divisions after irradiation. We have demonstrated that de novo chromosome instability can be detected 10- 15 mean population doubling after heavy ion irradiations. This chromosome instability is characterized by end to end fusions between specific chromosomes. The specificity of the instability may differ from one donor to another but for the same donor, the same instability should be observed after irradiation, during the senescence process and after SV40 transfection (before crisis). In irradiated primary culture fibroblasts, the expression of the delayed chromosomal instability lasts for several cell divisions without inducing cell death. Several rounds of fusions- breakage-fusions can be performed and unbalanced clones emerge (gain or loss of chromosomes with the shorter telomeres would become unstable first.. The difference in the chromosomal instability among donors could be due to a polymorphism in telomere lengths. This could induce large variation in long term response to irradiation among individuals. (author)

  6. Generalized Inverses of Matrices over Rings

    Institute of Scientific and Technical Information of China (English)

    韩瑞珠; 陈建龙

    1992-01-01

    Let R be a ring,*be an involutory function of the set of all finite matrices over R. In this pa-per,necessary and sufficient conditions are given for a matrix to have a (1,3)-inverse,(1,4)-inverse,or Morre-Penrose inverse,relative to *.Some results about generalized inverses of matrices over division rings are generalized and improved.

  7. An elegant 3-basis for inverse semigroups

    CERN Document Server

    Araujo, Joao

    2010-01-01

    It is well known that in every inverse semigroup the binary operation and the unary operation of inversion satisfy the following three identities: \\[ \\quad x=(xx')x \\qquad \\quad (xx')(y'y)=(y'y)(xx') \\qquad \\quad (xy)z=x(yz'')\\,. \\] The goal of this note is to prove the converse, that is, we prove that every unary semigroup satisfying these three identities is an inverse semigroup and the unary operation coincides with the usual inversion on such semigroups.

  8. From time inversion to nonlinear QED

    OpenAIRE

    Jin, Wei Min

    2000-01-01

    In Minkowski flat space-time, it is perceived that time inversion is unitary rather than antiunitary, with energy being a time vector changing sign under time inversion. The Dirac equation, in the case of electromagnetic interaction, is not invariant under unitary time inversion, giving rise to a ``Klein paradox''. To render unitary time inversion invariance, a nonlinear wave equation is constructed, in which the ``Klein paradox'' disappears. In the case of Coulomb interaction, the revised no...

  9. An elegant 3-basis for inverse semigroups

    OpenAIRE

    Araujo, Joao; Kinyon, Michael

    2010-01-01

    It is well known that in every inverse semigroup the binary operation and the unary operation of inversion satisfy the following three identities: [\\quad x=(xx')x \\qquad \\quad (xx')(y'y)=(y'y)(xx') \\qquad \\quad (xy)z=x(yz"). ] The goal of this note is to prove the converse, that is, we prove that an algebra of type $$ satisfying these three identities is an inverse semigroup and the unary operation coincides with the usual inversion on such semigroups.

  10. The possibilities of linearized inversion of internally scattered seismic data

    KAUST Repository

    Aldawood, Ali

    2014-08-05

    Least-square migration is an iterative linearized inversion scheme that tends to suppress the migration artifacts and enhance the spatial resolution of the migrated image. However, standard least-square migration, based on imaging single scattering energy, may not be able to enhance events that are mainly illuminated by internal multiples such as vertical and nearly vertical faults. To alleviate this problem, we propose a linearized inversion framework to migrate internally multiply scattered energy. We applied this least-square migration of internal multiples to image a vertical fault. Tests on synthetic data demonstrate the ability of the proposed method to resolve a vertical fault plane that is poorly resolved by least-square imaging using primaries only. We, also, demonstrate the robustness of the proposed scheme in the presence of white Gaussian random observational noise and in the case of imaging the fault plane using inaccurate migration velocities.

  11. Meiosis I: When Chromosomes Undergo Extreme Makeover

    OpenAIRE

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

    2013-01-01

    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...

  12. Novel Gene Acquisition on Carnivore Y Chromosomes

    OpenAIRE

    Murphy, William J.; A J Pearks Wilkerson; Terje Raudsepp; Richa Agarwala; Schäffer, Alejandro A.; Roscoe Stanyon; Chowdhary, Bhanu P

    2006-01-01

    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...

  13. Identification of bacterial cells by chromosomal painting.

    OpenAIRE

    Lanoil, B. D.; Giovannoni, S J

    1997-01-01

    Chromosomal painting is a technique for the microscopic localization of genetic material. It has been applied at the subcellular level to identify regions of eukaryotic chromosomes. Here we describe the development of bacterial chromosomal painting (BCP), a related technology for the identification of bacterial cells. Purified genomic DNAs from six bacterial strains were labeled by nick translation with the fluorochrome Fluor-X, Cy3, or Cy5. The average size of the labeled fragments was ca. 5...

  14. Holoprosencephaly due to Numeric Chromosome Abnormalities

    OpenAIRE

    Solomon, Benjamin D.; Rosenbaum, Kenneth N.; Meck, Jeanne M.; Muenke, Maximilian

    2010-01-01

    Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been ...

  15. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    OpenAIRE

    Daniela Mierla; Viorica Radoi; Veronica Stoian

    2012-01-01

    Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, ka...

  16. How does DNA break during chromosomal translocations?

    OpenAIRE

    Nambiar, Mridula; Raghavan, Sathees C.

    2011-01-01

    Chromosomal translocations are one of the most common types of genetic rearrangements and are molecular signatures for many types of cancers. They are considered as primary causes for cancers, especially lymphoma and leukemia. Although many translocations have been reported in the last four decades, the mechanism by which chromosomes break during a translocation remains largely unknown. In this review, we summarize recent advances made in understanding the molecular mechanism of chromosomal t...

  17. -Colour even Self-Inverse Compositions

    Indian Academy of Sciences (India)

    Yu-hong Guo

    2010-02-01

    An -colour even self-inverse composition is defined as an -colour self-inverse composition with even parts. In this paper, we get generating functions, explicit formulas and recurrence formulas for -colour even self-inverse compositions. One new binomial identity is also obtained.

  18. Inverse Computation and the Universal Resolving Algorithm

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    We survey fundamental concepts for inverse programming and thenpresent the Uni v ersal Resolving Algorithm, an algorithm for inverse computation in a first-orde r , functional programming language. We discuss the key concepts of the algorithm, including a three-step approach based on the notion of a perfect process tree, and demonstrate our implementation with several examples of inverse computation.

  19. Advances in plant chromosome genomics

    Czech Academy of Sciences Publication Activity Database

    Doležel, Jaroslav; Vrána, Jan; Cápal, Petr; Kubaláková, Marie; Burešová, Veronika; Šimková, Hana

    2014-01-01

    Roč. 32, č. 1 (2014), s. 122-136. ISSN 0734-9750 R&D Projects: GA ČR GAP501/10/1740; GA ČR GAP501/10/1778; GA ČR GBP501/12/G090; GA MŠk(CZ) LO1204 Grant ostatní: GA MŠk(CZ) ED0007/01/01 Institutional support: RVO:61389030 Keywords : BAC library * Chromosome sorting * Cytogenetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.015, year: 2014

  20. Multiple chromosomes of Azotobacter vinelandii.

    OpenAIRE

    1989-01-01

    The number of copies of the genes leuB, nifH, nifD, and nifK per cell of Azotobacter vinelandii has been determined to be about 80. A beta-lactamase gene was integrated into the A. vinelandii chromosome by single-point crossover. Subsequently, we have been able to detect nearly 80 copies of this beta-lactamase gene per cell of A. vinelandii when cultured for a large number of generations in the presence of ampicillin. The multiple copies of the beta-lactamase gene do not seem to be present on...

  1. Chromosome banding in Amphibia. XXIV. The B chromosomes of Gastrotheca espeletia (Anura, Hylidae).

    Science.gov (United States)

    Schmid, M; Ziegler, C G; Steinlein, C; Nanda, I; Haaf, T

    2002-01-01

    The mitotic chromosomes of an Ecuadorian population of the marsupial frog Gastrotheca espeletia were analyzed by means of banding techniques and fluorescence in situ hybridization. This species is characterized by unusual supernumerary (B) chromosomes. The maximum number of B chromosomes is 9 and they occur in three different morphological types. Banding analyses show that the B chromosomes are completely heterochromatic, consist of AT base pair-rich repeated DNA sequences, replicate their DNA in very late S-phase of the cell cycle, and are probably derived from a centromeric or paracentromeric region of a standard (A) chromosome. Exceptionally, the B chromosomes carry 18S + 28S ribosomal RNA genes and the conserved vertebrate telomeric DNA sequence appears to be underrepresented. Flow cytometric measurements of the nuclear DNA content differentiate between individuals with different numbers of B chromosomes. Significantly more B chromosomes are present in female than in male animals. PMID:12438715

  2. Giemsa C-banding of Barley Chromosomes. IV. Chromosomal Constitution of Autotetraploid Barley

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib

    1984-01-01

    homologues of each of the chromosomes. The aneuploid C2--seedlings were fairly equally distributed on hypo-and hyperploids, and on the seven chromosome groups. This suggests that a particular chromosome is lost or gained at random in gametes and embryos. The 11 C3--seedlings comprised seven true euploids......The progeny of an autotetraploid barley plant (C1) consisted of 45 tetraploids and 33 aneuploids. Giemsa C-banding was used to identify each of the chromosomes in 20 euploid and 31 aneuploid C2--seedlings, and in 11 C3--offspring of aneuploid C2--plants. The euploid C2--seedlings all had four......, one seedling with 2n=28 having an extra chromosome 6 and missing one chromosome 3, and three seedlings with 2n=29. The chromosomal composition of aneuploid C3--seedlings did not reflect that of their aneuploid C2--parents with respect to missing or extra chromosomes. Two hypohexaploid C2--seedlings...

  3. Objectified quantification of uncertainties in Bayesian atmospheric inversions

    Directory of Open Access Journals (Sweden)

    A. Berchet

    2014-07-01

    Full Text Available Classical Bayesian atmospheric inversions process atmospheric observations and prior emissions, the two being connected by an observation operator picturing mainly the atmospheric transport. These inversions rely on prescribed errors in the observations, the prior emissions and the observation operator. At the meso-scale, inversion results are very sensitive to the prescribed error distributions, which are not accurately known. The classical Bayesian framework experiences difficulties in quantifying the impact of mis-specified error distributions on the optimized fluxes. In order to cope with this issue, we rely on recent research results and enhance the classical Bayesian inversion framework through a marginalization on all the plausible errors that can be prescribed in the system. The marginalization consists in computing inversions for all possible error distributions weighted by the probability of occurence of the error distributions. The posterior distribution of the fluxes calculated by the marginalization is complicated and not explicitly describable. We then carry out a Monte-Carlo sampling relying on an approximation of the probability of occurence of the error distributions. This approximation is deduced from the well-tested algorithm of the Maximum of Likelihood. Thus, the marginalized inversion relies on an automatic objectified diagnosis of the error statistics, without any prior knowledge about the matrices. It robustly includes the uncertainties on the error distributions, contrary to what is classically done with frozen expert-knowledge error statistics. Some expert knowledge is still used in the method for the choice of emission aggregation pattern and sampling protocol in order to reduce the computation costs of the method. The relevance and the robustness of the method is tested on a case study: the inversion of methane surface fluxes at the meso-scale with real observation sites in Eurasia. Observing System Simulation

  4. Microtubule detyrosination guides chromosomes during mitosis

    OpenAIRE

    Barisic, Marin; Silva e Sousa, Ricardo; Tripathy, Suvranta K.; Magiera, Maria M.; Zaytsev, Anatoly V.; Pereira, Ana L.; Janke, Carsten; Grishchuk, Ekaterina L.; Maiato, Helder

    2015-01-01

    Before chromosomes segregate into daughter cells they align at the mitotic spindle equator, a process known as chromosome congression. CENP-E/Kinesin-7 is a microtubule plus-end-directed kinetochore motor required for congression of pole-proximal chromosomes. Because the plus-ends of many astral microtubules in the spindle point to the cell cortex, it remains unknown how CENP-E guides pole-proximal chromosomes specifically towards the equator. Here we found that congression of pole-proximal c...

  5. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  6. Cognitive and medical features of chromosomal aneuploidy.

    Science.gov (United States)

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

    2013-01-01

    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. PMID:23622175

  7. Chromosomal aberrations in ore miners of Slovakia

    International Nuclear Information System (INIS)

    A pilot study was performed in which the incidence of chromosomal aberrations in lymphocytes of miners in ore mines located in Central Slovakia was monitored and related to lifetime underground radon exposure and to lifetime smoking. The conclusions drawn from the results of the study were as follows: the counts of chromosomal aberrations in lymphocytes of miners were significantly higher than in an age matched control group of white-collar staff; the higher counts of chromosomal aberrations could be ascribed to underground exposure of miners and to smoking; a dependence of chromosomal aberration counts on the exposure to radon could not be assessed. (A.K.)

  8. Reproductive Incompatibility Involving Senegalese Aedes aegypti (L) Is Associated with Chromosome Rearrangements

    Science.gov (United States)

    Dickson, Laura B.; Sharakhova, Maria V.; Timoshevskiy, Vladimir A.; Fleming, Karen L.; Caspary, Alex; Sylla, Massamba; Black, William C.

    2016-01-01

    was used to identify AT-rich regions, chromomycin A3 following pretreatment with barium hydroxide stained for GC-rich regions and stained the ribosomal RNA locus and YOYO-1 was used to test for differential staining. Chromosome patterns in SenAae strains revealed by these three stains differed from those in IB12. For FISH, 40 BAC clones previously physically mapped on Aaa chromosomes were used to test for chromosome rearrangements in SenAae relative to IB12. Differences in the order of markers identified two chromosomal rearrangements between IB12 and SenAae strains. The first rearrangement involves two overlapping pericentric (containing the centromere) inversions in chromosome 3 or an insertion of a large fragment into the 3q arm. The second rearrangement is close to the centromere on the p arm of chromosome 2. Linkage analysis of the SDL and the white-eye locus identified a likely chromosomal rearrangement on chromosome 1. The reproductive incompatibility observed within SenAae and between SenAae and Aaa may be generally associated with chromosome rearrangements on all three chromosomes and specifically caused by pericentric inversions on chromosomes 2 and 3. PMID:27105225

  9. Reproductive Incompatibility Involving Senegalese Aedes aegypti (L) Is Associated with Chromosome Rearrangements.

    Science.gov (United States)

    Dickson, Laura B; Sharakhova, Maria V; Timoshevskiy, Vladimir A; Fleming, Karen L; Caspary, Alex; Sylla, Massamba; Black, William C

    2016-04-01

    used to identify AT-rich regions, chromomycin A3 following pretreatment with barium hydroxide stained for GC-rich regions and stained the ribosomal RNA locus and YOYO-1 was used to test for differential staining. Chromosome patterns in SenAae strains revealed by these three stains differed from those in IB12. For FISH, 40 BAC clones previously physically mapped on Aaa chromosomes were used to test for chromosome rearrangements in SenAae relative to IB12. Differences in the order of markers identified two chromosomal rearrangements between IB12 and SenAae strains. The first rearrangement involves two overlapping pericentric (containing the centromere) inversions in chromosome 3 or an insertion of a large fragment into the 3q arm. The second rearrangement is close to the centromere on the p arm of chromosome 2. Linkage analysis of the SDL and the white-eye locus identified a likely chromosomal rearrangement on chromosome 1. The reproductive incompatibility observed within SenAae and between SenAae and Aaa may be generally associated with chromosome rearrangements on all three chromosomes and specifically caused by pericentric inversions on chromosomes 2 and 3. PMID:27105225

  10. Analysis of inversions in the factor VIII gene in Spanish hemophilia A patients and families

    Energy Technology Data Exchange (ETDEWEB)

    Domenech, M.; Tizzano, E.; Baiget, M. [Hospital de Sant Pau, Barcelona (Spain); Altisent, C. [Hospital Vall d`Hebron, Barcelona (Spain)

    1994-09-01

    Intron 22 is the largest intron of the factor VIII gene and contains a CpG island from which two additional transcripts originate. One of these transcripts corresponds to the F8A gene which have telomeric extragenic copies in the X chromosome. An inversion involving homologous recombination between the intragenic and the distal or proximal copies of the F8A gene has been recently described as a common cause of severe hemophilia A (HA). We analyzed intron 22 rearrangements in 195 HA patients (123 familial and 72 sporadic cases). According to factor VIII levels, our sample was classified as severe in 114 cases, moderate in 29 cases and mild in 52 cases. An intron 22 (F8A) probe was hybridized to Southern blots of BcII digested DNA obtained from peripheral blood. A clear pattern of altered bands identifies distal or proximal inversions. We detected an abnormal pattern identifying an inversion in 49 (25%) of the analyzed cases. 43% of severe HA patients (49 cases) showed an inversion. As expected, no inversion was found in the moderate and mild group of patients. We found a high proportion (78%) of the distal rearrangement. From 49 identified inversions, 33 were found in familial cases (27%), while the remaining 15 were detected in sporadic patients (22%) in support that this mutational event occurs with a similar frequency in familial or sporadic cases. In addition, we detected a significant tendency of distal inversion to occur more frequently in familial cases than in sporadic cases. Inhibitor development to factor VIII was documented in approximately 1/3 of the patients with inversion. The identification of such a frequent molecular event in severe hemophilia A patients has been applied in our families to carrier and prenatal diagnosis, to determine the origin of the mutation in the sporadic cases and to detect the presence of germinal mosaicism.

  11. Simultaneous time-lapse electrical resistivity inversion

    Science.gov (United States)

    Hayley, Kevin; Pidlisecky, A.; Bentley, L. R.

    2011-10-01

    Time-lapse monitoring is a powerful tool for observing dynamic changes in the subsurface. In particular it offers the potential for achieving inversion results with increased fidelity through the inclusion of complementary information from multiple time-steps. This inclusion of complementary information can reduce the need for spatial smoothing, without adding inversion artifacts to the resulting images. Commonly used time-lapse inversion methods include the ratio method, cascaded time-lapse inversion, difference inversion and differencing independent inversions. We introduce two additional methods in which both time-lapse data sets are inverted simultaneously. In the first, called temporally constrained time-lapse inversion, inversion of both datasets is done under a single optimization procedure and constraints are added to the regularization to ensure that the changes from one time to another are smooth. In the second method, called simultaneous time-lapse inversion, the inversions at time 1 and time 2 are performed simultaneously and constraints of smoothness and closeness to a reference model are applied to the difference image produced at each iteration, and subsequently, the constraints are updated at each iteration. Through both a numerical and a field example we compare the results of common time-lapse inversion methods as well as the introduced approaches. We found that of the commonly used time-lapse inversion methods the difference inversion method produced the best resolution of time-lapse changes and was the most robust in the presence of noise. However, we found that the alternative approach of simultaneous time-lapse inversion produced the best reconstruction of modeled EC changes in the numerical example and easily interpretable high resolution difference images in the field example. Moreover, there was less tailoring of regularization parameters with our simultaneous time-lapse approach, suggesting that it will lend itself well to an automated

  12. Male meiosis, heterochromatin characterization and chromosomal location of rDNA in Microtomus lunifer (Berg, 1900 (Hemiptera: Reduviidae: Hammacerinae

    Directory of Open Access Journals (Sweden)

    María Poggio

    2011-05-01

    Full Text Available In the present work, we analysed the male meiosis, the content and distribution of heterochromatin and the number and location of nucleolus organizing regions in Microtomus lunifer (Berg, 1900 by means of standard technique, C- and fluorescent bandings, and fluorescent in situ hybridization with an 18S rDNA probe. This species is the second one cytogenetically analysed within the Hammacerinae. Its male diploid chromosome number is 31 (2n=28+X1X2Y, including a minute pair of m-chromosomes. The diploid autosomal number and the presence of m-chromosomes are similar to those reported in M. conspicillaris (Drury, 1782 (2n=28+XY. However, M. lunifer has a multiple sex chromosome system X1X2Y (male that could have originated by fragmentation of the ancestral X chromosome. Taking into account that M. conspicillaris and M. lunifer are the only two species within Reduviidae that possess m-chromosomes, the presence of this pair could be a synapomorphy for the species of this genus. C- and fluorescent bandings showed that the amount of heterochromatin in M. lunifer was small, and only a small CMA3 bright band was observed in the largest autosomal pair at one terminal region. FISH with the 18S rDNA probe demonstrated that ribosomal genes were terminally placed on the largest autosomal pair. Our present results led us to propose that the location of rDNA genes could be associated with variants  of the sex chromosome systems in relation with a kind of the sex chromosome systems within this family. Furthermore, the terminal location of NOR in the largest autosomal pair allowed us to use it as a chromosome marker and, thus, to infer that the kinetic activity of both ends is not a random process, and there is an inversion of this activity.

  13. Chromosomal replicons of higher plants

    Energy Technology Data Exchange (ETDEWEB)

    Van' t Hof, J.

    1987-03-16

    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.

  14. Increased chromosome radiosensitivity during pregnancy

    International Nuclear Information System (INIS)

    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

  15. Retrospective dosimetry by chromosomal analysis

    International Nuclear Information System (INIS)

    The joint EU/CIS project ECP-6, was set up to examine whether cytogenetic dosimetry is possible for persons irradiated years previously at Chernobyl. The paper describes the possibility of achieving this by the examination of blood lymphocytes for unstable and stable chromosome aberrations; dicentrics and translocations. Emphasis was placed on the relatively new fluorescence in situ hybridization (FISH) method for rapid screening for stable translocations. In a collaborative experiment in vitro dose response calibration curves for dicentrics and FISH were produced with gamma radiation over the range 0-1.0 Gy. A pilot study of about 60 liquidators with registered doses ranging from 0-300 mSv was undertaken to determine whether the chromosomal methods may verify the recorded doses. It was concluded that the dicentric is no longer valid as a measured endpoint. Translocations may be used to verify early dosimetry carried out on highly irradiated persons. For the vast majority of lesser exposed subjects FISH is impractical as an individual dosimeter; it may have some value for comparing groups of subjects

  16. Chromosomal instability determines taxane response.

    Science.gov (United States)

    Swanton, Charles; Nicke, Barbara; Schuett, Marion; Eklund, Aron C; Ng, Charlotte; Li, Qiyuan; Hardcastle, Thomas; Lee, Alvin; Roy, Rajat; East, Philip; Kschischo, Maik; Endesfelder, David; Wylie, Paul; Kim, Se Nyun; Chen, Jie-Guang; Howell, Michael; Ried, Thomas; Habermann, Jens K; Auer, Gert; Brenton, James D; Szallasi, Zoltan; Downward, Julian

    2009-05-26

    Microtubule-stabilizing (MTS) agents, such as taxanes, are important chemotherapeutics with a poorly understood mechanism of action. We identified a set of genes repressed in multiple cell lines in response to MTS agents and observed that these genes are overexpressed in tumors exhibiting 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-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 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. PMID:19458043

  17. Chromosomal replicons of higher plants

    International Nuclear Information System (INIS)

    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

  18. The X chromosome of monotremes shares a highly conserved region with the eutherian and marsupial X chromosomes despite the absence of X chromosome inactivation

    Energy Technology Data Exchange (ETDEWEB)

    Watson, J.M.; Spencer, J.A.; Graves, J.A.M. (La Trobe Univ., Bundoora, Victoria (Australia)); Riggs, A.D. (Beckman Inst., Duarte, CA (USA))

    1990-09-01

    Eight genes, located on the long arm of the human X chromosome and present on the marsupial X chromosome, were mapped by in situ hybridization to the chromosomes of the platypus Ornithorhynchus anatinus, one of the three species of monotreme mammals. All were located on the X chromosome. The authors conclude that the long arm of the human X chromosome represents a highly conserved region that formed part of the X chromosome in a mammalian ancestor at least 150 million years ago. Since three of these genes are located on the long arm of the platypus X chromosome, which is G-band homologous to the Y chromosome and apparently exempt from X chromosome inactivation, the conservation of this region has evidently not depended on isolation by X-Y chromosome differentiation and X chromosome inactivation.

  19. Inversion of GPS meteorology data

    Directory of Open Access Journals (Sweden)

    K. Hocke

    Full Text Available The GPS meteorology (GPS/MET experiment, led by the Universities Corporation for Atmospheric Research (UCAR, consists of a GPS receiver aboard a low earth orbit (LEO satellite which was launched on 3 April 1995. During a radio occultation the LEO satellite rises or sets relative to one of the 24 GPS satellites at the Earth's horizon. Thereby the atmospheric layers are successively sounded by radio waves which propagate from the GPS satellite to the LEO satellite. From the observed phase path increases, which are due to refraction of the radio waves by the ionosphere and the neutral atmosphere, the atmospheric parameter refractivity, density, pressure and temperature are calculated with high accuracy and resolution (0.5–1.5 km. In the present study, practical aspects of the GPS/MET data analysis are discussed. The retrieval is based on the Abelian integral inversion of the atmospheric bending angle profile into the refractivity index profile. The problem of the upper boundary condition of the Abelian integral is described by examples. The statistical optimization approach which is applied to the data above 40 km and the use of topside bending angle profiles from model atmospheres stabilize the inversion. The retrieved temperature profiles are compared with corresponding profiles which have already been calculated by scientists of UCAR and Jet Propulsion Laboratory (JPL, using Abelian integral inversion too. The comparison shows that in some cases large differences occur (5 K and more. This is probably due to different treatment of the upper boundary condition, data runaways and noise. Several temperature profiles with wavelike structures at tropospheric and stratospheric heights are shown. While the periodic structures at upper stratospheric heights could be caused by residual errors of the ionospheric correction method, the periodic temperature fluctuations at heights below 30 km are most likely caused by atmospheric waves (vertically

  20. The continuation inverse problem revisited

    Science.gov (United States)

    Huestis, Stephen P.

    1998-06-01

    The non-uniqueness of the continuation of a finite collection of harmonic potential field data to a level surface in the source-free region forces its treatment as an inverse problem. A formalism is proposed for the construction of continuation functions which are extremal by various measures. The problem is cast in such a form that the inverse problem solution is the potential function on the lowest horizontal surface above all sources, serving as the boundary function for the Dirichlet problem in the upper half-plane. The desired continuation, at the higher level of interest, must then be in the range of the upward continuation operator acting on this boundary function, rather than being allowed the full freedom of itself being part of a Dirichlet problem boundary function. Extremal solutions minimize non-linear functionals of the continuation function, which are re-expressed as different functionals of the boundary function. A crux of the method is that there is no essential distinction between the upward and downward continuation inverse problems to levels above or below data locations. Casting the optimization as a Lagrange multiplier problem leads to an integral equation for the boundary function, which is readily solved in the Fourier domain for a certain class of functionals. The desired extremal continuation is then given by upward continuation. It is found that for some functionals, application of the Lagrange multiplier theorem requires a further restriction on the set of allowable boundary functions: bandlimitedness is a natural choice for the continuation problem. With this imposition, the theory is developed in detail for semi-norm functionals penalizing departure from a constant potential, in the 2-norm and Sobelev norm senses, and illustrated by application for a small synthetic Deep Tow magnetic field data set.

  1. High resolution 3D nonlinear integrated inversion

    Institute of Scientific and Technical Information of China (English)

    Li Yong; Wang Xuben; Li Zhirong; Li Qiong; Li Zhengwen

    2009-01-01

    The high resolution 3D nonlinear integrated inversion method is based on nonlinear theory. Under layer control, the log data from several wells (or all wells) in the study area and seismic trace data adjacent to the wells are input to a network with multiple inputs and outputs and are integratedly trained to obtain an adaptive weight function of the entire study area. Integrated nonlinear mapping relationships are built and updated by the lateral and vertical geologic variations of the reservoirs. Therefore, the inversion process and its inversion results can be constrained and controlled and a stable seismic inversion section with high resolution with velocity inversion, impedance inversion, and density inversion sections, can be gained. Good geologic effects have been obtained in model computation tests and real data processing, which verified that this method has high precision, good practicality, and can be used for quantitative reservoir analysis.

  2. Spray formation: an inverse cascade

    CERN Document Server

    Ling, Yue; Tryggvason, Gretar; zaleski, Stephane

    2015-01-01

    We present a study of droplet formation in a gas-liquid mixing layer using direct numerical simulation. It is seen that two mechanisms compete to generate the droplets: fingering at the tip of the waves and hole formation in the thin liquid sheet. The three dimensional liquid structures are much shorter than the longitudinal wavelength of the instability at the first instant of their formation. As time evolves, the structures evolves to larger and larger scales, in a way similar to the inverse cascade of length scales in droplet impact and impact crown formation.

  3. Inverse strategies for molecular design

    International Nuclear Information System (INIS)

    An 'inverse' molecular design strategy is described to assist in the development of new molecules with optimized properties. This approach is based on a molecular orbital view and can be used to tailor ground state or excited state properties subject to particular constrains. In this scheme, wave functions are sought that optimize a chemical or electronic property, and then a Hamiltonian is constructed that generates these optimized wave functions. Analysis of the chemical properties in the optimized systems may suggest new synthetic targets. Examples are presented that optimize the transition dipole moment in some simple structures. 15 refs., 6 figs

  4. Inverse Problems in Structural Mechanics

    OpenAIRE

    Li, Jing

    2005-01-01

    This dissertation deals with the solution of three inverse problems in structural mechanics. The first one is load updating for finite element models (FEMs). A least squares fitting is used to identify the load parameters. The basic studies are made for geometrically linear and nonlinear FEMs of beams or frames by using a four-noded curved beam element, which, for a given precision, may significantly solve the ill-posed problem by reducing the overall number of degrees of freedom (DOF) of t...

  5. High dimensional linear inverse modelling

    CERN Document Server

    Cooper, Fenwick C

    2015-01-01

    We introduce and demonstrate two linear inverse modelling methods for systems of stochastic ODE's with accuracy that is independent of the dimensionality (number of elements) of the state vector representing the system in question. Truncation of the state space is not required. Instead we rely on the principle that perturbations decay with distance or the fact that for many systems, the state of each data point is only determined at an instant by itself and its neighbours. We further show that all necessary calculations, as well as numerical integration of the resulting linear stochastic system, require computational time and memory proportional to the dimensionality of the state vector.

  6. MIT inverse Compton source concept

    OpenAIRE

    Graves, William S.; Brown, W.; Kaertner, Franz X.; Moncton, David E.

    2009-01-01

    A compact X-ray source based on inverse Compton scattering of a high-power laser on a high-brightness linac beam is described. The facility can operate in two modes: at high (MHz) repetition rate with flux and brilliance similar to that of a beamline at a large 2nd generation synchrotron, but with short ∼1 ps pulses, or as a 10 Hz high flux-per-pulse single-shot machine. It has a small footprint and low cost appropriate for university or industry laboratories. The key enabling technologies ar...

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

    Directory of Open Access Journals (Sweden)

    Artoni Roberto F

    2011-07-01

    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.

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

    Science.gov (United States)

    2011-01-01

    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. PMID:21787398

  9. Identification of a high frequency of chromosomal rearrangements in the centromeric regions of prostate cancer patients

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    The aim of the present investigation was to study the major chromosomal aberrations (CA) like deletion, translocation,inversion and mosaic in prostate cancer patients of Tamilnadu, Southern India. Totally 45 blood samples were collected from various hospitals in Tamilnadu, Southern India. Equal numbers of normal healthy subjects were chosen after signing a consent form. Volunteers provided blood samples (5 ml) to establish leukocyte cultures. Cytogenetic studies were performed by using Giemsa-banding technique and finally the results were ensured by spectral karyotyping (SKY) technique. In the present investigation, major CA like deletion, translocation, inversion and mosaic were identified in experimental subjects. Results showed frequent CA in chromosomes 1, 3, 5, 6, 7, 9, 13, 16, 18 and X. In comparison with experimental subjects, the control subjects exhibited very low levels of major CA (P<0.05). In the present study, the high frequency of centromeric rearrangements indicates a potential role for mitotic irregularities associated with the centromere in prostate cancer tumorigenesis. Identification of chromosome alterations may be helpful in understanding the molecular basis of the disease in better manner.

  10. Non-disjunction of chromosome 13

    DEFF Research Database (Denmark)

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

    2007-01-01

    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 that...

  11. Chromosome number9 specific repetitive DNA sequence

    International Nuclear Information System (INIS)

    Human repetitive DNA libraries have been constructed and various recombinant DNA clones isolated that are likely candidates for chromosome specific sequences. The first clone tested (pHuR 98; plasmid human repeat 98) was biotinylated and hybridized to human chromosomes in situ. The hybridized recombinant probe was detected with fluoresceinated avidin, and chromosomes were counter-stained with either propidium iodide or distamycin-DAPI. Specific hybridization to chromosome band 9q1 was obtained. The localization was confirmed by hybridizing radiolabeled pHuR 98 DNA to human chromosomes sorted by flow cytometry. Various methods, including orthogonal field pulsed gel electrophoresis analysis indicate that 75 kilobase blocks of this sequence are interspersed with other repetitive DNA sequences in this chromosome band. This study is the first to report a human repetitive DNA sequence uniquely localized to a specific chromosome. This clone provides an easily detected and highly specific chromosomal marker for molecular cytogenetic analyses in numerous basic research and clinical studies

  12. Chromosomal characterization of Pseudonannolene strinatii (Spirostreptida, Pseudonannolenidae

    Directory of Open Access Journals (Sweden)

    Kleber Agari Campos

    2004-03-01

    Full Text Available The chromosomes of the cave millipede Pseudonannolene strinatii Mauriès, 1974 were investigated. The diploid chromosome number was found to be 2n=16, XX/XY; the C-banding technique revealed a large amount of heterochromatin while the silver staining technique (Ag-NOR evidenced the presence of heteromorphism of the NORs in some cells.

  13. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

    Directory of Open Access Journals (Sweden)

    Maria Maurer

    2015-07-01

    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.

  14. Genomic Dark Matter Illuminated: Anopheles Y Chromosomes.

    Science.gov (United States)

    Redmond, Seth N; Neafsey, Daniel E

    2016-08-01

    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. PMID:27263828

  15. Physical map of the Bacillus cereus chromosome.

    OpenAIRE

    Kolstø, A B; Grønstad, A; Oppegaard, H

    1990-01-01

    A physical map of the Bacillus cereus chromosome has been constructed by aligning 11 NotI fragments, ranging in size from 200 to 1,300 kilobases. The size of the chromosome is about 5.7 megabases. This is the first Bacillus genome of which a complete physical map has been described.

  16. Compositions for chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    1998-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

  17. LHC Report: 2 inverse femtobarns!

    CERN Multimedia

    Mike Lamont for the LHC Team

    2011-01-01

    The LHC is enjoying a confluence of twos. This morning (Friday 5 August) we passed 2 inverse femtobarns delivered in 2011; the peak luminosity is now just over 2 x1033 cm-2s-1; and recently fill 2000 was in for nearly 22 hours and delivered around 90 inverse picobarns, almost twice 2010's total.   In order to increase the luminosity we can increase of number of bunches, increase the number of particles per bunch, or decrease the transverse beam size at the interaction point. The beam size can be tackled in two ways: either reduce the size of the injected bunches or squeeze harder with the quadrupole magnets situated on either side of the experiments. Having increased the number of bunches to 1380, the maximum possible with a 50 ns bunch spacing, a one day meeting in Crozet decided to explore the other possibilities. The size of the beams coming from the injectors has been reduced to the minimum possible. This has brought an increase in the peak luminosity of about 50% and the 2 x 1033 cm...

  18. MOSES Inversions using Multiresolution SMART

    Science.gov (United States)

    Rust, Thomas; Fox, Lewis; Kankelborg, Charles; Courrier, Hans; Plovanic, Jacob

    2014-06-01

    We present improvements to the SMART inversion algorithm for the MOSES imaging spectrograph. MOSES, the Multi-Order Solar EUV Spectrograph, is a slitless extreme ultraviolet spectrograph designed to measure cotemporal narrowband spectra over a wide field of view via tomographic inversion of images taken at three orders of a concave diffraction grating. SMART, the Smooth Multiplicative Algebraic Reconstruction Technique, relies on a global chi squared goodness of fit criterion, which enables overfit and underfit regions to "balance out" when judging fit quality. "Good" reconstructions show poor fits at some positions and length scales. Here we take a multiresolution approach to SMART, applying corrections to the reconstruction at positions and scales where correction is warranted based on the noise. The result is improved fit residuals that more closely resemble the expected noise in the images. Within the multiresolution framework it is also easy to include a regularized deconvolution of the instrument point spread functions, which we do. Different point spread functions among MOSES spectral orders results in spurious doppler shifts in the reconstructions, most notable near bright compact emission. We estimate the point spread funtions from the data. Deconvolution is done using the Richardson-Lucy method, which is algorithmically similar to SMART. Regularization results from only correcting the reconstruction at positions and scales where correction is warranted based on the noise. We expect the point spread function deconvolution to increase signal to noise and reduce systematic error in MOSES reconstructions.

  19. Instrument developments for inverse photoemission

    International Nuclear Information System (INIS)

    Experimental developments principally concerning electron sources for inverse photoemission are presented. The specifications of the electron beam are derived from experiment requirements, taking into account the limitations encountered (space charge divergence). For a wave vector resolution of 0.2 A-1, the maximum current is 25 microA at 20 eV. The design of a gun providing such a beam in the range 5 to 50 eV is presented. Angle-resolved inverse photoemission experiments show angular effects at 30 eV. For an energy of 10 eV, angular effects should be stronger, but the low efficiency of the spectrometer in this range makes the experiments difficult. The total energy resolution of 0.3 eV is the result mainly of electron energy spread, as expected. The electron sources are based on field effect electron emission from a cathode consisting of a large number of microtips. The emission arises from a few atomic cells for each tip. The ultimate theoretical energy spread is 0.1 eV. This value is not attained because of an interface resistance problem. A partial solution of this problem allows measurement of an energy spread of 0.9 eV for a current of 100 microA emitted at 60 eV. These cathodes have a further advantage in that emission can occur at a low temperature

  20. The seismic reflection inverse problem

    International Nuclear Information System (INIS)

    The seismic reflection method seeks to extract maps of the Earth's sedimentary crust from transient near-surface recording of echoes, stimulated by explosions or other controlled sound sources positioned near the surface. Reasonably accurate models of seismic energy propagation take the form of hyperbolic systems of partial differential equations, in which the coefficients represent the spatial distribution of various mechanical characteristics of rock (density, stiffness, etc). Thus the fundamental problem of reflection seismology is an inverse problem in partial differential equations: to find the coefficients (or at least some of their properties) of a linear hyperbolic system, given the values of a family of solutions in some part of their domains. The exploration geophysics community has developed various methods for estimating the Earth's structure from seismic data and is also well aware of the inverse point of view. This article reviews mathematical developments in this subject over the last 25 years, to show how the mathematics has both illuminated innovations of practitioners and led to new directions in practice. Two themes naturally emerge: the importance of single scattering dominance and compensation for spectral incompleteness by spatial redundancy. (topical review)

  1. Inverse problems in systems biology

    International Nuclear Information System (INIS)

    Systems biology is a new discipline built upon the premise that an understanding of how cells and organisms carry out their functions cannot be gained by looking at cellular components in isolation. Instead, consideration of the interplay between the parts of systems is indispensable for analyzing, modeling, and predicting systems' behavior. Studying biological processes under this premise, systems biology combines experimental techniques and computational methods in order to construct predictive models. Both in building and utilizing models of biological systems, inverse problems arise at several occasions, for example, (i) when experimental time series and steady state data are used to construct biochemical reaction networks, (ii) when model parameters are identified that capture underlying mechanisms or (iii) when desired qualitative behavior such as bistability or limit cycle oscillations is engineered by proper choices of parameter combinations. In this paper we review principles of the modeling process in systems biology and illustrate the ill-posedness and regularization of parameter identification problems in that context. Furthermore, we discuss the methodology of qualitative inverse problems and demonstrate how sparsity enforcing regularization allows the determination of key reaction mechanisms underlying the qualitative behavior. (topical review)

  2. Quantumlike chaos in the frequency distributions of bases A, C, G, T in human chromosome1 DNA

    OpenAIRE

    Selvam, A. M.

    2002-01-01

    Recent studies of DNA sequence of letters A, C, G and T exhibit the inverse power law form. Inverse power-law form of the power spectra of fractal space-time fluctuations is generic to the dynamical systems in nature and is identified as self-organized criticality. In this study it is shown that the power spectra of the frequency distributions of bases A, C, G, T in the Human chromosome 1 DNA exhibit self-organized criticality. DNA is a quasicrystal possessing maximum packing efficiency in a ...

  3. Mapping of human chromosomal regions related to neoplasia: evidence from chromosomes 1 and 17

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1977-12-01

    In clonal aberrations leading to an excess or partial excess of chromosome I, trisomy for bands 1q25-1q32 was noted in the myeloid cells from all of 34 patients who had various disorders such as acute leukemia, polycythemia vera, and myelofibrosis. This was not the result of a particularly fragile site in that region of the chromosome because the break points in reciprocal translocations that involve it occurred almost exclusively in the short arm. Two consistent rearrangements that have been observed in chromosome 17 produced either duplication of the entire long arm or a translocation of the distal portion of the long arm to chromosome 15. The nonrandom chromosomal changes found in hematologic disorders can now be correlated with the gene loci on these chromosomes or chromosomal segments. Seventy-five genes related to various metabolic enzymes have been mapped; it may be significant that chromosomes carrying gene loci related to nucleic acid metabolism are more frequently involved in hematologic disorders (and other malignancies as well) than are gene loci related to intermediary or carbohydrate metabolism. Furthermore, the known virus-human chromosome associations are closely correlated with the chromosomes affected in hematologic disorders. If one of the effects of carcinogens (including viruses) is to activate genes that regulate host cell DNA synthesis, and if translocations or duplications of specific chromosomal segments produce the same effect, then either of these mechanisms might provide the affected cell with a proliferative advantage.

  4. Genetic conflict and sex chromosome evolution

    Science.gov (United States)

    Meiklejohn, Colin D; Tao, Yun

    2009-01-01

    Chromosomal sex determination systems create the opportunity for the evolution of selfish genetic elements that increase the transmission of one sex chromosome at the expense of its homolog. Because such selfish elements on sex chromosomes can reduce fertility and distort the sex ratio of progeny, unlinked suppressors are expected to evolve, bringing different regions of the genome into conflict over the meiotic transmission of the sex chromosomes. Here we argue that recurrent genetic conflict over sex chromosome transmission is an important evolutionary force that has shaped a wide range of seemingly disparate phenomena including the epigenetic regulation of genes expressed in the germline, the distribution of genes in the genome, and the evolution of hybrid sterility between species. PMID:19931208

  5. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

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

    2001-03-01

    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.

  6. Cylindrical Field Effect Transistor: A Full Volume Inversion Device

    KAUST Repository

    Fahad, Hossain M.

    2010-12-01

    The increasing demand for high performance as well as low standby power devices has been the main reason for the aggressive scaling of conventional CMOS transistors. Current devices are at the 32nm technology node. However, due to physical limitations as well as increase in short-channel effects, leakage, power dissipation, this scaling trend cannot continue and will eventually hit a barrier. In order to overcome this, alternate device topologies have to be considered altogether. Extensive research on ultra thin body double gate FETs and gate all around nanowire FETs has shown a lot of promise. Under strong inversion, these devices have demonstrated increased performance over their bulk counterparts. This is mainly attributed to full carrier inversion in the body. However, these devices are still limited by lithographic and processing challenges making them unsuitable for commercial production. This thesis explores a unique device structure called the CFET (Cylindrical Field Effect Transistors) which also like the above, relies on complete inversion of carriers in the body/bulk. Using dual gates; an outer and an inner gate, full-volume inversion is possible with benefits such as enhanced drive currents, high Ion/Ioff ratios and reduced short channel effects.

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

    Indian Academy of Sciences (India)

    Walther Traut

    2010-09-01

    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.

  8. Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

    Science.gov (United States)

    Bachtrog, Doris

    2013-02-01

    The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome. PMID:23329112

  9. Directly labeled fluorescent DNA probes for chromosome mapping

    Energy Technology Data Exchange (ETDEWEB)

    Marrone, B.L.; Deaven, L.L.; Chen, D.J.; Park, Min S.; MacInnes, M.A.; Salzman, G.C.; Yoshida, T.M.

    1995-12-31

    A new strategy is briefly described for employing nucleic acid probes that are directly labeled with fluorochromes in fluorescence in situ hybridization techniques. These probes will permit the detection, quantitation, and high-precision spatial analysis of multiple DNA sequences along a single chromosome using video-enhanced fluorescence microscopy and digital image processing and analysis. Potential advantages of direct labeled DNA probes for fluorescence in situ hybridization far surpass currently available, indirect DNA probe labeling techniques in ease of use, versatility, and increased signal- to-noise ratio.

  10. Karyotype evolution in monitor lizards: cross-species chromosome mapping of cDNA reveals highly conserved synteny and gene order in the Toxicofera clade.

    Science.gov (United States)

    Srikulnath, Kornsorn; Uno, Yoshinobu; Nishida, Chizuko; Matsuda, Yoichi

    2013-12-01

    The water monitor lizard (Varanus salvator macromaculatus (VSA), Platynota) has a chromosome number of 2n = 40: its karyotype consists of 16 macrochromosomes and 24 microchromosomes. To delineate the process of karyotype evolution in V. salvator macromaculatus, we constructed a cytogenetic map with 86 functional genes and compared it with those of the butterfly lizard (Leiolepis reevesii rubritaeniata (LRE); 2n = 36) and Japanese four-striped rat snake (Elaphe quadrivirgata (EQU); 2n = 36), members of the Toxicofera clade. The syntenies and gene orders of macrochromosomes were highly conserved between these species except for several chromosomal rearrangements: eight pairs of VSA macrochromosomes and/or chromosome arms exhibited homology with six pairs of LRE macrochromosomes and eight pairs of EQU macrochromosomes. Furthermore, the genes mapped to microchromosomes of three species were all located on chicken microchromosomes or chromosome 4p. No reciprocal translocations were found in the species, and their karyotypic differences were caused by: low frequencies of interchromosomal rearrangements, such as tandem fusions, or centric fissions/fusions between macrochromosomes and between macro- and microchromosomes; and intrachromosomal rearrangements, such as paracentric inversions or centromere repositioning. The chromosomal rearrangements that occurred in macrochromosomes of the Varanus lineage were also identified through comparative cytogenetic mapping of V. salvator macromaculatus and V. exanthematicus. Morphologic differences in chromosomes 6-8 between the two species could have resulted from pericentric inversion or centromere repositioning. PMID:24343421

  11. Solution for Ill-Posed Inverse Kinematics of Robot Arm by Network Inversion

    Directory of Open Access Journals (Sweden)

    Takehiko Ogawa

    2010-01-01

    Full Text Available In the context of controlling a robot arm with multiple joints, the method of estimating the joint angles from the given end-effector coordinates is called inverse kinematics, which is a type of inverse problems. Network inversion has been proposed as a method for solving inverse problems by using a multilayer neural network. In this paper, network inversion is introduced as a method to solve the inverse kinematics problem of a robot arm with multiple joints, where the joint angles are estimated from the given end-effector coordinates. In general, inverse problems are affected by ill-posedness, which implies that the existence, uniqueness, and stability of their solutions are not guaranteed. In this paper, we show the effectiveness of applying network inversion with regularization, by which ill-posedness can be reduced, to the ill-posed inverse kinematics of an actual robot arm with multiple joints.

  12. Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

    Science.gov (United States)

    Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinovic, Lejla; Konjhodzic, Rijad

    2015-01-01

    Aim: The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification. Combined use of the mentioned methods improves the quality of the final findings in the diagnostics of chromosomal abnormalities, with classical cytogenetic methods still occupying the central spot. Material and methods: Conducted research represent retrospective-prospective study of a four year period, from 2008 through 2011. In the period stated, 1319 karyotyping from amniotic fluid were conducted, along with 146 FISH analysis. Results: Karyotyping had detected 20 numerical and 18 structural aberrations in that period. Most common observed numerical aberration were Down syndrome (75%), Klinefelter syndrome (10%), Edwards syndrome, double Y syndrome and triploidy (5% each). Within observed structural aberrations more common were balanced chromosomal aberrations then non balanced ones. Most common balanced structural aberrations were as follows: reciprocal translocations (60%), Robertson translocations (13.3%), chromosomal inversions, duplications and balanced de novo chromosomal rearrangements (6.6% each). Conclusion: With non- balanced aberrations observed in the samples of amniotic fluid, non- balanced translocations, deletions and derived chromosomes were equally represented. Number of detected aneuploidies with FISH, prior to obtaining results with karyotyping, were 6. PMID:26005269

  13. Polytene chromosomes of Chironomidae (Diptera as a bioassay of trace-metal-induced genome instability

    Directory of Open Access Journals (Sweden)

    Paraskeva Vladimirova Michailova

    2012-10-01

    Full Text Available Chironomids are a ubiquitous group of aquatic insects that are very sensitive to environmental stress. Due to the presence of polytene (‘giant’ salivary gland chromosomes, it is possible to define the genome response of several Chironomid species to various stress agents. The aim of this study was to assess the genotoxic changes in populations of widely distributed chironomid species from aquatic basins in Bulgaria, Italy, Russia, U.K. and Poland, which were exposed to high concentrations of trace metals. We analyzed the structural and functional alterations of polytene chromosomes of the salivary glands of larvae belonging to three different cytocomplexes of the genus Chironomus (“thummi”, “lacunarius”, “pseudothummi”, and genera Glyptotendipes and Kiefferulus. Somatic structural chromosome rearrangements (para- and pericentric heterozygous inversions, deletions, deficiencies and amplifications were used to estimate a Somatic index (S for each population. The highest S indexes were detected in Chironomus riparius populations from locations with high concentrations of trace metals in the sediment. Each species showed specific genome responses to stress agents which we discussed in the light of the specific DNA structures and cytogenetic characteristics of the species. In larvae from polluted sediments two key structures of the salivary gland chromosomes (Balbiani Rings and Nucleolar Organizer sharply reduced their activity to levels below those observed under non-polluted conditions. It is concluded that polytene chromosomes can be used as tools for evaluating the genotoxicity of the aquatic environment. Structural and functional chromosome alterations provide cost-effective early-warning signals of genotoxic concentrations of environmental pollutants.doi: 10.5324/fn.v31i0.1355.Published online: 17 October 2012.

  14. Physical and genetic mapping of maize chromosome 9S using mutations with terminal deficiencies

    International Nuclear Information System (INIS)

    Undoubtedly, cytogenetic materials containing chromosomal alterations, such as translocation, and inversions derived from X ray irradiation or other means have made a tremendous contribution to our understanding of chromosome behaviour in plants. In maize, such materials have been applied to gene mapping and linkage group assignment dating back to the 1930s. The fate of the chromosomes with broken ends has been examined and it was found that when a chromatid is broken at meiotic anaphase fusion will occur between the two sister halves of this chromatid and a bridge will re-form during the following mitotic anaphase. This process is referred to as the breakage-fusion-bridge cycle. It has also been demonstrated that this cycle will continue in all subsequent gametophytic and endosperm mitoses following its origin at meiotic anaphase. However, this cycle will cease when the broken chromosome enters the zygote. The broken end heals permanently, since no further fusion and breakage are found in sporophytic mitoses or any other tissues of later generations. A series of terminal deficient mutants involving the short arm of chromosome 9 derived from the breakage-fusion-bridge cycle has been used to determine the physical order of genes for pale yellow (pyd1), yellow-green (yg2) and while (wd1) seedlings. The purpose of this present study was to use a series of terminal deficient materials reported by McClintock in order to establish the physical order of six RFLP markers and five morphological markers located at the distal end of chromosome 9S. 13 refs

  15. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

    Directory of Open Access Journals (Sweden)

    Quimsiyeh Mazin

    2008-12-01

    Full Text Available Abstract Background In routine Assisted Reproductive Technology (ART men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. Methods From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG. Chromosome and DNA studies of the fetus were realized on cultured amniocytes Results Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9(p22.1p24 [arrCGH 9p22.1p24 (RP11-130C19 → RP11-87O1x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia. Conclusion This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance.

  16. A rare prenatal case with two de novo inversions and a translocation: 48, XX,t(9;12)(q32;p24.3), inv(11)(p15.1q25), inv(13)(q12.q22)

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, B.; Balaban, L.; Eldred, C. [Albany Medical College, Albany, NY (United States)] [and others

    1994-09-01

    Ultrasound examination of a para 1, gravida 2, 26 y.o. showed severe hydrocephalus and polyhydramnios. Amniocentesis was performed at 27 weeks. High resolution chromosome analysis revealed a karyotype with a 9;12 translocation, a pericentric inversion of chromosome 11, and a paracentric inversion of chromosome 13. Parental chromosome studies were normal. The mother was not on medication prior to her pregnancy and there was no known exposure to radiation. Delivery was at 34 weeks gestation. The phenotype consisted of micrognathia, low set ears, hypertelorism, and hydrodcephaly. Review of the literature revealed a single report with multiple de novo aberrations consisting of a 6;14 translocation and a deleted 7. This was diagnosed in the child of a woman with systemic lupus erythematous treated with azathioprine. These types of abnormalities have been known to be induced by chemical and radiation exposure. High resolution banding combined with molecular studies presently improve our ability to detect subtle structural aberrations.

  17. Transillumination spatially modulated illumination microscopy for human chromosome imaging

    Science.gov (United States)

    Pitris, Costas; Heracleous, Peter; Patsalis, Philippos

    2005-03-01

    Human chromosome analysis is an essential task in cytogenetics, especially in prenatal screening, genetic syndrome diagnosis, cancer pathology research and mutagen dosimetry. Chromosomal analysis begins with the creation of a karyotype, which is a layout of chromosome images organized by decreasing size in pairs. Both manual and automatic classification of chromosomes are limited by the resolution of the microscope and imaging system used. One way to improve the results of classification and even detect subtleties now remaining undetected, is to enhance the resolution of the images. It is possible to achieve lateral resolution beyond the classical limit, by using spatially modulated illumination (SMI) in a wide-field, non-confocal microscope. In this case, the sample is illuminated with spatially modulated light, which makes normally inaccessible high-resolution information visible in the observed image by shifting higher frequencies within the OTF limits of the microscope. Although, SMI microscopes have been reported in the past, this manuscript reports the development of a transillumination microscope for opaque, non-fluorescent samples. The illumination path consisted of a light source illuminating a ruled grating which was subsequently imaged on the sample. The grating was mounted on a rotating and translating stage so that the magnification and rotation of the pattern could be adjusted. The imaging lens was a 1.25 NA oil immersion objective. Test samples showed resolution improvement, as judged from a comparison of the experimentally obtained FWHM. Further studies using smaller fringe distance or laser interference pattern illumination will be evaluated to further optimize the SMI results.

  18. Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal.

    OpenAIRE

    Watson, J M; Spencer, J. A.; Riggs, A D; Graves, J.A.

    1991-01-01

    To investigate the evolution of the mammalian sex chromosomes, we have compared the gene content of the X chromosomes in the mammalian groups most distantly related to man (marsupials and monotremes). Previous work established that genes on the long arm of the human X chromosome are conserved on the X chromosomes in all mammals, revealing that this region was part of an ancient mammalian X chromosome. However, we now report that several genes located on the short arm of the human X chromosome...

  19. Optimization and inverse problems in electromagnetism

    CERN Document Server

    Wiak, Sławomir

    2003-01-01

    From 12 to 14 September 2002, the Academy of Humanities and Economics (AHE) hosted the workshop "Optimization and Inverse Problems in Electromagnetism". After this bi-annual event, a large number of papers were assembled and combined in this book. During the workshop recent developments and applications in optimization and inverse methodologies for electromagnetic fields were discussed. The contributions selected for the present volume cover a wide spectrum of inverse and optimal electromagnetic methodologies, ranging from theoretical to practical applications. A number of new optimal and inverse methodologies were proposed. There are contributions related to dedicated software. Optimization and Inverse Problems in Electromagnetism consists of three thematic chapters, covering: -General papers (survey of specific aspects of optimization and inverse problems in electromagnetism), -Methodologies, -Industrial Applications. The book can be useful to students of electrical and electronics engineering, computer sci...

  20. Statistical Inversion of Seismic Noise Inversion statistique du bruit sismique

    Directory of Open Access Journals (Sweden)

    Adler P. M.

    2006-11-01

    Full Text Available A systematic investigation of wave propagation in random media is presented. Spectral analysis, inversion of codas and attenuation of the direct wave front are studied for synthetic data obtained in isotropic or anisotropic, 2D or 3D media. A coda inversion process is developed and checked on two sets of real data. In both cases, it is possible to compare the correlation lengths obtained by inversion to characteristic lengths measured on seismic logs, for the full scale seismic survey, or on a thin section, for the laboratory experiment. These two experiments prove the feasibility and the efficiency of the statistical inversion of codas. Correct characteristic lengths can be obtained which cannot be determined by another method. Le problème de la géophysique est la recherche d'informations concernant le sous-sol, dans des signaux sismiques enregistrés en surface ou dans des puits. Ces informations sont habituellement recherchées sous forme déterministe, c'est-à-dire sous la forme de la donnée en chaque point d'une valeur du paramètre étudié. Notre point de vue est différent puisque notre objectif est de déduire certaines propriétés statistiques du milieu, supposé hétérogène, à partir des sismogrammes enregistrés après propagation. Il apparaît alors deux moyens de remplir l'objectif fixé. Le premier est l'analyse spectrale des codas ; cette analyse permet de déterminer les tailles moyennes des hétérogénéités du sous-sol. La deuxième possibilité est l'étude de l'atténuation du front direct de l'onde, qui conduit aussi à la connaissance des longueurs caractéristiques du sous-sol ; contrairement à la première méthode, elle ne semble pas pouvoir être transposée efficacement à des cas réels. Dans la première partie, on teste numériquement la proportionnalité entre le facteur de rétrodiffraction, relié aux propriétés statistiques du milieu, et le spectre des codas. Les distributions de vitesse, à valeur