Science.gov

Sample records for fish-specific duplicated dmrt2b

  1. Evolutionary sequenomics: The utility of comparative chromosomal synteny searches in revealing homologous DNA blocks derived from fish-specific 3R- and 4R-genome duplications

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Most Actinopterygian fishes are believed to have arisen from a whole genome duplication approximately 275-350 MYA (3R duplication). Within the teleosts, several orders possess additional species that have undergone either an additional whole genome autopolyploid duplication (4R duplication), or are...

  2. [Duodenal duplication].

    PubMed

    Ilari, J; Martorell, R; Morales, M; Capdevila, M; Mairal, J A; Teixidó, M; Casadellá, A

    1998-01-01

    Cystic duplication of the duodenum is a rare anomaly of the gastrointestinal tract. This is a report of a newborn with a cystic duplication of duodenum diagnosed prenatally. It's relevant the few clinical symptoms of a such big mass. The surgical procedure was excision of the cyst, with a good post operative curse. PMID:9662869

  3. Caudal duplication syndrome.

    PubMed

    Ramzan, Muhammad; Ahmed, Shoaib; Ali, Salman

    2014-01-01

    Complete duplication of genitourinary system, colon and vertebral column is a very rare and complex congenital condition termed as "caudal duplication syndrome" with variable presentations. This term is often quoted as a type of incomplete separation of mono-ovular twins or conjoined twinning. It is associated with other congenital malformations of the genitourinary, gastrointestinal and other organ systems. The hereby reported case, a 3-month-old male infant had presented with the classical form of the disease i.e., duplication of the gastrointestinal, genitourinary system and vertebral column with anterior abdominal wall hernia and a large lipomeningocele. PMID:24411548

  4. Typewriting: Toward Duplicating Success

    ERIC Educational Resources Information Center

    Orsborn, Karen J.

    1977-01-01

    A description of two projects (secretarial handbook and memo pad and personalized stationery) for use in teaching the duplication process that will capture the interests of students in an advanced typewriting class. (HD)

  5. Interstitial duplication 19p

    SciTech Connect

    Stratton, R.F.; DuPont, B.R.; Moore, C.M.

    1995-07-17

    We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs). Use of fluorescent in situ hybridization (FISH) with chromosome 19- specific probes showed a direct duplication of bands 19p13.13 and 19p13.2. 6 refs., 1 fig.

  6. Comparative genomics provides evidence for an ancient genome duplication event in fish.

    PubMed Central

    Taylor, J S; Van de Peer, Y; Braasch, I; Meyer, A

    2001-01-01

    There are approximately 25 000 species in the division Teleostei and most are believed to have arisen during a relatively short period of time ca. 200 Myr ago. The discovery of 'extra' Hox gene clusters in zebrafish (Danio rerio), medaka (Oryzias latipes), and pufferfish (Fugu rubripes), has led to the hypothesis that genome duplication provided the genetic raw material necessary for the teleost radiation. We identified 27 groups of orthologous genes which included one gene from man, mouse and chicken, one or two genes from tetraploid Xenopus and two genes from zebrafish. A genome duplication in the ancestor of teleost fishes is the most parsimonious explanation for the observations that for 15 of these genes, the two zebrafish orthologues are sister sequences in phylogenies that otherwise match the expected organismal tree, the zebrafish gene pairs appear to have been formed at approximately the same time, and are unlinked. Phylogenies of nine genes differ a little from the tree predicted by the fish-specific genome duplication hypothesis: one tree shows a sister sequence relationship for the zebrafish genes but differs slightly from the expected organismal tree and in eight trees, one zebrafish gene is the sister sequence to a clade which includes the second zebrafish gene and orthologues from Xenopus, chicken, mouse and man. For these nine gene trees, deviations from the predictions of the fish-specific genome duplication hypothesis are poorly supported. The two zebrafish orthologues for each of the three remaining genes are tightly linked and are, therefore, unlikely to have been formed during a genome duplication event. We estimated that the unlinked duplicated zebrafish genes are between 300 and 450 Myr. Thus, genome duplication could have provided the genetic raw material for teleost radiation. Alternatively, the loss of different duplicates in different populations (i.e. 'divergent resolution') may have promoted speciation in ancient teleost populations

  7. Perspectives on Program Duplication

    ERIC Educational Resources Information Center

    Morrison, Gail M.

    2010-01-01

    Concerns about program duplication in higher education are often reminiscent of Supreme Court Justice Potter Stewart's now famous remark about pornography: "I know it when I see it." The problem with that reaction is that, at least on its surface, this response seems intuitive and emotional, to say nothing of subjective and personal. The fact is…

  8. Current Duplicating Processes

    ERIC Educational Resources Information Center

    Groneman, Nancy

    1978-01-01

    While business instructors are still teaching spirit and stencil duplicating processes, most businesses now use copiers or offset printing processes. The article discusses offset and copier skills needed by office workers, pointing out that the processes being taught should be compatible with those used in business. (MF)

  9. A Duplicate Construction Experiment.

    ERIC Educational Resources Information Center

    Bridgeman, Brent

    This experiment was designed to assess the ability of item writers to construct truly parallel tests based on a "duplicate-construction experiment" in which Cronbach argues that if the universe description and sampling are ideally refined, the two independently constructed tests will be entirely equivalent, and that within the limits of item…

  10. Duplication Is Ubiquitous

    ERIC Educational Resources Information Center

    Tenopir, Carol

    2005-01-01

    This article discusses how Phil Davis, Life Sciences Bibliographer at Cornell University, found duplicate articles in Emerald/MCB University Press journals. According to Davis, he has found hundreds of examples of the same article published in more than one journal in at least 73 Emerald/MCB journals over 30 years. This article gives the details…

  11. Duplicity and Masses

    NASA Astrophysics Data System (ADS)

    Pourbaix, D.

    2005-01-01

    Duplicity is still the only hypothesis-free method to derive stellar masses. Whereas other techniques such as asteroseismology rely upon some stellar model, orbits of binary stars yield quantities directly related to either the sum of the masses or the individual masses of the two components. However, in order to derive those individual masses, it is necessary to combine at least two types of observations, e.g., visual and spectroscopic or photometric and spectroscopic. Gaia will make the three of them available but their combination will be an efficient source of masses for sub-groups of binaries only. For instance, given the precision of the radial velocities, how many orbital visual binaries (for which the mass sum is therefore accessible) will lead to a spectroscopic orbit required to derive the mass ratio and thus the individual masses?

  12. Complete colonic duplication in children

    PubMed Central

    Khaleghnejad Tabari, Ahmad; Mirshemirani, Alireza; Khaleghnejad Tabari, Nasibeh

    2012-01-01

    Background: Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in 15% of gastrointestinal duplication. We report two cases of complete colonic duplications, and their characteristics. Case Presentation: We present two patients with complete colonic duplication with different types and presentations. Case 1: A 2- year old boy presented to the clinic with abdominal protrusion, difficulty to defecate, chronic constipation and mucosal prolaps covered bulging (rectocele) since he was 6 months old. The patient had palpable pelvic mass with doughy consistency. Rectal exam confirmed perirectal mass with soft consistency. The patient underwent a surgical operation that had total tubular colorectal duplication with one blind end and was treated with simple fenestration of distal end, and was discharged without complication. After two years follow up, he had normal defecation and good weight gain. Case 2: A 2 –day old infant was referred with imperforate anus and complete duplication of recto-sigmoid colon, diphallus, double bladder, and hypospadiasis. After clinical and paraclinical investigations, he underwent operations in several stages in different periods, and was discharged without complications. After four years follow up, he led a normal life. Conclusion: The patients with complete duplication have to be examined carefully because of the high incidence of other systemic anomalies. Treatment includes simple resection of distal common wall, fenestration, and repair other associated anomalies. PMID:24358440

  13. Evolution of Gene Duplication in Plants.

    PubMed

    Panchy, Nicholas; Lehti-Shiu, Melissa; Shiu, Shin-Han

    2016-08-01

    Ancient duplication events and a high rate of retention of extant pairs of duplicate genes have contributed to an abundance of duplicate genes in plant genomes. These duplicates have contributed to the evolution of novel functions, such as the production of floral structures, induction of disease resistance, and adaptation to stress. Additionally, recent whole-genome duplications that have occurred in the lineages of several domesticated crop species, including wheat (Triticum aestivum), cotton (Gossypium hirsutum), and soybean (Glycine max), have contributed to important agronomic traits, such as grain quality, fruit shape, and flowering time. Therefore, understanding the mechanisms and impacts of gene duplication will be important to future studies of plants in general and of agronomically important crops in particular. In this review, we survey the current knowledge about gene duplication, including gene duplication mechanisms, the potential fates of duplicate genes, models explaining duplicate gene retention, the properties that distinguish duplicate from singleton genes, and the evolutionary impact of gene duplication. PMID:27288366

  14. Familial inverted duplication 7p

    SciTech Connect

    Schaefer, G.B.; Novak, K.; Steele, D.

    1995-03-27

    A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2{r_arrow}p13 portion of chromosome 7(46,XX,dup(7)(p13p12.2)). The proposita`s older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication. 5 refs., 3 figs., 1 tab.

  15. Duplication. Units of Instruction. Office Duplication Practices. Teacher's Guide.

    ERIC Educational Resources Information Center

    Powell, Theressa

    This teacher's guide is designed for use in helping secondary and postsecondary students in office occupations education programs to become familiar with duplication procedures and machines. Addressed in the individual units of the guide are the following topics: measurement, paper characteristics and classifications, copy preparation for pasteup…

  16. Evolution of alternative splicing after gene duplication.

    PubMed

    Su, Zhixi; Wang, Jianmin; Yu, Jun; Huang, Xiaoqiu; Gu, Xun

    2006-02-01

    Alternative splicing and gene duplication are two major sources of proteomic function diversity. Here, we study the evolutionary trend of alternative splicing after gene duplication by analyzing the alternative splicing differences between duplicate genes. We observed that duplicate genes have fewer alternative splice (AS) forms than single-copy genes, and that a negative correlation exists between the mean number of AS forms and the gene family size. Interestingly, we found that the loss of alternative splicing in duplicate genes may occur shortly after the gene duplication. These results support the subfunctionization model of alternative splicing in the early stage after gene duplication. Further analysis of the alternative splicing distribution in human duplicate pairs showed the asymmetric evolution of alternative splicing after gene duplications; i.e., the AS forms between duplicates may differ dramatically. We therefore conclude that alternative splicing and gene duplication may not evolve independently. In the early stage after gene duplication, young duplicates may take over a certain amount of protein function diversity that previously was carried out by the alternative splicing mechanism. In the late stage, the gain and loss of alternative splicing seem to be independent between duplicates. PMID:16365379

  17. ALTERNATIVES TO DUPLICATE DIET METHODOLOGY

    EPA Science Inventory

    Duplicate Diet (DD) methodology has been used to collect information about the dietary exposure component in the context of total exposure studies. DD methods have been used to characterize the dietary exposure component in the NHEXAS pilot studies. NERL desired to evaluate it...

  18. Automatic 35 mm slide duplicator

    NASA Technical Reports Server (NTRS)

    Seidel, H. F.; Texler, R. E.

    1980-01-01

    Automatic duplicator is readily assembled from conventional, inexpensive equipment and parts. Series of slides can be exposed without operator attention, eliminating considerable manual handling and processing ordinarily required. At end of programmed exposure sequence, unit shuts off and audible alarm signals completion of process.

  19. Office Duplication Practices Curriculum Guide.

    ERIC Educational Resources Information Center

    East Texas State Univ., Commerce. Occupational Curriculum Lab.

    As one of a series of curriculum guides for office education programs in Texas, this guide contains 24 units of instruction in office duplication practices. Each of the units contains a unit outline that lists unit objective, specific objectives, teacher and student activities, estimated completion time, re-teach activities, and resources; and a…

  20. Manipulating duckweed through genome duplication.

    PubMed

    Vunsh, R; Heinig, U; Malitsky, S; Aharoni, A; Avidov, A; Lerner, A; Edelman, M

    2015-01-01

    Significant inter- and intraspecific genetic variation exists in duckweed, thus the potential for genome plasticity and manipulation is high. Polyploidy is recognised as a major mechanism of adaptation and speciation in plants. We produced several genome-duplicated lines of Landoltia punctata (Spirodela oligorrhiza) from both whole plants and regenerating explants using a colchicine-based cocktail. These lines stably maintained an enlarged frond and root morphology. DNA ploidy levels determined by florescence-activated cell sorting indicated genome duplication. Line A4 was analysed after 75 biomass doublings. Frond area, fresh and dry weights, rhizoid number and length were significantly increased versus wild type, while the growth rate was unchanged. This resulted in accumulation of biomass 17-20% faster in the A4 plants. We sought to determine if specific differences in gene products are found in the genome duplicated lines. Non-targeted ultra performance LC-quadrupole time of flight mass spectrometry was employed to compare some of the lines and the wild type to seek identification of up-regulated metabolites. We putatively identified differential metabolites in Line A65 as caffeoyl hexoses. The combination of directed genome duplication and metabolic profiling might offer a path for producing stable gene expression, leading to altered production of secondary metabolites. PMID:25040392

  1. Evaluation of the quality of duplicated radiographs

    SciTech Connect

    Thunthy, K.H.; Weinberg, R.

    1981-04-01

    This experiment evaluated the image quality of duplicated radiographs made at different ultraviolet light exposures. Image quality was measured in terms of ''residual'' film fog, film density, mottle, image contrast, and resolution. The ''residual'' fog density of duplicates decreased with increases in ultraviolet exposures until it was less than the fog density of the original. The density of duplicates decreased with increases in ultraviolet exposures until it leveled off at a certain density, depending on the density of the original film. Mottle was less on lighter duplicates than on darker duplicates. Contrast of duplicates increased initially with increases in ultraviolet exposures and later decreased with further increases in ultraviolet exposures. Resolution of duplicates was nearly the same as the original as long as the duplicate had acceptable ''residual'' fog density.

  2. A partially duplicated discoid lateral meniscus.

    PubMed

    Kim, S J; Lee, Y T; Choi, C H; Kim, D W

    1998-01-01

    Partially duplicated discoid lateral meniscus has not been previously reported. We present a case of a partially duplicated discoid lateral meniscus with a peripheral tear of the meniscus and a concomitant cartilage lesion of the lateral femoral condyle. PMID:9681547

  3. 10 CFR 9.35 - Duplication fees.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 10 Energy 1 2014-01-01 2014-01-01 false Duplication fees. 9.35 Section 9.35 Energy NUCLEAR REGULATORY COMMISSION PUBLIC RECORDS Freedom of Information Act Regulations § 9.35 Duplication fees. (a)(1) The charges by the duplicating service contractor for the duplication of records made available under § 9.21 at the NRC Public Document Room...

  4. Sequence alignment with tandem duplication

    SciTech Connect

    Benson, G.

    1997-12-01

    Algorithm development for comparing and aligning biological sequences has, until recently, been based on the SI model of mutational events which assumes that modification of sequences proceeds through any of the operations of substitution, insertion or deletion (the latter two collectively termed indels). While this model has worked farily well, it has long been apparent that other mutational events occur. In this paper, we introduce a new model, the DSI model which includes another common mutational event, tandem duplication. Tandem duplication produces tandem repeats which are common in DNA, making up perhaps 10% of the human genome. They are responsible for some human diseases and may serve a multitude of functions in DNA regulation and evolution. Using the DSI model, we develop new exact and heuristic algorithms for comparing and aligning DNA sequences when they contain tandem repeats. 30 refs., 3 figs.

  5. [Gastric duplication of 3 observations].

    PubMed

    Bugallo, M; Carauni, D; Serra, E; De los Reyes, C; Briend, S; Valdovinos, B; Lanari, A

    2000-01-01

    Gástric duplicación si an infrequent congenital malformation present in both, neonatal period and childhood, and exceptionally during adulthood. We present here there cases of gastric duplication from patients of different ages, in which it was not possible to make diagnosis before surgery. In all of them cystic form was the predominating one, without communication with gastric lumen (cavity). Diagnosis was performed after laparotomy and histopathological examination. PMID:11086515

  6. Detecting long tandem duplications in genomic sequences

    PubMed Central

    2012-01-01

    Background Detecting duplication segments within completely sequenced genomes provides valuable information to address genome evolution and in particular the important question of the emergence of novel functions. The usual approach to gene duplication detection, based on all-pairs protein gene comparisons, provides only a restricted view of duplication. Results In this paper, we introduce ReD Tandem, a software using a flow based chaining algorithm targeted at detecting tandem duplication arrays of moderate to longer length regions, with possibly locally weak similarities, directly at the DNA level. On the A. thaliana genome, using a reference set of tandem duplicated genes built using TAIR,a we show that ReD Tandem is able to predict a large fraction of recently duplicated genes (dS < 1) and that it is also able to predict tandem duplications involving non coding elements such as pseudo-genes or RNA genes. Conclusions ReD Tandem allows to identify large tandem duplications without any annotation, leading to agnostic identification of tandem duplications. This approach nicely complements the usual protein gene based which ignores duplications involving non coding regions. It is however inherently restricted to relatively recent duplications. By recovering otherwise ignored events, ReD Tandem gives a more comprehensive view of existing evolutionary processes and may also allow to improve existing annotations. PMID:22568762

  7. Chromosome I duplications in Caenorhabditis elegans

    SciTech Connect

    McKim, K.S.; Rose, A.M. )

    1990-01-01

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

  8. Tubular Colonic Duplication Presenting as Rectovestibular Fistula

    PubMed Central

    Bendre, Pradnya; D'souza, Flavia; Ramchandra, Mukunda; Nage, Amol; Palse, Nitin

    2015-01-01

    Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus. PMID:26473141

  9. Tubular Colonic Duplication Presenting as Rectovestibular Fistula.

    PubMed

    Karkera, Parag J; Bendre, Pradnya; D'souza, Flavia; Ramchandra, Mukunda; Nage, Amol; Palse, Nitin

    2015-09-01

    Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus. PMID:26473141

  10. Evolution of the vertebrate paralemmin gene family: ancient origin of gene duplicates suggests distinct functions.

    PubMed

    Hultqvist, Greta; Ocampo Daza, Daniel; Larhammar, Dan; Kilimann, Manfred W

    2012-01-01

    Paralemmin-1 is a protein implicated in plasma membrane dynamics, the development of filopodia, neurites and dendritic spines, as well as the invasiveness and metastatic potential of cancer cells. However, little is known about its mode of action, or about the biological functions of the other paralemmin isoforms: paralemmin-2, paralemmin-3 and palmdelphin. We describe here evolutionary analyses of the paralemmin gene family in a broad range of vertebrate species. Our results suggest that the four paralemmin isoform genes (PALM1, PALM2, PALM3 and PALMD) arose by quadruplication of an ancestral gene in the two early vertebrate genome duplications. Paralemmin-1 and palmdelphin were further duplicated in the teleost fish specific genome duplication. We identified a unique sequence motif common to all paralemmins, consisting of 11 highly conserved residues of which four are invariant. A single full-length paralemmin homolog with this motif was identified in the genome of the sea lamprey Petromyzon marinus and an isolated putative paralemmin motif could be detected in the genome of the lancelet Branchiostoma floridae. This allows us to conclude that the paralemmin gene family arose early and has been maintained throughout vertebrate evolution, suggesting functional diversification and specific biological roles of the paralemmin isoforms. The paralemmin genes have also maintained specific features of gene organisation and sequence. This includes the occurrence of closely linked downstream genes, initially identified as a readthrough fusion protein with mammalian paralemmin-2 (Palm2-AKAP2). We have found evidence for such an arrangement for paralemmin-1 and -2 in several vertebrate genomes, as well as for palmdelphin and paralemmin-3 in teleost fish genomes, and suggest the name paralemmin downstream genes (PDG) for this new gene family. Thus, our findings point to ancient roles for paralemmins and distinct biological functions of the gene duplicates. PMID:22855693

  11. Duplication of the Gallbladder. A Case Report

    PubMed Central

    Desolneux, G.; Mucci, S.; Lebigot, J.; Arnaud, J. P.; Hamy, A.

    2009-01-01

    Gallbladder duplication is a rare anatomic malformation, which can now be detected by preoperative imaging study. We report a case of a symptomatic duplicated gallbladder, successfully treated by laparoscopic cholecystectomy. This anomaly is important to know for surgeons because of associated anatomical variations of main bile duct and hepatic artery and increased risk of common bile duct injury. PMID:19997514

  12. RECENT SEGMENTAL DUPLICATIONS IN THE CATTLE GENOME

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We assessed the content, structure, and distribution of segmental duplications (> or =90% sequence identity, > or =5 kb length) within the newest public version of the Bos taurus genome assembly (bta_3.1). The overall fraction of duplicated sequence within the cattle assembly is approximately equiva...

  13. Did genome duplication drive the origin of teleosts? A comparative study of diversification in ray-finned fishes

    PubMed Central

    Santini, Francesco; Harmon, Luke J; Carnevale, Giorgio; Alfaro, Michael E

    2009-01-01

    Background One of the main explanations for the stunning diversity of teleost fishes (~29,000 species, nearly half of all vertebrates) is that a fish-specific whole-genome duplication event (FSGD) in the ancestor to teleosts triggered their subsequent radiation. However, one critical assumption of this hypothesis, that diversification rates in teleosts increased soon after the acquisition of a duplicated genome, has never been tested. Results Here we show that one of three major diversification rate shifts within ray-finned fishes occurred at the base of the teleost radiation, as predicted by the FSGD hypothesis. We also find evidence for two rate increases that are much younger than the inferred age of the FSGD: one in the common ancestor of most ostariophysan fishes, and a second one in the common ancestor of percomorphs. The biodiversity contained within these two clades accounts for more than 88% of living fish species. Conclusion Teleosts diversified explosively in their early history and this burst of diversification may have been caused by genome duplication. However, the FSGD itself may be responsible for a little over 10% of living teleost biodiversity. ~88% of species diversity is derived from two relatively recent radiations of freshwater and marine fishes where genome duplication is not suspected. Genome duplications are a common event on the tree of life and have been implicated in the diversification of major clades like flowering plants, vertebrates, and gnathostomes. However our results suggest that the causes of diversification in large clades are likely to be complex and not easily ascribed to a single event, even a dramatic one such as a whole genome duplication. PMID:19664233

  14. Evolution of Gene Duplication in Plants1[OPEN

    PubMed Central

    2016-01-01

    Ancient duplication events and a high rate of retention of extant pairs of duplicate genes have contributed to an abundance of duplicate genes in plant genomes. These duplicates have contributed to the evolution of novel functions, such as the production of floral structures, induction of disease resistance, and adaptation to stress. Additionally, recent whole-genome duplications that have occurred in the lineages of several domesticated crop species, including wheat (Triticum aestivum), cotton (Gossypium hirsutum), and soybean (Glycine max), have contributed to important agronomic traits, such as grain quality, fruit shape, and flowering time. Therefore, understanding the mechanisms and impacts of gene duplication will be important to future studies of plants in general and of agronomically important crops in particular. In this review, we survey the current knowledge about gene duplication, including gene duplication mechanisms, the potential fates of duplicate genes, models explaining duplicate gene retention, the properties that distinguish duplicate from singleton genes, and the evolutionary impact of gene duplication. PMID:27288366

  15. ANSYS duplicate finite-element checker routine

    NASA Technical Reports Server (NTRS)

    Ortega, R.

    1995-01-01

    An ANSYS finite-element code routine to check for duplicated elements within the volume of a three-dimensional (3D) finite-element mesh was developed. The routine developed is used for checking floating elements within a mesh, identically duplicated elements, and intersecting elements with a common face. A space shuttle main engine alternate turbopump development high pressure oxidizer turbopump finite-element model check using the developed subroutine is discussed. Finally, recommendations are provided for duplicate element checking of 3D finite-element models.

  16. Should we still be doing duplicate immunoassays?

    PubMed Central

    Lester, E; Corns, C

    1988-01-01

    To determine whether, with improvements in radioimmunoassay techniques, duplication is still necessary, the differences between duplicate results for a range of assays done routinely over one month were examined retrospectively. Differences over 10% between duplicates were found in 104/779 (13%) of assays for thyroid stimulating hormone, 27/180 (15%) for total thyroxine, 44/378 (12%) for cortisol, 15/355 (4%) for follicular stimulating hormone, 20/356 (6%) for luteinising hormone, and none for alpha fetoprotein (0/256). In only two of 779 patients (0.26%) would the different result of a pair of thyroid stimulating hormone duplicates have led to different courses of action by the laboratory. None of the other differences in any assay would have resulted in a potential misclassification. Although replication of assays will give more correct results by pure scientific criteria, the improvement is rarely clinically important and the financial cost is considerable. PMID:2461391

  17. Duplication/deletion of chromosome 8p

    SciTech Connect

    Priest, J.H.

    1995-09-11

    The article by Guo et al. provides evidence for deletion of D8S596 loci (assigned to 8p23) in at least some patients with inverted duplications of 8p. Cytogenetic break points forming the inverted duplication are remarkably similar among most of their patients and those reported previously, suggesting a common mechanism for this interesting rearrangement. Why should similar breaks occur in 8p and why is a FISH signal absent in the distal short arm when the ONCOR digoxigenin-labeled probe for loci D8S596 is used? Other studies also indicate that duplication for the region 8p12-p22 is associated with a deletion distal to the duplication itself. 4 refs.

  18. NASA printing, duplicating, and copying management handbook

    NASA Technical Reports Server (NTRS)

    1993-01-01

    This handbook provides information and procedures for the implementation of NASA policy and applicable laws and regulations relating to printing, duplicating, and copying. The topics addressed include a description of relevant laws and regulations, authorizations required, and responsible entities for NASA printing, duplicating, and copying. The policy of NASA is to ensure understanding and application of authority and responsibility on printing matters. Where necessary, the handbook clarifies the intent of basic laws and regulations applicable to NASA.

  19. Brain evolution by brain pathway duplication

    PubMed Central

    Chakraborty, Mukta; Jarvis, Erich D.

    2015-01-01

    Understanding the mechanisms of evolution of brain pathways for complex behaviours is still in its infancy. Making further advances requires a deeper understanding of brain homologies, novelties and analogies. It also requires an understanding of how adaptive genetic modifications lead to restructuring of the brain. Recent advances in genomic and molecular biology techniques applied to brain research have provided exciting insights into how complex behaviours are shaped by selection of novel brain pathways and functions of the nervous system. Here, we review and further develop some insights to a new hypothesis on one mechanism that may contribute to nervous system evolution, in particular by brain pathway duplication. Like gene duplication, we propose that whole brain pathways can duplicate and the duplicated pathway diverge to take on new functions. We suggest that one mechanism of brain pathway duplication could be through gene duplication, although other mechanisms are possible. We focus on brain pathways for vocal learning and spoken language in song-learning birds and humans as example systems. This view presents a new framework for future research in our understanding of brain evolution and novel behavioural traits. PMID:26554045

  20. Brain evolution by brain pathway duplication.

    PubMed

    Chakraborty, Mukta; Jarvis, Erich D

    2015-12-19

    Understanding the mechanisms of evolution of brain pathways for complex behaviours is still in its infancy. Making further advances requires a deeper understanding of brain homologies, novelties and analogies. It also requires an understanding of how adaptive genetic modifications lead to restructuring of the brain. Recent advances in genomic and molecular biology techniques applied to brain research have provided exciting insights into how complex behaviours are shaped by selection of novel brain pathways and functions of the nervous system. Here, we review and further develop some insights to a new hypothesis on one mechanism that may contribute to nervous system evolution, in particular by brain pathway duplication. Like gene duplication, we propose that whole brain pathways can duplicate and the duplicated pathway diverge to take on new functions. We suggest that one mechanism of brain pathway duplication could be through gene duplication, although other mechanisms are possible. We focus on brain pathways for vocal learning and spoken language in song-learning birds and humans as example systems. This view presents a new framework for future research in our understanding of brain evolution and novel behavioural traits. PMID:26554045

  1. Drosophila melanogaster metallothionein genes: Selection for duplications

    SciTech Connect

    Lange, B.W.

    1989-01-01

    The metallothionein genes of Drosophila melanogaster, Mtn and Mto, may play an important role in heavy-metal detoxification. In order to investigate the possibility of increased selection for duplications of these genes in natural populations exposed to high levels of heavy metals, I compared the frequencies of such duplications among flies collected from metal-contaminated and non-contaminated orchards in Pennsylvania, Tennessee, and Georgia. Contaminated of collection sites and of local flies was confirmed by atomic absorption spectrosphotometry. Six-nucleotide-recognizing restriction enzyme analysis was used to screen 1666 wild third chromosomes for Mtn duplications. A subset (327) of these lines was screened for Mto duplications: none were found. Cadmium tolerance test performed on F{sub 2} progeny of wild females failed to detect a difference in tolerance levels between flies from contaminated orchards and flies from control orchards. Estimates of sequence diversity among a subsample (92) of the chromosomes used in the duplication survey, including all 27 Mtn duplication chromosomes, were obtained using four-nucleotide-recognizing restriction enzyme analysis.

  2. Identification of single nucleotide polymorphisms from the transcriptome of an organism with a whole genome duplication

    PubMed Central

    2013-01-01

    Background The common ancestor of salmonid fishes, including rainbow trout (Oncorhynchus mykiss), experienced a whole genome duplication between 20 and 100 million years ago, and many of the duplicated genes have been retained in the trout genome. This retention complicates efforts to detect allelic variation in salmonid fishes. Specifically, single nucleotide polymorphism (SNP) detection is problematic because nucleotide variation can be found between the duplicate copies (paralogs) of a gene as well as between alleles. Results We present a method of differentiating between allelic and paralogous (gene copy) sequence variants, allowing identification of SNPs in organisms with multiple copies of a gene or set of genes. The basic strategy is to: 1) identify windows of unique cDNA sequences with homology to each other, 2) compare these unique cDNAs if they are not shared between individuals (i.e. the cDNA is homozygous in one individual and homozygous for another cDNA in the other individual), and 3) give a “SNP score” value between zero and one to each candidate sequence variant based on six criteria. Using this strategy we were able to detect about seven thousand potential SNPs from the transcriptomes of several clonal lines of rainbow trout. When directly compared to a pre-validated set of SNPs in polyploid wheat, we were also able to estimate the false-positive rate of this strategy as 0 to 28% depending on parameters used. Conclusions This strategy has an advantage over traditional techniques of SNP identification because another dimension of sequencing information is utilized. This method is especially well suited for identifying SNPs in polyploids, both outbred and inbred, but would tend to be conservative for diploid organisms. PMID:24237905

  3. Distal Xq duplication and functional Xq disomy

    PubMed Central

    Sanlaville, Damien; Schluth-Bolard, Caroline; Turleau, Catherine

    2009-01-01

    Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient and on the gene content of the duplicated segment. Prevalence of Xq duplications remains unknown. About 40 cases of Xq28 functional disomy due to cytogenetically visible rearrangements, and about 50 cases of cryptic duplications encompassing the MECP2 gene have been reported. The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial features (premature closure of the fontanels or ridged metopic suture, broad face with full cheeks, epicanthal folds, large ears, small and open mouth, ear anomalies, pointed nose, abnormal palate and facial hypotonia), major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and proneness to infections. Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males, structural X disomy always results in functional disomy. In females, failure of X chromosome dosage compensation could result from a variety of mechanisms, including an unfavourable pattern of inactivation, a breakpoint separating an X segment from the X-inactivation centre in cis, or a small ring chromosome. The MECP2 gene in Xq28 is the most important dosage-sensitive gene responsible for the abnormal phenotype in duplications of distal Xq. Diagnosis is based on clinical features and is confirmed by CGH array techniques. Differential diagnoses include Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X). The recurrence risk is significant if a structural rearrangement is present in one of the parent, the most frequent situation being that of an intrachromosomal duplication inherited from the mother. Prenatal diagnosis is performed by cytogenetic testing

  4. Pervasive and Persistent Redundancy among Duplicated Genes in Yeast

    PubMed Central

    Dean, E. Jedediah; Davis, Jerel C.; Davis, Ronald W.; Petrov, Dmitri A.

    2008-01-01

    The loss of functional redundancy is the key process in the evolution of duplicated genes. Here we systematically assess the extent of functional redundancy among a large set of duplicated genes in Saccharomyces cerevisiae. We quantify growth rate in rich medium for a large number of S. cerevisiae strains that carry single and double deletions of duplicated and singleton genes. We demonstrate that duplicated genes can maintain substantial redundancy for extensive periods of time following duplication (∼100 million years). We find high levels of redundancy among genes duplicated both via the whole genome duplication and via smaller scale duplications. Further, we see no evidence that two duplicated genes together contribute to fitness in rich medium substantially beyond that of their ancestral progenitor gene. We argue that duplicate genes do not often evolve to behave like singleton genes even after very long periods of time. PMID:18604285

  5. Do Children Think that Duplicating the Body also Duplicates the Mind?

    ERIC Educational Resources Information Center

    Hood, Bruce; Gjersoe, Nathalia L.; Bloom, Paul

    2012-01-01

    Philosophers use hypothetical duplication scenarios to explore intuitions about personal identity. Here we examined 5- to 6-year-olds' intuitions about the physical properties and memories of a live hamster that is apparently duplicated by a machine. In Study 1, children thought that more of the original's physical properties than episodic…

  6. [Intestinal volvulus due to yeyunal duplication].

    PubMed

    Rodríguez Iglesias, P; Carazo Palacios, M E; Lluna González, J; Ibáñez Pradas, V; Rodríguez Caraballo, L

    2014-10-01

    Duplications of the alimentary tract are congenital malformations. The ileum is the most commonly affected organ. A lot of duplications are incidentally diagnosed but most of patients present a combination of pain or complications such as obstructive symptoms, intestinal intussusception, perforation or volvulus. We report the case of a 6-years-old girl, with intermittent abdominal pain and vomits for two months long. Laboratory work was completely normal and in the radiology analysis (abdominal sonography and magnetic resonance) a cystic image with intestinal volvulus was observed. The patient underwent laparotomy, Ladd's procedure was done and the cyst was resected. In conclusion, if a patient is admitted with abdominal pain and obstructive symptoms, it is important to consider duplication of the alimentary tract as a possible diagnosis. PMID:26065113

  7. Genome Duplication: The Heartbeat of Developing Organisms

    PubMed Central

    DePamphilis, Melvin L.

    2016-01-01

    The mechanism that duplicates the nuclear genome during the trillions of cell divisions required to develop from zygote to adult is the same throughout the eukarya, but the mechanisms that determine where, when and how much nuclear genome duplication occur regulate development and differ among the eukarya. They allow organisms to change the rate of cell proliferation during development, to activate zygotic gene expression independently of DNA replication, and to restrict nuclear DNA replication to once per cell division. They allow specialized cells to exit their mitotic cell cycle and differentiate into polyploid cells, and in some cases, to amplify the number of copies of specific genes. It is genome duplication that drives evolution, by virtue of the errors that inevitably occur when the same process is repeated trillions of times. It is, unfortunately, the same errors that produce age-related genetic disorders such as cancer. PMID:26970621

  8. Female covered urethral duplication with urogenital sinus.

    PubMed

    Philippe-Chomette, Pascale; Zeidan, Smart; Belarbi, Nadia; Van Der Meer, Gretha; Oury, Jean-Francois; El-Ghoneimi, Alaa

    2012-02-01

    We report a covered urethral duplication in a girl presenting prenatally with an enlarged fluid-filled vulvar cyst, genital duplication, and urogenital sinus revealed by fetal magnetic resonance imaging (MRI) and serial ultrasounds. Physical examination revealed an enlarged vulvar mass covering the clitoris, a single orifice, and normally sited anus. Congenital adrenal hyperplasia was ruled out at birth. MRI in addition showed an accessory duct between the sinus and the urine-filled vulvar pouch with a bifid clitoris. A total urogenital sinus mobilization with resection of the accessory urethra and vulvoplasty was performed with uneventful follow-up. PMID:21601245

  9. Organising European technical documentation to avoid duplication.

    PubMed

    Donawa, Maria

    2006-04-01

    The development of comprehensive accurate and well-organised technical documentation that demonstrates compliance with regulatory requirements is a resource-intensive, but critically important activity for medical device manufacturers. This article discusses guidance documents and method of organising technical documentation that may help avoid costly and time-consuming duplication. PMID:16736662

  10. Children Prefer Certain Individuals over Perfect Duplicates

    ERIC Educational Resources Information Center

    Hood, Bruce M.; Bloom, Paul.

    2008-01-01

    Adults value certain unique individuals--such as artwork, sentimental possessions, and memorabilia--more than perfect duplicates. Here we explore the origins of this bias in young children, by using a conjurer's illusion where we appear to produce identical copies of real-world objects. In Study 1, young children were less likely to accept an…

  11. Wanda: a database of duplicated fish genes

    PubMed Central

    Van de Peer, Yves; Taylor, John S.; Joseph, Jayabalan; Meyer, Axel

    2002-01-01

    Comparative genomics has shown that ray-finned fish (Actinopterygii) contain more copies of many genes than other vertebrates. A large number of these additional genes appear to have been produced during a genome duplication event that occurred early during the evolution of Actinopterygii (i.e. before the teleost radiation). In addition to this ancient genome duplication event, many lineages within Actinopterygii have experienced more recent genome duplications. Here we introduce a curated database named Wanda that lists groups of orthologous genes with one copy from man, mouse and chicken, one or two from tetraploid Xenopus and two or more ancient copies (i.e. paralogs) from ray-finned fish. The database also contains the sequence alignments and phylogenetic trees that were necessary for determining the correct orthologous and paralogous relationships among genes. Where available, map positions and functional data are also reported. The Wanda database should be of particular use to evolutionary and developmental biologists who are interested in the evolutionary and functional divergence of genes after duplication. Wanda is available at http://www.evolutionsbiologie.uni-konstanz.de/Wanda/. PMID:11752268

  12. Duplication count distributions in DNA sequences

    NASA Astrophysics Data System (ADS)

    Sindi, Suzanne S.; Hunt, Brian R.; Yorke, James A.

    2008-12-01

    We study quantitative features of complex repetitive DNA in several genomes by studying sequences that are sufficiently long that they are unlikely to have repeated by chance. For each genome we study, we determine the number of identical copies, the “duplication count,” of each sequence of length 40, that is of each “40-mer.” We say a 40-mer is “repeated” if its duplication count is at least 2. We focus mainly on “complex” 40-mers, those without short internal repetitions. We find that we can classify most of the complex repeated 40-mers into two categories: one category has its copies clustered closely together on one chromosome, the other has its copies distributed widely across multiple chromosomes. For each genome and each of the categories above, we compute N(c) , the number of 40-mers that have duplication count c , for each integer c . In each case, we observe a power-law-like decay in N(c) as c increases from 3 to 50 or higher. In particular, we find that N(c) decays much more slowly than would be predicted by evolutionary models where each 40-mer is equally likely to be duplicated. We also analyze an evolutionary model that does reflect the slow decay of N(c) .

  13. 15 CFR 750.9 - Duplicate licenses.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... accordance with the recordkeeping provisions of part 762 of the EAR. (b) Hong Kong Trade Department. BIS will automatically issue a duplicate license whenever the license lists a party in Hong Kong as the intermediate consignee, or when Hong Kong is identified as the country from which the reexport will take place....

  14. 15 CFR 750.9 - Duplicate licenses.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... accordance with the recordkeeping provisions of part 762 of the EAR. (b) Hong Kong Trade Department. BIS will automatically issue a duplicate license whenever the license lists a party in Hong Kong as the intermediate consignee, or when Hong Kong is identified as the country from which the reexport will take place....

  15. 15 CFR 750.9 - Duplicate licenses.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... accordance with the recordkeeping provisions of part 762 of the EAR. (b) Hong Kong Trade Department. BIS will automatically issue a duplicate license whenever the license lists a party in Hong Kong as the intermediate consignee, or when Hong Kong is identified as the country from which the reexport will take place....

  16. 15 CFR 750.9 - Duplicate licenses.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... accordance with the recordkeeping provisions of part 762 of the EAR. (b) Hong Kong Trade Department. BIS will automatically issue a duplicate license whenever the license lists a party in Hong Kong as the intermediate consignee, or when Hong Kong is identified as the country from which the reexport will take place....

  17. 15 CFR 750.9 - Duplicate licenses.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 15 Commerce and Foreign Trade 2 2012-01-01 2012-01-01 false Duplicate licenses. 750.9 Section 750.9 Commerce and Foreign Trade Regulations Relating to Commerce and Foreign Trade (Continued) BUREAU OF INDUSTRY AND SECURITY, DEPARTMENT OF COMMERCE EXPORT ADMINISTRATION REGULATIONS APPLICATION PROCESSING, ISSUANCE, AND DENIAL § 750.9...

  18. Phosphorylation network rewiring by gene duplication

    PubMed Central

    Freschi, Luca; Courcelles, Mathieu; Thibault, Pierre; Michnick, Stephen W; Landry, Christian R

    2011-01-01

    Elucidating how complex regulatory networks have assembled during evolution requires a detailed understanding of the evolutionary dynamics that follow gene duplication events, including changes in post-translational modifications. We compared the phosphorylation profiles of paralogous proteins in the budding yeast Saccharomyces cerevisiae to that of a species that diverged from the budding yeast before the duplication of those genes. We found that 100 million years of post-duplication divergence are sufficient for the majority of phosphorylation sites to be lost or gained in one paralog or the other, with a strong bias toward losses. However, some losses may be partly compensated for by the evolution of other phosphosites, as paralogous proteins tend to preserve similar numbers of phosphosites over time. We also found that up to 50% of kinase–substrate relationships may have been rewired during this period. Our results suggest that after gene duplication, proteins tend to subfunctionalize at the level of post-translational regulation and that even when phosphosites are preserved, there is a turnover of the kinases that phosphorylate them. PMID:21734643

  19. Characterization of duplicated Dunaliella viridis SPT1 genes provides insights into early gene divergence after duplication.

    PubMed

    Guan, Zhenwei; Meng, Xiangzong; Sun, Zhenhua; Xu, Zhengkai; Song, Rentao

    2008-10-15

    The sodium-dependent phosphate transporter gene from unicellular green algae Dunaliella viridis, DvSPT1, shares similarity with members of Pi transporter family. Sequencing analysis of D. viridis BAC clone containing the DvSPT1 gene revealed two inverted duplicated copies of this gene (DvSPT1 and DvSPT1-2 respectively). The duplication covered most of both genes except for their 3' downstream region. The duplicated genomic sequences exhibited 97.9% identity with a synonymous divergence of Ks=0.0126 in the coding region. This data indicated very recent gene duplication in D. viridis genome, providing an excellent opportunity to investigate sequence and expression divergence of duplicated genes at an early stage. Scattered point mutations and length polymorphism of simple sequence repeats (SSRs) were predominant among the sequence divergence soon after gene duplication. Due to sequence divergence in the 5' regulatory regions and a swap of the entire 3' downstream regions (3'-UTR), DvSPT1 and DvSPT1-2 showed expression divergence in response to extra-cellular NaCl concentration changes. According to their expression patterns, the two diverged gene copies would provide better adaptation to a broader range of extra-cellular NaCl concentration. Furthermore, Southern blot analysis indicated that there might be a large phosphate transporter gene family in D. viridis. PMID:18662752

  20. Chromosomal duplications in bacteria, fruit flies, and humans

    SciTech Connect

    Lupski, J.R.; Weinstock, G.M.; Roth, J.R.

    1996-01-01

    Tandem duplication of chromosomal segments has been recognized as a frequent mutational mechanism in several genetic model systems. In bacteria, fruit flies, and humans, duplications form by similar molecular mechanisms and appear to be important in genome evolution. 80 refs.

  1. Whole Genome Duplications Shaped the Receptor Tyrosine Kinase Repertoire of Jawed Vertebrates

    PubMed Central

    Brunet, Frédéric G.; Volff, Jean-Nicolas; Schartl, Manfred

    2016-01-01

    The receptor tyrosine kinase (RTK) gene family, involved primarily in cell growth and differentiation, comprises proteins with a common enzymatic tyrosine kinase intracellular domain adjacent to a transmembrane region. The amino-terminal portion of RTKs is extracellular and made of different domains, the combination of which characterizes each of the 20 RTK subfamilies among mammals. We analyzed a total of 7,376 RTK sequences among 143 vertebrate species to provide here the first comprehensive census of the jawed vertebrate repertoire. We ascertained the 58 genes previously described in the human and mouse genomes and established their phylogenetic relationships. We also identified five additional RTKs amounting to a total of 63 genes in jawed vertebrates. We found that the vertebrate RTK gene family has been shaped by the two successive rounds of whole genome duplications (WGD) called 1R and 2R (1R/2R) that occurred at the base of the vertebrates. In addition, the Vegfr and Ephrin receptor subfamilies were expanded by single gene duplications. In teleost fish, 23 additional RTK genes have been retained after another expansion through the fish-specific third round (3R) of WGD. Several lineage-specific gene losses were observed. For instance, birds have lost three RTKs, and different genes are missing in several fish sublineages. The RTK gene family presents an unusual high gene retention rate from the vertebrate WGDs (58.75% after 1R/2R, 64.4% after 3R), resulting in an expansion that might be correlated with the evolution of complexity of vertebrate cellular communication and intracellular signaling. PMID:27260203

  2. Whole Genome Duplications Shaped the Receptor Tyrosine Kinase Repertoire of Jawed Vertebrates.

    PubMed

    Brunet, Frédéric G; Volff, Jean-Nicolas; Schartl, Manfred

    2016-01-01

    The receptor tyrosine kinase (RTK) gene family, involved primarily in cell growth and differentiation, comprises proteins with a common enzymatic tyrosine kinase intracellular domain adjacent to a transmembrane region. The amino-terminal portion of RTKs is extracellular and made of different domains, the combination of which characterizes each of the 20 RTK subfamilies among mammals. We analyzed a total of 7,376 RTK sequences among 143 vertebrate species to provide here the first comprehensive census of the jawed vertebrate repertoire. We ascertained the 58 genes previously described in the human and mouse genomes and established their phylogenetic relationships. We also identified five additional RTKs amounting to a total of 63 genes in jawed vertebrates. We found that the vertebrate RTK gene family has been shaped by the two successive rounds of whole genome duplications (WGD) called 1R and 2R (1R/2R) that occurred at the base of the vertebrates. In addition, the Vegfr and Ephrin receptor subfamilies were expanded by single gene duplications. In teleost fish, 23 additional RTK genes have been retained after another expansion through the fish-specific third round (3R) of WGD. Several lineage-specific gene losses were observed. For instance, birds have lost three RTKs, and different genes are missing in several fish sublineages. The RTK gene family presents an unusual high gene retention rate from the vertebrate WGDs (58.75% after 1R/2R, 64.4% after 3R), resulting in an expansion that might be correlated with the evolution of complexity of vertebrate cellular communication and intracellular signaling. PMID:27260203

  3. A case of dupable duple duplicity and duplexity

    PubMed Central

    Afzal, Uzma; Al-Shammari, Rasha Mater; Siraj, Qaisar H; Hebbar, Santosh

    2013-01-01

    Duplication anomalies are quite common with ureteral duplication anomalies being the most frequent. Despite the relatively frequent incidence of a horseshoe kidney and duplication anomalies in any individual patient, the combination of horseshoe kidney and bilateral ureteric duplication is a very rare entity and very few cases have been reported to date. We present a case of a patient with a novel combination of a horseshoe kidney and multiple rare congenital renal anomalies and their sequelae.

  4. Oesophageal duplication cyst mimicking hydatid cyst in endemic areas

    PubMed Central

    Akin, Melih; Yildiz, Abdullah; Karadag, Cetin Ali; Sever, Nihat; Dokucu, Ali Ihsan

    2015-01-01

    The cystic appearance of both oesophageal duplications and pulmonary hydatid cysts can cause a misdiagnosis very easily due to rarity of cystic oesophageal duplications beside the higher incidence of hydatid cyst, especially in endemic areas. Here we report a 7-year-old girl with an oesophageal duplication cyst on the left side misdiagnosed as a hydatid cyst. The aim of the study is to report rare oesophageal duplications in the differential diagnosis of intrathoracic cysts. PMID:26702290

  5. Genetics Home Reference: 22q11.2 duplication

    MedlinePlus

    ... Genetics Home Health Conditions 22q11.2 duplication 22q11.2 duplication Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description 22q11.2 duplication is a condition caused by an extra ...

  6. Genetics Home Reference: 16p11.2 duplication

    MedlinePlus

    ... Genetics Home Health Conditions 16p11.2 duplication 16p11.2 duplication Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description 16p11.2 duplication is a chromosomal change in which a ...

  7. 38 CFR 10.53 - Payment on duplicate certificate.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Payment on duplicate certificate. 10.53 Section 10.53 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS ADJUSTED COMPENSATION Payments § 10.53 Payment on duplicate certificate. Issuance of duplicate...

  8. Unilateral Pulmonary Agenesis and Gastric Duplication Cyst: A Rare Association

    PubMed Central

    Skokic, Fahrija; Hotic, Nesad; Husaric, Edin; Radoja, Gordana; Muratovic, Selma; Dedic, Nermina

    2013-01-01

    Lung agenesis and gastric duplication cysts are both rare congenital anomalies. Gastric duplication cysts can present with nausea, vomiting, hematemesis, or vague abdominal pain. Unilateral pulmonary agenesis can present with respiratory distress which usually occurs due to retention of bronchial secretions and inflammations. We report the unique case of right pulmonary agenesis associated with gastric duplication cyst. PMID:23844300

  9. 47 CFR 76.1508 - Network non-duplication.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 47 Telecommunication 4 2011-10-01 2011-10-01 false Network non-duplication. 76.1508 Section 76... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Open Video Systems § 76.1508 Network non-duplication. (a... regarding the exercise of network non-duplication rights immediately available to all appropriate...

  10. 47 CFR 76.122 - Satellite network non-duplication.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 47 Telecommunication 4 2011-10-01 2011-10-01 false Satellite network non-duplication. 76.122... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.122 Satellite network non-duplication. (a) Upon receiving notification pursuant...

  11. 47 CFR 76.122 - Satellite network non-duplication.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Satellite network non-duplication. 76.122... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.122 Satellite network non-duplication. (a) Upon receiving notification pursuant...

  12. 47 CFR 76.1508 - Network non-duplication.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Network non-duplication. 76.1508 Section 76... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Open Video Systems § 76.1508 Network non-duplication. (a... regarding the exercise of network non-duplication rights immediately available to all appropriate...

  13. Oesophageal duplication cyst presenting as haemoptysis.

    PubMed

    Afzal, Noureen; Adil, Syeda Ezz-e-Rukhshan; Mushtaq, Ammara; Rahman, Arshalooz; Amanullah, Muneer

    2013-05-01

    Duplications of the alimentary tract include a variety of cysts, diverticula, and tubular malformations, all believed to have embryological origin. The cysts are most commonly found in children, and the diagnosis is made in infancy in the majority of patients. We report a case of a two-and-a-half year old child, presenting with the history of repeated episodes of haematemesis. Upper GI endoscopy was unremarkable and the chest x-ray showed no pathology. Computed tomography (CT) angiogram revealed soft tissue density lesion in the right chest at the level of T6. Right thoracotomy suggested a cystic mass close to the oesophagus which was shown on histopathology to be lined with gastric mucosa consistent with oesophageal duplication cyst. To the best of our knowledge, this is the first case of its kind reported from Pakistan. PMID:23757996

  14. Ideal photon number amplifier and duplicator

    NASA Technical Reports Server (NTRS)

    Dariano, G. M.

    1992-01-01

    The photon number-amplification and number-duplication mechanism are analyzed in the ideal case. The search for unitary evolutions leads to consider also a number-deamplification mechanism, the symmetry between amplification and deamplification being broken by the integer-value nature of the number operator. Both transformations, amplification and duplication, need an auxiliary field which, in the case of amplification, turns out to be amplified in the inverse way. Input-output energy conservation is accounted for using a classical pump or through frequency-conversion of the fields. Ignoring one of the fields is equivalent to considering the amplifier as an open system involving entropy production. The Hamiltonians of the ideal devices are given and compared with those of realistic systems.

  15. Duplication of coding segments in genetic programming

    SciTech Connect

    Haynes, T.

    1996-12-31

    Research into the utility of non-coding segments, or introns, in genetic-based encodings has shown that they expedite the evolution of solutions in domains by protecting building blocks against destructive crossover. We consider a genetic programming system where non-coding segments can be removed, and the resultant chromosomes returned into the population. This parsimonious repair leads to premature convergence, since as we remove the naturally occurring non-coding segments, we strip away their protective backup feature. We then duplicate the coding segments in the repaired chromosomes, and place the modified chromosomes into the population. The duplication method significantly improves the learning rate in the domain we have considered. We also show that this method can be applied to other domains.

  16. Gastric duplication cyst: a rare entity.

    PubMed

    Doepker, Matthew P; Ahmad, Syed A

    2016-01-01

    Gastric duplication cysts are an uncommon finding, especially in the adult population. Presenting symptoms can be non-specific, but can include abdominal pain, nausea and emesis. In this report, we present a 28-year-old female diagnosed with a communicating gastric cyst with both gastric and duodenal mucosa, along with pancreatic tissue and no evidence of dysplasia or malignancy. The clinical picture, diagnosis and treatment are described and compared to findings in the literature. PMID:27150283

  17. Gastric duplication cyst: a rare entity

    PubMed Central

    Doepker, Matthew P.; Ahmad, Syed A.

    2016-01-01

    Gastric duplication cysts are an uncommon finding, especially in the adult population. Presenting symptoms can be non-specific, but can include abdominal pain, nausea and emesis. In this report, we present a 28-year-old female diagnosed with a communicating gastric cyst with both gastric and duodenal mucosa, along with pancreatic tissue and no evidence of dysplasia or malignancy. The clinical picture, diagnosis and treatment are described and compared to findings in the literature. PMID:27150283

  18. Exploring duplicated regions in natural images.

    PubMed

    Bashar, M; Noda, K; Ohnishi, N; Mori, K

    2010-01-01

    Duplication of image regions is a common method for manipulating original images, using typical software like Adobe Photoshop, 3DS MAX, etc. In this study, we propose a duplication detection approach that can adopt two robust features based on discrete wavelet transform (DWT) and kernel principal component analysis (KPCA). Both schemes provide excellent representations of the image data for robust block matching. Multiresolution wavelet coefficients and KPCA-based projected vectors corresponding to image-blocks are arranged into a matrix for lexicographic sorting. Sorted blocks are used for making a list of similar point-pairs and for computing their offset frequencies. Duplicated regions are then segmented by an automatic technique that refines the list of corresponding point-pairs and eliminates the minimum offset-frequency threshold parameter in the usual detection method. A new technique that extends the basic algorithm for detecting Flip and Rotation types of forgeries is also proposed. This method uses global geometric transformation and the labeling technique to indentify the mentioned forgeries. Experiments with a good number of natural images show very promising results, when compared with the conventional PCA-based approach. A quantitative analysis indicate that the wavelet-based feature outperforms PCA- or KPCA-based features in terms of average precision and recall in the noiseless, or uncompressed domain, while KPCA-based feature obtains excellent performance in the additive noise and lossy JPEG compression environments. PMID:20350843

  19. tRNA creation by hairpin duplication.

    PubMed

    Widmann, Jeremy; Di Giulio, Massimo; Yarus, Michael; Knight, Rob

    2005-10-01

    Many studies have suggested that the modern cloverleaf structure of tRNA may have arisen through duplication of a primordial hairpin, but the timing of this duplication event has been unclear. Here we measure the level of sequence identity between the two halves of each of a large sample of tRNAs and compare this level to that of chimeric tRNAs constructed either within or between groups defined by phylogeny and/or specificity. We find that actual tRNAs have significantly more matches between the two halves than do random sequences that can form the tRNA structure, but there is no difference in the average level of matching between the two halves of an individual tRNA and the average level of matching between the two halves of the chimeric tRNAs in any of the sets we constructed. These results support the hypothesis that the modern tRNA cloverleaf arose from a single hairpin duplication prior to the divergence of modern tRNA specificities and the three domains of life. PMID:16155749

  20. Gastric Duplication Cyst Presenting as Acute Abdomen: A Case Report

    PubMed Central

    Sheikh, Afzal

    2010-01-01

    Gastric duplication cysts are rare variety of gastrointestinal duplications. Sometimes they may present with complications like hemorrhage, infection, perforation, volvulus, intussusception and rarely neoplastic changes in the gastric duplication cyst. We present one and half year old male child who developed sudden abdominal distension with pain and fever for two days. Ultrasound revealed a cystic mass in the hypochondrium and epigastric regions. On exploration an infected and perforated gastric duplication cyst was found. Surgical excision of most part of cyst wall with mucosal stripping of the rest was performed. Histopathology confirmed the diagnosis of gastric duplication cyst. Early surgical intervention can result in good outcome. PMID:22953249

  1. Surgical management of complete penile duplication accompanied by multiple anomalies

    PubMed Central

    Karaca, Irfan; Turk, Erdal; Ucan, A. Basak; Yayla, Derya; Itirli, Gulcin; Ercal, Derya

    2014-01-01

    Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypo-gastric omphalocele and extrophic rectal duplication. PMID:25408817

  2. Growth of Novel Epistatic Interactions by Gene Duplication

    PubMed Central

    Jiang, Huifeng; Xu, Lin; Gu, Zhenglong

    2011-01-01

    Epistasis has long been recognized as fundamentally important in understanding the structure, function, and evolutionary dynamics of biological systems. Gene duplication is a major mechanism of evolution for genetic novelties. Here, we demonstrate that genes evolved significantly more epistatic interactions after duplication. The connectivity of duplicate gene pairs in epistatic networks is positively correlated with the extent of their sequence divergence. Furthermore, duplicate gene pairs tend to epistatically interact with genes that occupy more functional spaces than do single-copy genes. These results show that gene duplication plays an important role in the evolution of epistasis. PMID:21402864

  3. Molecular trajectories leading to the alternative fates of duplicate genes.

    PubMed

    Marotta, Michael; Piontkivska, Helen; Tanaka, Hisashi

    2012-01-01

    Gene duplication generates extra gene copies in which mutations can accumulate without risking the function of pre-existing genes. Such mutations modify duplicates and contribute to evolutionary novelties. However, the vast majority of duplicates appear to be short-lived and experience duplicate silencing within a few million years. Little is known about the molecular mechanisms leading to these alternative fates. Here we delineate differing molecular trajectories of a relatively recent duplication event between humans and chimpanzees by investigating molecular properties of a single duplicate: DNA sequences, gene expression and promoter activities. The inverted duplication of the Glutathione S-transferase Theta 2 (GSTT2) gene had occurred at least 7 million years ago in the common ancestor of African great apes and is preserved in chimpanzees (Pan troglodytes), whereas a deletion polymorphism is prevalent in humans. The alternative fates are associated with expression divergence between these species, and reduced expression in humans is regulated by silencing mutations that have been propagated between duplicates by gene conversion. In contrast, selective constraint preserved duplicate divergence in chimpanzees. The difference in evolutionary processes left a unique DNA footprint in which dying duplicates are significantly more similar to each other (99.4%) than preserved ones. Such molecular trajectories could provide insights for the mechanisms underlying duplicate life and death in extant genomes. PMID:22720000

  4. Duplication of the pituitary gland - plus syndrome

    PubMed Central

    Sen, Debraj; Arora, Vijinder

    2016-01-01

    Duplication of the pituitary gland (DPG) is a very rare developmental anomaly that is often associated with other anomalies – the DPG-plus syndrome and occurs due to splitting of the rostral notochord and prechordal plate during blastogenesis. DPG with the constellation of associated anomalies as in our patient has not been reported previously. This article illustrates the importance of imaging the brain in all patients with obvious midline facial anomalies and the complementary role of MRI and CT in such cases. PMID:27081236

  5. DUPCAR: Reconstructing Contiguous Ancestral Regions with Duplications

    PubMed Central

    Ratan, Aakrosh; Raney, Brian J.; Suh, Bernard B.; Zhang, Louxin; Miller, Webb; Haussler, David

    2008-01-01

    Abstract Accurately reconstructing the large-scale gene order in an ancestral genome is a critical step to better understand genome evolution. In this paper, we propose a heuristic algorithm, called DUPCAR, for reconstructing ancestral genomic orders with duplications. The method starts from the order of genes in modern genomes and predicts predecessor and successor relationships in the ancestor. Then a greedy algorithm is used to reconstruct the ancestral orders by connecting genes into contiguous regions based on predicted adjacencies. Computer simulation was used to validate the algorithm. We also applied the method to reconstruct the ancestral chromosome X of placental mammals and the ancestral genomes of the ciliate Paramecium tetraurelia. PMID:18774902

  6. Analysis of recent segmental duplications in the bovine genome

    PubMed Central

    2009-01-01

    Background Duplicated sequences are an important source of gene innovation and structural variation within mammalian genomes. We performed the first systematic and genome-wide analysis of segmental duplications in the modern domesticated cattle (Bos taurus). Using two distinct computational analyses, we estimated that 3.1% (94.4 Mb) of the bovine genome consists of recently duplicated sequences (≥ 1 kb in length, ≥ 90% sequence identity). Similar to other mammalian draft assemblies, almost half (47% of 94.4 Mb) of these sequences have not been assigned to cattle chromosomes. Results In this study, we provide the first experimental validation large duplications and briefly compared their distribution on two independent bovine genome assemblies using fluorescent in situ hybridization (FISH). Our analyses suggest that the (75-90%) of segmental duplications are organized into local tandem duplication clusters. Along with rodents and carnivores, these results now confidently establish tandem duplications as the most likely mammalian archetypical organization, in contrast to humans and great ape species which show a preponderance of interspersed duplications. A cross-species survey of duplicated genes and gene families indicated that duplication, positive selection and gene conversion have shaped primates, rodents, carnivores and ruminants to different degrees for their speciation and adaptation. We identified that bovine segmental duplications corresponding to genes are significantly enriched for specific biological functions such as immunity, digestion, lactation and reproduction. Conclusion Our results suggest that in most mammalian lineages segmental duplications are organized in a tandem configuration. Segmental duplications remain problematic for genome and assembly and we highlight genic regions that require higher quality sequence characterization. This study provides insights into mammalian genome evolution and generates a valuable resource for cattle

  7. Preservation of duplicate genes by complementary, degenerative mutations.

    PubMed Central

    Force, A; Lynch, M; Pickett, F B; Amores, A; Yan, Y L; Postlethwait, J

    1999-01-01

    The origin of organismal complexity is generally thought to be tightly coupled to the evolution of new gene functions arising subsequent to gene duplication. Under the classical model for the evolution of duplicate genes, one member of the duplicated pair usually degenerates within a few million years by accumulating deleterious mutations, while the other duplicate retains the original function. This model further predicts that on rare occasions, one duplicate may acquire a new adaptive function, resulting in the preservation of both members of the pair, one with the new function and the other retaining the old. However, empirical data suggest that a much greater proportion of gene duplicates is preserved than predicted by the classical model. Here we present a new conceptual framework for understanding the evolution of duplicate genes that may help explain this conundrum. Focusing on the regulatory complexity of eukaryotic genes, we show how complementary degenerative mutations in different regulatory elements of duplicated genes can facilitate the preservation of both duplicates, thereby increasing long-term opportunities for the evolution of new gene functions. The duplication-degeneration-complementation (DDC) model predicts that (1) degenerative mutations in regulatory elements can increase rather than reduce the probability of duplicate gene preservation and (2) the usual mechanism of duplicate gene preservation is the partitioning of ancestral functions rather than the evolution of new functions. We present several examples (including analysis of a new engrailed gene in zebrafish) that appear to be consistent with the DDC model, and we suggest several analytical and experimental approaches for determining whether the complementary loss of gene subfunctions or the acquisition of novel functions are likely to be the primary mechanisms for the preservation of gene duplicates. For a newly duplicated paralog, survival depends on the outcome of the race between

  8. FT Duplication Coordinates Reproductive and Vegetative Growth

    SciTech Connect

    Hsu, Chuan-Yu; Adams, Joshua P.; Kim, Hyejin; No, Kyoungok; Ma, Caiping; Strauss, Steven; Drnevich, Jenny; Wickett, Norman; Vandervelde, Lindsay; Ellis, Jeffrey D.; Rice, Brandon; Gunter, Lee E; Tuskan, Gerald A; Brunner, Amy M.; Page, Grier P.; Carlson, John E.; DePamphilis, Claude; Luthe, Dawn S.; Yuceer, Cetin

    2011-01-01

    Annual plants grow vegetatively at early developmental stages and then transition to the reproductive stage, followed by senescence in the same year. In contrast, after successive years of vegetative growth at early ages, woody perennial shoot meristems begin repeated transitions between vegetative and reproductive growth at sexual maturity. However, it is unknown how these repeated transitions occur without a developmental conflict between vegetative and reproductive growth. We report that functionally diverged paralogs FLOWERING LOCUS T1 (FT1) and FLOWERING LOCUS T2 (FT2), products of whole-genome duplication and homologs of Arabidopsis thaliana gene FLOWERING LOCUS T (FT), coordinate the repeated cycles of vegetative and reproductive growth in woody perennial poplar (Populus spp.). Our manipulative physiological and genetic experiments coupled with field studies, expression profiling, and network analysis reveal that reproductive onset is determined by FT1 in response to winter temperatures, whereas vegetative growth and inhibition of bud set are promoted by FT2 in response to warm temperatures and long days in the growing season. The basis for functional differentiation between FT1 and FT2 appears to be expression pattern shifts, changes in proteins, and divergence in gene regulatory networks. Thus, temporal separation of reproductive onset and vegetative growth into different seasons via FT1 and FT2 provides seasonality and demonstrates the evolution of a complex perennial adaptive trait after genome duplication.

  9. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

    PubMed Central

    Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo Pinto; Miguel, Diego; Stubbolo, Danielle; Marques, Lourenco Charles; Gahl, William; Boespflug-Tanguy, Odile; Melberg, Atle; Hassin-Baer, Sharon; Cohen, Oren S; Pjontek, Rastislav; Grau, Armin; Klopstock, Thomas; Fogel, Brent; Meijer, Inge; Rouleau, Guy; Bouchard, Jean-Pierre L; Ganapathiraju, Madhavi; Vanderver, Adeline; Dahl, Niklas; Hobson, Grace; Brusco, Alfredo; Brussino, Alessandro; Padiath, Quasar Saleem

    2013-01-01

    ABSTRACT Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication-based mechanisms such fork stalling and template switching or microhomology-mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients’ fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele-specific LMNB1 expression levels. PMID:23649844

  10. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

    PubMed

    Fukushi, Daisuke; Yamada, Kenichiro; Nomura, Noriko; Naiki, Misako; Kimura, Reiko; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Kumiko; Miyake, Yoshishige; Wakamatsu, Nobuaki

    2014-04-01

    Xq28 duplication syndrome including MECP2 is a neurodevelopmental disorder characterized by axial hypotonia at infancy, severe intellectual disability, developmental delay, mild characteristic facial appearance, epilepsy, regression, and recurrent infections in males. We identified a Japanese family of Xq28 duplications, in which the patients presented with cerebellar ataxia, severe constipation, and small feet, in addition to the common clinical features. The 488-kb duplication spanned from L1CAM to EMD and contained 17 genes, two pseudo genes, and three microRNA-coding genes. FISH and nucleotide sequence analyses demonstrated that the duplication was tandem and in a forward orientation, and the duplication breakpoints were located in AluSc at the EMD side, with a 32-bp deletion, and LTR50 at the L1CAM side, with "tc" and "gc" microhomologies at the duplication breakpoints, respectively. The duplicated segment was completely segregated from the grandmother to the patients. These results suggest that the duplication was generated by fork-stalling and template-switching at the AluSc and LTR50 sites. This is the first report to determine the size and nucleotide sequences of the duplicated segments at Xq28 of three generations of a family and provides the genotype-phenotype correlation of the patients harboring the specific duplicated segment. PMID:24478188

  11. Identifying and removing duplicate records from systematic review searches

    PubMed Central

    Kwon, Yoojin; Lemieux, Michelle; McTavish, Jill; Wathen, Nadine

    2015-01-01

    Objective The purpose of this study was to compare effectiveness of different options for de-duplicating records retrieved from systematic review searches. Methods Using the records from a published systematic review, five de-duplication options were compared. The time taken to de-duplicate in each option and the number of false positives (were deleted but should not have been) and false negatives (should have been deleted but were not) were recorded. Results The time for each option varied. The number of positive and false duplicates returned from each option also varied greatly. Conclusion The authors recommend different de-duplication options based on the skill level of the searcher and the purpose of de-duplication efforts. PMID:26512216

  12. Gene duplication, genome duplication, and the functional diversification of vertebrate globins

    PubMed Central

    Storz, Jay F.; Opazo, Juan C.; Hoffmann, Federico G.

    2015-01-01

    The functional diversification of the vertebrate globin gene superfamily provides an especially vivid illustration of the role of gene duplication and whole-genome duplication in promoting evolutionary innovation. For example, key globin proteins that evolved specialized functions in various aspects of oxidative metabolism and oxygen signaling pathways (hemoglobin [Hb], myoglobin [Mb], and cytoglobin [Cygb]) trace their origins to two whole-genome duplication events in the stem lineage of vertebrates. The retention of the proto-Hb and Mb genes in the ancestor of jawed vertebrates permitted a physiological division of labor between the oxygen-carrier function of Hb and the oxygen-storage function of Mb. In the Hb gene lineage, a subsequent tandem gene duplication gave rise to the proto α- and β-globin genes, which permitted the formation of multimeric Hbs composed of unlike subunits (α2β2). The evolution of this heteromeric quaternary structure was central to the emergence of Hb as a specialized oxygen-transport protein because it provided a mechanism for cooperative oxygen-binding and allosteric regulatory control. Subsequent rounds of duplication and divergence have produced diverse repertoires of α- and β-like globin genes that are ontogenetically regulated such that functionally distinct Hb isoforms are expressed during different stages of prenatal development and postnatal life. In the ancestor of jawless fishes, the proto Mb and Hb genes appear to have been secondarily lost, and the Cygb homolog evolved a specialized respiratory function in blood-oxygen transport. Phylogenetic and comparative genomic analyses of the vertebrate globin gene superfamily have revealed numerous instances in which paralogous globins have convergently evolved similar expression patterns and/or similar functional specializations in different organismal lineages. PMID:22846683

  13. Cholecystitis of a duplicated gallbladder complicated by a cholecystoenteric fistula.

    PubMed

    Huang, Brady K; Chess, Mitchell A

    2009-04-01

    Gallbladder duplications are uncommon anatomic variants that are sometimes mistaken for other entities on imaging. We present a surgically confirmed case of cholecystitis in a ductular-type duplicated gallbladder complicated by the formation of an inflammatory fistula to the adjacent duodenum. Both US and magnetic resonance cholangiopancreatography were performed preoperatively, in addition to intraoperative cholangiography, which confirmed the presence of a duplicated gallbladder. PMID:19205686

  14. An extremely rare case of classic complete caudal duplication: Dipygus

    PubMed Central

    Al Alayet, Yasen Fayez; Samujh, Ram; Lyngdoh, Toijam Soni; Mansoor, Khizer; Al Kasim, Fawaz; Al-Mustafa, Abdulaziz A.

    2014-01-01

    Dipygus is a complete caudal duplication deformity in its severest form. The structures derived from the embryonic cloaca and notochords are duplicated to various extent. We report a male baby who presented to us with complete somatic and visceral duplication below the umbilical level associated with gastroschisis and imperforated anus. Staged surgical corrections were suggested and three out of the four stages were performed successfully. PMID:25197197

  15. Urethral duplication in males: our experience in ten cases.

    PubMed

    Arena, Salvatore; Arena, Carmela; Scuderi, Maria Grazia; Sanges, Giuseppe; Arena, Francesco; Di Benedetto, Vincenzo

    2007-08-01

    Urethral duplication is a rare congenital anomaly, affecting mainly boys. Clinical presentation varies because of the different anatomical patterns of this abnormality. We report our experience in ten males affected by urethral duplication. We retrospectively reviewed the records of ten males affected by urethral duplication. Mild cases of distal type I duplications as well as "Y-type" duplication associated to anorectal malformation were excluded. Evaluation included voiding cystourethrography, retrograde urethrography, intravenous urography and urethrocystoscopy. Mean age at diagnosis was 46.7 +/- 32.3 months A blind ending duplicated urethra (type I) was present in three patients, two urethras originating from a common bladder neck (type II A2) in three, an "Y-type" duplication in three and a complete bladder with incomplete urethral duplication in one. Surgical management included excision of the duplicated urethra in four patients while a displacement of the ventral urethra (in "Y-type" duplication) in perineal-scrotal or scrotal position was performed in two patients as first stage of urethral reconstruction. Good cosmetical and functional results were achieved in all six treated boys while surgical management was not required in four. Urethral duplication is often associated with genito-urinary and gastro-intestinal abnormalities. Embryology is unclear and a lot of hypotheses have been proposed. We believe that the same embryological explanation cannot be applied to all subtypes of urethral duplication. Management must be evaluated for each case. The overall prognosis is good, in spite of the presence of other severe associate congenital anomalies. PMID:17576574

  16. TBK1 gene duplication and normal-tension glaucoma

    PubMed Central

    Ritch, Robert; Darbro, Ben; Menon, Geeta; Khanna, Cheryl L.; Solivan-Timpe, Frances; Roos, Ben R.; Sarfarzi, Mansoor; Kawase, Kazuhide; Yamamoto, Tetsuya; Robin, Alan L.; Lotery, Andrew J.; Fingert, John H.

    2015-01-01

    IMPORTANCE Normal-tension glaucoma (NTG) is a common cause of vision loss. OBJECTIVE To investigate the role of TANK binding kinase1(TBK1) gene duplications in NTG to gain insights into the causes of glaucoma that occurs at low intraocular pressure (IOP). DESIGN, SETTING, AND PARTICIPANTS In this multicenter case-control study, we investigated patients who met the criteria for NTG, including glaucomatous optic neuropathy, visual field defects, and maximum recorded untreated IOP of 21 mm Hg or less, and matched controls. Participants (N = 755) were recruited from Southampton, United Kingdom (180 patients and 178 controls), Rochester, Minnesota (65 patients and 12 controls), New York, New York (96 patients and 16 controls), and Iowa City, Iowa (208 controls). MAIN OUTCOMES AND MEASURES Detection of TBK1 gene duplications and comparison of the extent of the identified DNA that is duplicated with prior TBK1 copy number variations associated with NTG. RESULTS A TBK1 gene duplication was detected in 1 of 96 patients (1.0%) from New York and none of the controls. Analysis of duplication borders with comparative genome hybridization demonstrated that this patient has a novel duplication that has not been previously reported. No gene duplications were detected in any of the other cohorts of patients or controls. CONCLUSIONS AND RELEVANCE Duplication of the TBK1 gene is a rare cause of NTG. The identification of another case of NTG attributed to TBK1 gene duplication strengthens the case that this mutation causes glaucoma. PMID:24699864

  17. Foregut Duplication Cyst: An Unusual Presentation During Childhood

    PubMed Central

    Hammoud, Ahmad; Hourani, Mohammad; Akoum, Mouniat; Rajab, Mariam

    2012-01-01

    Congenital duplications can occur anywhere in the GIT, one third of all duplications are foregut duplications (esophagus, stomach, first and second part of duodenum). Respiratory symptoms are the most common symptoms in foregut duplications, most cases present with respiratory distress which may be present from birth, or symptoms may be insidious with cough, wheeze, or recurrent respiratory infections. We are presenting a 2-year-old boy presenting with cough and fever. Radiological investigation showed left mediastinal mass that was removed by excisional biopsy and revealed an esophageal cyst. Cough with or without fever could be rare presentations for esophageal cyst. PMID:22754882

  18. Method of making an apertured casting. [using duplicate mold

    NASA Technical Reports Server (NTRS)

    Terray, A. (Inventor)

    1976-01-01

    An apertured casting is made by first forming a duplicate in the shape of the finished casting, positioning refractory metal bodies such as wires in the duplicate at points corresponding to apertures or passageways in finished products, forming a ceramic coating on the duplicate, removing the duplicate material, firing the ceramic in a vacuum or inert atmosphere, vacuum casting the metal in the ceramic form, removing the ceramic form, heating the cast object in an atmospheric furnace to oxidize the refractory metal bodies and then leaching the oxidized refractory bodies from the casting with a molten caustic agent or acid solution.

  19. Gene duplication and transfer events in plant mitochondria genome

    SciTech Connect

    Xiong Aisheng Peng Rihe; Zhuang Jing; Gao Feng; Zhu Bo; Fu Xiaoyan; Xue Yong; Jin Xiaofen; Tian Yongsheng; Zhao Wei; Yao Quanhong

    2008-11-07

    Gene or genome duplication events increase the amount of genetic material available to increase the genomic, and thereby phenotypic, complexity of organisms during evolution. Gene duplication and transfer events have been important to molecular evolution in all three domains of life, and may be the first step in the emergence of new gene functions. Gene transfer events have been proposed as another accelerator of evolution. The duplicated gene or genome, mainly nuclear, has been the subject of several recent reviews. In addition to the nuclear genome, organisms have organelle genomes, including mitochondrial genome. In this review, we briefly summarize gene duplication and transfer events in the plant mitochondrial genome.

  20. Protein Subcellular Relocalization Increases the Retention of Eukaryotic Duplicate Genes

    PubMed Central

    Byun, S. Ashley; Singh, Sarabdeep

    2013-01-01

    Gene duplication is widely accepted as a key evolutionary process, leading to new genes and novel protein functions. By providing the raw genetic material necessary for functional expansion, the mechanisms that involve the retention and functional diversification of duplicate genes are one of the central topics in evolutionary and comparative genomics. One proposed source of retention and functional diversification is protein subcellular relocalization (PSR). PSR postulates that changes in the subcellular location of eukaryotic duplicate proteins can positively modify function and therefore be beneficial to the organism. As such, PSR would promote retention of those relocalized duplicates and result in significantly lower death rates compared with death rates of nonrelocalized duplicate pairs. We surveyed both relocalized and nonrelocalized duplicate proteins from the available genomes and proteomes of 59 eukaryotic species and compared their relative death rates over a Ks range between 0 and 1. Using the Cox proportional hazard model, we observed that the death rates of relocalized duplicate pairs were significantly lower than the death rates of the duplicates without relocalization in most eukaryotic species examined in this study. These observations suggest that PSR significantly increases retention of duplicate genes and that it plays an important, but currently underappreciated, role in the evolution of eukaryotic genomes. PMID:24265504

  1. Functional requirements driving the gene duplication in 12 Drosophila species

    PubMed Central

    2013-01-01

    Background Gene duplication supplies the raw materials for novel gene functions and many gene families arisen from duplication experience adaptive evolution. Most studies of young duplicates have focused on mammals, especially humans, whereas reports describing their genome-wide evolutionary patterns across the closely related Drosophila species are rare. The sequenced 12 Drosophila genomes provide the opportunity to address this issue. Results In our study, 3,647 young duplicate gene families were identified across the 12 Drosophila species and three types of expansions, species-specific, lineage-specific and complex expansions, were detected in these gene families. Our data showed that the species-specific young duplicate genes predominated (86.6%) over the other two types. Interestingly, many independent species-specific expansions in the same gene family have been observed in many species, even including 11 or 12 Drosophila species. Our data also showed that the functional bias observed in these young duplicate genes was mainly related to responses to environmental stimuli and biotic stresses. Conclusions This study reveals the evolutionary patterns of young duplicates across 12 Drosophila species on a genomic scale. Our results suggest that convergent evolution acts on young duplicate genes after the species differentiation and adaptive evolution may play an important role in duplicate genes for adaption to ecological factors and environmental changes in Drosophila. PMID:23945147

  2. Nearby Dwarf Stars: Duplicity, Binarity, and Masses

    NASA Astrophysics Data System (ADS)

    Mason, Brian D.; Hartkopf, William I.; Henry, Todd J.; Jao, Wei-Chun; Subasavage, John; Riedel, Adric; Winters, Jennifer

    2010-02-01

    Double stars have proven to be both a blessing and a curse for astronomers since their discovery over two centuries ago. They remain the only reliable source of masses, the most fundamental parameter defining stars. On the other hand, their sobriquet ``vermin of the sky'' is well-earned, due to the complications they present to both observers and theoreticians. These range from non-linear proper motions to stray light in detectors, to confusion in pointing of instruments due to non-symmetric point spread functions, to angular momentum conservation in multiple stars which results in binaries closer than allowed by evolution of two single stars. This proposal is primarily focused on targets where precise astrophysical information is sorely lacking: white dwarfs, red dwarfs, and subdwarfs. The proposed work will refine current statistics regarding duplicity (chance alignments of nearby point sources) and binarity (actual physical relationships), and improve the precisions and accuracies of stellar masses. Several targets support Riedel's and Winters' theses.

  3. Nearby Dwarf Stars: Duplicity, Binarity, and Masses

    NASA Astrophysics Data System (ADS)

    Mason, Brian D.; Hartkopf, William I.; Henry, Todd J.; Jao, Wei-Chun; Subasavage, John; Riedel, Adric; Winters, Jennifer

    2009-08-01

    Double stars have proven to be both a blessing and a curse for astronomers since their discovery over two centuries ago. They remain the only reliable source of masses, the most fundamental parameter defining stars. On the other hand, their sobriquet ``vermin of the sky'' is well-earned, due to the complications they present to both observers and theoreticians. These range from non-linear proper motions to stray light in detectors, to confusion in pointing of instruments due to non-symmetric point spread functions, to angular momentum conservation in multiple stars which results in binaries closer than allowed by evolution of two single stars. This proposal is primarily focused on targets where precise astrophysical information is sorely lacking: white dwarfs, red dwarfs, and subdwarfs. The proposed work will refine current statistics regarding duplicity (chance alignments of nearby point sources) and binarity (actual physical relationships), and improve the precisions and accuracies of stellar masses. Several targets support Riedel's and Winters' theses.

  4. Expression of tandem gene duplicates is often greater than twofold

    PubMed Central

    Loehlin, David W.; Carroll, Sean B.

    2016-01-01

    Tandem gene duplication is an important mutational process in evolutionary adaptation and human disease. Hypothetically, two tandem gene copies should produce twice the output of a single gene, but this expectation has not been rigorously investigated. Here, we show that tandem duplication often results in more than double the gene activity. A naturally occurring tandem duplication of the Alcohol dehydrogenase (Adh) gene exhibits 2.6-fold greater expression than the single-copy gene in transgenic Drosophila. This tandem duplication also exhibits greater activity than two copies of the gene in trans, demonstrating that it is the tandem arrangement and not copy number that is the cause of overactivity. We also show that tandem duplication of an unrelated synthetic reporter gene is overactive (2.3- to 5.1-fold) at all sites in the genome that we tested, suggesting that overactivity could be a general property of tandem gene duplicates. Overactivity occurs at the level of RNA transcription, and therefore tandem duplicate overactivity appears to be a previously unidentified form of position effect. The increment of surplus gene expression observed is comparable to many regulatory mutations fixed in nature and, if typical of other genomes, would shape the fate of tandem duplicates in evolution. PMID:27162370

  5. Evolution After Whole-Genome Duplication: A Network Perspective

    PubMed Central

    Zhu, Yun; Lin, Zhenguo; Nakhleh, Luay

    2013-01-01

    Gene duplication plays an important role in the evolution of genomes and interactomes. Elucidating how evolution after gene duplication interplays at the sequence and network level is of great interest. In this work, we analyze a data set of gene pairs that arose through whole-genome duplication (WGD) in yeast. All these pairs have the same duplication time, making them ideal for evolutionary investigation. We investigated the interplay between evolution after WGD at the sequence and network levels and correlated these two levels of divergence with gene expression and fitness data. We find that molecular interactions involving WGD genes evolve at rates that are three orders of magnitude slower than the rates of evolution of the corresponding sequences. Furthermore, we find that divergence of WGD pairs correlates strongly with gene expression and fitness data. Because of the role of gene duplication in determining redundancy in biological systems and particularly at the network level, we investigated the role of interaction networks in elucidating the evolutionary fate of duplicated genes. We find that gene neighborhoods in interaction networks provide a mechanism for inferring these fates, and we developed an algorithm for achieving this task. Further epistasis analysis of WGD pairs categorized by their inferred evolutionary fates demonstrated the utility of these techniques. Finally, we find that WGD pairs and other pairs of paralogous genes of small-scale duplication origin share similar properties, giving good support for generalizing our results from WGD pairs to evolution after gene duplication in general. PMID:24048644

  6. Widespread genome duplications throughout the history of flowering plants

    PubMed Central

    Cui, Liying; Wall, P. Kerr; Leebens-Mack, James H.; Lindsay, Bruce G.; Soltis, Douglas E.; Doyle, Jeff J.; Soltis, Pamela S.; Carlson, John E.; Arumuganathan, Kathiravetpilla; Barakat, Abdelali; Albert, Victor A.; Ma, Hong; dePamphilis, Claude W.

    2006-01-01

    Genomic comparisons provide evidence for ancient genome-wide duplications in a diverse array of animals and plants. We developed a birth–death model to identify evidence for genome duplication in EST data, and applied a mixture model to estimate the age distribution of paralogous pairs identified in EST sets for species representing the basal-most extant flowering plant lineages. We found evidence for episodes of ancient genome-wide duplications in the basal angiosperm lineages including Nuphar advena (yellow water lily: Nymphaeaceae) and the magnoliids Persea americana (avocado: Lauraceae), Liriodendron tulipifera (tulip poplar: Magnoliaceae), and Saruma henryi (Aristolochiaceae). In addition, we detected independent genome duplications in the basal eudicot Eschscholzia californica (California poppy: Papaveraceae) and the basal monocot Acorus americanus (Acoraceae), both of which were distinct from duplications documented for ancestral grass (Poaceae) and core eudicot lineages. Among gymnosperms, we found equivocal evidence for ancient polyploidy in Welwitschia mirabilis (Gnetales) and no evidence for polyploidy in pine, although gymnosperms generally have much larger genomes than the angiosperms investigated. Cross-species sequence divergence estimates suggest that synonymous substitution rates in the basal angiosperms are less than half those previously reported for core eudicots and members of Poaceae. These lower substitution rates permit inference of older duplication events. We hypothesize that evidence of an ancient duplication observed in the Nuphar data may represent a genome duplication in the common ancestor of all or most extant angiosperms, except Amborella. PMID:16702410

  7. Supervised Learning for Detection of Duplicates in Genomic Sequence Databases

    PubMed Central

    Zobel, Justin; Zhang, Xiuzhen; Verspoor, Karin

    2016-01-01

    Motivation First identified as an issue in 1996, duplication in biological databases introduces redundancy and even leads to inconsistency when contradictory information appears. The amount of data makes purely manual de-duplication impractical, and existing automatic systems cannot detect duplicates as precisely as can experts. Supervised learning has the potential to address such problems by building automatic systems that learn from expert curation to detect duplicates precisely and efficiently. While machine learning is a mature approach in other duplicate detection contexts, it has seen only preliminary application in genomic sequence databases. Results We developed and evaluated a supervised duplicate detection method based on an expert curated dataset of duplicates, containing over one million pairs across five organisms derived from genomic sequence databases. We selected 22 features to represent distinct attributes of the database records, and developed a binary model and a multi-class model. Both models achieve promising performance; under cross-validation, the binary model had over 90% accuracy in each of the five organisms, while the multi-class model maintains high accuracy and is more robust in generalisation. We performed an ablation study to quantify the impact of different sequence record features, finding that features derived from meta-data, sequence identity, and alignment quality impact performance most strongly. The study demonstrates machine learning can be an effective additional tool for de-duplication of genomic sequence databases. All Data are available as described in the supplementary material. PMID:27489953

  8. MECP2 duplication: possible cause of severe phenotype in females.

    PubMed

    Scott Schwoerer, Jessica; Laffin, Jennifer; Haun, Joanne; Raca, Gordana; Friez, Michael J; Giampietro, Philip F

    2014-04-01

    MECP2 duplication syndrome, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To date, the disorder has been described almost exclusively in males. Female carriers of the duplication are thought to have no or mild phenotypic features. Recently, a phenotype for females began emerging. We describe a family with ∼290 kb duplication of Xq28 region that includes the MECP2 gene where the proposita and affected family members are female. Twin sisters, presumed identical, presented early with developmental delay, and seizures. Evaluation of the proposita at 25 years of age included microarray comparative genomic hybridization (aCGH) which revealed the MECP2 gene duplication. The same duplication was found in the proposita's sister, who is more severely affected, and the proband's mother who has mild intellectual disability and depression. X-chromosome inactivation studies showed significant skewing in the mother, but was uninformative in the twin sisters. We propose that the MECP2 duplication caused for the phenotype of the proband and her sister. These findings support evidence for varied severity in some females with MECP2 duplications. PMID:24458799

  9. 47 CFR 76.122 - Satellite network non-duplication.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 47 Telecommunication 4 2012-10-01 2012-10-01 false Satellite network non-duplication. 76.122... Sports Blackout § 76.122 Satellite network non-duplication. (a) Upon receiving notification pursuant to paragraph (c) of this section, a satellite carrier shall not deliver, to subscribers within zip code...

  10. 47 CFR 76.122 - Satellite network non-duplication.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 47 Telecommunication 4 2013-10-01 2013-10-01 false Satellite network non-duplication. 76.122... Sports Blackout § 76.122 Satellite network non-duplication. (a) Upon receiving notification pursuant to paragraph (c) of this section, a satellite carrier shall not deliver, to subscribers within zip code...

  11. 47 CFR 76.122 - Satellite network non-duplication.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 47 Telecommunication 4 2014-10-01 2014-10-01 false Satellite network non-duplication. 76.122... Sports Blackout § 76.122 Satellite network non-duplication. (a) Upon receiving notification pursuant to paragraph (c) of this section, a satellite carrier shall not deliver, to subscribers within zip code...

  12. Duplicated laboratory tests: evaluation of a computerized alert intervention abstract.

    PubMed

    Bridges, Sharon A; Papa, Linda; Norris, Anne E; Chase, Susan K

    2014-01-01

    Redundant testing contributes to reductions in healthcare system efficiency. The purpose of this study was to: (1) determine if the use of a computerized alert would reduce the number and cost of duplicated Acute Hepatitis Profile (AHP) laboratory tests and (2) assess what patient, test, and system factors were associated with duplication. This study used a quasi-experimental pre- and post-test design to determine the proportion of duplication of the AHP test before and after implementation of a computerized alert intervention. The AHP test was duplicated if the test was requested again within 15 days of the initial test being performed and the result present in the medical record. The intervention consisted of a computerized alert (pop-up window) that indicated to the clinician that the test had recently been ordered. A total of 674 AHP tests were performed in the pre-intervention period and 692 in the postintervention group. In the pre-intervention period, 53 (7.9%) were duplicated and in postintervention, 18 (2.6%) were duplicated (p<.001). The implementation of the alert was shown to significantly reduce associated costs of duplicated AHP tests (p≤.001). Implementation of computerized alerts may be useful in reducing duplicate laboratory tests and improving healthcare system efficiency. PMID:22963261

  13. Gallbladder Duplication Associated with Gastro-Intestinal Atresia

    PubMed Central

    Gupta, Rahul; Gupta, Shilpi; Sharma, Pramila; Bhandari, Anu; Gupta, Arun Kumar; Mathur, Praveen

    2016-01-01

    Gallbladder duplication in association with other GIT anomalies is a rare entity. We report two neonates; one with duodenal atresia and the other newborn with pyloric atresia, ileal atresia and colonic atresia, both were associated with gallbladder duplication which has not been reported earlier. PMID:27123398

  14. 42 CFR 457.626 - Prevention of duplicate payments.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Prevention of duplicate payments. 457.626 Section... Payments to States § 457.626 Prevention of duplicate payments. (a) General rule. No payment shall be made... CFR 144.103, which is not part of, or wholly owned by, a governmental entity. Prompt payment...

  15. 10 CFR 7.21 - Cost of duplication of documents.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Cost of duplication of documents. 7.21 Section 7.21 Energy NUCLEAR REGULATORY COMMISSION ADVISORY COMMITTEES § 7.21 Cost of duplication of documents. Copies of the records, reports, transcripts, minutes, appendices, working papers, drafts, studies, agenda, or...

  16. 10 CFR 7.21 - Cost of duplication of documents.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 10 Energy 1 2011-01-01 2011-01-01 false Cost of duplication of documents. 7.21 Section 7.21 Energy NUCLEAR REGULATORY COMMISSION ADVISORY COMMITTEES § 7.21 Cost of duplication of documents. Copies of the records, reports, transcripts, minutes, appendices, working papers, drafts, studies, agenda, or...

  17. 10 CFR 7.21 - Cost of duplication of documents.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 10 Energy 1 2013-01-01 2013-01-01 false Cost of duplication of documents. 7.21 Section 7.21 Energy NUCLEAR REGULATORY COMMISSION ADVISORY COMMITTEES § 7.21 Cost of duplication of documents. Copies of the records, reports, transcripts, minutes, appendices, working papers, drafts, studies, agenda, or...

  18. 10 CFR 7.21 - Cost of duplication of documents.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 10 Energy 1 2014-01-01 2014-01-01 false Cost of duplication of documents. 7.21 Section 7.21 Energy NUCLEAR REGULATORY COMMISSION ADVISORY COMMITTEES § 7.21 Cost of duplication of documents. Copies of the records, reports, transcripts, minutes, appendices, working papers, drafts, studies, agenda, or...

  19. 10 CFR 7.21 - Cost of duplication of documents.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 10 Energy 1 2012-01-01 2012-01-01 false Cost of duplication of documents. 7.21 Section 7.21 Energy NUCLEAR REGULATORY COMMISSION ADVISORY COMMITTEES § 7.21 Cost of duplication of documents. Copies of the records, reports, transcripts, minutes, appendices, working papers, drafts, studies, agenda, or...

  20. Multiple Routes to Subfunctionalization and Gene Duplicate Specialization

    PubMed Central

    Proulx, Stephen R.

    2012-01-01

    Gene duplication is arguably the most significant source of new functional genetic material. A better understanding of the processes that lead to the stable incorporation of gene duplications into the genome is important both because it relates to interspecific differences in genome composition and because it can shed light on why some classes of gene are more prone to duplication than others. Typically, models of gene duplication consider the periods before duplication, during the spread and fixation of a new duplicate, and following duplication as distinct phases without a common underlying selective environment. I consider a scenario where a gene that is initially expressed in multiple contexts can undergo mutations that alter its expression profile or its functional coding sequence. The selective regime that acts on the functional output of the allele copies carried by an individual is constant. If there is a potential selective benefit to having different coding sequences expressed in each context, then, regardless of the constraints on functional variation at the single-locus gene, the waiting time until a gene duplication is incorporated goes down as population size increases. PMID:22143920

  1. 33 CFR 173.73 - Duplicate certificate of number.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 2 2011-07-01 2011-07-01 false Duplicate certificate of number. 173.73 Section 173.73 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY... Number § 173.73 Duplicate certificate of number. If a certificate of number is lost or destroyed,...

  2. Ruptured rectal duplication with urogenital abnormality: Unusual presentation

    PubMed Central

    Solanki, Shailesh; Babu, M Narendra; Jadhav, Vinay; Shankar, Gowri; Santhanakrishnan, Ramesh

    2015-01-01

    Rectal duplication (RD) accounts for 5% of alimentary tract duplication. A varied presentation and associated anomalies have been described in the literature. Antenatal rupture of the RD is very rare. We present an unusual case of a ruptured RD associated with urogenital abnormalities in newborn male. We are discussing diagnosis, embryology, management and literature review of ruptured RD. PMID:25552833

  3. Gallbladder Duplication Associated with Gastro-Intestinal Atresia.

    PubMed

    Gupta, Rahul; Gupta, Shilpi; Sharma, Pramila; Bhandari, Anu; Gupta, Arun Kumar; Mathur, Praveen

    2016-01-01

    Gallbladder duplication in association with other GIT anomalies is a rare entity. We report two neonates; one with duodenal atresia and the other newborn with pyloric atresia, ileal atresia and colonic atresia, both were associated with gallbladder duplication which has not been reported earlier. PMID:27123398

  4. Analysis of recent segmental duplications in the bovine genome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Duplicated sequences are an important source of gene innovation and structural variation within mammalian genomes. We describe the first systematic and genome-wide analysis of segmental duplications in the modern domesticated cattle (Bos taurus). Using two distinct computational analyses, we estimat...

  5. 48 CFR 1352.231-71 - Duplication of effort.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... Duplication of effort. As prescribed in 48 CFR 1331.205-70, insert the following clause: Duplication of Effort (APR 2010) The contractor hereby certifies that costs for work to be performed under this contract and... that any and all work performed under this contract shall be directly and exclusively for the use...

  6. Laparoscopic resection of adult colon duplication causing intussusception

    PubMed Central

    Kyo, Kennoki; Azuma, Masaki; Okamoto, Kazuya; Nishiyama, Motohiro; Shimamura, Takahiro; Maema, Atsushi; Shirakawa, Motoaki; Nakamura, Toshio; Koda, Kenji; Yokoyama, Hidetaro

    2016-01-01

    Gastrointestinal duplications are uncommon congenital malformations that can occur anywhere along the gastrointestinal tract. Most cases are recognized before the age of 2 years, and those encountered in adults are rare. We describe here a case of ascending colon duplication in a 20-year-old male that caused intussusception and was treated laparoscopically. Although computed tomography revealed a cystic mass filled with stool-like material, the preoperative diagnosis was a submucosal tumor of the ascending colon. We performed a laparoscopic right colectomy, and the postoperative pathological diagnosis was duplication of the ascending colon, both cystic and tubular components. We conclude that gastrointestinal duplications, although rare, should be considered in the differential diagnosis of all abdominal and submucosal cystic lesions and that laparoscopy is a preferred approach for the surgical treatment of gastrointestinal duplications. PMID:26900303

  7. Laparoscopic resection of adult colon duplication causing intussusception.

    PubMed

    Kyo, Kennoki; Azuma, Masaki; Okamoto, Kazuya; Nishiyama, Motohiro; Shimamura, Takahiro; Maema, Atsushi; Shirakawa, Motoaki; Nakamura, Toshio; Koda, Kenji; Yokoyama, Hidetaro

    2016-02-21

    Gastrointestinal duplications are uncommon congenital malformations that can occur anywhere along the gastrointestinal tract. Most cases are recognized before the age of 2 years, and those encountered in adults are rare. We describe here a case of ascending colon duplication in a 20-year-old male that caused intussusception and was treated laparoscopically. Although computed tomography revealed a cystic mass filled with stool-like material, the preoperative diagnosis was a submucosal tumor of the ascending colon. We performed a laparoscopic right colectomy, and the postoperative pathological diagnosis was duplication of the ascending colon, both cystic and tubular components. We conclude that gastrointestinal duplications, although rare, should be considered in the differential diagnosis of all abdominal and submucosal cystic lesions and that laparoscopy is a preferred approach for the surgical treatment of gastrointestinal duplications. PMID:26900303

  8. Detection of tandam duplications and implications for linkage analysis

    SciTech Connect

    Matise, T.C.; Weeks, D.E. ); Chakravarti, A. ); Patel, P.I.; Lupski, J.R. ); Nelis, E.; Timmerman, V.; Van Broeckhoven, C. )

    1994-06-01

    The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within this duplication. To better understand how such a duplication might affect genetic analyses in the context of disease gene mapping, the authors studied the effects of marker duplication on transmission probabilities of marker alleles, on linkage analysis of an autosomal dominant disease, and on tests of linkage homogeneity. They demonstrate that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. In addition, they devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. They tested their methods through computer simulations and on CMT1A pedigrees genotyped at several chromosome 17 markers. On the simulated data, the method detected 96% of duplicated markers (with a false-positive rate of 5%). On the CMT1A data the method successfully identified two of three loci that are duplicated (with no false positives). This method could be used to identify duplicated markers in other regions of the genome and could be used to delineate the extent of duplications similar to that involved in CMT1A. 18 refs., 5 figs., 6 tabs.

  9. Histone modification pattern evolution after yeast gene duplication

    PubMed Central

    2012-01-01

    Background Gene duplication and subsequent functional divergence especially expression divergence have been widely considered as main sources for evolutionary innovations. Many studies evidenced that genetic regulatory network evolved rapidly shortly after gene duplication, thus leading to accelerated expression divergence and diversification. However, little is known whether epigenetic factors have mediated the evolution of expression regulation since gene duplication. In this study, we conducted detailed analyses on yeast histone modification (HM), the major epigenetics type in this organism, as well as other available functional genomics data to address this issue. Results Duplicate genes, on average, share more common HM-code patterns than random singleton pairs in their promoters and open reading frames (ORF). Though HM-code divergence between duplicates in both promoter and ORF regions increase with their sequence divergence, the HM-code in ORF region evolves slower than that in promoter region, probably owing to the functional constraints imposed on protein sequences. After excluding the confounding effect of sequence divergence (or evolutionary time), we found the evidence supporting the notion that in yeast, the HM-code may co-evolve with cis- and trans-regulatory factors. Moreover, we observed that deletion of some yeast HM-related enzymes increases the expression divergence between duplicate genes, yet the effect is lower than the case of transcription factor (TF) deletion or environmental stresses. Conclusions Our analyses demonstrate that after gene duplication, yeast histone modification profile between duplicates diverged with evolutionary time, similar to genetic regulatory elements. Moreover, we found the evidence of the co-evolution between genetic and epigenetic elements since gene duplication, together contributing to the expression divergence between duplicate genes. PMID:22776110

  10. Detection of tandem duplications and implications for linkage analysis.

    PubMed

    Matise, T C; Chakravarti, A; Patel, P I; Lupski, J R; Nelis, E; Timmerman, V; Van Broeckhoven, C; Weeks, D E

    1994-06-01

    The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within this duplication. To better understand how such a duplication might affect genetic analyses in the context of disease gene mapping, we studied the effects of marker duplication on transmission probabilities of marker alleles, on linkage analysis of an autosomal dominant disease, and on tests of linkage homogeneity. We demonstrate that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. In addition, we devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. We tested our methods through computer simulations and on CMT1A pedigrees genotyped at several chromosome 17 markers. On the simulated data, our method detected 96% of duplicated markers (with a false-positive rate of 5%). On the CMT1A data our method successfully identified two of three loci that are duplicated (with no false positives). This method could be used to identify duplicated markers in other regions of the genome and could be used to delineate the extent of duplications similar to that involved in CMT1A. PMID:8198134

  11. Novel Duplicate Address Detection with Hash Function.

    PubMed

    Song, GuangJia; Ji, ZhenZhou

    2016-01-01

    Duplicate address detection (DAD) is an important component of the address resolution protocol (ARP) and the neighbor discovery protocol (NDP). DAD determines whether an IP address is in conflict with other nodes. In traditional DAD, the target address to be detected is broadcast through the network, which provides convenience for malicious nodes to attack. A malicious node can send a spoofing reply to prevent the address configuration of a normal node, and thus, a denial-of-service attack is launched. This study proposes a hash method to hide the target address in DAD, which prevents an attack node from launching destination attacks. If the address of a normal node is identical to the detection address, then its hash value should be the same as the "Hash_64" field in the neighboring solicitation message. Consequently, DAD can be successfully completed. This process is called DAD-h. Simulation results indicate that address configuration using DAD-h has a considerably higher success rate when under attack compared with traditional DAD. Comparative analysis shows that DAD-h does not require third-party devices and considerable computing resources; it also provides a lightweight security resolution. PMID:26991901

  12. Nearby Dwarf Stars: Duplicity, Binarity, and Masses

    NASA Astrophysics Data System (ADS)

    Mason, Brian D.; Hatkopf, William I.; Raghavan, Deepak

    2008-02-01

    Double stars have proven to be both a blessing and a curse for astronomers since their discovery over two centuries ago. They remain the only reliable source of masses, the most fundamental parameter defining stars. On the other hand, their sobriquet ``vermin of the sky'' is well-earned, due to the complications they present to both observers and theoreticians. These range from non-linear proper motions to stray light in detectors, to confusion in pointing of instruments due to non-symmetric point spread functions, to angular momentum conservation in multiple stars which results in binaries closer than allowed by evolution of two single stars. This proposal is an effort to address both their positive and negative aspects, through speckle interferometric observations, targeting ~1200 systems where useful information can be obtained with only a single additional observation. The proposed work will refine current statistics regarding duplicity (chance alignments of nearby point sources) and binarity (actual physical relationships), and improve the precisions and accuracies of stellar masses. Several targets support Raghavan's Ph.D. thesis, which is a comprehensive survey aimed at determining the multiplicity fraction among solar-type stars.

  13. Nearby Dwarf Stars: Duplicity, Binarity, and Masses

    NASA Astrophysics Data System (ADS)

    Mason, Brian D.; Hartkopf, William I.; Raghavan, Deepak

    2007-08-01

    Double stars have proven to be both a blessing and a curse for astronomers since their discovery over two centuries ago. They remain the only reliable source of masses, the most fundamental parameter defining stars. On the other hand, their sobriquet ``vermin of the sky'' is well-earned, due to the complications they present to both observers and theoreticians. These range from non-linear proper motions to stray light in detectors, to confusion in pointing of instruments due to non-symmetric point spread functions, to angular momentum conservation in multiple stars which results in binaries closer than allowed by evolution of two single stars. This proposal is an effort to address both their positive and negative aspects, through speckle interferometric observations, targeting ~1200 systems where useful information can be obtained with only a single additional observation. The proposed work will refine current statistics regarding duplicity (chance alignments of nearby point sources) and binarity (actual physical relationships), and improve the precisions and accuracies of stellar masses. Several targets support Raghavan's Ph.D. thesis, which is a comprehensive survey aimed at determining the multiplicity fraction among solar-type stars.

  14. Novel Duplicate Address Detection with Hash Function

    PubMed Central

    Song, GuangJia; Ji, ZhenZhou

    2016-01-01

    Duplicate address detection (DAD) is an important component of the address resolution protocol (ARP) and the neighbor discovery protocol (NDP). DAD determines whether an IP address is in conflict with other nodes. In traditional DAD, the target address to be detected is broadcast through the network, which provides convenience for malicious nodes to attack. A malicious node can send a spoofing reply to prevent the address configuration of a normal node, and thus, a denial-of-service attack is launched. This study proposes a hash method to hide the target address in DAD, which prevents an attack node from launching destination attacks. If the address of a normal node is identical to the detection address, then its hash value should be the same as the “Hash_64” field in the neighboring solicitation message. Consequently, DAD can be successfully completed. This process is called DAD-h. Simulation results indicate that address configuration using DAD-h has a considerably higher success rate when under attack compared with traditional DAD. Comparative analysis shows that DAD-h does not require third-party devices and considerable computing resources; it also provides a lightweight security resolution. PMID:26991901

  15. Duplication Cyst Presenting as Hydrocoele in a Child.

    PubMed

    Liaqat, Naeem; Nayyer, Sajid; Yousaf, Abdul Rehman; Iqbal, Nayyer; Ahmed, Ejaz; Dar, Sajid Hameed

    2015-10-01

    Enteric duplication cyst can occur anywhere in Gastrointestinal Tract (GIT), from oropharynx to rectum. Their presentation depends upon the portion of GIT involved. The most common site of GIT involved is small intestine, in 50% of cases. Small intestinal duplication cyst usually present with abdominal pain or mass and rarely as intussusception, volvulus or small bowel obstruction. It may also present very rarely as inguinal hernia of which only 2 cases have been reported yet. We report a 3 years child presenting as hydrocoele of the cord which turned to be duplication cyst which is very rare presentation. PMID:26454396

  16. Methods, apparatus and system for selective duplication of subtasks

    DOEpatents

    Andrade Costa, Carlos H.; Cher, Chen-Yong; Park, Yoonho; Rosenburg, Bryan S.; Ryu, Kyung D.

    2016-03-29

    A method for selective duplication of subtasks in a high-performance computing system includes: monitoring a health status of one or more nodes in a high-performance computing system, where one or more subtasks of a parallel task execute on the one or more nodes; identifying one or more nodes as having a likelihood of failure which exceeds a first prescribed threshold; selectively duplicating the one or more subtasks that execute on the one or more nodes having a likelihood of failure which exceeds the first prescribed threshold; and notifying a messaging library that one or more subtasks were duplicated.

  17. Licensing of yeast centrosome duplication requires phosphoregulation of sfi1.

    PubMed

    Avena, Jennifer S; Burns, Shannon; Yu, Zulin; Ebmeier, Christopher C; Old, William M; Jaspersen, Sue L; Winey, Mark

    2014-10-01

    Duplication of centrosomes once per cell cycle is essential for bipolar spindle formation and genome maintenance and is controlled in part by cyclin-dependent kinases (Cdks). Our study identifies Sfi1, a conserved component of centrosomes, as the first Cdk substrate required to restrict centrosome duplication to once per cell cycle. We found that reducing Cdk1 phosphorylation by changing Sfi1 phosphorylation sites to nonphosphorylatable residues leads to defects in separation of duplicated spindle pole bodies (SPBs, yeast centrosomes) and to inappropriate SPB reduplication during mitosis. These cells also display defects in bipolar spindle assembly, chromosome segregation, and growth. Our findings lead to a model whereby phosphoregulation of Sfi1 by Cdk1 has the dual function of promoting SPB separation for spindle formation and preventing premature SPB duplication. In addition, we provide evidence that the protein phosphatase Cdc14 has the converse role of activating licensing, likely via dephosphorylation of Sfi1. PMID:25340401

  18. Licensing of Yeast Centrosome Duplication Requires Phosphoregulation of Sfi1

    PubMed Central

    Avena, Jennifer S.; Burns, Shannon; Yu, Zulin; Ebmeier, Christopher C.; Old, William M.; Jaspersen, Sue L.; Winey, Mark

    2014-01-01

    Duplication of centrosomes once per cell cycle is essential for bipolar spindle formation and genome maintenance and is controlled in part by cyclin-dependent kinases (Cdks). Our study identifies Sfi1, a conserved component of centrosomes, as the first Cdk substrate required to restrict centrosome duplication to once per cell cycle. We found that reducing Cdk1 phosphorylation by changing Sfi1 phosphorylation sites to nonphosphorylatable residues leads to defects in separation of duplicated spindle pole bodies (SPBs, yeast centrosomes) and to inappropriate SPB reduplication during mitosis. These cells also display defects in bipolar spindle assembly, chromosome segregation, and growth. Our findings lead to a model whereby phosphoregulation of Sfi1 by Cdk1 has the dual function of promoting SPB separation for spindle formation and preventing premature SPB duplication. In addition, we provide evidence that the protein phosphatase Cdc14 has the converse role of activating licensing, likely via dephosphorylation of Sfi1. PMID:25340401

  19. A Simulation Model for Purchasing Duplicate Copies in a Library

    ERIC Educational Resources Information Center

    Arms, W. Y.; Walter, T. P.

    1974-01-01

    A method of estimating the number of duplicate copies of books needed based on a computer simulation which takes into account number of copies available, number of loans, total underlying demand, satisfaction level, percentage time on shelf. (LS)

  20. Ectopic Ureter Accompanied by Duplicated Ureter: Three Cases.

    PubMed

    Senel, Ufuk; Tanriverdi, Halil Ibrahim; Ozmen, Zafer; Sozubir, Selami

    2015-09-01

    We report cases of ectopic ureter accompanied by three types of ureteral duplication that had been diagnosed previously and treated for enuresis. Data from three female patients ranging in age from 1 to 10 years were evaluated. The ectopic ureter was observed on the left in one case, on the right in another and bilateral in the third case. Complete duplication was found in two cases, while the third had incomplete duplication. Ureteroneocystostomy was performed in one case and subtotal nephrectomy was carried out in the other two cases. Ureteroneocystostomy was performed for the ectopic ureter found in the opposite urinary system in one of the cases. Ectopic duplicated ureter should be considered in treatment-resistant enuresis and urinary tract infections and after a careful physical examination, imaging as well as function tests should be performed. PMID:26500949

  1. Gene duplication and the evolution of moonlighting proteins.

    PubMed

    Espinosa-Cantú, Adriana; Ascencio, Diana; Barona-Gómez, Francisco; DeLuna, Alexander

    2015-01-01

    Gene duplication is a recurring phenomenon in genome evolution and a major driving force in the gain of biological functions. Here, we examine the role of gene duplication in the origin and maintenance of moonlighting proteins, with special focus on functional redundancy and innovation, molecular tradeoffs, and genetic robustness. An overview of specific examples-mainly from yeast-suggests a widespread conservation of moonlighting behavior in duplicate genes after long evolutionary times. Dosage amplification and incomplete subfunctionalization appear to be prevalent in the maintenance of multifunctionality. We discuss the role of gene-expression divergence and paralog responsiveness in moonlighting proteins with overlapping biochemical properties. Future studies analyzing multifunctional genes in a more systematic and comprehensive manner will not only enable a better understanding of how this emerging class of protein behavior originates and is maintained, but also provide new insights on the mechanisms of evolution by gene duplication. PMID:26217376

  2. Dietary intakes of pesticides based on community duplicate diet samples

    EPA Science Inventory

    The calculation of dietary intake of selected pesticides was accomplished using food samples collected from individual representatives of a defined demographic community using a community duplicate diet approach. A community of nine participants was identified in Apopka, FL from...

  3. A case of sigmoid colon duplication in an adult woman.

    PubMed

    Al-Jaroof, Abdulla Hassan; Al-Zayer, Faisal; Meshikhes, Abdul-Wahed Nasir

    2014-01-01

    Colonic duplication is a rare congenital anomaly that is often diagnosed in childhood, but may go unrecognised until adulthood. It often presents with chronic abdominal pain and constipation, and the preoperative diagnosis may be difficult. We present a case of sigmoid duplication in a 33-year-old Indonesian woman who presented with right-sided colicky abdominal pain and vomiting. Clinical examination was unremarkable and radiological investigations raised the possibility of a giant colon diverticulum. The patient underwent exploratory laparotomy that revealed a tubular sigmoid duplication. A sigmoid colectomy with end-to-end anastomosis was performed. She was discharged a week later and remained well at 1 year follow-up. Colon duplications rarely present in adult life and the accurate diagnosis is often made at laparotomy. PMID:25096653

  4. p53 protects against genome instability following centriole duplication failure

    PubMed Central

    Lambrus, Bramwell G.; Uetake, Yumi; Clutario, Kevin M.; Daggubati, Vikas; Snyder, Michael; Sluder, Greenfield

    2015-01-01

    Centriole function has been difficult to study because of a lack of specific tools that allow persistent and reversible centriole depletion. Here we combined gene targeting with an auxin-inducible degradation system to achieve rapid, titratable, and reversible control of Polo-like kinase 4 (Plk4), a master regulator of centriole biogenesis. Depletion of Plk4 led to a failure of centriole duplication that produced an irreversible cell cycle arrest within a few divisions. This arrest was not a result of a prolonged mitosis, chromosome segregation errors, or cytokinesis failure. Depleting p53 allowed cells that fail centriole duplication to proliferate indefinitely. Washout of auxin and restoration of endogenous Plk4 levels in cells that lack centrioles led to the penetrant formation of de novo centrioles that gained the ability to organize microtubules and duplicate. In summary, we uncover a p53-dependent surveillance mechanism that protects against genome instability by preventing cell growth after centriole duplication failure. PMID:26150389

  5. Habitat Variability Correlates with Duplicate Content of Drosophila Genomes

    PubMed Central

    Makino, Takashi; Kawata, Masakado

    2012-01-01

    The factors limiting the habitat range of species are crucial in understanding their biodiversity and response to environmental change. Yet the genetic and genomic architectures that produce genetic variation to enable environmental adaptation have remained poorly understood. Here we show that the proportion of duplicated genes (PD) in the whole genomes of fully sequenced Drosophila species is significantly correlated with environmental variability within the habitats measured by the climatic envelope and habitat diversity. Furthermore, species with a low PD tend to lose the duplicated genes owing to their faster evolution. These results indicate that the rapid relaxation of functional constraints on duplicated genes resulted in a low PD for species with lower habitat diversity, and suggest that the maintenance of duplicated genes gives organisms an ecological advantage during evolution. We therefore propose that the PD in a genome is related to adaptation to environmental variation. PMID:22586328

  6. Familial partial duplication (1)(p21p31)

    SciTech Connect

    Hoechstetter, L.; Soukup, S.; Schorry, E.K.

    1995-11-20

    A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed. 8 refs., 5 figs., 1 tab.

  7. Tandem duplication of chromosome 14 (q12q13).

    PubMed

    Verma, R S; Kleyman, S M; Conte, R A; Laqui-Pili, C; Bennett, H

    1997-01-01

    A nine-years-old Egyptian boy was referred for speech and language delay. He has an I.Q. of 35 which is in the moderately to severely delayed range. Routine cytogenetic and FISH-techniques revealed a de novo tandem duplication of chromosome 14 bands q12 and q13, i.e., 46, XY, dup (14)(q12q13) and there are no investigations reporting a direct de novo duplication for this region. PMID:9526614

  8. Pituitary duplication associated with oral dermoid and corpus callosum hypogenesis.

    PubMed

    Mutlu, Hakan; Paker, Bilhan; Gunes, Nilufer; Emektar, Ali; Keceli, Merter; Kantarci, Mecit

    2004-12-01

    We report a case of pituitary duplication in a neonate girl whose magnetic resonance (MR) images showed unusual findings of hypogenesis of the corpus callosum and oral dermoid. Pituitary duplication is an extremely rare malformation, with only a few previously reported cases. It occurs most commonly in association with complicated midline and skull base anomalies. We present a case of this malformation with special emphasis on the hypogenesis of splenium of the corpus callosum and oral dermoid. PMID:15565346

  9. Maintenance and Loss of Duplicated Genes by Dosage Subfunctionalization.

    PubMed

    Gout, Jean-Francois; Lynch, Michael

    2015-08-01

    Whole-genome duplications (WGDs) have contributed to gene-repertoire enrichment in many eukaryotic lineages. However, most duplicated genes are eventually lost and it is still unclear why some duplicated genes are evolutionary successful whereas others quickly turn to pseudogenes. Here, we show that dosage constraints are major factors opposing post-WGD gene loss in several Paramecium species that share a common ancestral WGD. We propose a model where a majority of WGD-derived duplicates preserve their ancestral function and are retained to produce enough of the proteins performing this same ancestral function. Under this model, the expression level of individual duplicated genes can evolve neutrally as long as they maintain a roughly constant summed expression, and this allows random genetic drift toward uneven contributions of the two copies to total expression. Our analysis suggests that once a high level of imbalance is reached, which can require substantial lengths of time, the copy with the lowest expression level contributes a small enough fraction of the total expression that selection no longer opposes its loss. Extension of our analysis to yeast species sharing a common ancestral WGD yields similar results, suggesting that duplicated-gene retention for dosage constraints followed by divergence in expression level and eventual deterministic gene loss might be a universal feature of post-WGD evolution. PMID:25908670

  10. Has gene duplication impacted the evolution of Eutherian longevity?

    PubMed

    Doherty, Aoife; de Magalhães, João Pedro

    2016-10-01

    One of the greatest unresolved questions in aging biology is determining the genetic basis of interspecies longevity variation. Gene duplication is often the key to understanding the origin and evolution of important Eutherian phenotypes. We systematically identified longevity-associated genes in model organisms that duplicated throughout Eutherian evolution. Longevity-associated gene families have a marginally significantly higher rate of duplication compared to non-longevity-associated gene families. Anti-longevity-associated gene families have significantly increased rate of duplication compared to pro-longevity gene families and are enriched in neurodegenerative disease categories. Conversely, duplicated pro-longevity-associated gene families are enriched in cell cycle genes. There is a cluster of longevity-associated gene families that expanded solely in long-lived species that is significantly enriched in pathways relating to 3-UTR-mediated translational regulation, metabolism of proteins and gene expression, pathways that have the potential to affect longevity. The identification of a gene cluster that duplicated solely in long-lived species involved in such fundamental processes provides a promising avenue for further exploration of Eutherian longevity evolution. PMID:27378378

  11. Duplication of floral regulatory genes in the Lamiales.

    PubMed

    Aagaard, Jan E; Olmstead, Richard G; Willis, John H; Phillips, Patrick C

    2005-08-01

    Duplication of some floral regulatory genes has occurred repeatedly in angiosperms, whereas others are thought to be single-copy in most lineages. We selected three genes that interact in a pathway regulating floral development conserved among higher tricolpates (LFY/FLO, UFO/FIM, and AP3/DEF) and screened for copy number among families of Lamiales that are closely related to the model species Antirrhinum majus. We show that two of three genes have duplicated at least twice in the Lamiales. Phylogenetic analyses of paralogs suggest that an ancient whole genome duplication shared among many families of Lamiales occurred after the ancestor of these families diverged from the lineage leading to Veronicaceae (including the single-copy species A. majus). Duplication is consistent with previous patterns among angiosperm lineages for AP3/DEF, but this is the first report of functional duplicate copies of LFY/FLO outside of tetraploid species. We propose Lamiales taxa will be good models for understanding mechanisms of duplicate gene preservation and how floral regulatory genes may contribute to morphological diversity. PMID:21646149

  12. Efficient edit distance with duplications and contractions

    PubMed Central

    2013-01-01

    We propose three algorithms for string edit distance with duplications and contractions. These include an efficient general algorithm and two improvements which apply under certain constraints on the cost function. The new algorithms solve a more general problem variant and obtain better time complexities with respect to previous algorithms. Our general algorithm is based on min-plus multiplication of square matrices and has time and space complexities of O (|Σ|MP (n)) and O (|Σ|n2), respectively, where |Σ| is the alphabet size, n is the length of the strings, and MP (n) is the time bound for the computation of min-plus matrix multiplication of two n × n matrices (currently, MP(n)=On3log3lognlog2n due to an algorithm by Chan). For integer cost functions, the running time is further improved to O|Σ|n3log2n. In addition, this variant of the algorithm is online, in the sense that the input strings may be given letter by letter, and its time complexity bounds the processing time of the first n given letters. This acceleration is based on our efficient matrix-vector min-plus multiplication algorithm, intended for matrices and vectors for which differences between adjacent entries are from a finite integer interval D. Choosing a constant 1log|D|n<λ<1, the algorithm preprocesses an n × n matrix in On2+λ|D| time and On2+λ|D|λ2log|D|2n space. Then, it may multiply the matrix with any given n-length vector in On2λ2log|D|2n time. Under some discreteness assumptions, this matrix-vector min-plus multiplication algorithm applies to several problems from the domains of context-free grammar parsing and RNA folding and, in particular, implies the asymptotically fastest On3log2n time algorithm for single-strand RNA folding with discrete cost functions. Finally, assuming a different constraint on the cost function, we present another version of the algorithm that exploits the run-length encoding of the strings and runs in O|Σ|nMP(ñ)ñ time and O

  13. TECHNIQUES OF TAPE PREPARATION AND DUPLICATION, WITH SUGGESTIONS FOR A LANGUAGE LABORATORY.

    ERIC Educational Resources Information Center

    Kansas State Dept. of Public Instruction, Topeka.

    PART ONE OF THIS BULLETIN PROVIDES HELP IN THE TWO CRITICAL AREAS OF MASTER TAPE PREPARATION AND DUPLICATION. SUPPLEMENTED BY NUMEROUS PHOTOGRAPHS AND DIAGRAMS OF EQUIPMENT AND DUPLICATION TECHNIQUES, THE BULLETIN DESCRIBES MASTER PROGRAM DUPLICATION USING LANGUAGE LABORATORY EQUIPMENT, A PROFESSIONAL MASS DUPLICATOR, A TAPE RECORDER, A RECORD…

  14. Antenatal diagnosis of renal duplication by ultrasonography: report on four cases at a referral center.

    PubMed

    Queiroga, Edward Enéas D; Martins, Marília G; Rios, Lívia T; Araujo Júnior, Edward; Oliveira, Ricardo V; Nardozza, Luciano M; Moron, Antonio F

    2013-01-01

    Duplication of the renal collecting system is the commonest major congenital malformation of the urinary tract, with an incidence of 1% among live births. Antenatal diagnosing of renal duplication and an associated ureterocele is infrequent. We report four cases of prenatally diagnosed unilateral duplication of the renal collecting system. In two of them, the renal duplication was associated with an ectopic ureterocele. PMID:24469664

  15. Duplication and maintenance of the Myb genes of vertebrate animals

    PubMed Central

    Davidson, Colin J.; Guthrie, Erin E.; Lipsick, Joseph S.

    2013-01-01

    Summary Gene duplication is an important means of generating new genes. The major mechanisms by which duplicated genes are preserved in the face of purifying selection are thought to be neofunctionalization, subfunctionalization, and increased gene dosage. However, very few duplicated gene families in vertebrate species have been analyzed by functional tests in vivo. We have therefore examined the three vertebrate Myb genes (c-Myb, A-Myb, and B-Myb) by cytogenetic map analysis, by sequence analysis, and by ectopic expression in Drosophila. We provide evidence that the vertebrate Myb genes arose by two rounds of regional genomic duplication. We found that ubiquitous expression of c-Myb and A-Myb, but not of B-Myb or Drosophila Myb, was lethal in Drosophila. Expression of any of these genes during early larval eye development was well tolerated. However, expression of c-Myb and A-Myb, but not of B-Myb or Drosophila Myb, during late larval eye development caused drastic alterations in adult eye morphology. Mosaic analysis implied that this eye phenotype was cell-autonomous. Interestingly, some of the eye phenotypes caused by the retroviral v-Myb oncogene and the normal c-Myb proto-oncogene from which v-Myb arose were quite distinct. Finally, we found that post-translational modifications of c-Myb by the GSK-3 protein kinase and by the Ubc9 SUMO-conjugating enzyme that normally occur in vertebrate cells can modify the eye phenotype caused by c-Myb in Drosophila. These results support a model in which the three Myb genes of vertebrates arose by two sequential duplications. The first duplication was followed by a subfunctionalization of gene expression, then neofunctionalization of protein function to yield a c/A-Myb progenitor. The duplication of this progenitor was followed by subfunctionalization of gene expression to give rise to tissue-specific c-Myb and A-Myb genes. PMID:23431116

  16. The duplication of the Hox gene clusters in teleost fishes.

    PubMed

    Prohaska, Sonja J; Stadler, Peter F

    2004-06-01

    Higher teleost fishes, including zebrafish and fugu, have duplicated their Hox genes relative to the gene inventory of other gnathostome lineages. The most widely accepted theory contends that the duplicate Hox clusters orginated synchronously during a single genome duplication event in the early history of ray-finned fishes. In this contribution we collect and re-evaluate all publicly available sequence information. In particular, we show that the short Hox gene fragments from published PCR surveys of the killifish Fundulus heteroclitus, the medaka Oryzias latipes and the goldfish Carassius auratus can be used to determine with little ambiguity not only their paralog group but also their membership in a particular cluster.Together with a survey of the genomic sequence data from the pufferfish Tetraodon nigroviridis we show that at least percomorpha, and possibly all eutelosts, share a system of 7 or 8 orthologous Hox gene clusters. There is little doubt about the orthology of the two teleost duplicates of the HoxA and HoxB clusters. A careful analysis of both the coding sequence of Hox genes and of conserved non-coding sequences provides additional support for the "duplication early" hypothesis that the Hox clusters in teleosts are derived from eight ancestral clusters by means of subsequent gene loss; the data remain ambiguous, however, in particular for the HoxC clusters.Assuming the "duplication early" hypothesis we use the new evidence on the Hox gene complements to determine the phylogenetic positions of gene-loss events in the wake of the cluster duplication. Surprisingly, we find that the resolution of redundancy seems to be a slow process that is still ongoing. A few suggestions on which additional sequence data would be most informative for resolving the history of the teleostean Hox genes are discussed. PMID:18202881

  17. Investigating the root causes of duplicate publication in research articles

    PubMed Central

    Adibi, Payman; Kianpour, Maryam; Shirani, Shahin

    2015-01-01

    Duplicate publication is the republication of an article in which a lot of important parts overlap with the published copy. This issue is nearly at the top of the list of subjects, which medical journal editors discuss. this study was conducted with the purpose of investigating the publication patterns and determining it's root causes in research articles in the Isfahan University of Medical Science and to find a solution to prevent it. In a cross sectional study, All the discovered cases of duplicate publication, which were referred to the ethics committee of the Isfahan University of Medical Science during 2005–2008 were selected to be investigated through a descriptive method. After confirmation about the case of a duplicate publication, the requisite investigation was conducted through interviews and review of the correspondence and documentaries, and then, a radical line was charted. After investigating the cases and classifying the radical causes and incidents, categorization and definition of duplicate publication are presented. Eight out of nine republished articles belonged to the first category of Baily's index (copy publication) and one was in the third category (minimum publishable unit: Salami slicing). The results of the present article indicate that, the scientific community of the country is not yet familiar with the professional principles of scientific and research affairs. According to the results of this investigation, it is recommended to take official action against duplicate publication cases, violation of copyright, and also to have strict instructions against this unethical practice. PMID:25861659

  18. Retrotransposon "Qian" mediated segmental duplication in silkworm, Bombyx mori.

    PubMed

    Xu, Yunmin; Jiang, Ning; Zou, Ziliang; Tu, Zhijian; Chen, Anli; Zhao, Qiaoling; Xiang, Zhonghuai; He, Ningjia

    2014-03-01

    Transposable elements constitute a large fraction of the eukaryotic genomes. They have the potential to alter genome structure and play a major role in genome evolution. Here, we report a segmental duplication mediated by a novel long terminal repeat (LTR) retrotransposon as the cause of an egg-shell recessive lethal mutant (l-em mutant) in silkworm (Bombyx mori). The segmental duplication resulted in the duplication of six genes and the disruption of two genes. Disruption of BmEP80 (B. mori egg protein 80), a gene encoding a major egg-shell structure protein, is likely responsible for the lethal water-loss phenotype in the l-em/l-em mutant. Our data revealed that BmEP80 is present in the inner egg-shell layer and plays important roles in resistance to water efflux form eggs. A novel LTR retrotransposon (named as "Qian") was identified and the model for the Qian-mediated chromosomal segmental duplication was proposed. Detail biochemical and genomic analyses on the l-em mutant offer an opportunity to demonstrate that an LTR retrotransposon could trigger duplication of a chromosomal segment (∼96.3 kb) and confer novel phenotype. PMID:24462715

  19. [Advance in research on MRCP2 duplication syndrome].

    PubMed

    Zhang, Qingping; Bao, Xinhua

    2015-06-01

    Methyl-CpG-binding protein 2 gene (MECP2; OMIM 300005) is located at chromosome Xq28. Mutations of the gene including point mutation, duplication and deletion can lead to severe neurodevelopmental disorders. The disease caused by duplication of the entire MECP2 gene, named as MECP2 duplication syndrome, is mostly seen in males. The clinical manifestation of this syndrome include mental retardation, hypotonia, poor speech development, recurrent infection, progressive spasticity, epilepsy, autism or autistic features with or without midface hypoplasia. Most patients have inherited the duplication from their unaffected mothers, with only a few cases having de novo mutation. Females with duplicated MECP2 gene are typically asymptomatic because of a skewed X chromosome inactivation (XCI) pattern. Proposed mechanisms of this genomic rearrangement include fork stalling and template switching (FoSTeS) and microhomology mediated break-induced replication (MMBIR). Since no effective treatment is available for this disease, proper genetic counseling and prenatal diagnosis for the high risk families are crucial. PMID:26037367

  20. Site-specific basal body duplication in Chlamydomonas.

    PubMed

    O'Toole, Eileen T; Dutcher, Susan K

    2014-02-01

    Correct centriole/basal body positioning is required for numerous biological processes, yet how the cell establishes this positioning is poorly understood. Analysis of centriolar/basal body duplication provides a key to understanding basal body positioning and function. Chlamydomonas basal bodies contain structural features that enable specific triplet microtubules to be specified. Electron tomography of cultures enriched in mitotic cells allowed us to follow basal body duplication and identify a specific triplet at which duplication occurs. Probasal bodies elongate in prophase, assemble transitional fibers (TF) and are segregated with a mature basal body near the poles of the mitotic spindle. A ring of nine-singlet microtubules is initiated at metaphase, orthogonal to triplet eight. At telophase/cytokinesis, triplet microtubule blades assemble first at the distal end, rather than at the proximal cartwheel. The cartwheel undergoes significant changes in length during duplication, which provides further support for its scaffolding role. The uni1-1 mutant contains short basal bodies with reduced or absent TF and defective transition zones, suggesting that the UNI1 gene product is important for coordinated probasal body elongation and maturation. We suggest that this site-specific basal body duplication ensures the correct positioning of the basal body to generate landmarks for intracellular patterning in the next generation. PMID:24166861

  1. Autosomal dominant Parkinson's disease caused by SNCA duplications.

    PubMed

    Konno, Takuya; Ross, Owen A; Puschmann, Andreas; Dickson, Dennis W; Wszolek, Zbigniew K

    2016-01-01

    The discovery in 1997 that mutations in the SNCA gene cause Parkinson's disease (PD) greatly advanced our understanding of this illness. There are pathogenic missense mutations and multiplication mutations in SNCA. Thus, not only a mutant protein, but also an increased dose of wild-type protein can produce autosomal dominant parkinsonism. We review the literature on SNCA duplications and focus on pathologically-confirmed cases. We also report a newly-identified American family with SNCA duplication whose proband was autopsied. We found that over half of the reported cases with SNCA duplication had early-onset parkinsonism and non-motor features, such as dysautonomia, rapid eye movement sleep behavior disorder (RBD), hallucinations (usually visual) and cognitive deficits leading to dementia. Only a few cases have presented with typical features of PD. Our case presented with depression and RBD that preceded parkinsonism, and dysautonomia that led to an initial diagnosis of multiple system atrophy. Dementia and visual hallucinations followed. Our patient and the other reported cases with SNCA duplications had widespread cortical Lewy pathology. Neuronal loss in the hippocampal cornu ammonis 2/3 regions were seen in about half of the autopsied SNCA duplication cases. Similar pathology was also observed in SNCA missense mutation and triplication carriers. PMID:26350119

  2. Proximity interactions among centrosome components identify regulators of centriole duplication.

    PubMed

    Firat-Karalar, Elif Nur; Rauniyar, Navin; Yates, John R; Stearns, Tim

    2014-03-17

    The centrosome consists of a pair of centrioles and surrounding pericentriolar material (PCM). Many vertebrate cells also have an array of granules, termed centriolar satellites, that localize around the centrosome and are associated with centrosome and cilium function. Centriole duplication occurs once per cell cycle and is effected by a set of proteins including PLK4, CEP192, CEP152, CEP63, and CPAP. Information on the relationships between these components is limited due to the difficulty in assaying interactions in the context of the centrosome. Here, we used proximity-dependent biotin identification (BioID) to identify proximity interactions among centriole duplication proteins. PLK4, CEP192, and CEP152 BioID identified known physically interacting proteins and a new interaction between CEP152 and CDK5RAP2 consistent with a function of CEP152 in PCM recruitment. BioID for CEP63 and its paralog CCDC67 revealed extensive proximity interactions with centriolar satellite proteins. Focusing on these satellite proteins identified two new regulators of centriole duplication, CCDC14 and KIAA0753. Both proteins colocalize with CEP63 to satellites, bind to CEP63, and identify other satellite proteins by BioID. KIAA0753 positively regulates centriole duplication and CEP63 centrosome localization, whereas CCDC14 negatively regulates both processes. These results suggest that centriolar satellites have a previously unappreciated function in regulating centriole duplication. PMID:24613305

  3. PGDD: a database of gene and genome duplication in plants

    PubMed Central

    Lee, Tae-Ho; Tang, Haibao; Wang, Xiyin; Paterson, Andrew H.

    2013-01-01

    Genome duplication (GD) has permanently shaped the architecture and function of many higher eukaryotic genomes. The angiosperms (flowering plants) are outstanding models in which to elucidate consequences of GD for higher eukaryotes, owing to their propensity for chromosomal duplication or even triplication in a few cases. Duplicated genome structures often require both intra- and inter-genome alignments to unravel their evolutionary history, also providing the means to deduce both obvious and otherwise-cryptic orthology, paralogy and other relationships among genes. The burgeoning sets of angiosperm genome sequences provide the foundation for a host of investigations into the functional and evolutionary consequences of gene and GD. To provide genome alignments from a single resource based on uniform standards that have been validated by empirical studies, we built the Plant Genome Duplication Database (PGDD; freely available at http://chibba.agtec.uga.edu/duplication/), a web service providing synteny information in terms of colinearity between chromosomes. At present, PGDD contains data for 26 plants including bryophytes and chlorophyta, as well as angiosperms with draft genome sequences. In addition to the inclusion of new genomes as they become available, we are preparing new functions to enhance PGDD. PMID:23180799

  4. Challenging Case of Postmenopausal Bleeding and Complete Urogenital Duplication.

    PubMed

    Grechukhina, Olga; English, Diana P; Miller, Devin; Ratner, Elena

    2016-01-01

    BACKGROUND Müllerian duct anomalies represent a wide spectrum of congenital abnormalities ranging from simple uterine anomalies to more complex multisystem derangements. Complete duplication of uterus, cervix, and vagina may be associated with urologic and caudal gastrointestinal malformations. CASE REPORT We present a case report detailing the management of a morbidly obese patient with postmenopausal bleeding and thickened endometrial stripe who had a very rare condition of pelvic organ duplication, including 2 hemiuteri, 2 vaginas, 2 hemibladders, and 2 each of ovaries, fallopian tubes, kidneys, and ureters. Laparoscopic hysterectomy was complicated by difficulties understanding urinary system anatomy requiring intraoperative urology consultation and imaging. CONCLUSIONS Management of patients with urogenital duplication and abnormal uterine bleeding requires a thorough understanding of possible associated malformations. Thorough preoperative evaluation, careful surgical exploration, and multidisciplinary approach may be necessary to avoid urologic injury in such patients. PMID:27180733

  5. The sequence and analysis of duplication rich human chromosome 16

    SciTech Connect

    Martin, J; Han, C; Gordon, L A; Terry, A; Prabhakar, S; She, X; Xie, G; Hellsten, U; Chan, Y M; Altherr, M; Couronne, O; Aerts, A; Bajorek, E; Black, S; Blumer, H; Branscomb, E; Brown, N; Bruno, W J; Buckingham, J; Callen, D F; Campbell, C S; Campbell, M L; Campbell, E W; Caoile, C; Challacombe, J F; Chasteen, L A; Chertkov, O; Chi, H C; Christensen, M; Clark, L M; Cohn, J D; Denys, M; Detter, J C; Dickson, M; Dimitrijevic-Bussod, M; Escobar, J; Fawcett, J J; Flowers, D; Fotopulos, D; Glavina, T; Gomez, M; Gonzales, E; Goodstein, D; Goodwin, L A; Grady, D L; Grigoriev, I; Groza, M; Hammon, N; Hawkins, T; Haydu, L; Hildebrand, C E; Huang, W; Israni, S; Jett, J; Jewett, P B; Kadner, K; Kimball, H; Kobayashi, A; Krawczyk, M; Leyba, T; Longmire, J L; Lopez, F; Lou, Y; Lowry, S; Ludeman, T; Manohar, C F; Mark, G A; McMurray, K L; Meincke, L J; Morgan, J; Moyzis, R K; Mundt, M O; Munk, A C; Nandkeshwar, R D; Pitluck, S; Pollard, M; Predki, P; Parson-Quintana, B; Ramirez, L; Rash, S; Retterer, J; Ricke, D O; Robinson, D; Rodriguez, A; Salamov, A; Saunders, E H; Scott, D; Shough, T; Stallings, R L; Stalvey, M; Sutherland, R D; Tapia, R; Tesmer, J G; Thayer, N; Thompson, L S; Tice, H; Torney, D C; Tran-Gyamfi, M; Tsai, M; Ulanovsky, L E; Ustaszewska, A; Vo, N; White, P S; Williams, A L; Wills, P L; Wu, J; Wu, K; Yang, J; DeJong, P; Bruce, D; Doggett, N A; Deaven, L; Schmutz, J; Grimwood, J; Richardson, P; Rokhsar, D S; Eichler, E E; Gilna, P; Lucas, S M; Myers, R M; Rubin, E M; Pennacchio, L A

    2005-04-06

    Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,637 aligned transcripts, 19 tRNA genes, 341 pseudogenes, and 3 RNA pseudogenes. These genes include metallothionein, cadherin, and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. While the segmental duplications of chromosome 16 are enriched in the relatively gene poor pericentromere of the p-arm, some are involved in recent gene duplication and conversion events likely to have had an impact on the evolution of primates and human disease susceptibility.

  6. The sequence and analysis of duplication rich human chromosome 16

    SciTech Connect

    Martin, Joel; Han, Cliff; Gordon, Laurie A.; Terry, Astrid; Prabhakar, Shyam; She, Xinwei; Xie, Gary; Hellsten, Uffe; Man Chan, Yee; Altherr, Michael; Couronne, Olivier; Aerts, Andrea; Bajorek, Eva; Black, Stacey; Blumer, Heather; Branscomb, Elbert; Brown, Nancy C.; Bruno, William J.; Buckingham, Judith M.; Callen, David F.; Campbell, Connie S.; Campbell, Mary L.; Campbell, Evelyn W.; Caoile, Chenier; Challacombe, Jean F.; Chasteen, Leslie A.; Chertkov, Olga; Chi, Han C.; Christensen, Mari; Clark, Lynn M.; Cohn, Judith D.; Denys, Mirian; Detter, John C.; Dickson, Mark; Dimitrijevic-Bussod, Mira; Escobar, Julio; Fawcett, Joseph J.; Flowers, Dave; Fotopulos, Dea; Glavina, Tijana; Gomez, Maria; Gonzales, Eidelyn; Goodstein, David; Goodwin, Lynne A.; Grady, Deborah L.; Grigoriev, Igor; Groza, Matthew; Hammon, Nancy; Hawkins, Trevor; Haydu, Lauren; Hildebrand, Carl E.; Huang, Wayne; Israni, Sanjay; Jett, Jamie; Jewett, Phillip E.; Kadner, Kristen; Kimball, Heather; Kobayashi, Arthur; Krawczyk, Marie-Claude; Leyba, Tina; Longmire, Jonathan L.; Lopez, Frederick; Lou, Yunian; Lowry, Steve; Ludeman, Thom; Mark, Graham A.; Mcmurray, Kimberly L.; Meincke, Linda J.; Morgan, Jenna; Moyzis, Robert K.; Mundt, Mark O.; Munk, A. Christine; Nandkeshwar, Richard D.; Pitluck, Sam; Pollard, Martin; Predki, Paul; Parson-Quintana, Beverly; Ramirez, Lucia; Rash, Sam; Retterer, James; Ricke, Darryl O.; Robinson, Donna L.; Rodriguez, Alex; Salamov, Asaf; Saunders, Elizabeth H.; Scott, Duncan; Shough, Timothy; Stallings, Raymond L.; Stalvey, Malinda; Sutherland, Robert D.; Tapia, Roxanne; Tesmer, Judith G.; Thayer, Nina; Thompson, Linda S.; Tice, Hope; Torney, David C.; Tran-Gyamfi, Mary; Tsai, Ming; Ulanovsky, Levy E.; Ustaszewska, Anna; Vo, Nu; White, P. Scott; Williams, Albert L.; Wills, Patricia L.; Wu, Jung-Rung; Wu, Kevin; Yang, Joan; DeJong, Pieter; Bruce, David; Doggett, Norman; Deaven, Larry; Schmutz, Jeremy; Grimwood, Jane; Richardson, Paul; et al.

    2004-08-01

    We report here the 78,884,754 base pairs of finished human chromosome 16 sequence, representing over 99.9 percent of its euchromatin. Manual annotation revealed 880 protein coding genes confirmed by 1,637 aligned transcripts, 19 tRNA genes, 341 pseudogenes and 3 RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukemia. Several large-scale structural polymorphisms spanning hundreds of kilobasepairs were identified and result in gene content differences across humans. One of the unique features of chromosome 16 is its high level of segmental duplication, ranked among the highest of the human autosomes. While the segmental duplications are enriched in the relatively gene poor pericentromere of the p-arm, some are involved in recent gene duplication and conversion events which are likely to have had an impact on the evolution of primates and human disease susceptibility.

  7. Duplication of the vermiform appendix in an adult patient

    PubMed Central

    2014-01-01

    Duplication of the appendix is extremely rare. A 69-year-old woman was admitted with a 2-day history of right lower quadrant abdominal pain. Physical examination was consistent with acute appendicitis. Ultrasonography and colonoscopy gave a clinical impression of an inflammatory appendiceal mucocoele. Operative findings were an enlarged and inflamed appendix with distal cystic changes. Laparoscopic wedge resection of the caecum was performed. A tubular structure with a true lumen was found in the appendix. Haematoxylin and eosin staining and trichrome staining showed both structures had a true mucosa and a muscular layer. The duplication in this case does not belong to any of the previously described types of duplication. PMID:24992405

  8. The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries

    PubMed Central

    Nigg, Erich A.; Stearns, Tim

    2013-01-01

    Centrosomes are microtubule-organizing centres of animal cells. They influence the morphology of the microtubule cytoskeleton, function as the base for the primary cilium and serve as a nexus for important signalling pathways. At the core of a typical centrosome are two cylindrical microtubule-based structures termed centrioles, which recruit a matrix of associated pericentriolar material. Cells begin the cell cycle with exactly one centrosome, and the duplication of centrioles is constrained such that it occurs only once per cell cycle and at a specific site in the cell. As a result of this duplication mechanism, the two centrioles differ in age and maturity, and thus have different functions; for example, the older of the two centrioles can initiate the formation of a ciliary axoneme. We discuss spatial aspects of the centrosome duplication cycle, the mechanism of centriole assembly and the possible consequences of the inherent asymmetry of centrioles and centrosomes. PMID:21968988

  9. The Sequence and Analysis of Duplication Rich Human Chromosome 16

    DOE R&D Accomplishments Database

    Martin, Joel; Han, Cliff; Gordon, Laurie A.; Terry, Astrid; Prabhakar, Shyam; She, Xinwei; Xie, Gary; Hellsten, Uffe; Man Chan, Yee; Altherr, Michael; Couronne, Olivier; Aerts, Andrea; Bajorek, Eva; Black, Stacey; Blumer, Heather; Branscomb, Elbert; Brown, Nancy C.; Bruno, William J.; Buckingham, Judith M.; Callen, David F.; Campbell, Connie S.; Campbell, Mary L.; Campbell, Evelyn W.; Caoile, Chenier; Challacombe, Jean F.; Chasteen, Leslie A.; Chertkov, Olga; Chi, Han C.; Christensen, Mari; Clark, Lynn M.; Cohn, Judith D.; Denys, Mirian; Detter, John C.; Dickson, Mark; Dimitrijevic-Bussod, Mira; Escobar, Julio; Fawcett, Joseph J.; Flowers, Dave; Fotopulos, Dea; Glavina, Tijana; Gomez, Maria; Gonzales, Eidelyn; Goodstein, David; Goodwin, Lynne A.; Grady, Deborah L.; Grigoriev, Igor; Groza, Matthew; Hammon, Nancy; Hawkins, Trevor; Haydu, Lauren; Hildebrand, Carl E.; Huang, Wayne; Israni, Sanjay; Jett, Jamie; Jewett, Phillip E.; Kadner, Kristen; Kimball, Heather; Kobayashi, Arthur; Krawczyk, Marie-Claude; Leyba, Tina; Longmire, Jonathan L.; Lopez, Frederick; Lou, Yunian; Lowry, Steve; Ludeman, Thom; Mark, Graham A.; Mcmurray, Kimberly L.; Meincke, Linda J.; Morgan, Jenna; Moyzis, Robert K.; Mundt, Mark O.; Munk, A. Christine; Nandkeshwar, Richard D.; Pitluck, Sam; Pollard, Martin; Predki, Paul; Parson-Quintana, Beverly; Ramirez, Lucia; Rash, Sam; Retterer, James; Ricke, Darryl O.; Robinson, Donna L.; Rodriguez, Alex; Salamov, Asaf; Saunders, Elizabeth H.; Scott, Duncan; Shough, Timothy; Stallings, Raymond L.; Stalvey, Malinda; Sutherland, Robert D.; Tapia, Roxanne; Tesmer, Judith G.; Thayer, Nina; Thompson, Linda S.; Tice, Hope; Torney, David C.; Tran-Gyamfi, Mary; Tsai, Ming; Ulanovsky, Levy E.; Ustaszewska, Anna; Vo, Nu; White, P. Scott; Williams, Albert L.; Wills, Patricia L.; Wu, Jung-Rung; Wu, Kevin; Yang, Joan; DeJong, Pieter; Bruce, David; Doggett, Norman; Deaven, Larry; Schmutz, Jeremy; Grimwood, Jane; Richardson, Paul; et al.

    2004-01-01

    We report here the 78,884,754 base pairs of finished human chromosome 16 sequence, representing over 99.9 percent of its euchromatin. Manual annotation revealed 880 protein coding genes confirmed by 1,637 aligned transcripts, 19 tRNA genes, 341 pseudogenes and 3 RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukemia. Several large-scale structural polymorphisms spanning hundreds of kilobasepairs were identified and result in gene content differences across humans. One of the unique features of chromosome 16 is its high level of segmental duplication, ranked among the highest of the human autosomes. While the segmental duplications are enriched in the relatively gene poor pericentromere of the p-arm, some are involved in recent gene duplication and conversion events which are likely to have had an impact on the evolution of primates and human disease susceptibility.

  10. Content-based network model with duplication and divergence

    NASA Astrophysics Data System (ADS)

    Şengün, Yasemin; Erzan, Ayşe

    2006-06-01

    We construct a minimal content-based realization of the duplication and divergence model of genomic networks introduced by Wagner [Proc. Natl. Acad. Sci. 91 (1994) 4387] and investigate the scaling properties of the directed degree distribution and clustering coefficient. We find that the content-based network exhibits crossover between two scaling regimes, with log-periodic oscillations for large degrees. These features are not present in the original gene duplication model, but inherent in the content-based model of Balcan and Erzan. The scaling form of the degree distribution of the content-based model turns out to be robust under duplication and divergence, with some re-adjustment of the scaling exponents, while the out-clustering coefficient goes over from a weak power-law dependence on the degree, to an exponential decay under mutations which include splitting and merging of strings.

  11. Duplicate Medical Records: A Survey of Twin Cities Healthcare Organizations

    PubMed Central

    McClellan, Molly A.

    2009-01-01

    Duplicate medical records occur when a single patient is associated with more than one medical record number. This causes a dangerous and expensive issue for hospitals and health information technology. A survey was constructed to gather qualitative information from Twin Cities healthcare organizations. The goal was to determine baseline information regarding the recognition of the problems surrounding duplicate medical record creation and organizational strategies for resolutions. The survey demonstrated that all organizations acknowledged the importance and patient safety issue regarding the creation of duplicates but the strategies and solutions are varied. As defined in the Minnesota Alliance for Patient Safety5, the ultimate goal of this survey was to favorably impact patient safety. The deidentified results were disseminated to all participating organizations along with recommendations for system improvements in order to raise awareness of the issue and promote patient safety. PMID:20351892

  12. [Urethral duplication in pediatric age. A case report].

    PubMed

    Abbate, B; Centonze, N; Danti, D A

    2002-01-01

    Urethral duplication is a rare congenital anomaly, resulting from a wide range of malformations of the urogenital sinus. Generally, the duplication develops on the sagittal plane; the accessory urethra may run dorsally or ventrally to the orthotopic one. The duplication is defined as epispadic in the first case, and hypospadic in the second. In the medical literature approximately 150 cases have been reported. Relatively more frequent among males, it is often associated with other malformations of the urogenital tract or other organs. The authors present a case of a 4 year old child with a complete epispadic duplication, that is, two external meatus, one of which the dorsal aspect of the glans, and the other orthotopic. Clinically, duplication and weakening of the stream, urinary incontinence and UTI were present. US examination documented the normality of the upper urinary tract and of the bladder. Retrograde urethrocystography showed a completely permeable urethral duplication, with two external meatus. The excision of the accessory urethra was carried out together with the reconstruction of the hypospadic meatus with an "overlap anastomosis". The post-operatory period was uneventful, and one year after surgery the patient is asymptomatic, with normal uroflowmetric readings and echographically documented complete bladder emptying. In the opinion of the authors, the treatment is indicated in symptomatic forms and the surgical options varies, depending on the type and grade of malformation, its clinical manifestations and the presence of associated anomalies. Antibiotic treatment is not effective and other treatments, such as diathermocoagulation or the injection of caustic substances into the accessory duct have been abandoned. PMID:12494542

  13. The Genomes of Oryza sativa: a history of duplications.

    PubMed

    Yu, Jun; Wang, Jun; Lin, Wei; Li, Songgang; Li, Heng; Zhou, Jun; Ni, Peixiang; Dong, Wei; Hu, Songnian; Zeng, Changqing; Zhang, Jianguo; Zhang, Yong; Li, Ruiqiang; Xu, Zuyuan; Li, Shengting; Li, Xianran; Zheng, Hongkun; Cong, Lijuan; Lin, Liang; Yin, Jianning; Geng, Jianing; Li, Guangyuan; Shi, Jianping; Liu, Juan; Lv, Hong; Li, Jun; Wang, Jing; Deng, Yajun; Ran, Longhua; Shi, Xiaoli; Wang, Xiyin; Wu, Qingfa; Li, Changfeng; Ren, Xiaoyu; Wang, Jingqiang; Wang, Xiaoling; Li, Dawei; Liu, Dongyuan; Zhang, Xiaowei; Ji, Zhendong; Zhao, Wenming; Sun, Yongqiao; Zhang, Zhenpeng; Bao, Jingyue; Han, Yujun; Dong, Lingli; Ji, Jia; Chen, Peng; Wu, Shuming; Liu, Jinsong; Xiao, Ying; Bu, Dongbo; Tan, Jianlong; Yang, Li; Ye, Chen; Zhang, Jingfen; Xu, Jingyi; Zhou, Yan; Yu, Yingpu; Zhang, Bing; Zhuang, Shulin; Wei, Haibin; Liu, Bin; Lei, Meng; Yu, Hong; Li, Yuanzhe; Xu, Hao; Wei, Shulin; He, Ximiao; Fang, Lijun; Zhang, Zengjin; Zhang, Yunze; Huang, Xiangang; Su, Zhixi; Tong, Wei; Li, Jinhong; Tong, Zongzhong; Li, Shuangli; Ye, Jia; Wang, Lishun; Fang, Lin; Lei, Tingting; Chen, Chen; Chen, Huan; Xu, Zhao; Li, Haihong; Huang, Haiyan; Zhang, Feng; Xu, Huayong; Li, Na; Zhao, Caifeng; Li, Shuting; Dong, Lijun; Huang, Yanqing; Li, Long; Xi, Yan; Qi, Qiuhui; Li, Wenjie; Zhang, Bo; Hu, Wei; Zhang, Yanling; Tian, Xiangjun; Jiao, Yongzhi; Liang, Xiaohu; Jin, Jiao; Gao, Lei; Zheng, Weimou; Hao, Bailin; Liu, Siqi; Wang, Wen; Yuan, Longping; Cao, Mengliang; McDermott, Jason; Samudrala, Ram; Wang, Jian; Wong, Gane Ka-Shu; Yang, Huanming

    2005-02-01

    We report improved whole-genome shotgun sequences for the genomes of indica and japonica rice, both with multimegabase contiguity, or almost 1,000-fold improvement over the drafts of 2002. Tested against a nonredundant collection of 19,079 full-length cDNAs, 97.7% of the genes are aligned, without fragmentation, to the mapped super-scaffolds of one or the other genome. We introduce a gene identification procedure for plants that does not rely on similarity to known genes to remove erroneous predictions resulting from transposable elements. Using the available EST data to adjust for residual errors in the predictions, the estimated gene count is at least 38,000-40,000. Only 2%-3% of the genes are unique to any one subspecies, comparable to the amount of sequence that might still be missing. Despite this lack of variation in gene content, there is enormous variation in the intergenic regions. At least a quarter of the two sequences could not be aligned, and where they could be aligned, single nucleotide polymorphism (SNP) rates varied from as little as 3.0 SNP/kb in the coding regions to 27.6 SNP/kb in the transposable elements. A more inclusive new approach for analyzing duplication history is introduced here. It reveals an ancient whole-genome duplication, a recent segmental duplication on Chromosomes 11 and 12, and massive ongoing individual gene duplications. We find 18 distinct pairs of duplicated segments that cover 65.7% of the genome; 17 of these pairs date back to a common time before the divergence of the grasses. More important, ongoing individual gene duplications provide a never-ending source of raw material for gene genesis and are major contributors to the differences between members of the grass family. PMID:15685292

  14. Duplicated extrahepatic bile duct identified following cholecystectomy injury

    PubMed Central

    Hoepfner, Lauren; Sweeney, Mary Katherine; White, Jared A.

    2016-01-01

    Though variations of intrahepatic biliary anatomy are quite common, duplication of the extrahepatic biliary system is extremely rare and reported infrequently in the literature. Laparoscopic cholecystectomy is one of the most common general surgery procedures performed. Unfortunately, iatrogenic bile duct injuries can contribute to significant morbidity including hospital readmissions, infectious complications and death. Anomalous extrahepatic biliary anatomy may be one of the factors, which increases the likelihood of bile duct injury during laparoscopic cholecystectomy. We present a case of an iatrogenic bile duct injury that occurred during a laparoscopic cholecystectomy, in which a duplicated extrahepatic biliary system was identified intraoperatively during the definitive operative repair. PMID:27141049

  15. Functional divergence of gene duplicates through ectopic recombination

    PubMed Central

    Christiaens, Joaquin F; Van Mulders, Sebastiaan E; Duitama, Jorge; Brown, Chris A; Ghequire, Maarten G; De Meester, Luc; Michiels, Jan; Wenseleers, Tom; Voordeckers, Karin; Verstrepen, Kevin J

    2012-01-01

    Gene duplication stimulates evolutionary innovation as the resulting paralogs acquire mutations that lead to sub- or neofunctionalization. A comprehensive in silico analysis of paralogs in Saccharomyces cerevisiae reveals that duplicates of cell-surface and subtelomeric genes also undergo ectopic recombination, which leads to new chimaeric alleles. Mimicking such intergenic recombination events in the FLO (flocculation) family of cell-surface genes shows that chimaeric FLO alleles confer different adhesion phenotypes than the parental genes. Our results indicate that intergenic recombination between paralogs can generate a large set of new alleles, thereby providing the raw material for evolutionary adaptation and innovation. PMID:23070367

  16. Urethral duplication with unusual cause of bladder outlet obstruction

    PubMed Central

    Venkatramani, Vivek; George, Arun Jacob Philip; Chandrasingh, J.; Panda, Arabind; Devasia, Antony

    2016-01-01

    A 12-year-old boy presented with poor flow and recurrent urinary tract infections following hypospadias repair at the age of 3 years. The evaluation revealed urethral duplication with a hypoplastic dorsal urethra and patent ventral urethra. He also had duplication of the bladder neck, and on voiding cystourethrogram the ventral bladder neck appeared hypoplastic and compressed by the dorsal bladder neck during voiding. The possibility of functional obstruction of the ventral urethra by the occluded dorsal urethra was suspected, and he underwent a successful urethro-urethrostomy. PMID:27127361

  17. Recombination facilitates neofunctionalization of duplicate genes via originalization

    PubMed Central

    2010-01-01

    Background Recently originalization was proposed to be an effective way of duplicate-gene preservation, in which recombination provokes the high frequency of original (or wild-type) allele on both duplicated loci. Because the high frequency of wild-type allele might drive the arising and accumulating of advantageous mutation, it is hypothesized that recombination might enlarge the probability of neofunctionalization (Pneo) of duplicate genes. In this article this hypothesis has been tested theoretically. Results Results show that through originalization recombination might not only shorten mean time to neofunctionalizaiton, but also enlarge Pneo. Conclusions Therefore, recombination might facilitate neofunctionalization via originalization. Several extensive applications of these results on genomic evolution have been discussed: 1. Time to nonfunctionalization can be much longer than a few million generations expected before; 2. Homogenization on duplicated loci results from not only gene conversion, but also originalization; 3. Although the rate of advantageous mutation is much small compared with that of degenerative mutation, Pneo cannot be expected to be small. PMID:20534125

  18. 7 CFR 27.41 - Lost certificate; duplicate.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Cotton Class Certificates § 27.41 Lost certificate; duplicate. Upon the written request of the last holder of a valid cotton class... cotton and without a new Micronaire determination for the cotton. Such new certificate shall bear...

  19. 7 CFR 27.41 - Lost certificate; duplicate.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Cotton Class Certificates § 27.41 Lost certificate; duplicate. Upon the written request of the last holder of a valid cotton class... cotton and without a new Micronaire determination for the cotton. Such new certificate shall bear...

  20. 7 CFR 27.41 - Lost certificate; duplicate.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Cotton Class Certificates § 27.41 Lost certificate; duplicate. Upon the written request of the last holder of a valid cotton class... cotton and without a new Micronaire determination for the cotton. Such new certificate shall bear...

  1. 47 CFR 76.1508 - Network non-duplication.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Open Video Systems § 76.1508 Network non-duplication. (a) Sections 76.92 through 76.97 shall apply to open video systems in accordance with the provisions contained... unit” shall apply to an open video system or that portion of an open video system that operates or...

  2. 47 CFR 76.1508 - Network non-duplication.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Open Video Systems § 76.1508 Network non-duplication. (a) Sections 76.92 through 76.97 shall apply to open video systems in accordance with the provisions contained... unit” shall apply to an open video system or that portion of an open video system that operates or...

  3. 47 CFR 76.1508 - Network non-duplication.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Open Video Systems § 76.1508 Network non-duplication. (a) Sections 76.92 through 76.97 shall apply to open video systems in accordance with the provisions contained... unit” shall apply to an open video system or that portion of an open video system that operates or...

  4. Challenging Case of Postmenopausal Bleeding and Complete Urogenital Duplication

    PubMed Central

    Grechukhina, Olga; English, Diana P.; Miller, Devin; Ratner, Elena

    2016-01-01

    Patient: Female, 58 Final Diagnosis: Congenital duplication of genitourinary system Symptoms: — Medication: — Clinical Procedure: Laparoscopic hysterectomy Specialty: Obstetrics and Gynecology Objective: Congenital defects/diseases Background: Müllerian duct anomalies represent a wide spectrum of congenital abnormalities ranging from simple uterine anomalies to more complex multisystem derangements. Complete duplication of uterus, cervix, and vagina may be associated with urologic and caudal gastrointestinal malformations. Case Report: We present a case report detailing the management of a morbidly obese patient with postmenopausal bleeding and thickened endometrial stripe who had a very rare condition of pelvic organ duplication, including 2 hemiuteri, 2 vaginas, 2 hemibladders, and 2 each of ovaries, fallopian tubes, kidneys, and ureters. Laparoscopic hysterectomy was complicated by difficulties understanding urinary system anatomy requiring intraoperative urology consultation and imaging. Conclusions: Management of patients with urogenital duplication and abnormal uterine bleeding requires a thorough understanding of possible associated malformations. Thorough preoperative evaluation, careful surgical exploration, and multidisciplinary approach may be necessary to avoid urologic injury in such patients. PMID:27180733

  5. Genetics Home Reference: 7q11.23 duplication syndrome

    MedlinePlus

    ... syndrome dup(7)(q11.23) Somerville-Van der Aa syndrome trisomy 7q11.23 WBS duplication syndrome Williams- ... or Free article on PubMed Central Van der Aa N, Rooms L, Vandeweyer G, van den Ende ...

  6. 42 CFR 495.208 - Avoiding duplicate payment.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... PROGRAM Requirements Specific to Medicare Advantage (MA) Organizations § 495.208 Avoiding duplicate payment. (a) Unless a qualifying MA EP is entitled to a maximum payment for a year under the Medicare FFS EHR incentive program, payment for such an individual is only made under the MA EHR incentive...

  7. 42 CFR 495.208 - Avoiding duplicate payment.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... PROGRAM Requirements Specific to Medicare Advantage (MA) Organizations § 495.208 Avoiding duplicate payment. (a) CMS requires a qualifying MA organization that registers MA EPs for the purpose of participating in the MA EHR Incentive Program to notify each of the MA EPs for which it is claiming an...

  8. 42 CFR 495.208 - Avoiding duplicate payment.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... PROGRAM Requirements Specific to Medicare Advantage (MA) Organizations § 495.208 Avoiding duplicate payment. (a) Unless a qualifying MA EP is entitled to a maximum payment for a year under the Medicare FFS EHR incentive program, payment for such an individual is only made under the MA EHR incentive...

  9. 42 CFR 495.208 - Avoiding duplicate payment.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... PROGRAM Requirements Specific to Medicare Advantage (MA) Organizations § 495.208 Avoiding duplicate payment. (a) CMS requires a qualifying MA organization that registers MA EPs for the purpose of participating in the MA EHR Incentive Program to notify each of the MA EPs for which it is claiming an...

  10. 24. Duplicate negative of an historic negative. 'AERIAL VIEW OF ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    24. Duplicate negative of an historic negative. 'AERIAL VIEW OF AREA 'B' HOLSTON ORDNANCE WORKS.' 1944. #OCMH 4-12.2ASAV3 in Super Explosives Program RDX and Its Composition A, B, & C, Record Group No. 319, National Archives, Washington, D.C. - Holston Army Ammunition Plant, RDX-and-Composition-B Manufacturing Line 9, Kingsport, Sullivan County, TN

  11. Jejunal duplication in an adult presenting with hematochezia.

    PubMed

    Inoue, Kazuhiko; Sakiyama, Toshio; Setoyama, Kanae; Iwashita, Yuji; Saito, Seiya; Hanada, Norihisa; Komohara, Yoshihiro; Sasaki, Fumisato; Numata, Masatsugu; Ido, Akio

    2016-01-01

    A 56-year-old man was admitted to our hospital with appetite loss, palpitations, orthostatic syncope, and hematochezia. Contrast-enhanced abdominal computed tomography (CT) revealed a proximal jejunal diverticulum with contrast extravasation. We immediately performed transoral double balloon enteroscopy (DBE) to treat the bleed in the jejunum, and this revealed a small ulcer with an exposed vessel at the opening of the jejunal diverticulum. Hemostasis was achieved endoscopically with argon plasma coagulation (APC) and hemoclips. During subsequent surgery, the diverticulum was found on the mesenteric side of the jejunum. We performed laparoscopy-assisted partial resection of the jejunum, and pathological examination showed that the diverticulum shared a common proper muscle layer with the jejunum and was covered by jejunal mucosa with no ectopic mucosa. Therefore, we diagnosed jejunal duplication. After hospital discharge, the patient had no recurrence of hematochezia or anemia. We report a rare case of jejunal duplication presenting with hematochezia, which was diagnosed as jejunal diverticular bleeding by CT and DBE before surgery. Pathological analysis confirmed jejunal duplication after surgery. We suggest that intestinal diverticular bleeding, as well as duplication of the gastrointestinal tract, should be considered as part of the differential diagnosis of obscure gastrointestinal bleeding. PMID:27052396

  12. Prenatal sonographic diagnosis of duplicated middle cerebral artery.

    PubMed

    Ventura, Walter; Nazario, Conny; Ingar, Jaime; Huertas, Erasmo; Limay, Antonio; Castillo, Walter

    2010-01-01

    We report a fetus scanned by color Doppler ultrasound at 37 weeks for suspicion of growth restriction with an extremely rare variation of duplicated middle cerebral artery. Three-dimensional color power Doppler and tomographic ultrasound imaging enhanced our incidental finding. PMID:20523030

  13. A salmonid EST genomic study: genes, duplications, phylogeny and microarrays

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Background: Salmonids are of interest because of their relatively recent genome duplication, and their extensive use in wild fisheries and aquaculture. A comprehensive gene list and a comparison of genes in some of the different species provide valuable genomic information for one of the most wide...

  14. Recurrent duplications of 17q12 associated with variable phenotypes.

    PubMed

    Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne; Callewaert, Bert; Vanlander, Arnaud; Janssens, Sandra; Yuen, Amy Lawson; Skinner, Cindy; Failla, Pinella; Alberti, Antonino; Avola, Emanuela; Fichera, Marco; Kibaek, Maria; Digilio, Maria C; Hannibal, Mark C; den Hollander, Nicolette S; Bizzarri, Veronica; Renieri, Alessandra; Mencarelli, Maria Antonietta; Fitzgerald, Tomas; Piazzolla, Serena; van Oudenhove, Elke; Romano, Corrado; Schwartz, Charles; Eichler, Evan E; Slavotinek, Anne; Escobar, Luis; Rajan, Diana; Crolla, John; Carter, Nigel; Hodge, Jennelle C; Mefford, Heather C

    2015-12-01

    The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi-institutional collaborative effort. The majority of patients presented with developmental delays varying from mild to severe. Though dysmorphic features were commonly reported, patients do not have consistent and recognizable features. Cardiac, ophthalmologic, growth, behavioral, and other abnormalities were each present in a subset of patients. The newly associated features potentially resulting from 17q12 duplication include height and weight above the 95th percentile, cataracts, microphthalmia, coloboma, astigmatism, tracheomalacia, cutaneous mosaicism, pectus excavatum, scoliosis, hypermobility, hypospadias, diverticulum of Kommerell, pyloric stenosis, and pseudohypoparathryoidism. The majority of duplications were inherited with some carrier parents reporting learning disabilities or microcephaly. We identified additional, potentially contributory copy number changes in a subset of patients, including one patient each with 16p11.2 deletion and 15q13.3 deletion. Our data further define and expand the clinical spectrum associated with duplications of 17q12 and provide support for the role of genomic modifiers contributing to phenotypic variability. PMID:26420380

  15. Obscure bleeding colonic duplication responds to proton pump inhibitor therapy.

    PubMed

    Jacques, Jérémie; Projetti, Fabrice; Legros, Romain; Valgueblasse, Virginie; Sarabi, Matthieu; Carrier, Paul; Fredon, Fabien; Bouvier, Stéphane; Loustaud-Ratti, Véronique; Sautereau, Denis

    2013-09-21

    We report the case of a 17-year-old male admitted to our academic hospital with massive rectal bleeding. Since childhood he had reported recurrent gastrointestinal bleeding and had two exploratory laparotomies 5 and 2 years previously. An emergency abdominal computed tomography scan, gastroscopy and colonoscopy, performed after hemodynamic stabilization, were considered normal. High-dose intravenous proton pump inhibitor (PPI) therapy was initiated and bleeding stopped spontaneously. Two other massive rectal bleeds occurred 8 h after each cessation of PPI which led to a hemostatic laparotomy after negative gastroscopy and small bowel capsule endoscopy. This showed long tubular duplication of the right colon, with fresh blood in the duplicated colon. Obscure lower gastrointestinal bleeding is a difficult medical situation and potentially life-threatening. The presence of ulcerated ectopic gastric mucosa in the colonic duplication explains the partial efficacy of PPI therapy. Obscure gastrointestinal bleeding responding to empiric anti-acid therapy should probably evoke the diagnosis of bleeding ectopic gastric mucosa such as Meckel's diverticulum or gastrointestinal duplication, and gastroenterologists should be aware of this potential medical situation. PMID:24124344

  16. Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene.

    PubMed

    Fernandes, Gustavo; Souto, Mirela; Costa, Frederico; Oliveira, Edite; Garicochea, Bernardo

    2014-01-01

    Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin. The frequent genetic alterations that modify neurofibromin function are deletions and insertions. Duplications are rare and phenotype in patients bearing duplication of NF1 gene is thought to be restricted to developmental abnormalities, with no reference to cancer susceptibility in these patients. We evaluated a patient who presented with few clinical signs of neurofibromatosis type 1 and a conspicuous personal and familiar history of different types of cancer, especially lymphoproliferative malignancies. The coding region of the NF-1 gene was analyzed by real-time polymerase chain reaction and direct sequencing. Multiplex ligation-dependent probe amplification was performed to detect the number of mutant copies. The NF1 gene analysis showed the following alterations: mosaic duplication of NF1, TRAF4, and MYO1D. Fluorescence in situ hybridization using probes (RP5-1002G3 and RP5-92689) flanking NF1 gene in 17q11.2 and CEP17 for 17q11.11.1 was performed. There were three signals (RP5-1002G3conRP5-92689) in the interphases analyzed and two signals (RP5-1002G3conRP5-92689) in 93% of cells. These findings show a tandem duplication of 17q11.2. Conclusion. The case suggests the possibility that NF1 gene duplication may be associated with a phenotype characterized by lymphoproliferative disorders. PMID:25580325

  17. Signals of historical interlocus gene conversion in human segmental duplications.

    PubMed

    Dumont, Beth L; Eichler, Evan E

    2013-01-01

    Standard methods of DNA sequence analysis assume that sequences evolve independently, yet this assumption may not be appropriate for segmental duplications that exchange variants via interlocus gene conversion (IGC). Here, we use high quality multiple sequence alignments from well-annotated segmental duplications to systematically identify IGC signals in the human reference genome. Our analysis combines two complementary methods: (i) a paralog quartet method that uses DNA sequence simulations to identify a statistical excess of sites consistent with inter-paralog exchange, and (ii) the alignment-based method implemented in the GENECONV program. One-quarter (25.4%) of the paralog families in our analysis harbor clear IGC signals by the quartet approach. Using GENECONV, we identify 1477 gene conversion tracks that cumulatively span 1.54 Mb of the genome. Our analyses confirm the previously reported high rates of IGC in subtelomeric regions and Y-chromosome palindromes, and identify multiple novel IGC hotspots, including the pregnancy specific glycoproteins and the neuroblastoma breakpoint gene families. Although the duplication history of a paralog family is described by a single tree, we show that IGC has introduced incredible site-to-site variation in the evolutionary relationships among paralogs in the human genome. Our findings indicate that IGC has left significant footprints in patterns of sequence diversity across segmental duplications in the human genome, out-pacing the contributions of single base mutation by orders of magnitude. Collectively, the IGC signals we report comprise a catalog that will provide a critical reference for interpreting observed patterns of DNA sequence variation across duplicated genomic regions, including targets of recent adaptive evolution in humans. PMID:24124524

  18. A large duplication involving the IHH locus mimics acrocallosal syndrome

    PubMed Central

    Yuksel-Apak, Memnune; Bögershausen, Nina; Pawlik, Barbara; Li, Yun; Apak, Selcuk; Uyguner, Oya; Milz, Esther; Nürnberg, Gudrun; Karaman, Birsen; Gülgören, Ayan; Grzeschik, Karl-Heinz; Nürnberg, Peter; Kayserili, Hülya; Wollnik, Bernd

    2012-01-01

    Indian hedgehog (Ihh) signaling is a major determinant of various processes during embryonic development and has a pivotal role in embryonic skeletal development. A specific spatial and temporal expression of Ihh within the developing limb buds is essential for accurate digit outgrowth and correct digit number. Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the IHH locus have recently been described in patients with mild syndactyly and craniosynostosis. In contrast, a ∼600-kb deletion 5′ of IHH in the doublefoot mouse mutant (Dbf) leads to severe polydactyly without craniosynostosis, but with craniofacial dysmorphism. We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay. Single-nucleotide polymorphism (SNP) array copy number analysis identified a ∼900-kb duplication of the IHH locus, which was confirmed by an independent quantitative method. A fetus from a second pregnancy of the mother by a different spouse showed similar craniofacial and limb malformations and the same duplication of the IHH-locus. We defined the exact breakpoints and showed that the duplications are identical tandem duplications in both sibs. No copy number changes were observed in the healthy mother. To our knowledge, this is the first report of a human phenotype similar to the Dbf mutant and strikingly overlapping with ACS that is caused by a copy number variation involving the IHH locus on chromosome 2q35. PMID:22234151

  19. Whole-genome duplications followed by tandem duplications drive diversification of the protein modifier SUMO in Angiosperms.

    PubMed

    Hammoudi, Valentin; Vlachakis, Georgios; Schranz, M Eric; van den Burg, Harrold A

    2016-07-01

    The ubiquitin-like modifier (UBL) SUMO (Small Ubiquitin-Like Modifier) regulates protein function. Structural rather than sequence homology typifies UBL families. However, individual UBL types, such as SUMO, show remarkable sequence conservation. Selection pressure also operates at the SUMO gene copy number, as increased SUMO levels activate immunity and alter flowering time in Arabidopsis. We show how, despite this selection pressure, the SUMO family has diversified into eight paralogues in Arabidopsis. Relationships between the paralogues were investigated using genome collinearity and gene tree analysis. We show that palaeopolyploidy followed by tandem duplications allowed expansion and then diversification of the SUMO genes. For example, Arabidopsis SUMO5 evolved from the pan-eudicot palaeohexaploidy event (gamma), which yielded three SUMO copies. Two gamma copies were preserved as archetype SUMOs, suggesting subfunctionalization, whereas the third copy served as a hotspot for SUMO diversification. The Brassicaceae-specific alpha duplication then caused the duplication of one archetype gamma copy, which, by subfunctionalization, allowed the retention of both SUMO1 and SUMO2. The other archetype gamma copy was simultaneously pseudogenized (SUMO4/6). A tandem duplication of SUMO2 subsequently yielded SUMO3 in the Brassicaceae crown group. SUMO3 potentially neofunctionalized in Arabidopsis, but it is lost in many Brassicaceae. Our advanced methodology allows the study of the birth and fixation of other paralogues in plants. PMID:26934536

  20. Low complexity data duplication with selective slice dropping for reliable video communication

    NASA Astrophysics Data System (ADS)

    Nazir, Sajid; Vukobratovic, Dejan; Fairhurst, Gorry

    2015-03-01

    Video quality can be improved by selective duplication of the important video data. This paper proposes a simple and novel scheme to exploit the space occupancy of bi-directionally predicted slices for duplication of selected information in order to improve the video quality. The idea of data duplication is not new, however the selection of the data for duplication and its placement within the transmitted data can have profound effects on performance. The novelty of the proposed schemes is that the duplicated data does not bring additional payload. It is shown that sufficient space exists within video data to accommodate duplication of important data without increasing overall size of video data. The amount of duplicated data can also be tailored to suit specific transmission scenario. The results show significant gains in video quality with the proposed duplication schemes.

  1. Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals.

    PubMed

    Lan, Xun; Pritchard, Jonathan K

    2016-05-20

    Gene duplication is a fundamental process in genome evolution. However, most young duplicates are degraded by loss-of-function mutations, and the factors that allow some duplicate pairs to survive long-term remain controversial. One class of models to explain duplicate retention invokes sub- or neofunctionalization, whereas others focus on sharing of gene dosage. RNA-sequencing data from 46 human and 26 mouse tissues indicate that subfunctionalization of expression evolves slowly and is rare among duplicates that arose within the placental mammals, possibly because tandem duplicates are coregulated by shared genomic elements. Instead, consistent with the dosage-sharing hypothesis, most young duplicates are down-regulated to match expression levels of single-copy genes. Thus, dosage sharing of expression allows for the initial survival of mammalian duplicates, followed by slower functional adaptation enabling long-term preservation. PMID:27199432

  2. Structure and origin of a tandem duplication of a Drosophila metallothionein gene

    SciTech Connect

    Otto, E.; Maroni, G.

    1987-01-01

    A strain of cadmium-resistant Drosophila was isolated that contained a chromosomal duplication of the metallothionein gene, Mtn. This duplication was a direct, tandem repeat of 2.2 kilobases of DNA: 228 bases of 5' flanking DNA, the entire transcription unit, and 1.4 kilobases of 3' flanking DNA. The entire duplication was cloned and DNA sequences of the regions relevant to the duplication process were determined. Comparison of the sequences of the 5' and 3' boundaries revealed no extensive regions of similarity, thus indicating that this duplication was formed by nonhomologous breakage and reunion. Recently, results of similar analyses by other investigators have suggested that this process was involved in the origin of three other eukaryotic duplications. The authors have observed a chi-like sequence near one of the boundaries of each duplication, and therefore suggest that this sequence may be important in generating one of the breaks required for duplication formation.

  3. Efficient Algorithms for Analyzing Segmental Duplications, Deletions, and Inversions in Genomes

    NASA Astrophysics Data System (ADS)

    Kahn, Crystal L.; Mozes, Shay; Raphael, Benjamin J.

    Segmental duplications, or low-copy repeats, are common in mammalian genomes. In the human genome, most segmental duplications are mosaics consisting of pieces of multiple other segmental duplications. This complex genomic organization complicates analysis of the evolutionary history of these sequences. Earlier, we introduced a genomic distance, called duplication distance, that computes the most parsimonious way to build a target string by repeatedly copying substrings of a source string. We also showed how to use this distance to describe the formation of segmental duplications according to a two-step model that has been proposed to explain human segmental duplications. Here we describe polynomial-time exact algorithms for several extensions of duplication distance including models that allow certain types of substring deletions and inversions. These extensions will permit more biologically realistic analyses of segmental duplications in genomes.

  4. 7 CFR 27.23 - Duplicate sets of samples of cotton.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Duplicate sets of samples of cotton. 27.23 Section 27... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Inspection and Samples § 27.23 Duplicate sets of samples of cotton. The duplicate sets of samples shall be inclosed in wrappers...

  5. 7 CFR 27.23 - Duplicate sets of samples of cotton.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 2 2011-01-01 2011-01-01 false Duplicate sets of samples of cotton. 27.23 Section 27... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Inspection and Samples § 27.23 Duplicate sets of samples of cotton. The duplicate sets of samples shall be inclosed in wrappers...

  6. 7 CFR 27.23 - Duplicate sets of samples of cotton.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 7 Agriculture 2 2013-01-01 2013-01-01 false Duplicate sets of samples of cotton. 27.23 Section 27... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Inspection and Samples § 27.23 Duplicate sets of samples of cotton. The duplicate sets of samples shall be inclosed in wrappers...

  7. 7 CFR 27.23 - Duplicate sets of samples of cotton.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 7 Agriculture 2 2012-01-01 2012-01-01 false Duplicate sets of samples of cotton. 27.23 Section 27... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Inspection and Samples § 27.23 Duplicate sets of samples of cotton. The duplicate sets of samples shall be inclosed in wrappers...

  8. 7 CFR 27.23 - Duplicate sets of samples of cotton.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 7 Agriculture 2 2014-01-01 2014-01-01 false Duplicate sets of samples of cotton. 27.23 Section 27... REGULATIONS COTTON CLASSIFICATION UNDER COTTON FUTURES LEGISLATION Regulations Inspection and Samples § 27.23 Duplicate sets of samples of cotton. The duplicate sets of samples shall be inclosed in wrappers...

  9. Evidence for the fixation of gene duplications by positive selection in Drosophila.

    PubMed

    Cardoso-Moreira, Margarida; Arguello, J Roman; Gottipati, Srikanth; Harshman, L G; Grenier, Jennifer K; Clark, Andrew G

    2016-06-01

    Gene duplications play a key role in the emergence of novel traits and in adaptation. But despite their centrality to evolutionary processes, it is still largely unknown how new gene duplicates are initially fixed within populations and later maintained in genomes. Long-standing debates on the evolution of gene duplications could be settled by determining the relative importance of genetic drift vs. positive selection in the fixation of new gene duplicates. Using the Drosophila Global Diversity Lines (GDL), we have combined genome-wide SNP polymorphism data with a novel set of copy number variant calls and gene expression profiles to characterize the polymorphic phase of new genes. We found that approximately half of the roughly 500 new complete gene duplications segregating in the GDL lead to significant increases in the expression levels of the duplicated genes and that these duplications are more likely to be found at lower frequencies, suggesting a negative impact on fitness. However, we also found that six of the nine gene duplications that are fixed or close to fixation in at least one of the five populations in our study show signs of being under positive selection, and that these duplications are likely beneficial because of dosage effects, with a possible role for additional mutations in two duplications. Our work suggests that in Drosophila, theoretical models that posit that gene duplications are immediately beneficial and fixed by positive selection are most relevant to explain the long-term evolution of gene duplications in this species. PMID:27197209

  10. Design and Construction of a High-Speed Magnetic Tape Duplicator.

    ERIC Educational Resources Information Center

    Hoskin, Richard K.

    Engineering procedures used in the design and construction of a high-speed, multichannel magnetic tape duplicator are described. The completed duplicator, a common mandrel duplicator, in which a single drive motor turns a common capstan shaft at high speeds and moves both master and copy tapes simultaneously, performs satisfactorily yet suggests…

  11. 47 CFR 76.93 - Parties entitled to network non-duplication protection.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 47 Telecommunication 4 2011-10-01 2011-10-01 false Parties entitled to network non-duplication... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.93 Parties entitled to network non-duplication...

  12. 47 CFR 76.92 - Cable network non-duplication; extent of protection.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Cable network non-duplication; extent of... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.92 Cable network non-duplication; extent of protection....

  13. 47 CFR 76.92 - Cable network non-duplication; extent of protection.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 47 Telecommunication 4 2011-10-01 2011-10-01 false Cable network non-duplication; extent of... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.92 Cable network non-duplication; extent of protection....

  14. 47 CFR 76.93 - Parties entitled to network non-duplication protection.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Parties entitled to network non-duplication... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.93 Parties entitled to network non-duplication...

  15. 47 CFR 76.93 - Parties entitled to network non-duplication protection.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 47 Telecommunication 4 2014-10-01 2014-10-01 false Parties entitled to network non-duplication... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.93 Parties entitled to network non-duplication...

  16. 47 CFR 76.93 - Parties entitled to network non-duplication protection.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 47 Telecommunication 4 2013-10-01 2013-10-01 false Parties entitled to network non-duplication... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.93 Parties entitled to network non-duplication...

  17. 47 CFR 76.93 - Parties entitled to network non-duplication protection.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 47 Telecommunication 4 2012-10-01 2012-10-01 false Parties entitled to network non-duplication... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.93 Parties entitled to network non-duplication...

  18. 47 CFR 76.92 - Cable network non-duplication; extent of protection.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 47 Telecommunication 4 2014-10-01 2014-10-01 false Cable network non-duplication; extent of... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.92 Cable network non-duplication; extent of protection....

  19. 47 CFR 76.92 - Cable network non-duplication; extent of protection.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 47 Telecommunication 4 2013-10-01 2013-10-01 false Cable network non-duplication; extent of... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.92 Cable network non-duplication; extent of protection....

  20. Brief Report: Regression Timing and Associated Features in "MECP2" Duplication Syndrome

    ERIC Educational Resources Information Center

    Peters, S. U.; Hundley, R. J.; Wilson, A. K.; Carvalho, C. M. B.; Lupski, J. R.; Ramocki, M. B.

    2013-01-01

    The aim of this study was to determine the frequency, timing, and associated features of developmental regression in "MECP2" duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with "MECP2" duplication syndrome.…

  1. Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia.

    PubMed

    Cladiere-Nassif, Victoire; Delaroche, Caroline; Pottier, Edwige; Feron, Jean-Marc

    2015-11-01

    We report a case of a 75-year-old woman presenting a hitherto undescribed condition of bilateral second carpal row duplication. She was diagnosed in childhood with both Marfan and Ehlers-Danlos syndromes, with no clear evidence and no further medical follow-up. She presented throughout her life with various articular symptoms, which appeared to be compatible with a diagnosis of multiple epiphyseal dysplasia, and underwent several surgical procedures on her knees and hips. Most recently, she was reporting pain at the base of the fifth metacarpal bone of the left hand. X-ray images and computed tomography (CT) were obtained for exploration and showed a total second row duplication in both carpi, with a total number of 18 carpal bones in each wrist. PMID:26649258

  2. Duplications of hox gene clusters and the emergence of vertebrates.

    PubMed

    Soshnikova, Natalia; Dewaele, Romain; Janvier, Philippe; Krumlauf, Robb; Duboule, Denis

    2013-06-15

    The vertebrate body plan is characterized by an increased complexity relative to that of all other chordates and large-scale gene amplifications have been associated with key morphological innovations leading to their remarkable evolutionary success. Here, we use compound full Hox clusters deletions to investigate how Hox genes duplications may have contributed to the emergence of vertebrate-specific innovations. We show that the combined deletion of HoxA and HoxB leads to an atavistic heart phenotype, suggesting that the ancestral HoxA/B cluster was co-opted to help in diversifying the complex organ in vertebrates. Other phenotypic effects observed seem to illustrate the resurgence of ancestral (plesiomorphic) features. This indicates that the duplications of Hox clusters were associated with the recruitment or formation of novel cis-regulatory controls, which were key to the evolution of many vertebrate features and hence to the evolutionary radiation of this group. PMID:23501471

  3. Auditing SNOMED Integration into the UMLS for Duplicate Concepts

    PubMed Central

    Huang, Kuo-Chuan; Geller, James; Elhanan, Gai; Perl, Yehoshua; Halper, Michael

    2010-01-01

    The UMLS contains terms from many sources. Every update of a source requires reintegration. Each new term needs to be assigned to a preexisting UMLS concept, or a new concept must be created. Whenever the integration process unnecessarily creates a new concept, this is undesirable. We report on a method to detect such undesirable duplicate concepts. Terms are removed from the UMLS and reintegrated using “piecewise synonym generation.” The concept of the reintegrated term is programmatically compared to the initial concept of the term (before removal). If they are different, this indicates an error, either in the integration process or in the initial concept. Thus, such a term-concept pair is deemed suspicious. A study of five hierarchies of the SNOMED found 7.7% suspicious matches. A human expert needs to evaluate the correctness of suspicious concepts. In a sample of 149 of those, 19% of concepts were found to be duplicates. PMID:21346993

  4. Rectal duplications accompanying rectovestibular fistula: report of two cases.

    PubMed

    Pampal, Arzu; Ozbayoglu, Asli; Kaya, Cem; Pehlivan, Yildiz; Poyraz, Aylar; Ozen, I Onur; Percin, Ferda E; Demirogullari, Billur

    2013-08-01

    Rectal duplication (RD) cysts are rare congenital anomalies that can be diagnosed with the presence of another opening in the perineum. They seldom accompany anorectal malformations (ARM). Two cases of RD accompanying ARM at opposite ends of the phenotypic spectrum, are described. A 3-month-old baby and a 2-year-old girl with ARM were scheduled for posterior sagittal anorectoplasty. The infant had an orifice at the anal dimple and the other had an orifice at the vestibulum posterior to the rectovestibular fistula. The infant presented with no other anomalies whereas the older one presented with an unusual coexistence of caudal duplication and caudal regression syndromes. Perioperatively both orifices were found to be related to retrorectal cysts, and were excised. Clinicians should always be alert when dealing with complex malformations. Because these malformations have variable anatomical and clinical presentations, they can represent a diagnostic and therapeutic challenge. PMID:23910814

  5. Intra-abdominal esophageal duplication cyst in an adult.

    PubMed

    Kim, Young Wan; Sohn, Tai Il; Shim, Hyo Sup; Kim, Choong Bai

    2005-12-31

    Esophageal duplication cysts are congenital anomalies of the foregut that are rarely found in the abdomen. An accurate preoperative diagnosis is not always possible, so the definitive diagnosis can be made by histologic examination of the surgical specimen. We experienced a case of Intra-abdominal esophageal duplication cyst in a 52-year-old female, who initially presented with an esophageal submucosal tumor on upper gastrointestinal endoscopy. She did not have any gastrointestinal symptoms. Barium esophagography, chest computed tomography scan and endoscopic ultrasonography demonstrated the cystic lesion in the intra-abdominal esophagus. Transhiatal enucleation of the lesion was performed successfully via the abdominal approach with no postoperative complications. Histologic study showed that the cyst wall contained a two-layered muscle coat and the surface of the lumen was lined by pseudo-ciliated columnar epithelium. The patient has been doing well without any complaints for 3 months of follow-up period. PMID:16385665

  6. Role of Duplicate Genes in Robustness against Deleterious Human Mutations

    PubMed Central

    Hsiao, Tzu-Lin; Vitkup, Dennis

    2008-01-01

    It is now widely recognized that robustness is an inherent property of biological systems [1],[2],[3]. The contribution of close sequence homologs to genetic robustness against null mutations has been previously demonstrated in simple organisms [4],[5]. In this paper we investigate in detail the contribution of gene duplicates to back-up against deleterious human mutations. Our analysis demonstrates that the functional compensation by close homologs may play an important role in human genetic disease. Genes with a 90% sequence identity homolog are about 3 times less likely to harbor known disease mutations compared to genes with remote homologs. Moreover, close duplicates affect the phenotypic consequences of deleterious mutations by making a decrease in life expectancy significantly less likely. We also demonstrate that similarity of expression profiles across tissues significantly increases the likelihood of functional compensation by homologs. PMID:18369440

  7. Inferring optimal species trees under gene duplication and loss.

    PubMed

    Bayzid, M S; Mirarab, S; Warnow, T

    2013-01-01

    Species tree estimation from multiple markers is complicated by the fact that gene trees can differ from each other (and from the true species tree) due to several biological processes, one of which is gene duplication and loss. Local search heuristics for two NP-hard optimization problems - minimize gene duplications (MGD) and minimize gene duplications and losses (MGDL) - are popular techniques for estimating species trees in the presence of gene duplication and loss. In this paper, we present an alternative approach to solving MGD and MGDL from rooted gene trees. First, we characterize each tree in terms of its "subtree-bipartitions" (a concept we introduce). Then we show that the MGD species tree is defined by a maximum weight clique in a vertex-weighted graph that can be computed from the subtree-bipartitions of the input gene trees, and the MGDL species tree is defined by a minimum weight clique in a similarly constructed graph. We also show that these optimal cliques can be found in polynomial time in the number of vertices of the graph using a dynamic programming algorithm (similar to that of Hallett and Lagergren(1)), because of the special structure of the graphs. Finally, we show that a constrained version of these problems, where the subtree-bipartitions of the species tree are drawn from the subtree-bipartitions of the input gene trees, can be solved in time that is polynomial in the number of gene trees and taxa. We have implemented our dynamic programming algorithm in a publicly available software tool, available at http://www.cs.utexas.edu/users/phylo/software/dynadup/. PMID:23424130

  8. [A case of cystic duplication of the stomach].

    PubMed

    Seumel-Janecka, B; Przetakiewicz-Jazdończyk, D; Gorczyca-Wiśniewska, E; Półtorak, J L

    1996-01-01

    The case is presented of a 25 year-old female patient with a gastric duplication cyst. There are only few reports in the literature of this rare malformation. The unspecific symptoms make diagnosis of this condition difficult. It is possible that, in future, due to the advances in visual diagnostic methods (ultrasound, endoscopy and computed tomography) this anomaly will be recognized more frequently and the case reports published extensively. PMID:8867485

  9. Complete Urethral Duplication in Children: A Case Report

    PubMed Central

    Roshanzamir, Fatollah; Mirshemirani, Alireza; Ghoroubi, Javad; Mahdavi, Alireza; Mohajerzadeh, Leily; Sarafi, Mehdi

    2016-01-01

    Introduction Urethral duplication (UD) is a rare congenital anomaly with multiple anatomical variants. Case Presentation In this article we present a four year-old child with complete UD. The patient was admitted for hypospadias repair, in evaluation we found type IIA1 UD according to Effmann classification. Patient underwent hypospadias repair saving complete UD. Conclusions After one year follow-up he has normal and continent urination. PMID:27307964

  10. Duplication of HEY2 in Cardiac and Neurologic Development

    PubMed Central

    Jordan, Valerie K.; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Daryl A.

    2015-01-01

    HEY2 is a basic helix-loop-helix (bHLH) transcription factor that plays an important role in the developing mammalian heart and brain. In humans, nonsynonymous mutations in HEY2 have been described in patients with atrial ventricular septal defects, and a subset of individuals with chromosomal deletions involving HEY2 have cardiac defects and cognitive impairment. Less is known about the potential effects of HEY2 overexpression. Here, we describe a female child with tetralogy of Fallot who developed severe right ventricular outflow tract obstruction due to a combination of infundibular and valvular pulmonary stenosis. She was also noted to have hypotonia, lower extremity weakness, fine motor delay and speech delay. A copy number variation (CNV) detection analysis followed by real-time quantitative PCR analysis revealed a single gene duplication of HEY2. This is the only duplication involving HEY2 identified in our database of over 70,000 individuals referred for CNV analysis. In the developing heart, overexpression of HEY2 is predicted to cause decreased expression of the cardiac transcription factor GATA4 which, in turn, has been shown to cause tetralogy of Fallot. In mice, misexpression of Hey2 in the developing brain leads to inhibition of neurogenesis and promotion of gliogenesis. Hence, duplication of HEY2 may be a contributing factor to both the congenital heart defects and the neurodevelopmental problems evident in our patient. These results suggest that individuals with HEY2 duplications should be screened for congenital heart defects and monitored closely for evidence of developmental delay and/or cognitive impairment. PMID:25832314

  11. Genome duplication improves rice root resistance to salt stress

    PubMed Central

    2014-01-01

    Background Salinity is a stressful environmental factor that limits the productivity of crop plants, and roots form the major interface between plants and various abiotic stresses. Rice is a salt-sensitive crop and its polyploid shows advantages in terms of stress resistance. The objective of this study was to investigate the effects of genome duplication on rice root resistance to salt stress. Results Both diploid rice (HN2026-2x and Nipponbare-2x) and their corresponding tetraploid rice (HN2026-4x and Nipponbare-4x) were cultured in half-strength Murashige and Skoog medium with 150 mM NaCl for 3 and 5 days. Accumulations of proline, soluble sugar, malondialdehyde (MDA), Na+ content, H+ (proton) flux at root tips, and the microstructure and ultrastructure in rice roots were examined. We found that tetraploid rice showed less root growth inhibition, accumulated higher proline content and lower MDA content, and exhibited a higher frequency of normal epidermal cells than diploid rice. In addition, a protective gap appeared between the cortex and pericycle cells in tetraploid rice. Next, ultrastructural analysis showed that genome duplication improved membrane, organelle, and nuclei stability. Furthermore, Na+ in tetraploid rice roots significantly decreased while root tip H+ efflux in tetraploid rice significantly increased. Conclusions Our results suggest that genome duplication improves root resistance to salt stress, and that enhanced proton transport to the root surface may play a role in reducing Na+ entrance into the roots. PMID:25184027

  12. Prevalent RNA recognition motif duplication in the human genome.

    PubMed

    Tsai, Yihsuan S; Gomez, Shawn M; Wang, Zefeng

    2014-05-01

    The sequence-specific recognition of RNA by proteins is mediated through various RNA binding domains, with the RNA recognition motif (RRM) being the most frequent and present in >50% of RNA-binding proteins (RBPs). Many RBPs contain multiple RRMs, and it is unclear how each RRM contributes to the binding specificity of the entire protein. We found that RRMs within the same RBP (i.e., sibling RRMs) tend to have significantly higher similarity than expected by chance. Sibling RRM pairs from RBPs shared by multiple species tend to have lower similarity than those found only in a single species, suggesting that multiple RRMs within the same protein might arise from domain duplication followed by divergence through random mutations. This finding is exemplified by a recent RRM domain duplication in DAZ proteins and an ancient duplication in PABP proteins. Additionally, we found that different similarities between sibling RRMs are associated with distinct functions of an RBP and that the RBPs tend to contain repetitive sequences with low complexity. Taken together, this study suggests that the number of RBPs with multiple RRMs has expanded in mammals and that the multiple sibling RRMs may recognize similar target motifs in a cooperative manner. PMID:24667216

  13. Using sea urchin gametes and zygotes to investigate centrosome duplication.

    PubMed

    Sluder, Greenfield

    2016-01-01

    Centriole structure and function in the sea urchin zygote parallel those in mammalian somatic cells. Here, I briefly introduce the properties and attributes of the sea urchin system that make it an attractive platform for the study of centrosome and centriole duplication. These attributes apply to all echinoderms readily available from commercial suppliers: sea urchins, sand dollars, and starfish. I list some of the practical aspects of the system that make it a cost- and time-effective system for experimental work and then list properties that are a "tool kit" that can be used to conduct studies that would not be practical, or in some cases not possible, with mammalian somatic cells. Since centrioles organize and localize the pericentriolar material that nucleates the astral arrays of microtubules (Bobinnec et al. in J Cell Biol 143(6):1575-1589, 1998), the pattern of aster duplication over several cell cycles can be used as a reliable measure for centriole duplication (Sluder and Rieder in J Cell Biol 100(3):887-896, 1985). Descriptions of the methods my laboratory has used to handle and image echinoderm zygotes are reviewed in Sluder et al. (Methods Cell Biol 61:439-472, 1999). Also included is a bibliography of papers that describe additional methods. PMID:27602205

  14. Primitive duplicate Hox clusters in the European eel's genome.

    PubMed

    Henkel, Christiaan V; Burgerhout, Erik; de Wijze, Daniëlle L; Dirks, Ron P; Minegishi, Yuki; Jansen, Hans J; Spaink, Herman P; Dufour, Sylvie; Weltzien, Finn-Arne; Tsukamoto, Katsumi; van den Thillart, Guido E E J M

    2012-01-01

    The enigmatic life cycle and elongated body of the European eel (Anguilla anguilla L., 1758) have long motivated scientific enquiry. Recently, eel research has gained in urgency, as the population has dwindled to the point of critical endangerment. We have assembled a draft genome in order to facilitate advances in all provinces of eel biology. Here, we use the genome to investigate the eel's complement of the Hox developmental transcription factors. We show that unlike any other teleost fish, the eel retains fully populated, duplicate Hox clusters, which originated at the teleost-specific genome duplication. Using mRNA-sequencing and in situ hybridizations, we demonstrate that all copies are expressed in early embryos. Theories of vertebrate evolution predict that the retention of functional, duplicate Hox genes can give rise to additional developmental complexity, which is not immediately apparent in the adult. However, the key morphological innovation elsewhere in the eel's life history coincides with the evolutionary origin of its Hox repertoire. PMID:22384188

  15. Functional resolution of duplicated hoxb5 genes in teleosts.

    PubMed

    Jarinova, Olga; Hatch, Gary; Poitras, Luc; Prudhomme, Christelle; Grzyb, Magdalena; Aubin, Josée; Bérubé-Simard, Félix-Antoine; Jeannotte, Lucie; Ekker, Marc

    2008-11-01

    The duplication-degeneration-complementation (DDC) model predicts that subfunctionalization of duplicated genes is a common mechanism for their preservation. The additional Hox complexes of teleost fish constitute a good system in which to test this hypothesis. Zebrafish have two hoxb complexes, with two hoxb5 genes, hoxb5a and hoxb5b, the expression patterns of which suggest subfunctionalization of an ancestral hoxb5 gene. We characterized conserved non-coding elements (CNEs) near the zebrafish hoxb5 genes. One CNE, J3, is only retained in the hoxb5a locus, whereas the others, J1 and J2, are present in both hoxb5 loci. When tested individually, the enhancer activity of individual CNEs, including J3, extensively overlapped and did not support a role in subfunctionalization. By contrast, reporter transgene constructs encompassing multiple CNEs were able to target reporter gene expression to unique domains of hoxb5a and hoxb5b expression. The deletion of J3 from the hoxb5a locus resulted in expression that approached that of hoxb5b, whereas its insertion in the hoxb5b locus increased reporter expression and rendered it more similar to that of hoxb5a. Our results highlight the importance of interactions between CNEs in the execution of complementary subfunctions of duplicated genes. PMID:18832391

  16. OTX2 Duplication Is Implicated in Hemifacial Microsomia

    PubMed Central

    Zielinski, Dina; Markus, Barak; Sheikh, Mona; Gymrek, Melissa; Chu, Clement; Zaks, Marta; Srinivasan, Balaji; Hoffman, Jodi D.

    2014-01-01

    Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indicated the absence of a pathogenic coding point mutation. A genome-wide survey of segmental variations identified a 1.3 Mb duplication of chromosome 14q22.3 in all affected individuals that was absent in more than 1000 chromosomes of ethnically matched controls. The duplication was absent in seven additional sporadic HFM cases, which is consistent with the known heterogeneity of the disorder. To find the critical gene in the duplicated region, we analyzed signatures of human craniofacial disease networks, mouse expression data, and predictions of dosage sensitivity. All of these approaches implicated OTX2 as the most likely causal gene. Moreover, OTX2 is a known oncogenic driver in medulloblastoma, a condition that was diagnosed in the proband during the course of the study. Our findings suggest a role for OTX2 dosage sensitivity in human craniofacial development and raise the possibility of a shared etiology between a subtype of hemifacial microsomia and medulloblastoma. PMID:24816892

  17. Impact of covert duplicate publication on meta-analysis: a case study.

    PubMed Central

    Tramèr, M. R.; Reynolds, D. J.; Moore, R. A.; McQuay, H. J.

    1997-01-01

    OBJECTIVE: To quantify the impact of duplicate data on estimates of efficacy. DESIGN: Systematic search for published full reports of randomised controlled trials investigating ondansetron's effect on postoperative emesis. Abstracts were not considered. DATA SOURCES: Eighty four trials (11,980 patients receiving ondansetron) published between 1991 and September 1996. MAIN OUTCOME MEASURES: Percentage of duplicated trials and patient data. Estimation of antiemetic efficacy (prevention of emesis) of the most duplicated ondansetron regimen. Comparison between the efficacy of non-duplicated and duplicated data. RESULTS: Data from nine trials had been published in 14 further reports, duplicating data from 3335 patients receiving ondansetron; none used a clear cross reference. Intravenous ondansetron 4 mg versus placebo was investigated in 16 reports not subject to duplicate publication, three reports subject to duplicate publication, and six duplicates of those three reports. The number needed to treat to prevent vomiting within 24 hours was 9.5 (95% confidence interval 6.9 to 15) in the 16 non-duplicated reports and 3.9 (3.3 to 4.8) in the three reports which were duplicated (P < 0.00001). When these 19 were combined the number needed to treat was 6.4 (5.3 to 7.9). When all original and duplicate reports were combined (n = 25) the apparent number needed to treat improved to 4.9 (4.4 to 5.6). CONCLUSIONS: By searching systematically we found 17% of published full reports of randomised trials and 28% of the patient data were duplicated. Trials reporting greater treatment effect were significantly more likely to be duplicated. Inclusion of duplicated data in meta-analysis led to a 23% overestimation of ondansetron's antiemetic efficacy. PMID:9310564

  18. Multiple Isolated Enteric Duplication Cysts in an Infant - A Diagnostic Dilemma

    PubMed Central

    Shetty, Gurucharan S; Chauhan, Udit; Singhal, Shweta; Prabhu, Shailesh M

    2016-01-01

    Completely isolated enteric duplication cysts are a rare variety of enteric duplication cysts having an independent blood supply with no communication with any part of the adjacent bowel segment. We report a case showing two completely isolated enteric duplication cysts originating in the greater omentum and transverse mesocolon in an infant. Multiple isolated enteric duplication cysts involving non-contiguous bowel segments have not been previously reported in the literature. In addition the transverse mesocolon duplication cyst was infected showing septations and loss of double wall sign resulting in difficulty in imaging diagnosis. Both the cysts were excised and confirmed on histopathology. PMID:26894149

  19. Evolutionary Fates and Dynamic Functionalization of Young Duplicate Genes in Arabidopsis Genomes.

    PubMed

    Wang, Jun; Tao, Feng; Marowsky, Nicholas C; Fan, Chuanzhu

    2016-09-01

    Gene duplication is a primary means to generate genomic novelties, playing an essential role in speciation and adaptation. Particularly in plants, a high abundance of duplicate genes has been maintained for significantly long periods of evolutionary time. To address the manner in which young duplicate genes were derived primarily from small-scale gene duplication and preserved in plant genomes and to determine the underlying driving mechanisms, we generated transcriptomes to produce the expression profiles of five tissues in Arabidopsis thaliana and the closely related species Arabidopsis lyrata and Capsella rubella Based on the quantitative analysis metrics, we investigated the evolutionary processes of young duplicate genes in Arabidopsis. We determined that conservation, neofunctionalization, and specialization are three main evolutionary processes for Arabidopsis young duplicate genes. We explicitly demonstrated the dynamic functionalization of duplicate genes along the evolutionary time scale. Upon origination, duplicates tend to maintain their ancestral functions; but as they survive longer, they might be likely to develop distinct and novel functions. The temporal evolutionary processes and functionalization of plant duplicate genes are associated with their ancestral functions, dynamic DNA methylation levels, and histone modification abundances. Furthermore, duplicate genes tend to be initially expressed in pollen and then to gain more interaction partners over time. Altogether, our study provides novel insights into the dynamic retention processes of young duplicate genes in plant genomes. PMID:27485883

  20. De Novo duplication in Charcot-Marie-Tooth Type 1A

    SciTech Connect

    Mandich, P.; Bellone, E.; Ajmar, F.

    1996-09-01

    We read with interest the paper on {open_quotes}Prevalence and Origin of De Novo Duplications in Charcot-Marie-Tooth Disease Type 1A: First Report of a De Novo Duplication with a Maternal Origin,{close_quotes}. They reported their experience with 10 sporadic cases of Charcot-Marie-Tooth type 1A (CMT1A) in which it was demonstrated that the disease had arisen as the result of a de novo duplication. They analyzed the de novo-duplication families by using microsatellite markers and identified the parental origin of the duplication in eight cases. In one family the duplication was of maternal origin, whereas in the remaining seven cases it was of paternal origin. The authors concluded that their report was the first evidence of a de novo duplication of maternal origin, suggesting that this is not a phenomenon associated solely with male meiosis. 7 refs.

  1. The roles of whole-genome and small-scale duplications in the functional specialization of Saccharomyces cerevisiae genes.

    PubMed

    Fares, Mario A; Keane, Orla M; Toft, Christina; Carretero-Paulet, Lorenzo; Jones, Gary W

    2013-01-01

    Researchers have long been enthralled with the idea that gene duplication can generate novel functions, crediting this process with great evolutionary importance. Empirical data shows that whole-genome duplications (WGDs) are more likely to be retained than small-scale duplications (SSDs), though their relative contribution to the functional fate of duplicates remains unexplored. Using the map of genetic interactions and the re-sequencing of 27 Saccharomyces cerevisiae genomes evolving for 2,200 generations we show that SSD-duplicates lead to neo-functionalization while WGD-duplicates partition ancestral functions. This conclusion is supported by: (a) SSD-duplicates establish more genetic interactions than singletons and WGD-duplicates; (b) SSD-duplicates copies share more interaction-partners than WGD-duplicates copies; (c) WGD-duplicates interaction partners are more functionally related than SSD-duplicates partners; (d) SSD-duplicates gene copies are more functionally divergent from one another, while keeping more overlapping functions, and diverge in their sub-cellular locations more than WGD-duplicates copies; and (e) SSD-duplicates complement their functions to a greater extent than WGD-duplicates. We propose a novel model that uncovers the complexity of evolution after gene duplication. PMID:23300483

  2. Evolutionary Diversification of Plant Shikimate Kinase Gene Duplicates

    PubMed Central

    Fucile, Geoffrey; Falconer, Shannon; Christendat, Dinesh

    2008-01-01

    Shikimate kinase (SK; EC 2.7.1.71) catalyzes the fifth reaction of the shikimate pathway, which directs carbon from the central metabolism pool to a broad range of secondary metabolites involved in plant development, growth, and stress responses. In this study, we demonstrate the role of plant SK gene duplicate evolution in the diversification of metabolic regulation and the acquisition of novel and physiologically essential function. Phylogenetic analysis of plant SK homologs resolves an orthologous cluster of plant SKs and two functionally distinct orthologous clusters. These previously undescribed genes, shikimate kinase-like 1 (SKL1) and -2 (SKL2), do not encode SK activity, are present in all major plant lineages, and apparently evolved under positive selection following SK gene duplication over 400 MYA. This is supported by functional assays using recombinant SK, SKL1, and SKL2 from Arabidopsis thaliana (At) and evolutionary analyses of the diversification of SK-catalytic and -substrate binding sites based on theoretical structure models. AtSKL1 mutants yield albino and novel variegated phenotypes, which indicate SKL1 is required for chloroplast biogenesis. Extant SKL2 sequences show a strong genetic signature of positive selection, which is enriched in a protein–protein interaction module not found in other SK homologs. We also report the first kinetic characterization of plant SKs and show that gene expression diversification among the AtSK inparalogs is correlated with developmental processes and stress responses. This study examines the functional diversification of ancient and recent plant SK gene duplicates and highlights the utility of SKs as scaffolds for functional innovation. PMID:19057671

  3. Gastrointestinal Stromal Tumor Arising From a Gastric Duplication Cyst

    PubMed Central

    Machicado, Jorge; Davogustto, Giovanni

    2016-01-01

    Gastric duplication cysts (GDC) are rarely diagnosed in adults, but previous cases have been associated with malignancy. We present a case of gastrointestinal stromal tumor (GIST) arising from a GDC in a 71-year-old woman who presented with 3 years of early satiety, anorexia, abdominal distention, and weight loss. Abdominal CT showed a 9.3 x 5.2 x 9.5-cm well-circumscribed cystic mass arising 3 cm above the gastroduodenal junction. The cyst was resected, and histopathology was consistent with GDC. Future studies are needed to clarify the malignant potential of GDC and the molecular pathways for its development. PMID:27144196

  4. 10p Duplication characterized by fluorescence in situ hybridization

    SciTech Connect

    Wiktor, A.; Feldman, G.L.; Van Dyke, D.L.; Kratkoczki, P.; Ditmars, D.M. Jr.

    1994-09-01

    We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4)t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes. 19 refs., 4 figs.

  5. Tracheal Atresia with Segmental Esophageal Duplication: An Unusual Anatomic Arrangement.

    PubMed

    Gaerty, Kirsten; Thomas, Joseph T; Petersen, Scott; Tan, Edwin; Kumar, Sailesh; Gardener, Glenn; Armes, Jane

    2016-01-01

    An unusual anatomic configuration of segmental tracheal agenesis/atresia with esophageal duplication on autopsy in a fetus that demised in utero at 29 weeks is reported. The mother was scanned initially for a cardiac anomaly at 20 weeks and on follow-up scan at 27 weeks had polyhydramnios and underwent amnioreduction. The final autopsy diagnosis was vertebral, ano-rectal, cardiac, tracheoesophageal, renal, and limb malformations (VACTERL). We discuss the autopsy findings along with the embryological mechanisms and compare the configuration with Floyd's classification for tracheal agenesis. The difficulties in prenatal diagnosis are discussed. PMID:26367770

  6. Photon number amplification/duplication through parametric conversion

    NASA Technical Reports Server (NTRS)

    Dariano, G. M.; Macchiavello, C.; Paris, M.

    1993-01-01

    The performance of parametric conversion in achieving number amplification and duplication is analyzed. It is shown that the effective maximum gains G(sub *) remain well below their integer ideal values, even for large signals. Correspondingly, one has output Fano factors F(sub *) which are increasing functions of the input photon number. On the other hand, in the inverse (deamplifier/recombiner) operating mode quasi-ideal gains G(sub *) and small factors F(sub *) approximately equal to 10 percent are obtained. Output noise and non-ideal gains are ascribed to spontaneous parametric emission.

  7. An Adult Gastric Duplication Cyst Mimicking a Gastrointestinal Stromal Tumor.

    PubMed

    Yoda, Takenori; Furihata, Makoto; Nagao, Sayaka; Wada, Tomonori

    2016-01-01

    We herein describe a rare case of a 24-year-old man who presented with severe epigastralgia after consuming a considerable amount of broiled meat. Computed tomography revealed a cystic lesion adjacent to the distal stomach, with high intensity on T2-weighted magnetic resonance imaging. Upper endoscopy showed a cystic mass measuring 6 cm in diameter, mimicking a submucosal tumor adjacent to the pyloric valve, with duodenum invagination, characteristic of ball valve syndrome. Endoscopic ultrasonography showed that the lesion was contiguous through the first to the third layer of the stomach. Therefore, we performed distal gastrectomy. Pathology showed that the lesion was a gastric duplication cyst without malignancy. PMID:27580540

  8. Targeted Tandem Duplication of a Large Chromosomal Segment in Aspergillus oryzae

    PubMed Central

    Sato, Atsushi; Ogawa, Masahiro; Hanya, Yoshiki; Oguma, Tetsuya

    2014-01-01

    We describe here the first successful construction of a targeted tandem duplication of a large chromosomal segment in Aspergillus oryzae. The targeted tandem chromosomal duplication was achieved by using strains that had a 5′-deleted pyrG upstream of the region targeted for tandem chromosomal duplication and a 3′-deleted pyrG downstream of the target region. Consequently, strains bearing a 210-kb targeted tandem chromosomal duplication near the centromeric region of chromosome 8 and strains bearing a targeted tandem chromosomal duplication of a 700-kb region of chromosome 2 were successfully constructed. The strains bearing the tandem chromosomal duplication were efficiently obtained from the regenerated protoplast of the parental strains. However, the generation of the chromosomal duplication did not depend on the introduction of double-stranded breaks (DSBs) by I-SceI. The chromosomal duplications of these strains were stably maintained after five generations of culture under nonselective conditions. The strains bearing the tandem chromosomal duplication in the 700-kb region of chromosome 2 showed highly increased protease activity in solid-state culture, indicating that the duplication of large chromosomal segments could be a useful new breeding technology and gene analysis method. PMID:24837372

  9. Expression Divergence of Duplicate Genes in the Protein Kinase Superfamily in Pacific Oyster.

    PubMed

    Gao, Dahai; Ko, Dennis C; Tian, Xinmin; Yang, Guang; Wang, Liuyang

    2015-01-01

    Gene duplication has been proposed to serve as the engine of evolutionary innovation. It is well recognized that eukaryotic genomes contain a large number of duplicated genes that evolve new functions or expression patterns. However, in mollusks, the evolutionary mechanisms underlying the divergence and the functional maintenance of duplicate genes remain little understood. In the present study, we performed a comprehensive analysis of duplicate genes in the protein kinase superfamily using whole genome and transcriptome data for the Pacific oyster. A total of 64 duplicated gene pairs were identified based on a phylogenetic approach and the reciprocal best BLAST method. By analyzing gene expression from RNA-seq data from 69 different developmental and stimuli-induced conditions (nine tissues, 38 developmental stages, eight dry treatments, seven heat treatments, and seven salty treatments), we found that expression patterns were significantly correlated for a number of duplicate gene pairs, suggesting the conservation of regulatory mechanisms following divergence. Our analysis also identified a subset of duplicate gene pairs with very high expression divergence, indicating that these gene pairs may have been subjected to transcriptional subfunctionalization or neofunctionalization after the initial duplication events. Further analysis revealed a significant correlation between expression and sequence divergence (as revealed by synonymous or nonsynonymous substitution rates) under certain conditions. Taken together, these results provide evidence for duplicate gene sequence and expression divergence in the Pacific oyster, accompanying its adaptation to harsh environments. Our results provide new insights into the evolution of duplicate genes and their expression levels in the Pacific oyster. PMID:26417197

  10. Evolutionary Analysis of Sequence Divergence and Diversity of Duplicate Genes in Aspergillus fumigatus

    PubMed Central

    Yang, Ence; Hulse, Amanda M.; Cai, James J.

    2012-01-01

    Gene duplication as a major source of novel genetic material plays an important role in evolution. In this study, we focus on duplicate genes in Aspergillus fumigatus, a ubiquitous filamentous fungus causing life-threatening human infections. We characterize the extent and evolutionary patterns of the duplicate genes in the genome of A. fumigatus. Our results show that A. fumigatus contains a large amount of duplicate genes with pronounced sequence divergence between two copies, and approximately 10% of them diverge asymmetrically, i.e. two copies of a duplicate gene pair diverge at significantly different rates. We use a Bayesian approach of the McDonald-Kreitman test to infer distributions of selective coefficients γ(=2Nes) and find that (1) the values of γ for two copies of duplicate genes co-vary positively and (2) the average γ for the two copies differs between genes from different gene families. This analysis highlights the usefulness of combining divergence and diversity data in studying the evolution of duplicate genes. Taken together, our results provide further support and refinement to the theories of gene duplication. Through characterizing the duplicate genes in the genome of A. fumigatus, we establish a computational framework, including parameter settings and methods, for comparative study of genetic redundancy and gene duplication between different fungal species. PMID:23225993