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Sample records for analyzing segmental duplications

  1. 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.

  2. 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...

  3. 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.

  4. 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

  5. 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...

  6. Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR.

    PubMed

    Kong, Xiangdong; Li, Lin; Sun, Lei; Fu, Kepeng; Long, Ju; Weng, Xunjin; Ye, Xuehe; Liu, Xinxiong; Wang, Bo; Yan, Shanhuo; Ye, Haiming; Fan, Zuqian

    2014-01-01

    The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies. This method is based on the co-amplification of segmental duplications located on two different chromosomes using a single pair of fluorescent primers. The PCR products of different sizes were subsequently analyzed through capillary electrophoresis, and the aneuploidies were determined based on the relative dosage between the two chromosomes. Each primer set, containing five pairs of primers, was designed to simultaneously detect aneuploidies located on chromosomes 21, 18, 13, X and Y in a single reaction. We applied these two primer sets to DNA samples isolated from individuals with trisomy 21 (n = 36); trisomy 18 (n = 6); trisomy 13 (n = 4); 45, X (n = 5); 47, XXX (n = 3); 48, XXYY (n = 2); and unaffected controls (n = 40). We evaluated the performance of this method using the karyotyping results. A correct and unambiguous diagnosis with 100% sensitivity and 100% specificity, was achieved for clinical samples examined. Thus, the present study demonstrates that SD-QF-PCR is a robust, rapid and sensitive method for the diagnosis of common aneuploidies, and these analyses can be performed in less than 4 hours for a single sample, providing a competitive alternative for routine use. PMID:24625828

  7. 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

  8. 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

  9. 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

  10. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

    PubMed

    Tai, Derek J C; Ragavendran, Ashok; Manavalan, Poornima; Stortchevoi, Alexei; Seabra, Catarina M; Erdin, Serkan; Collins, Ryan L; Blumenthal, Ian; Chen, Xiaoli; Shen, Yiping; Sahin, Mustafa; Zhang, Chengsheng; Lee, Charles; Gusella, James F; Talkowski, Michael E

    2016-03-01

    Recurrent, reciprocal genomic disorders resulting from non-allelic homologous recombination (NAHR) between near-identical segmental duplications (SDs) are a major cause of human disease, often producing phenotypically distinct syndromes. The genomic architecture of flanking SDs presents a challenge for modeling these syndromes; however, the capability to efficiently generate reciprocal copy number variants (CNVs) that mimic NAHR would represent a valuable modeling tool. We describe here a CRISPR/Cas9 genome engineering method, single-guide CRISPR/Cas targeting of repetitive elements (SCORE), to model reciprocal genomic disorders and demonstrate its capabilities by generating reciprocal CNVs of 16p11.2 and 15q13.3, including alteration of one copy-equivalent of the SDs that mediate NAHR in vivo. The method is reproducible, and RNA sequencing reliably clusters transcriptional signatures from human subjects with in vivo CNVs and their corresponding in vitro models. This new approach will provide broad applicability for the study of genomic disorders and, with further development, may also permit efficient correction of these defects. PMID:26829649

  11. Neofunctionalization of a Duplicate dachshund Gene Underlies the Evolution of a Novel Leg Segment in Arachnids.

    PubMed

    Turetzek, Natascha; Pechmann, Matthias; Schomburg, Christoph; Schneider, Julia; Prpic, Nikola-Michael

    2016-01-01

    The acquisition of a novel function, or neofunctionalization, protects duplicated genes from redundancy and subsequent loss, and is a major force that drives adaptive evolution. Neofunctionalization has been inferred for many duplicated genes based on differences in regulation between the parental gene and its duplicate. However, only few studies actually link the new function of a duplicated gene to a novel morphological or physiological character of the organism. Here we show that the duplication of dachshund (dac) in arachnids (spiders and allies) is linked with the evolution of a novel leg segment, the patella. We have studied dac genes in two distantly related spider species, the entelegyne spider Parasteatoda tepidariorum and the haplogyne spider Pholcus phalangioides. Both species possess two paralogous dac genes that duplicated before the split between entelegyne and haplogyne spiders. In contrast to the evolutionarily highly conserved dac1, its duplicate dac2 is strongly expressed in the patella leg segment during embryogenesis in both species. Using parental RNA interference in P. tepidariorum we show that dac2 is required for the development of the patella segment. If dac2 function is impaired, then the patella is fused with the tibia into a single leg segment. Thus, removing the function of dac2 experimentally reverts P. tepidariorum leg morphology into a stage before the duplication of dac and the evolution of the patella segment. Our results indicate that the origin of the patella is the result of the duplication and subsequent neofunctionalization of dac in the arachnid lineage. PMID:26443673

  12. Gene structure variation in segmental duplication block C of human chromosome 7q 11.23 during primate evolution.

    PubMed

    Kim, Yun-Ji; Ahn, Kung; Gim, Jeong-An; Oh, Man Hwan; Han, Kyudong; Kim, Heui-Soo

    2015-12-01

    Segmental duplication, or low-copy repeat (LCR) event, occurs during primate evolution and is an important source of genomic diversity, including gain or loss of gene function. The human chromosome 7q 11.23 is related to the William-Beuren syndrome and contains large region-specific LCRs composed of blocks A, B, and C that have different copy numbers in humans and different primates. We analyzed the structure of POM121, NSUN5, FKBP6, and TRIM50 genes in the LCRs of block C. Based on computational analysis, POM121B created by a segmental duplication acquired a new exonic region, whereas NSUN5B (NSUN5C) showed structural variation by integration of HERV-K LTR after duplication from the original NSUN5 gene. The TRIM50 gene originally consists of seven exons, whereas the duplicated TRIM73 and TRIM74 genes present five exons because of homologous recombination-mediated deletion. In addition, independent duplication events of the FKBP6 gene generated two pseudogenes at different genomic locations. In summary, these clustered genes are created by segmental duplication, indicating that they show dynamic evolutionary events, leading to structure variation in the primate genome. PMID:26196062

  13. Recent Segmental Duplications in the Working Draft Assembly of the Brown Norway Rat

    PubMed Central

    Tuzun, Eray; Bailey, Jeffrey A.; Eichler, Evan E.

    2004-01-01

    We assessed the content, structure, and distribution of segmental duplications (≥90% sequence identity, ≥5 kb length) within the published version of the Rattus norvegicus genome assembly (v.3.1). The overall fraction of duplicated sequence within the rat assembly (2.92%) is greater than that of the mouse (1%–1.2%) but significantly less than that of human (∼5%). Duplications were nonuniformly distributed, occurring predominantly as tandem and tightly clustered intrachromosomal duplications. Regions containing extensive interchromosomal duplications were observed, particularly within subtelomeric and pericentromeric regions. We identified 41 discrete genomic regions greater than 1 Mb in size, termed “duplication blocks.” These appear to have been the target of extensive duplication over millions of years of evolution. Gene content within duplicated regions (∼1%) was lower than expected based on the genome representation. Interestingly, sequence contigs lacking chromosome assignment (“the unplaced chromosome”) showed a marked enrichment for segmental duplication (45% of 75.2 Mb), indicating that segmental duplications have been problematic for sequence and assembly of the rat genome. Further targeted efforts are required to resolve the organization and complexity of these regions. PMID:15059990

  14. 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

  15. A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications

    PubMed Central

    2012-01-01

    Introduction Segmental duplications (low-copy repeats) are the recently duplicated genomic segments in the human genome that display nearly identical (> 90%) sequences and account for about 5% of euchromatic regions. In germline, duplicated segments mediate nonallelic homologous recombination and thus cause both non-disease-causing copy-number variants and genomic disorders. To what extent duplicated segments play a role in somatic DNA rearrangements in cancer remains elusive. Duplicated segments often cluster and form genomic blocks enriched with both direct and inverted repeats (complex genomic regions). Such complex regions could be fragile and play a mechanistic role in the amplification of the ERBB2 gene in breast tumors, because repeated sequences are known to initiate gene amplification in model systems. Methods We conducted polymerase chain reaction (PCR)-based assays for primary breast tumors and analyzed publically available array-comparative genomic hybridization data to map a common copy-number breakpoint in ERBB2-amplified primary breast tumors. We further used molecular, bioinformatics, and population-genetics approaches to define duplication contents, structural variants, and haplotypes within the common breakpoint. Results We found a large (> 300-kb) block of duplicated segments that was colocalized with a common-copy number breakpoint for ERBB2 amplification. The breakpoint that potentially initiated ERBB2 amplification localized in a region 1.5 megabases (Mb) on the telomeric side of ERBB2. The region is very complex, with extensive duplications of KRTAP genes, structural variants, and, as a result, a paucity of single-nucleotide polymorphism (SNP) markers. Duplicated segments are varied in size and degree of sequence homology, indicating that duplications have occurred recurrently during genome evolution. Conclusions Amplification of the ERBB2 gene in breast tumors is potentially initiated by a complex region that has unusual genomic features and

  16. Individualized cattle copy number and segmental duplication maps using next generation sequencing

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Copy Number Variations (CNVs) affect a wide range of phenotypic traits; however, CNVs in or near segmental duplication regions are often intractable. Using a read depth approach based on next generation sequencing, we examined genome-wide copy number differences among five taurine (three Angus, one ...

  17. Sequence Analysis of the Segmental Duplication Responsible for Paris Sex-Ratio Drive in Drosophila simulans

    PubMed Central

    Fouvry, Lucie; Ogereau, David; Berger, Anne; Gavory, Frederick; Montchamp-Moreau, Catherine

    2011-01-01

    Sex-ratio distorters are X-linked selfish genetic elements that facilitate their own transmission by subverting Mendelian segregation at the expense of the Y chromosome. Naturally occurring cases of sex-linked distorters have been reported in a variety of organisms, including several species of Drosophila; they trigger genetic conflict over the sex ratio, which is an important evolutionary force. However, with a few exceptions, the causal loci are unknown. Here, we molecularly characterize the segmental duplication involved in the Paris sex-ratio system that is still evolving in natural populations of Drosophila simulans. This 37.5 kb tandem duplication spans six genes, from the second intron of the Trf2 gene (TATA box binding protein-related factor 2) to the first intron of the org-1 gene (optomotor-blind-related-gene-1). Sequence analysis showed that the duplication arose through the production of an exact copy on the template chromosome itself. We estimated this event to be less than 500 years old. We also detected specific signatures of the duplication mechanism; these support the Duplication-Dependent Strand Annealing model. The region at the junction between the two duplicated segments contains several copies of an active transposable element, Hosim1, alternating with 687 bp repeats that are noncoding but transcribed. The almost-complete sequence identity between copies made it impossible to complete the sequencing and assembly of this region. These results form the basis for the functional dissection of Paris sex-ratio drive and will be valuable for future studies designed to better understand the dynamics and the evolutionary significance of sex chromosome drive. PMID:22384350

  18. De novo direct duplication of chromosome segment 22q11.2-q13.1

    SciTech Connect

    Fujimoto, Atsuko; Lin, Ming S.

    1996-03-29

    Lindsay et al. [1995] reported a case of de novo duplication of the segment 22q11-q12. Molecular cytogenetics studies showed that the segment includes the regions responsible for the {open_quotes}cat eye,{close_quotes} DiGeorge, and velo-cardio-facial syndrome, and extends distal to the breakpoint cluster region. The phenotype was milder than that of complete trisomy 22 and der(22)t(11;22) (q23;q11) syndrome and was similar in type and severity to that of {open_quotes}cat eye{close_quotes} syndrome (CES). They suggested that trisomy of gene(s) responsible for the CES might have a predominant phenotypic effect over other genes present in the region duplicated in their patient. 3 refs., 2 figs.

  19. How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.

    PubMed

    Symmons, Orsolya; Váradi, András; Arányi, Tamás

    2008-12-01

    The completion of the Human Genome Project has brought the understanding that our genome contains an unexpectedly large proportion of segmental duplications. This poses the challenge of elucidating the consequences of recent duplications on physiology. We have conducted an in-depth study of a subset of segmental duplications on chromosome 16. We focused on PKD1 and ABCC6 duplications because mutations affecting these genes are responsible for the Mendelian disorders autosomal dominant polycystic kidney disease and pseudoxanthoma elasticum, respectively. We establish that duplications of PKD1 and ABCC6 are associated to low-copy repeat 16a and show that such duplications have occurred several times independently in different primate species. We demonstrate that partial duplication of PKD1 and ABCC6 has numerous consequences: the pseudogenes give rise to new transcripts and mediate gene conversion, which not only results in disease-causing mutations but also serves as a reservoir for sequence variation. The duplicated segments are also involved in submicroscopic and microscopic genomic rearrangements, contributing to structural variation in human and chromosomal break points in the gibbon. In conclusion, our data shed light on the recent and ongoing evolution of chromosome 16 mediated by segmental duplication and deepen our understanding of the history of two Mendelian disorder genes. PMID:18791038

  20. Segmental duplication and copy number variation of the patched domain containing 3 (PTCHD3) locus on pig chromosome 10

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mammalian genomes contain numerous blocks of highly homologous duplicated regions that can vary in copy number. We identified a segmental duplication encompassing the PTCHD3 gene, which has predicted hedgehog receptor activity, in a QTL region for nipple number on SSC10. A 3-fold coverage BAC screen...

  1. Alternative Transposition Generates New Chimeric Genes and Segmental Duplications at the Maize p1 Locus.

    PubMed

    Wang, Dafang; Yu, Chuanhe; Zuo, Tao; Zhang, Jianbo; Weber, David F; Peterson, Thomas

    2015-11-01

    The maize Ac/Ds transposon family was the first transposable element system identified and characterized by Barbara McClintock. Ac/Ds transposons belong to the hAT family of class II DNA transposons. We and others have shown that Ac/Ds elements can undergo a process of alternative transposition in which the Ac/Ds transposase acts on the termini of two separate, nearby transposons. Because these termini are present in different elements, alternative transposition can generate a variety of genome alterations such as inversions, duplications, deletions, and translocations. Moreover, Ac/Ds elements transpose preferentially into genic regions, suggesting that structural changes arising from alternative transposition may potentially generate chimeric genes at the rearrangement breakpoints. Here we identified and characterized 11 independent cases of gene fusion induced by Ac alternative transposition. In each case, a functional chimeric gene was created by fusion of two linked, paralogous genes; moreover, each event was associated with duplication of the ∼70-kb segment located between the two paralogs. An extant gene in the maize B73 genome that contains an internal duplication apparently generated by an alternative transposition event was also identified. Our study demonstrates that alternative transposition-induced duplications may be a source for spontaneous creation of diverse genome structures and novel genes in maize. PMID:26434719

  2. Genome Resilience and Prevalence of Segmental Duplications Following Fast Neutron Irradiation of Soybean

    PubMed Central

    Bolon, Yung-Tsi; Stec, Adrian O.; Michno, Jean-Michel; Roessler, Jeffrey; Bhaskar, Pudota B.; Ries, Landon; Dobbels, Austin A.; Campbell, Benjamin W.; Young, Nathan P.; Anderson, Justin E.; Grant, David M.; Orf, James H.; Naeve, Seth L.; Muehlbauer, Gary J.; Vance, Carroll P.; Stupar, Robert M.

    2014-01-01

    Fast neutron radiation has been used as a mutagen to develop extensive mutant collections. However, the genome-wide structural consequences of fast neutron radiation are not well understood. Here, we examine the genome-wide structural variants observed among 264 soybean [Glycine max (L.) Merrill] plants sampled from a large fast neutron-mutagenized population. While deletion rates were similar to previous reports, surprisingly high rates of segmental duplication were also found throughout the genome. Duplication coverage extended across entire chromosomes and often prevailed at chromosome ends. High-throughput resequencing analysis of selected mutants resolved specific chromosomal events, including the rearrangement junctions for a large deletion, a tandem duplication, and a translocation. Genetic mapping associated a large deletion on chromosome 10 with a quantitative change in seed composition for one mutant. A tandem duplication event, located on chromosome 17 in a second mutant, was found to cosegregate with a short petiole mutant phenotype, and thus may serve as an example of a morphological change attributable to a DNA copy number gain. Overall, this study provides insight into the resilience of the soybean genome, the patterns of structural variation resulting from fast neutron mutagenesis, and the utility of fast neutron-irradiated mutants as a source of novel genetic losses and gains. PMID:25213171

  3. Explosive Tandem and Segmental Duplications of Multigenic Families in Eucalyptus grandis

    PubMed Central

    Li, Qiang; Yu, Hong; Cao, Phi Bang; Fawal, Nizar; Mathé, Catherine; Azar, Sahar; Cassan-Wang, Hua; Myburg, Alexander A.; Grima-Pettenati, Jacqueline; Marque, Christiane; Teulières, Chantal; Dunand, Christophe

    2015-01-01

    Plant organisms contain a large number of genes belonging to numerous multigenic families whose evolution size reflects some functional constraints. Sequences from eight multigenic families, involved in biotic and abiotic responses, have been analyzed in Eucalyptus grandis and compared with Arabidopsis thaliana. Two transcription factor families APETALA 2 (AP2)/ethylene responsive factor and GRAS, two auxin transporter families PIN-FORMED and AUX/LAX, two oxidoreductase families (ascorbate peroxidases [APx] and Class III peroxidases [CIII Prx]), and two families of protective molecules late embryogenesis abundant (LEA) and DNAj were annotated in expert and exhaustive manner. Many recent tandem duplications leading to the emergence of species-specific gene clusters and the explosion of the gene numbers have been observed for the AP2, GRAS, LEA, PIN, and CIII Prx in E. grandis, while the APx, the AUX/LAX and DNAj are conserved between species. Although no direct evidence has yet demonstrated the roles of these recent duplicated genes observed in E. grandis, this could indicate their putative implications in the morphological and physiological characteristics of E. grandis, and be the key factor for the survival of this nondormant species. Global analysis of key families would be a good criterion to evaluate the capabilities of some organisms to adapt to environmental variations. PMID:25769696

  4. Explosive tandem and segmental duplications of multigenic families in Eucalyptus grandis.

    PubMed

    Li, Qiang; Yu, Hong; Cao, Phi Bang; Fawal, Nizar; Mathé, Catherine; Azar, Sahar; Cassan-Wang, Hua; Myburg, Alexander A; Grima-Pettenati, Jacqueline; Marque, Christiane; Teulières, Chantal; Dunand, Christophe

    2015-04-01

    Plant organisms contain a large number of genes belonging to numerous multigenic families whose evolution size reflects some functional constraints. Sequences from eight multigenic families, involved in biotic and abiotic responses, have been analyzed in Eucalyptus grandis and compared with Arabidopsis thaliana. Two transcription factor families APETALA 2 (AP2)/ethylene responsive factor and GRAS, two auxin transporter families PIN-FORMED and AUX/LAX, two oxidoreductase families (ascorbate peroxidases [APx] and Class III peroxidases [CIII Prx]), and two families of protective molecules late embryogenesis abundant (LEA) and DNAj were annotated in expert and exhaustive manner. Many recent tandem duplications leading to the emergence of species-specific gene clusters and the explosion of the gene numbers have been observed for the AP2, GRAS, LEA, PIN, and CIII Prx in E. grandis, while the APx, the AUX/LAX and DNAj are conserved between species. Although no direct evidence has yet demonstrated the roles of these recent duplicated genes observed in E. grandis, this could indicate their putative implications in the morphological and physiological characteristics of E. grandis, and be the key factor for the survival of this nondormant species. Global analysis of key families would be a good criterion to evaluate the capabilities of some organisms to adapt to environmental variations. PMID:25769696

  5. Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

    PubMed Central

    Nuttle, Xander; Itsara, Andy; Shendure, Jay; Eichler, Evan E.

    2014-01-01

    The most common recurrent copy number variants associated with autism, developmental delay, and epilepsy are flanked by segmental duplications. Complete genetic characterization of these events is challenging because their breakpoints often occur within high-identity, copy number polymorphic paralogous sequences that cannot be specifically assayed using hybridization-based methods. Here, we provide a protocol for breakpoint resolution with sequence-level precision. Massively parallel sequencing is performed on libraries generated from haplotype-resolved chromosomes, genomic DNA, or molecular inversion probe–captured breakpoint-informative regions harboring paralog-distinguishing variants. Quantifying sequencing depth over informative sites enables breakpoint localization, typically within several kilobases to tens of kilobases. Depending on the approach employed, the sequencing platform, and the accuracy and completeness of the reference genome sequence, this protocol takes from a few days to several months to complete. Once established for a specific genomic disorder, it is possible to process thousands of DNA samples within as little as 3–4 weeks. PMID:24874815

  6. Comparison of the segmental duplication pattern on two cattle genome assemblies using FISH

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We previously estimated that 3.1% (94.4 Mb) of the bovine genome consists of recently duplicated sequences (>= 1kb in length, >= 90% sequence identity) using two distinct computational analyses (WGAC and WSSD). In this study, we further validated selected large duplications and compared their distri...

  7. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

    PubMed

    D'Angelo, Carla S; Gajecka, Marzena; Kim, Chong A; Gentles, Andrew J; Glotzbach, Caron D; Shaffer, Lisa G; Koiffmann, Célia P

    2009-06-01

    The mechanisms involved in the formation of subtelomeric rearrangements are now beginning to be elucidated. Breakpoint sequencing analysis of 1p36 rearrangements has made important contributions to this line of inquiry. Despite the unique architecture of segmental duplications inherent to human subtelomeres, no common mechanism has been identified thus far and different nonexclusive recombination-repair mechanisms seem to predominate. In order to gain further insights into the mechanisms of chromosome breakage, repair, and stabilization mediating subtelomeric rearrangements in humans, we investigated the constitutional rearrangements of 1p36. Cloning of the breakpoint junctions in a complex rearrangement and three non-reciprocal translocations revealed similarities at the junctions, such as microhomology of up to three nucleotides, along with no significant sequence identity in close proximity to the breakpoint regions. All the breakpoints appeared to be unique and their occurrence was limited to non-repetitive, unique DNA sequences. Several recombination- or cleavage-associated motifs that may promote non-homologous recombination were observed in close proximity to the junctions. We conclude that NHEJ is likely the mechanism of DNA repair that generates these rearrangements. Additionally, two apparently pure terminal deletions were also investigated, and the refinement of the breakpoint regions identified two distinct genomic intervals ~25-kb apart, each containing a series of 1p36 specific segmental duplications with 90-98% identity. Segmental duplications can serve as substrates for ectopic homologous recombination or stimulate genomic rearrangements. PMID:19271239

  8. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.

    PubMed

    Dennis, Megan Y; Nuttle, Xander; Sudmant, Peter H; Antonacci, Francesca; Graves, Tina A; Nefedov, Mikhail; Rosenfeld, Jill A; Sajjadian, Saba; Malig, Maika; Kotkiewicz, Holland; Curry, Cynthia J; Shafer, Susan; Shaffer, Lisa G; de Jong, Pieter J; Wilson, Richard K; Eichler, Evan E

    2012-05-11

    Gene duplication is an important source of phenotypic change and adaptive evolution. We leverage a haploid hydatidiform mole to identify highly identical sequences missing from the reference genome, confirming that the cortical development gene Slit-Robo Rho GTPase-activating protein 2 (SRGAP2) duplicated three times exclusively in humans. We show that the promoter and first nine exons of SRGAP2 duplicated from 1q32.1 (SRGAP2A) to 1q21.1 (SRGAP2B) ∼3.4 million years ago (mya). Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D) ∼2.4 and ∼1 mya, respectively. Sequence and expression analyses show that SRGAP2C is the most likely duplicate to encode a functional protein and is among the most fixed human-specific duplicate genes. Our data suggest a mechanism where incomplete duplication created a novel gene function-antagonizing parental SRGAP2 function-immediately "at birth" 2-3 mya, which is a time corresponding to the transition from Australopithecus to Homo and the beginning of neocortex expansion. PMID:22559943

  9. Human-specific evolution of novel SRGAP2 genes by incomplete segmental duplication

    PubMed Central

    Dennis, Megan Y.; Nuttle, Xander; Sudmant, Peter H.; Antonacci, Francesca; Graves, Tina A.; Nefedov, Mikhail; Rosenfeld, Jill A.; Sajjadian, Saba; Malig, Maika; Kotkiewicz, Holland; Curry, Cynthia J.; Shafer, Susan; Shaffer, Lisa G.; de Jong, Pieter J.; Wilson, Richard K.; Eichler, Evan E.

    2012-01-01

    SUMMARY Gene duplication is an important source of phenotypic change and adaptive evolution. We use a novel genomic approach to identify highly identical sequence missing from the reference genome, confirming the cortical development gene Slit-Robo Rho GTPase activating protein 2 (SRGAP2) duplicated three times in humans. We show that the promoter and first nine exons of SRGAP2 duplicated from 1q32.1 (SRGAP2A) to 1q21.1 (SRGAP2B) ~3.4 million years ago (mya). Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D), ~2.4 and ~1 mya, respectively. Sequence and expression analysis shows SRGAP2C is the most likely duplicate to encode a functional protein and among the most fixed human-specific duplicate genes. Our data suggest a mechanism where incomplete duplication created a novel function —at birth, antagonizing parental SRGAP2 function 2–3 mya a time corresponding to the transition from Australopithecus to Homo and the beginning of neocortex expansion. PMID:22559943

  10. The large soybean (Glycine max) WRKY TF family expanded by segmental duplication events and subsequent divergent selection among subgroups

    PubMed Central

    2013-01-01

    Background WRKY genes encode one of the most abundant groups of transcription factors in higher plants, and its members regulate important biological process such as growth, development, and responses to biotic and abiotic stresses. Although the soybean genome sequence has been published, functional studies on soybean genes still lag behind those of other species. Results We identified a total of 133 WRKY members in the soybean genome. According to structural features of their encoded proteins and to the phylogenetic tree, the soybean WRKY family could be classified into three groups (groups I, II, and III). A majority of WRKY genes (76.7%; 102 of 133) were segmentally duplicated and 13.5% (18 of 133) of the genes were tandemly duplicated. This pattern was not apparent in Arabidopsis or rice. The transcriptome atlas revealed notable differential expression in either transcript abundance or in expression patterns under normal growth conditions, which indicated wide functional divergence in this family. Furthermore, some critical amino acids were detected using DIVERGE v2.0 in specific comparisons, suggesting that these sites have contributed to functional divergence among groups or subgroups. In addition, site model and branch-site model analyses of positive Darwinian selection (PDS) showed that different selection regimes could have affected the evolution of these groups. Sites with high probabilities of having been under PDS were found in groups I, II c, II e, and III. Together, these results contribute to a detailed understanding of the molecular evolution of the WRKY gene family in soybean. Conclusions In this work, all the WRKY genes, which were generated mainly through segmental duplication, were identified in the soybean genome. Moreover, differential expression and functional divergence of the duplicated WRKY genes were two major features of this family throughout their evolutionary history. Positive selection analysis revealed that the different groups have

  11. [Experimental study on an auditory method for analyzing DNA segments].

    PubMed

    Xiao, Shouzhong; Fang, Xianglin

    2002-01-01

    To explore a new method for analyzing biological molecules that have already been sequenced, an experimental study on an auditory method was carried out. The auditory method for analyzing biological molecules includes audible representation of sequence data. Audible representation of sequence data was implemented by using a multimedia computer. Each mononucleotide in a DNA sequence was matched with a corresponding sound, i.e., a DNA sequence was "dubbed" in a sound sequence. When the sound sequence is played, a special cadence can be heard. In the audible representation experiment, special cadences of different exons can be clearly heard. The results show that audible representation of DNA sequence data can be implemented by using a multimedia technique. After a 5-time auditory training, subjects both in internal testing and external testing can obtain 93%-100% of judgment accuracy rate for the difference between two sound sequences of two different exons, thus providing an experimental basis for the practicability of this method. Auditory method for analyzing DNA segments might be beneficial for the research in comparative genomics and functional genomics. This new technology must be robust and be carefully evaluated and improved in a high-throughput environment before its implementation in an application setting. PMID:11951511

  12. Segmental Duplications Arise from Pol32-Dependent Repair of Broken Forks through Two Alternative Replication-Based Mechanisms

    PubMed Central

    Dujon, Bernard; Fischer, Gilles

    2008-01-01

    The propensity of segmental duplications (SDs) to promote genomic instability is of increasing interest since their involvement in numerous human genomic diseases and cancers was revealed. However, the mechanism(s) responsible for their appearance remain mostly speculative. Here, we show that in budding yeast, replication accidents, which are most likely transformed into broken forks, play a causal role in the formation of SDs. The Pol32 subunit of the major replicative polymerase Polδ is required for all SD formation, demonstrating that SDs result from untimely DNA synthesis rather than from unequal crossing-over. Although Pol32 is known to be required for classical (Rad52-dependant) break-induced replication, only half of the SDs can be attributed to this mechanism. The remaining SDs are generated through a Rad52-independent mechanism of template switching between microsatellites or microhomologous sequences. This new mechanism, named microhomology/microsatellite-induced replication (MMIR), differs from all known DNA double-strand break repair pathways, as MMIR-mediated duplications still occur in the combined absence of homologous recombination, microhomology-mediated, and nonhomologous end joining machineries. The interplay between these two replication-based pathways explains important features of higher eukaryotic genomes, such as the strong, but not strict, association between SDs and transposable elements, as well as the frequent formation of oncogenic fusion genes generating protein innovations at SD junctions. PMID:18773114

  13. Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

    PubMed Central

    Utkus, A.; Sorokina, I.; Kucinskas, V.; Rothlisberger, B.; Balmer, D.; Brecevic, L.; Schinzel, A.

    1999-01-01

    A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13→p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3→p22.1 in the proband. Familial duplication of such a small interstitial segment of 1p has not been reported previously, and the paucity of abnormal physical findings in the proband compared to previous patients with a similar aberration is remarkable. 


Keywords: chromosome duplication 1p; dual colour FISH; unbalanced insertional translocation PMID:9950373

  14. Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1).

    PubMed

    Utkus, A; Sorokina, I; Kucinskas, V; Röthlisberger, B; Balmer, D; Brecevic, L; Schinzel, A

    1999-01-01

    A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13-->p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3-->p22.1 in the proband. Familial duplication of such a small interstitial segment of 1p has not been reported previously, and the paucity of abnormal physical findings in the proband compared to previous patients with a similar aberration is remarkable. PMID:9950373

  15. Integration of physical and genetic maps in apple confirms whole-genome and segmental duplications in the apple genome

    PubMed Central

    Han, Yuepeng; Zheng, Danman; Vimolmangkang, Sornkanok; Khan, Muhammad A.; Beever, Jonathan E.; Korban, Schuyler S.

    2011-01-01

    A total of 355 simple sequence repeat (SSR) markers were developed, based on expressed sequence tag (EST) and bacterial artificial chromosome (BAC)-end sequence databases, and successfully used to construct an SSR-based genetic linkage map of the apple. The consensus linkage map spanned 1143 cM, with an average density of 2.5 cM per marker. Newly developed SSR markers along with 279 SSR markers previously published by the HiDRAS project were further used to integrate physical and genetic maps of the apple using a PCR-based BAC library screening approach. A total of 470 contigs were unambiguously anchored onto all 17 linkage groups of the apple genome, and 158 contigs contained two or more molecular markers. The genetically mapped contigs spanned ∼421 Mb in cumulative physical length, representing 60.0% of the genome. The sizes of anchored contigs ranged from 97 kb to 4.0 Mb, with an average of 995 kb. The average physical length of anchored contigs on each linkage group was ∼24.8 Mb, ranging from 17.0 Mb to 37.73 Mb. Using BAC DNA as templates, PCR screening of the BAC library amplified fragments of highly homologous sequences from homoeologous chromosomes. Upon integrating physical and genetic maps of the apple, the presence of not only homoeologous chromosome pairs, but also of multiple locus markers mapped to adjacent sites on the same chromosome was detected. These findings demonstrated the presence of both genome-wide and segmental duplications in the apple genome and provided further insights into the complex polyploid ancestral origin of the apple. PMID:21743103

  16. Breast tumor segmentation in high resolution x-ray phase contrast analyzer based computed tomography

    SciTech Connect

    Brun, E.; Grandl, S.; Sztrókay-Gaul, A.; Gasilov, S.; Barbone, G.; Mittone, A.; Coan, P.; Bravin, A.

    2014-11-01

    Purpose: Phase contrast computed tomography has emerged as an imaging method, which is able to outperform present day clinical mammography in breast tumor visualization while maintaining an equivalent average dose. To this day, no segmentation technique takes into account the specificity of the phase contrast signal. In this study, the authors propose a new mathematical framework for human-guided breast tumor segmentation. This method has been applied to high-resolution images of excised human organs, each of several gigabytes. Methods: The authors present a segmentation procedure based on the viscous watershed transform and demonstrate the efficacy of this method on analyzer based phase contrast images. The segmentation of tumors inside two full human breasts is then shown as an example of this procedure’s possible applications. Results: A correct and precise identification of the tumor boundaries was obtained and confirmed by manual contouring performed independently by four experienced radiologists. Conclusions: The authors demonstrate that applying the watershed viscous transform allows them to perform the segmentation of tumors in high-resolution x-ray analyzer based phase contrast breast computed tomography images. Combining the additional information provided by the segmentation procedure with the already high definition of morphological details and tissue boundaries offered by phase contrast imaging techniques, will represent a valuable multistep procedure to be used in future medical diagnostic applications.

  17. Comparison of automated segmented-flow and discrete analyzers for the determination of nutrients in water

    USGS Publications Warehouse

    Marti, V.C.; Hale, D.R.

    1981-01-01

    Water samples with specific conductances ranging from 66 to 6950 ??mho/cm at 25 ??C were analyzed for ammonia-N (NH3-N), nitrate plus nitrite-N (NO3 + NO2-N), nitrite-N (NO2-N), and phosphate-P (PO4-P) by using both a "segmented-flow" analyzer and a "discrete" analyzer. Plots of the discrete vs. the segmented-flow results showed linear correlation coefficients of 0.9980 for NH3-N, 0.9997 for NO3 + NO2-N, 0.9998 for NO2-N, and 0.9950 for PO4-P. The significances of the slope and the y intercept of each plot are discussed in terms of possible biases which may exist between the two systems. Data concerning precision and accuracy for both analyzers are presented. For the four analytes, the rate of sample analysis was 60 samples per hour on the discrete analyzer and 40 samples per hour on the segmented-flow analyzer. ?? 1981 American Chemical Society.

  18. Deletions, duplications and transpositions of the COR segment that encompasses the structural gene of yeast iso-1-cytochrome c

    SciTech Connect

    Stiles, J.I.; Friedman, L.R.; Sherman, F.

    1980-01-01

    It has been recently found that a specific chromosomal segment, in certain but not all laboratory strains of Saccharomyces cerevisiae, is deleted and transposed at high frequencies. This segment, denoted COR, encompasses the three closely linked loci CYC1, OSM1 and RAD7 which control iso-1-cytochrome c, osmotic sensitivity and UV-sensitivity, respectively. Two types of apparently normal laboratory strains of yeast designated COR1 and COR2, were uncovered after the examination of the frequencies and types of mutations causing either deficiencies or overproduction of iso-1-cytochrome c; in contrast to COR1 strains which give predominantly point mutations causing deficiencies of iso-1-cytochrome c, COR2 strains give rise to deletions and transpositions of the COR segment. We have undertaken a systematic investigation of the physical structure and genetic properties of the COR region and of the aberrations arising in COR2 strains.

  19. Perm-seq: Mapping Protein-DNA Interactions in Segmental Duplication and Highly Repetitive Regions of Genomes with Prior-Enhanced Read Mapping

    PubMed Central

    Zeng, Xin; Li, Bo; Welch, Rene; Rojo, Constanza; Zheng, Ye; Dewey, Colin N.; Keleş, Sündüz

    2015-01-01

    Segmental duplications and other highly repetitive regions of genomes contribute significantly to cells’ regulatory programs. Advancements in next generation sequencing enabled genome-wide profiling of protein-DNA interactions by chromatin immunoprecipitation followed by high throughput sequencing (ChIP-seq). However, interactions in highly repetitive regions of genomes have proven difficult to map since short reads of 50–100 base pairs (bps) from these regions map to multiple locations in reference genomes. Standard analytical methods discard such multi-mapping reads and the few that can accommodate them are prone to large false positive and negative rates. We developed Perm-seq, a prior-enhanced read allocation method for ChIP-seq experiments, that can allocate multi-mapping reads in highly repetitive regions of the genomes with high accuracy. We comprehensively evaluated Perm-seq, and found that our prior-enhanced approach significantly improves multi-read allocation accuracy over approaches that do not utilize additional data types. The statistical formalism underlying our approach facilitates supervising of multi-read allocation with a variety of data sources including histone ChIP-seq. We applied Perm-seq to 64 ENCODE ChIP-seq datasets from GM12878 and K562 cells and identified many novel protein-DNA interactions in segmental duplication regions. Our analysis reveals that although the protein-DNA interactions sites are evolutionarily less conserved in repetitive regions, they share the overall sequence characteristics of the protein-DNA interactions in non-repetitive regions. PMID:26484757

  20. Perm-seq: Mapping Protein-DNA Interactions in Segmental Duplication and Highly Repetitive Regions of Genomes with Prior-Enhanced Read Mapping.

    PubMed

    Zeng, Xin; Li, Bo; Welch, Rene; Rojo, Constanza; Zheng, Ye; Dewey, Colin N; Keleş, Sündüz

    2015-10-01

    Segmental duplications and other highly repetitive regions of genomes contribute significantly to cells' regulatory programs. Advancements in next generation sequencing enabled genome-wide profiling of protein-DNA interactions by chromatin immunoprecipitation followed by high throughput sequencing (ChIP-seq). However, interactions in highly repetitive regions of genomes have proven difficult to map since short reads of 50-100 base pairs (bps) from these regions map to multiple locations in reference genomes. Standard analytical methods discard such multi-mapping reads and the few that can accommodate them are prone to large false positive and negative rates. We developed Perm-seq, a prior-enhanced read allocation method for ChIP-seq experiments, that can allocate multi-mapping reads in highly repetitive regions of the genomes with high accuracy. We comprehensively evaluated Perm-seq, and found that our prior-enhanced approach significantly improves multi-read allocation accuracy over approaches that do not utilize additional data types. The statistical formalism underlying our approach facilitates supervising of multi-read allocation with a variety of data sources including histone ChIP-seq. We applied Perm-seq to 64 ENCODE ChIP-seq datasets from GM12878 and K562 cells and identified many novel protein-DNA interactions in segmental duplication regions. Our analysis reveals that although the protein-DNA interactions sites are evolutionarily less conserved in repetitive regions, they share the overall sequence characteristics of the protein-DNA interactions in non-repetitive regions. PMID:26484757

  1. Analyzing the medical image by using clustering algorithms through segmentation process

    NASA Astrophysics Data System (ADS)

    Kumar, Papendra; Kumar, Suresh

    2011-12-01

    Basic aim of our study is to analyze the medical image. In computer vision, segmentationRefers to the process of partitioning a digital image into multiple regions. The goal ofSegmentation is to simplify and/or change the representation of an image into something thatIs more meaningful and easier to analyze. Image segmentation is typically used to locateObjects and boundaries (lines, curves, etc.) in images.There is a lot of scope of the analysis that we have done in our project; our analysis couldBe used for the purpose of monitoring the medical image. Medical imaging refers to theTechniques and processes used to create images of the human body (or parts thereof) forClinical purposes (medical procedures seeking to reveal, diagnose or examine disease) orMedical science (including the study of normal anatomy and function).As a discipline and in its widest sense, it is part of biological imaging and incorporatesRadiology (in the wider sense), radiological sciences, endoscopy, (medical) thermography, Medical photography and microscopy (e.g. for human pathological investigations).Measurement and recording techniques which are not primarily designed to produce images.

  2. Analyzing the medical image by using clustering algorithms through segmentation process

    NASA Astrophysics Data System (ADS)

    Kumar, Papendra; Kumar, Suresh

    2012-01-01

    Basic aim of our study is to analyze the medical image. In computer vision, segmentationRefers to the process of partitioning a digital image into multiple regions. The goal ofSegmentation is to simplify and/or change the representation of an image into something thatIs more meaningful and easier to analyze. Image segmentation is typically used to locateObjects and boundaries (lines, curves, etc.) in images.There is a lot of scope of the analysis that we have done in our project; our analysis couldBe used for the purpose of monitoring the medical image. Medical imaging refers to theTechniques and processes used to create images of the human body (or parts thereof) forClinical purposes (medical procedures seeking to reveal, diagnose or examine disease) orMedical science (including the study of normal anatomy and function).As a discipline and in its widest sense, it is part of biological imaging and incorporatesRadiology (in the wider sense), radiological sciences, endoscopy, (medical) thermography, Medical photography and microscopy (e.g. for human pathological investigations).Measurement and recording techniques which are not primarily designed to produce images.

  3. 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

  4. Comparative genetic mapping between duplicated segments on maize chromosomes 3 and 8 and homoeologous regions in sorghum and sugarcane.

    PubMed

    Dufour, P; Grivet, L; D'Hont, A; Deu, M; Trouche, G; Glaszmann, J C; Hamon, P

    1996-06-01

    Comparative mapping within maize, sorghum and sugarcane has previously revealed the existence of syntenic regions between the crops. In the present study, mapping on the sorghum genome of a set of probes previously located on the maize and sugarcane maps allow a detailed analysis of the relationship between maize chromosomes 3 and 8 and sorghum and sugarcane homoeologous regions. Of 49 loci revealed by 46 (4 sugarcane and 42 maize) polymorphic probes in sorghum, 42 were linked and were assigned to linkage groups G (28), E (10) and I (4). On the basis of common probes, a complete co-linearity is observed between sorghum linkage group G and the two sugarcane linkage groups II and III. The comparison between the consensus sorghum/sugarcane map (G/II/III) and the maps of maize chromosomes 3 and 8 reveals a series of linkage blocks within which gene orders are conserved. These blocks are interspersed with non-homoeologous regions corresponding to the central part of the two maize chromosomes and have been reshuffled, resulting in several inversions in maize compared to sorghum and sugarcane. The results emphasize the fact that duplication will considerably complicate precise comparative mapping at the whole genome scale between maize and other Poaceae. PMID:24166631

  5. Analyzing the Subspace Structure of Related Images: Concurrent Segmentation of Image Sets*

    PubMed Central

    Mukherjee, Lopamudra; Singh, Vikas; Xu, Jia; Collins, Maxwell D.

    2013-01-01

    We develop new algorithms to analyze and exploit the joint subspace structure of a set of related images to facilitate the process of concurrent segmentation of a large set of images. Most existing approaches for this problem are either limited to extracting a single similar object across the given image set or do not scale well to a large number of images containing multiple objects varying at different scales. One of the goals of this paper is to show that various desirable properties of such an algorithm (ability to handle multiple images with multiple objects showing arbitary scale variations) can be cast elegantly using simple constructs from linear algebra: this significantly extends the operating range of such methods. While intuitive, this formulation leads to a hard optimization problem where one must perform the image segmentation task together with appropriate constraints which enforce desired algebraic regularity (e.g., common subspace structure). We propose efficient iterative algorithms (with small computational requirements) whose key steps reduce to objective functions solvable by max-flow and/or nearly closed form identities. We study the qualitative, theoretical, and empirical properties of the method, and present results on benchmark datasets. PMID:25267943

  6. [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

  7. 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

  8. 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

  9. 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.

  10. Segments.

    ERIC Educational Resources Information Center

    Zemsky, Robert; Shaman, Susan; Shapiro, Daniel B.

    2001-01-01

    Presents a market taxonomy for higher education, including what it reveals about the structure of the market, the model's technical attributes, and its capacity to explain pricing behavior. Details the identification of the principle seams separating one market segment from another and how student aspirations help to organize the market, making…

  11. A kidney-specific genome-scale metabolic network model for analyzing focal segmental glomerulosclerosis.

    PubMed

    Sohrabi-Jahromi, Salma; Marashi, Sayed-Amir; Kalantari, Shiva

    2016-04-01

    Focal Segmental Glomerulosclerosis (FSGS) is a type of nephrotic syndrome which accounts for 20 and 40 % of such cases in children and adults, respectively. The high prevalence of FSGS makes it the most common primary glomerular disorder causing end-stage renal disease. Although the pathogenesis of this disorder has been widely investigated, the exact mechanism underlying this disease is still to be discovered. Current therapies seek to stop the progression of FSGS and often fail to cure the patients since progression to end-stage renal failure is usually inevitable. In the present work, we use a kidney-specific metabolic network model to study FSGS. The model was obtained by merging two previously published kidney-specific metabolic network models. The validity of the new model was checked by comparing the inactivating reaction genes identified in silico to the list of kidney disease implicated genes. To model the disease state, we used a complete list of FSGS metabolic biomarkers extracted from transcriptome and proteome profiling of patients as well as genetic deficiencies known to cause FSGS. We observed that some specific pathways including chondroitin sulfate degradation, eicosanoid metabolism, keratan sulfate biosynthesis, vitamin B6 metabolism, and amino acid metabolism tend to show variations in FSGS model compared to healthy kidney. Furthermore, we computationally searched for the potential drug targets that can revert the diseased metabolic state to the healthy state. Interestingly, only one drug target, N-acetylgalactosaminidase, was found whose inhibition could alter cellular metabolism towards healthy state. PMID:26923795

  12. 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

  13. Use of Diagnostic Imaging in the Evaluation of Gastrointestinal Tract Duplications

    PubMed Central

    Laskowska, Katarzyna; Gałązka, Przemysław; Daniluk-Matraś, Irena; Leszczyński, Waldemar; Serafin, Zbigniew

    2014-01-01

    Summary Background Gastrointestinal tract duplication is a rare malformation associated with the presence of additional segment of the fetal gut. The aim of this study was to retrospectively review clinical features and imaging findings in intraoperatively confirmed cases of gastrointestinal tract duplication in children. Material/Methods The analysis included own material from the years 2002–2012. The analyzed group included 14 children, among them 8 boys and 6 girls. The youngest patient was diagnosed at the age of three weeks, and the oldest at 12 years of age. Results The duplication cysts were identified in the esophagus (n=2), stomach (n=5), duodenum (n=1), terminal ileum (n=5), and rectum (n=1). In four cases, the duplication coexisted with other anomalies, such as patent urachus, Meckel’s diverticulum, mesenteric cyst, and accessory pancreas. Clinical manifestation of gastrointestinal duplication cysts was variable, and some of them were detected accidently. Thin- or thick-walled cystic structures adjacent to the wall of neighboring gastrointestinal segment were documented on diagnostic imaging. Conclusions Ultrasound and computed tomography are the methods of choice in the evaluation of gastrointestinal duplication cysts. Apart from the diagnosis of the duplication cyst, an important issue is the detection of concomitant developmental pathologies, including pancreatic heterotopy. PMID:25114725

  14. 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

  15. 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

  16. Spinal Cord Segmentation by One Dimensional Normalized Template Matching: A Novel, Quantitative Technique to Analyze Advanced Magnetic Resonance Imaging Data.

    PubMed

    Cadotte, Adam; Cadotte, David W; Livne, Micha; Cohen-Adad, Julien; Fleet, David; Mikulis, David; Fehlings, Michael G

    2015-01-01

    Spinal cord segmentation is a developing area of research intended to aid the processing and interpretation of advanced magnetic resonance imaging (MRI). For example, high resolution three-dimensional volumes can be segmented to provide a measurement of spinal cord atrophy. Spinal cord segmentation is difficult due to the variety of MRI contrasts and the variation in human anatomy. In this study we propose a new method of spinal cord segmentation based on one-dimensional template matching and provide several metrics that can be used to compare with other segmentation methods. A set of ground-truth data from 10 subjects was manually-segmented by two different raters. These ground truth data formed the basis of the segmentation algorithm. A user was required to manually initialize the spinal cord center-line on new images, taking less than one minute. Template matching was used to segment the new cord and a refined center line was calculated based on multiple centroids within the segmentation. Arc distances down the spinal cord and cross-sectional areas were calculated. Inter-rater validation was performed by comparing two manual raters (n = 10). Semi-automatic validation was performed by comparing the two manual raters to the semi-automatic method (n = 10). Comparing the semi-automatic method to one of the raters yielded a Dice coefficient of 0.91 +/- 0.02 for ten subjects, a mean distance between spinal cord center lines of 0.32 +/- 0.08 mm, and a Hausdorff distance of 1.82 +/- 0.33 mm. The absolute variation in cross-sectional area was comparable for the semi-automatic method versus manual segmentation when compared to inter-rater manual segmentation. The results demonstrate that this novel segmentation method performs as well as a manual rater for most segmentation metrics. It offers a new approach to study spinal cord disease and to quantitatively track changes within the spinal cord in an individual case and across cohorts of subjects. PMID:26445367

  17. 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

  18. 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

  19. 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

  20. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

    PubMed Central

    Carvalho, Claudia M.B.; Zhang, Feng; Liu, Pengfei; Patel, Ankita; Sahoo, Trilochan; Bacino, Carlos A.; Shaw, Chad; Peacock, Sandra; Pursley, Amber; Tavyev, Y. Jane; Ramocki, Melissa B.; Nawara, Magdalena; Obersztyn, Ewa; Vianna-Morgante, Angela M.; Stankiewicz, Pawel; Zoghbi, Huda Y.; Cheung, Sau Wai; Lupski, James R.

    2009-01-01

    Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay. Each of the 30 patients analyzed showed a unique duplication varying in size from ∼250 kb to ∼2.6 Mb. Interestingly, in 77% of these non-recurrent duplications, the distal breakpoints grouped within a 215 kb genomic interval, located 47 kb telomeric to the MECP2 gene. The genomic architecture of this region contains both direct and inverted low-copy repeat (LCR) sequences; this same region undergoes polymorphic structural variation in the general population. Array CGH revealed complex rearrangements in eight patients; in six patients the duplication contained an embedded triplicated segment, and in the other two, stretches of non-duplicated sequences occurred within the duplicated region. Breakpoint junction sequencing was achieved in four duplications and identified an inversion in one patient, demonstrating further complexity. We propose that the presence of LCRs in the vicinity of the MECP2 gene may generate an unstable DNA structure that can induce DNA strand lesions, such as a collapsed fork, and facilitate a Fork Stalling and Template Switching event producing the complex rearrangements involving MECP2. PMID:19324899

  1. Ellipsoid Segmentation Model for Analyzing Light-Attenuated 3D Confocal Image Stacks of Fluorescent Multi-Cellular Spheroids

    PubMed Central

    Barbier, Michaël; Jaensch, Steffen; Cornelissen, Frans; Vidic, Suzana; Gjerde, Kjersti; de Hoogt, Ronald; Graeser, Ralph; Gustin, Emmanuel; Chong, Yolanda T.

    2016-01-01

    In oncology, two-dimensional in-vitro culture models are the standard test beds for the discovery and development of cancer treatments, but in the last decades, evidence emerged that such models have low predictive value for clinical efficacy. Therefore they are increasingly complemented by more physiologically relevant 3D models, such as spheroid micro-tumor cultures. If suitable fluorescent labels are applied, confocal 3D image stacks can characterize the structure of such volumetric cultures and, for example, cell proliferation. However, several issues hamper accurate analysis. In particular, signal attenuation within the tissue of the spheroids prevents the acquisition of a complete image for spheroids over 100 micrometers in diameter. And quantitative analysis of large 3D image data sets is challenging, creating a need for methods which can be applied to large-scale experiments and account for impeding factors. We present a robust, computationally inexpensive 2.5D method for the segmentation of spheroid cultures and for counting proliferating cells within them. The spheroids are assumed to be approximately ellipsoid in shape. They are identified from information present in the Maximum Intensity Projection (MIP) and the corresponding height view, also known as Z-buffer. It alerts the user when potential bias-introducing factors cannot be compensated for and includes a compensation for signal attenuation. PMID:27303813

  2. Ellipsoid Segmentation Model for Analyzing Light-Attenuated 3D Confocal Image Stacks of Fluorescent Multi-Cellular Spheroids.

    PubMed

    Barbier, Michaël; Jaensch, Steffen; Cornelissen, Frans; Vidic, Suzana; Gjerde, Kjersti; de Hoogt, Ronald; Graeser, Ralph; Gustin, Emmanuel; Chong, Yolanda T

    2016-01-01

    In oncology, two-dimensional in-vitro culture models are the standard test beds for the discovery and development of cancer treatments, but in the last decades, evidence emerged that such models have low predictive value for clinical efficacy. Therefore they are increasingly complemented by more physiologically relevant 3D models, such as spheroid micro-tumor cultures. If suitable fluorescent labels are applied, confocal 3D image stacks can characterize the structure of such volumetric cultures and, for example, cell proliferation. However, several issues hamper accurate analysis. In particular, signal attenuation within the tissue of the spheroids prevents the acquisition of a complete image for spheroids over 100 micrometers in diameter. And quantitative analysis of large 3D image data sets is challenging, creating a need for methods which can be applied to large-scale experiments and account for impeding factors. We present a robust, computationally inexpensive 2.5D method for the segmentation of spheroid cultures and for counting proliferating cells within them. The spheroids are assumed to be approximately ellipsoid in shape. They are identified from information present in the Maximum Intensity Projection (MIP) and the corresponding height view, also known as Z-buffer. It alerts the user when potential bias-introducing factors cannot be compensated for and includes a compensation for signal attenuation. PMID:27303813

  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. 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

  5. Application of mid-infrared spectroscopy in analyzing different segmented production of Angelica by AB-8 macroporous resin

    NASA Astrophysics Data System (ADS)

    Guo, Yizhen; Wang, Jingjuan; Lu, Lina; Sun, Suqin; Liu, Yang; Xiao, Yao; Qin, Youwen; Xiao, Lijuan; Wen, Haoran; Qu, Lei

    2016-01-01

    As complicated mixture systems, chemical components of Angelica are very difficult to identify and discriminate, so as not to control its quality effectively. In recent years, Mid-infrared spectroscopy has been innovatively employed to identify and assess the quality of Traditional Chinese medicine (TCM) products. In this paper, the macroscopic IR fingerprint method including Fourier transform infrared spectroscopy (FT-IR), the second derivative infrared spectroscopy (SD-IR) and two-dimensional correlation infrared spectroscopy (2D-IR), are applied to study and identify Angelica raw material, the decoction and different segmented production of AB-8 macroporous resin. FT-IR spectrum indicates that Angelica raw material is rich in sucrose and the correlation coefficient is 0.8465. The decoction of Angelica contains varieties of polysaccharides components and the content is gradually decreased with increasing concentration of ethanol. In addition, the decoction of Angelica contains a certain amount of protein components and 50% ethanol eluate has more protein than other eluates. Their second derivative spectra amplify the differences and reveal the potentially characteristic IR absorption bands, then we conclude that the decoction of Angelica contains a certain amount of ferulic acid and ligustilide. And 30% ethanol eluate, 50% ethanol eluate and 70% ethanol eluate are similar to ligustilide. Further, 2D-IR spectra enhance the spectral resolution and obtain much new information for discriminating the similar complicated samples. It is demonstrated that the above three-step infrared spectroscopy could be applicable for effective, visual and accurate analysis and identification of very complicated and similar mixture systems of traditional Chinese medicines.

  6. 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)

  7. 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.

  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. 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

  10. 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)

  11. 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…

  12. 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…

  13. 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…

  14. 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.

  15. 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.

  16. 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.

  17. 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

  18. 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?

  19. 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) .

  20. 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

  1. 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

  2. A family with an inverted tandem duplication 5q22.1q23.2.

    PubMed

    Schmidt, T; Bartels, I; Liehr, T; Burfeind, P; Zoll, B; Shoukier, M

    2013-01-01

    Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated by multicolor-fluorescence in situ hybridization, the duplicated segment was orientated in an inverted tandem manner. One of the 2 older half-brothers of the index patient was intellectually disabled and showed short stature as well. The mother of the siblings was only 149 cm in height. The affected half-brother as well as the mother of the siblings were tested positive for the same duplication. Duplications of the long arm of chromosome 5 are rare. There are 16 reported cases of different 5q segments with a pure duplication and no additional chromosomal imbalance. In order to refine the 5q-duplication phenotype, reported cases were recently classified in 3 groups on the basis of clinical findings and the involved chromosome segments. However, our case does not fit in any of these groups but is placed in the interjacent chromosomal area between 2 of these groups. Overall, this is the second reported family with a duplication of 5q22.1q23.2 and both families share phenotypic features like short stature, facial dysmorphic signs and speech delay. The reported family provides further information for delineating phenotype-genotype correlations of pure duplications of the 5q region. PMID:23051634

  3. 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

  4. 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.

  5. 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.

  6. A multi-directional and multi-scale roughness filter to detect lineament segments on digital elevation models - analyzing spatial objects in R

    NASA Astrophysics Data System (ADS)

    Baumann, Sebastian; Robl, Jörg; Wendt, Lorenz; Willingshofer, Ernst; Hilberg, Sylke

    2016-04-01

    Automated lineament analysis on remotely sensed data requires two general process steps: The identification of neighboring pixels showing high contrast and the conversion of these domains into lines. The target output is the lineaments' position, extent and orientation. We developed a lineament extraction tool programmed in R using digital elevation models as input data to generate morphological lineaments defined as follows: A morphological lineament represents a zone of high relief roughness, whose length significantly exceeds the width. As relief roughness any deviation from a flat plane, defined by a roughness threshold, is considered. In our novel approach a multi-directional and multi-scale roughness filter uses moving windows of different neighborhood sizes to identify threshold limited rough domains on digital elevation models. Surface roughness is calculated as the vertical elevation difference between the center cell and the different orientated straight lines connecting two edge cells of a neighborhood, divided by the horizontal distance of the edge cells. Thus multiple roughness values depending on the neighborhood sizes and orientations of the edge connecting lines are generated for each cell and their maximum and minimum values are extracted. Thereby negative signs of the roughness parameter represent concave relief structures as valleys, positive signs convex relief structures as ridges. A threshold defines domains of high relief roughness. These domains are thinned to a representative point pattern by a 3x3 neighborhood filter, highlighting maximum and minimum roughness peaks, and representing the center points of lineament segments. The orientation and extent of the lineament segments are calculated within the roughness domains, generating a straight line segment in the direction of least roughness differences. We tested our algorithm on digital elevation models of multiple sources and scales and compared the results visually with shaded relief map

  7. 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

  8. 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.

  9. Intron gain by tandem genomic duplication: a novel case in a potato gene encoding RNA-dependent RNA polymerase.

    PubMed

    Ma, Ming-Yue; Lan, Xin-Ran; Niu, Deng-Ke

    2016-01-01

    The origin and subsequent accumulation of spliceosomal introns are prominent events in the evolution of eukaryotic gene structure. However, the mechanisms underlying intron gain remain unclear because there are few proven cases of recently gained introns. In an RNA-dependent RNA polymerase (RdRp) gene, we found that a tandem duplication occurred after the divergence of potato and its wild relatives among other Solanum plants. The duplicated sequence crosses the intron-exon boundary of the first intron and the second exon. A new intron was detected at this duplicated region, and it includes a small previously exonic segment of the upstream copy of the duplicated sequence and the intronic segment of the downstream copy of the duplicated sequence. The donor site of this new intron was directly obtained from the small previously exonic segment. Most of the splicing signals were inherited directly from the parental intron/exon structure, including a putative branch site, the polypyrimidine tract, the 3' splicing site, two putative exonic splicing enhancers, and the GC contents differed between the intron and exon. In the widely cited model of intron gain by tandem genomic duplication, the duplication of an AGGT-containing exonic segment provides the GT and AG splicing sites for the new intron. Our results illustrate that the tandem duplication model of intron gain should be diverse in terms of obtaining the proper splicing signals. PMID:27547574

  10. Intron gain by tandem genomic duplication: a novel case in a potato gene encoding RNA-dependent RNA polymerase

    PubMed Central

    Ma, Ming-Yue; Lan, Xin-Ran

    2016-01-01

    The origin and subsequent accumulation of spliceosomal introns are prominent events in the evolution of eukaryotic gene structure. However, the mechanisms underlying intron gain remain unclear because there are few proven cases of recently gained introns. In an RNA-dependent RNA polymerase (RdRp) gene, we found that a tandem duplication occurred after the divergence of potato and its wild relatives among other Solanum plants. The duplicated sequence crosses the intron-exon boundary of the first intron and the second exon. A new intron was detected at this duplicated region, and it includes a small previously exonic segment of the upstream copy of the duplicated sequence and the intronic segment of the downstream copy of the duplicated sequence. The donor site of this new intron was directly obtained from the small previously exonic segment. Most of the splicing signals were inherited directly from the parental intron/exon structure, including a putative branch site, the polypyrimidine tract, the 3′ splicing site, two putative exonic splicing enhancers, and the GC contents differed between the intron and exon. In the widely cited model of intron gain by tandem genomic duplication, the duplication of an AGGT-containing exonic segment provides the GT and AG splicing sites for the new intron. Our results illustrate that the tandem duplication model of intron gain should be diverse in terms of obtaining the proper splicing signals. PMID:27547574

  11. Segment alignment control system

    NASA Technical Reports Server (NTRS)

    Aubrun, JEAN-N.; Lorell, Ken R.

    1988-01-01

    The segmented primary mirror for the LDR will require a special segment alignment control system to precisely control the orientation of each of the segments so that the resulting composite reflector behaves like a monolith. The W.M. Keck Ten Meter Telescope will utilize a primary mirror made up of 36 actively controlled segments. Thus the primary mirror and its segment alignment control system are directly analogous to the LDR. The problems of controlling the segments in the face of disturbances and control/structures interaction, as analyzed for the TMT, are virtually identical to those for the LDR. The two systems are briefly compared.

  12. 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…

  13. Phylogenetic detection of numerous gene duplications shared by animals, fungi and plants

    PubMed Central

    2010-01-01

    Background Gene duplication is considered a major driving force for evolution of genetic novelty, thereby facilitating functional divergence and organismal diversity, including the process of speciation. Animals, fungi and plants are major eukaryotic kingdoms and the divergences between them are some of the most significant evolutionary events. Although gene duplications in each lineage have been studied extensively in various contexts, the extent of gene duplication prior to the split of plants and animals/fungi is not clear. Results Here, we have studied gene duplications in early eukaryotes by phylogenetic relative dating. We have reconstructed gene families (with one or more orthogroups) with members from both animals/fungi and plants by using two different clustering strategies. Extensive phylogenetic analyses of the gene families show that, among nearly 2,600 orthogroups identified, at least 300 of them still retain duplication that occurred before the divergence of the three kingdoms. We further found evidence that such duplications were also detected in some highly divergent protists, suggesting that these duplication events occurred in the ancestors of most major extant eukaryotic groups. Conclusions Our phylogenetic analyses show that numerous gene duplications happened at the early stage of eukaryotic evolution, probably before the separation of known major eukaryotic lineages. We discuss the implication of our results in the contexts of different models of eukaryotic phylogeny. One possible explanation for the large number of gene duplication events is one or more large-scale duplications, possibly whole genome or segmental duplication(s), which provides a genomic basis for the successful radiation of early eukaryotes. PMID:20370904

  14. Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q

    SciTech Connect

    Koiffmann, C.P.; Vianna-Morgante, A.M.; Wajntal, A.

    1995-07-31

    Deletion 11q23{r_arrow}qter and duplication 12q23{r_arrow}qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23{r_arrow}24 in the cause of the neuroblastoma is discussed. 18 refs., 2 figs., 1 tab.

  15. De novo interstitial tandem duplication of chromosome 4(q21-q28)

    SciTech Connect

    Navarro, E.G.; Ramon, F.J.H.; Jimenez, R.D.

    1996-03-29

    We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q. 12 refs., 3 figs., 1 tab.

  16. 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…

  17. 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

  18. 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...

  19. 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.

  20. beta. amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome

    SciTech Connect

    Delabar, J.; Goldgaber, D.; Lamour, Y.; Nicole, A.; Huret, J.; De Groucy, J.; Brown, P.; Gajdusek, D.C.; Sinet, P.

    1987-03-13

    With the recently cloned complementary DNA probe, lambdaAm4 for the chromosome 21 gene encoding brain amyloid polypeptide (..beta.. amyloid protein) of Alzheimer's disease, leukocyte DNA from three patients with sporadic Alzheimer's disease and two patients with karyotypically normal Down syndrome was found to contain three copies of this bene. Because a small region of chromosome 21 containing the ets-2 gene is duplicated in patients with Alzheimer's disease, as well as in karyotypically normal Down syndrome, duplication of a subsection of the critical segment of chromosome 21 that is duplicated in Down syndrome may be the genetic defect in Alzeimer's disease.

  1. Analysis of the DNA sequence and duplication history of human chromosome 15.

    PubMed

    Zody, Michael C; Garber, Manuel; Sharpe, Ted; Young, Sarah K; Rowen, Lee; O'Neill, Keith; Whittaker, Charles A; Kamal, Michael; Chang, Jean L; Cuomo, Christina A; Dewar, Ken; FitzGerald, Michael G; Kodira, Chinnappa D; Madan, Anup; Qin, Shizhen; Yang, Xiaoping; Abbasi, Nissa; Abouelleil, Amr; Arachchi, Harindra M; Baradarani, Lida; Birditt, Brian; Bloom, Scott; Bloom, Toby; Borowsky, Mark L; Burke, Jeremy; Butler, Jonathan; Cook, April; DeArellano, Kurt; DeCaprio, David; Dorris, Lester; Dors, Monica; Eichler, Evan E; Engels, Reinhard; Fahey, Jessica; Fleetwood, Peter; Friedman, Cynthia; Gearin, Gary; Hall, Jennifer L; Hensley, Grace; Johnson, Ericka; Jones, Charlien; Kamat, Asha; Kaur, Amardeep; Locke, Devin P; Madan, Anuradha; Munson, Glen; Jaffe, David B; Lui, Annie; Macdonald, Pendexter; Mauceli, Evan; Naylor, Jerome W; Nesbitt, Ryan; Nicol, Robert; O'Leary, Sinéad B; Ratcliffe, Amber; Rounsley, Steven; She, Xinwei; Sneddon, Katherine M B; Stewart, Sandra; Sougnez, Carrie; Stone, Sabrina M; Topham, Kerri; Vincent, Dascena; Wang, Shunguang; Zimmer, Andrew R; Birren, Bruce W; Hood, Leroy; Lander, Eric S; Nusbaum, Chad

    2006-03-30

    Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome. PMID:16572171

  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. 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.

  4. Spider Transcriptomes Identify Ancient Large-Scale Gene Duplication Event Potentially Important in Silk Gland Evolution.

    PubMed

    Clarke, Thomas H; Garb, Jessica E; Hayashi, Cheryl Y; Arensburger, Peter; Ayoub, Nadia A

    2015-07-01

    The evolution of specialized tissues with novel functions, such as the silk synthesizing glands in spiders, is likely an influential driver of adaptive success. Large-scale gene duplication events and subsequent paralog divergence are thought to be required for generating evolutionary novelty. Such an event has been proposed for spiders, but not tested. We de novo assembled transcriptomes from three cobweb weaving spider species. Based on phylogenetic analyses of gene families with representatives from each of the three species, we found numerous duplication events indicative of a whole genome or segmental duplication. We estimated the age of the gene duplications relative to several speciation events within spiders and arachnids and found that the duplications likely occurred after the divergence of scorpions (order Scorpionida) and spiders (order Araneae), but before the divergence of the spider suborders Mygalomorphae and Araneomorphae, near the evolutionary origin of spider silk glands. Transcripts that are expressed exclusively or primarily within black widow silk glands are more likely to have a paralog descended from the ancient duplication event and have elevated amino acid replacement rates compared with other transcripts. Thus, an ancient large-scale gene duplication event within the spider lineage was likely an important source of molecular novelty during the evolution of silk gland-specific expression. This duplication event may have provided genetic material for subsequent silk gland diversification in the true spiders (Araneomorphae). PMID:26058392

  5. Spider Transcriptomes Identify Ancient Large-Scale Gene Duplication Event Potentially Important in Silk Gland Evolution

    PubMed Central

    Clarke, Thomas H.; Garb, Jessica E.; Hayashi, Cheryl Y.; Arensburger, Peter; Ayoub, Nadia A.

    2015-01-01

    The evolution of specialized tissues with novel functions, such as the silk synthesizing glands in spiders, is likely an influential driver of adaptive success. Large-scale gene duplication events and subsequent paralog divergence are thought to be required for generating evolutionary novelty. Such an event has been proposed for spiders, but not tested. We de novo assembled transcriptomes from three cobweb weaving spider species. Based on phylogenetic analyses of gene families with representatives from each of the three species, we found numerous duplication events indicative of a whole genome or segmental duplication. We estimated the age of the gene duplications relative to several speciation events within spiders and arachnids and found that the duplications likely occurred after the divergence of scorpions (order Scorpionida) and spiders (order Araneae), but before the divergence of the spider suborders Mygalomorphae and Araneomorphae, near the evolutionary origin of spider silk glands. Transcripts that are expressed exclusively or primarily within black widow silk glands are more likely to have a paralog descended from the ancient duplication event and have elevated amino acid replacement rates compared with other transcripts. Thus, an ancient large-scale gene duplication event within the spider lineage was likely an important source of molecular novelty during the evolution of silk gland-specific expression. This duplication event may have provided genetic material for subsequent silk gland diversification in the true spiders (Araneomorphae). PMID:26058392

  6. 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

  7. 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...

  8. 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.

  9. 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

  10. [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

  11. Determining recreational, scenic, and historical-cultural potentials of landscape features along a segment of the ancient Silk Road using factor analyzing.

    PubMed

    Kurdoglu, Oguz; Kurdoglu, Banu Cicek

    2010-11-01

    Generally, roads are structures connecting areas of special importance to each other (e.g., from urban areas to villages). In addition to functioning as transportation mediums, roads have aesthetic qualities by means of their recreational, scenic, and cultural functions. One of these unexplored roads, the Trabzon-Gümüşhane old state highway in the Northeast Turkey, the subject of this study, is quite unique for being a part of the historical Silk Road. The aim of the study is to determine the recreational, scenic, and cultural potentials of this road and to identify the landscape qualities based on these potentials. After dividing the road into three sections for comparison purposes, data gathered from basic digital maps obtained from The General Directorate of Rural Services (the governmental agency that is responsible for producing such digital maps) and field trips were entered into maps using geographic information system followed by creating demonstration films using photographs and video camera images of the natural and cultural characteristics of the area. Then, these films were evaluated by an expert team to identify the road's recreational, scenic, and cultural potentials. The results of the evaluation process, the relationships between determined landscape characteristics for each function, and the contribution scores of different functions assigned for the artificial features were statistically analyzed. The analyses showed a very strong relationship between the sections and the contribution scores of the recreation and the scenic functions. The results of these analyses also revealed some landscape characteristics having high contribution values for all the functions. This, in turn, helped in determining a potential of the study area to become a greenway. PMID:19862635

  12. Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution.

    PubMed

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome. PMID:12032571

  13. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 11 unrelated subjects. Notably, only two brea...

  14. 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.

  15. Hox gene duplications correlate with posterior heteronomy in scorpions

    PubMed Central

    Sharma, Prashant P.; Schwager, Evelyn E.; Extavour, Cassandra G.; Wheeler, Ward C.

    2014-01-01

    The evolutionary success of the largest animal phylum, Arthropoda, has been attributed to tagmatization, the coordinated evolution of adjacent metameres to form morphologically and functionally distinct segmental regions called tagmata. Specification of regional identity is regulated by the Hox genes, of which 10 are inferred to be present in the ancestor of arthropods. With six different posterior segmental identities divided into two tagmata, the bauplan of scorpions is the most heteronomous within Chelicerata. Expression domains of the anterior eight Hox genes are conserved in previously surveyed chelicerates, but it is unknown how Hox genes regionalize the three tagmata of scorpions. Here, we show that the scorpion Centruroides sculpturatus has two paralogues of all Hox genes except Hox3, suggesting cluster and/or whole genome duplication in this arachnid order. Embryonic anterior expression domain boundaries of each of the last four pairs of Hox genes (two paralogues each of Antp, Ubx, abd-A and Abd-B) are unique and distinguish segmental groups, such as pectines, book lungs and the characteristic tail, while maintaining spatial collinearity. These distinct expression domains suggest neofunctionalization of Hox gene paralogues subsequent to duplication. Our data reconcile previous understanding of Hox gene function across arthropods with the extreme heteronomy of scorpions. PMID:25122224

  16. Comparative genomic hybridization: Detection of segmental aneusomies

    SciTech Connect

    Cronin, J.E.; Magrane, G.G.; Gray, J.W.

    1994-09-01

    Comparative genomic hybridization (CGH) has been used successfully to detect whole chromosome and segmental aneusomies. However, its sensitivity for detection of segmental aneusomies is still not well known. We present here an analysis of CGH sensitivity with emphasis on detection of abnormalities commonly found during pre-and neo-natal diagnosis. CGH is performed by hybridizing green and red fluorescing test and normal DNA samples, respectively, to normal metaphase spreads and measuring green:red fluorescence ratios along all chromosomes. The ratios are normalized such that 2 copies of a normal chromosome region in the test sample gives a ratio of 1.0. Alterations in test vs. control gene copy number range from 1.5 [trisomy] to 0.5 [monosomy]. Clinical samples analyzed included Wolf Hirschhorn (4p-), Cri du Chat (5p-) and DiGeorge (22q-). In addition, 7 cell lines with chromosome 21 segmental aneusomies were analyzed. These included 3 with terminal duplications, 1 with a terminal deletion, 1 with an interstitial deletion and 2 with interstitial amplifications. The DiGeorge deletion was the only deletion not deleted by CGH. This is not surprising as standard G banding does not routinely detect this 1-2 megabase deletion. The 4p- and 5p- monosomies were detected and breakpoints correctly assigned prospectively. Proximal alterations involving 21q22.11 are unambiguously defined. Specifically, two interstitial aneusomies involving this region are detected. Studies involving late prophase chromosome normal spreads gave identical breakpoints. Thus, analysis of extended chromosomes did not improve the sensitivity of the technique. Taken together, these data suggest that CGH can detect segmental aneusomies greater than 8 megabases in extent. Smaller aneusomies can, at times, be detected. Work is now underway to modify the analysis software to increase sensitivity and to decrease the amount of material needed for analysis.

  17. Generation of Tandem Direct Duplications by Reversed-Ends Transposition of Maize Ac Elements

    PubMed Central

    Peterson, Thomas

    2013-01-01

    Tandem direct duplications are a common feature of the genomes of eukaryotes ranging from yeast to human, where they comprise a significant fraction of copy number variations. The prevailing model for the formation of tandem direct duplications is non-allelic homologous recombination (NAHR). Here we report the isolation of a series of duplications and reciprocal deletions isolated de novo from a maize allele containing two Class II Ac/Ds transposons. The duplication/deletion structures suggest that they were generated by alternative transposition reactions involving the termini of two nearby transposable elements. The deletion/duplication breakpoint junctions contain 8 bp target site duplications characteristic of Ac/Ds transposition events, confirming their formation directly by an alternative transposition mechanism. Tandem direct duplications and reciprocal deletions were generated at a relatively high frequency (∼0.5 to 1%) in the materials examined here in which transposons are positioned nearby each other in appropriate orientation; frequencies would likely be much lower in other genotypes. To test whether this mechanism may have contributed to maize genome evolution, we analyzed sequences flanking Ac/Ds and other hAT family transposons and identified three small tandem direct duplications with the structural features predicted by the alternative transposition mechanism. Together these results show that some class II transposons are capable of directly inducing tandem sequence duplications, and that this activity has contributed to the evolution of the maize genome. PMID:23966872

  18. Adaptive Evolution of Genes Duplicated from the Drosophila pseudoobscura neo-X Chromosome

    PubMed Central

    Meisel, Richard P.; Hilldorfer, Benedict B.; Koch, Jessica L.; Lockton, Steven; Schaeffer, Stephen W.

    2010-01-01

    Drosophila X chromosomes are disproportionate sources of duplicated genes, and these duplications are usually the result of retrotransposition of X-linked genes to the autosomes. The excess duplication is thought to be driven by natural selection for two reasons: X chromosomes are inactivated during spermatogenesis, and the derived copies of retroposed duplications tend to be testis expressed. Therefore, autosomal derived copies of retroposed genes provide a mechanism for their X-linked paralogs to “escape” X inactivation. Once these duplications have fixed, they may then be selected for male-specific functions. Throughout the evolution of the Drosophila genus, autosomes have fused with X chromosomes along multiple lineages giving rise to neo-X chromosomes. There has also been excess duplication from the two independent neo-X chromosomes that have been examined—one that occurred prior to the common ancestor of the willistoni species group and another that occurred along the lineage leading to Drosophila pseudoobscura. To determine what role natural selection plays in the evolution of genes duplicated from the D. pseudoobscura neo-X chromosome, we analyzed DNA sequence divergence between paralogs, polymorphism within each copy, and the expression profiles of these duplicated genes. We found that the derived copies of all duplicated genes have elevated nonsynonymous polymorphism, suggesting that they are under relaxed selective constraints. The derived copies also tend to have testis- or male-biased expression profiles regardless of their chromosome of origin. Genes duplicated from the neo-X chromosome appear to be under less constraints than those duplicated from other chromosome arms. We also find more evidence for historical adaptive evolution in genes duplicated from the neo-X chromosome, suggesting that they are under a unique selection regime in which elevated nonsynonymous polymorphism provides a large reservoir of functional variants, some of which are

  19. 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

  20. An integrative segmentation method for detecting germline copy number variations in SNP arrays.

    PubMed

    Shi, Jianxin; Li, Peng

    2012-05-01

    Germline copy number variations (CNVs) are a major source of genetic variation in humans. In large-scale studies of complex diseases, CNVs are usually detected from data generated by single nucleotide polymorphism (SNP) genotyping arrays. In this paper, we develop an integrative segmentation method, SegCNV, for detecting CNVs integrating both log R ratio (LRR) and B allele frequency (BAF). Based on simulation studies, SegCNV had modestly better power to detect deletions and substantially better power to detect duplications compared with circular binary segmentation (CBS) that relies purely on LRRs; and it had better power to detect deletions and a comparable performance to detect duplications compared with PennCNV and QuantiSNP. In two Hapmap subjects with deep sequence data available as a gold standard, SegCNV detected more true short deletions than PennCNV and QuantiSNP. For 21 short duplications validated experimentally in the AGRE dataset, SegCNV, QuantiSNP, and PennCNV detected all of them while CBS detected only three. SegCNV is much faster than the HMM-based (where HMM is hidden Markov model) methods, taking only several seconds to analyze genome-wide data for one subject. PMID:22539397

  1. 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

  2. Duplication of OsHAP family genes and their association with heading date in rice

    PubMed Central

    Li, Qiuping; Yan, Wenhao; Chen, Huaxia; Tan, Cong; Han, Zhongmin; Yao, Wen; Li, Guangwei; Yuan, Mengqi; Xing, Yongzhong

    2016-01-01

    Heterotrimeric Heme Activator Protein (HAP) family genes are involved in the regulation of flowering in plants. It is not clear how many HAP genes regulate heading date in rice. In this study, we identified 35 HAP genes, including seven newly identified genes, and performed gene duplication and candidate gene-based association analyses. Analyses showed that segmental duplication and tandem duplication are the main mechanisms of HAP gene duplication. Expression profiling and functional identification indicated that duplication probably diversifies the functions of HAP genes. A nucleotide diversity analysis revealed that 13 HAP genes underwent selection. A candidate gene-based association analysis detected four HAP genes related to heading date. An investigation of transgenic plants or mutants of 23 HAP genes confirmed that overexpression of at least four genes delayed heading date under long-day conditions, including the previously cloned Ghd8/OsHAP3H. Our results indicate that the large number of HAP genes in rice was mainly produced by gene duplication, and a few HAP genes function to regulate heading date. Selection of HAP genes is probably caused by their diverse functions rather than regulation of heading. PMID:26798026

  3. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

    PubMed Central

    2012-01-01

    Background Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show complete skewing of X-inactivation in peripheral blood and an apparent susceptibility to specific personality traits or neuropsychiatric symptoms. Methods We describe the clinical phenotype of a pedigree segregating a duplication of MECP2 found on clinical array comparative genomic hybridization. The position, size, and extent of the duplication were delineated in peripheral blood samples from affected individuals using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization, as well as targeted high-resolution oligonucleotide microarray analysis and long-range PCR. The molecular consequences of the rearrangement were studied in lymphoblast cell lines using quantitative real-time PCR, reverse transcriptase PCR, and western blot analysis. Results We observed a partial MECP2 duplication in an adult male with epilepsy and mild neurocognitive impairment who was able to function independently; this phenotype has not previously been reported among males harboring gains in MECP2 copy number. The same duplication was inherited by this individual’s daughter who was also affected with neurocognitive impairment and epilepsy and carried an additional copy-number variant. The duplicated segment involved all four exons of MECP2, but excluded almost the entire 3' untranslated region (UTR), and the genomic rearrangement resulted in a MECP2-TEX28 fusion gene mRNA transcript. Increased expression of MECP2 and the resulting fusion gene were both confirmed; however, western blot analysis of lysates from lymphoblast cells demonstrated increased MeCP2 protein without evidence of a stable fusion gene protein product. Conclusion The observations of a mildly affected adult male with a MECP2 duplication and

  4. A Sensitive Method for Detecting Variation in Copy Numbers of Duplicated Genes

    PubMed Central

    Pielberg, Gerli; Day, Andy E.; Plastow, Graham S.; Andersson, Leif

    2003-01-01

    Gene duplications are common in the vertebrate genome, and duplicated loci often show a variation in copy number that may have important phenotypic effects. Here we describe a powerful method for quantification of duplicated copies based on pyrosequencing. A reliable quantification was obtained by amplification of the duplication break-point and a corresponding nonduplicated sequence in a competitive PCR assay. A comparison with an independent method for quantification based on the Invader technology revealed an excellent correlation between the two methods. The pyrosequencing-based method was evaluated by analyzing variation in copy number at the duplicated KIT/Dominant white locus in pigs. We were able to distinguish haplotypes at this locus by combining the duplication breakpoint test with a diagnostic test for a functionally important splice mutation in the duplicated gene. An extensive allelic variation, including the presence of a new allele carrying a single KIT copy expected to encode a truncated KIT receptor, was revealed when analyzing white pigs from commercial lines. PMID:12952884

  5. Duplicate gene divergence by changes in microRNA binding sites in Arabidopsis and Brassica.

    PubMed

    Wang, Sishuo; Adams, Keith L

    2015-03-01

    Gene duplication provides large numbers of new genes that can lead to the evolution of new functions. Duplicated genes can diverge by changes in sequences, expression patterns, and functions. MicroRNAs play an important role in the regulation of gene expression in many eukaryotes. After duplication, two paralogs may diverge in their microRNA binding sites, which might impact their expression and function. Little is known about conservation and divergence of microRNA binding sites in duplicated genes in plants. We analyzed microRNA binding sites in duplicated genes in Arabidopsis thaliana and Brassica rapa. We found that duplicates are more often targeted by microRNAs than singletons. The vast majority of duplicated genes in A. thaliana with microRNA binding sites show divergence in those sites between paralogs. Analysis of microRNA binding sites in genes derived from the ancient whole-genome triplication in B. rapa also revealed extensive divergence. Paralog pairs with divergent microRNA binding sites show more divergence in expression patterns compared with paralog pairs with the same microRNA binding sites in Arabidopsis. Close to half of the cases of binding site divergence are caused by microRNAs that are specific to the Arabidopsis genus, indicating evolutionarily recent gain of binding sites after target gene duplication. We also show rapid evolution of microRNA binding sites in a jacalin gene family. Our analyses reveal a dynamic process of changes in microRNA binding sites after gene duplication in Arabidopsis and highlight the role of microRNA regulation in the divergence and contrasting evolutionary fates of duplicated genes. PMID:25644246

  6. 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

  7. 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.

  8. Segmental neurofibromatosis.

    PubMed

    Galhotra, Virat; Sheikh, Soheyl; Jindal, Sanjeev; Singla, Anshu

    2014-07-01

    Segmental neurofibromatosis is a rare disorder, characterized by neurofibromas or cafι-au-lait macules limited to one region of the body. Its occurrence on the face is extremely rare and only few cases of segmental neurofibromatosis over the face have been described so far. We present a case of segmental neurofibromatosis involving the buccal mucosa, tongue, cheek, ear, and neck on the right side of the face. PMID:25565748

  9. 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

  10. 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.

  11. NASA wide electronic publishing system: Electronic printing and duplicating. Stage 3 evaluation report

    NASA Technical Reports Server (NTRS)

    Tuey, Richard C.; Moore, Fred W.; Ryan, Christine A.

    1995-01-01

    The report is presented in four sections: The Introduction describes the duplicating configuration under evaluation and the Background contains a chronological description of the evaluation segmented by phases 1 and 2. This section includes the evaluation schedule, printing and duplicating requirements, storage and communication requirements, electronic publishing system configuration, existing processes and proposed processes, billing rates, costs and productivity analysis, and the return on investment based upon the data gathered to date. The third section contains the phase 1 comparative cost and productivity analysis. This analysis demonstrated that LaRC should proceed with a 90-day evaluation of the DocuTech and follow with a phase 2 cycle to actually demonstrate that the proposed system would meet the needs of LaRC's printing and duplicating requirements, benchmark results, cost comparisons, benchmark observations, and recommendations. These are documented after the recommendations.

  12. 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.

  13. 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

  14. 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.

  15. 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

  16. Segmental neurofibromatosis.

    PubMed

    Toy, Brian

    2003-10-01

    Segmental neurofibromatosis is a rare variant of neurofibromatosis in which skin lesions are confined to a circumscribed body segment. A case of a 72-year-old woman with this condition is presented. Clinical features and genetic evidence are reviewed. PMID:14594599

  17. Active Segmentation

    PubMed Central

    Mishra, Ajay; Aloimonos, Yiannis

    2009-01-01

    The human visual system observes and understands a scene/image by making a series of fixations. Every fixation point lies inside a particular region of arbitrary shape and size in the scene which can either be an object or just a part of it. We define as a basic segmentation problem the task of segmenting that region containing the fixation point. Segmenting the region containing the fixation is equivalent to finding the enclosing contour- a connected set of boundary edge fragments in the edge map of the scene - around the fixation. This enclosing contour should be a depth boundary. We present here a novel algorithm that finds this bounding contour and achieves the segmentation of one object, given the fixation. The proposed segmentation framework combines monocular cues (color/intensity/texture) with stereo and/or motion, in a cue independent manner. The semantic robots of the immediate future will be able to use this algorithm to automatically find objects in any environment. The capability of automatically segmenting objects in their visual field can bring the visual processing to the next level. Our approach is different from current approaches. While existing work attempts to segment the whole scene at once into many areas, we segment only one image region, specifically the one containing the fixation point. Experiments with real imagery collected by our active robot and from the known databases 1 demonstrate the promise of the approach. PMID:20686671

  18. [Unequal crossing over in Escherichia coli: genetic and physical mapping of duplications isolated in conjugational matings].

    PubMed

    Sukhodolets, V V; Dukhiĭ, D E

    1996-01-01

    We previously demonstrated that stable heterozygous duplications deoA deoB :: Tn5/deoC deoD can be isolated among Deo+ recombinants obtained in conjugational matings between Escherichia coli strains HfrH deoA deoB :: Tn5 and HfrH deoC deoD. In this work, 30 duplications were tested by transduction for the inclusion of a set of genetic markers adjoining the deo operon (99.5 min) at the genetic map of E. coli: cycA :: Tn10 (96 min), zji :: Tn10 (98.2 min), thr :: Tn9 (100/0 min), car :: Tn10 (1 min), leu :: Tn9 (2 min), and proAB :: Tn10 (6 min). The results obtained indicate that only three out of 30 duplications could have originated from unequal crossing over between the rrn operons. In eight strains, duplications were chosen for physical mapping by the use of Not I restriction, pulsed-field electrophoresis, and Southern blot hybridization with DNA of the deo operon. In all these strains, the presence of duplications (once a triplication) was confirmed by corresponding changes in the set of Not I digests, although some strains had additional genetic rearrangements. The order of operon copies in a tandem was determined, and the length of a duplicated chromosomal segment was calculated as equal to 25, 46, 80, 150.5, and 175 kb in duplication D49, D4, D5, D9, and D18, respectively. Thus, the use of the conjugational Hfr x Hfr system allows the generation of unique rearrangements of the E. coli genetic material. PMID:8647423

  19. The sea lamprey meiotic map improves resolution of ancient vertebrate genome duplications

    PubMed Central

    Smith, Jeramiah J.; Keinath, Melissa C.

    2015-01-01

    It is generally accepted that many genes present in vertebrate genomes owe their origin to two whole-genome duplications that occurred deep in the ancestry of the vertebrate lineage. However, details regarding the timing and outcome of these duplications are not well resolved. We present high-density meiotic and comparative genomic maps for the sea lamprey (Petromyzon marinus), a representative of an ancient lineage that diverged from all other vertebrates ∼550 million years ago. Linkage analyses yielded a total of 95 linkage groups, similar to the estimated number of germline chromosomes (1n ∼ 99), spanning a total of 5570.25 cM. Comparative mapping data yield strong support for the hypothesis that a single whole-genome duplication occurred in the basal vertebrate lineage, but do not strongly support a hypothetical second event. Rather, these comparative maps reveal several evolutionarily independent segmental duplications occurring over the last 600+ million years of chordate evolution. This refined history of vertebrate genome duplication should permit more precise investigations of vertebrate evolution. PMID:26048246

  20. An Exact Algorithm to Compute the Double-Cut-and-Join Distance for Genomes with Duplicate Genes.

    PubMed

    Shao, Mingfu; Lin, Yu; Moret, Bernard M E

    2015-05-01

    Computing the edit distance between two genomes is a basic problem in the study of genome evolution. The double-cut-and-join (DCJ) model has formed the basis for most algorithmic research on rearrangements over the last few years. The edit distance under the DCJ model can be computed in linear time for genomes without duplicate genes, while the problem becomes NP-hard in the presence of duplicate genes. In this article, we propose an integer linear programming (ILP) formulation to compute the DCJ distance between two genomes with duplicate genes. We also provide an efficient preprocessing approach to simplify the ILP formulation while preserving optimality. Comparison on simulated genomes demonstrates that our method outperforms MSOAR in computing the edit distance, especially when the genomes contain long duplicated segments. We also apply our method to assign orthologous gene pairs among human, mouse, and rat genomes, where once again our method outperforms MSOAR. PMID:25517208

  1. De novo tandem duplication of chromosome segement 22q11-q12: Clinical, cytogenetic, and molecular characterization

    SciTech Connect

    Lindsay, E.A.; Shaffer, L.G.; Carrozzo, R.

    1995-04-10

    We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the {open_quotes}cat-eye{close_quotes}, Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of {open_quotes}cat-eye{close_quotes} syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosage-sensitive genes involved in development. 20 refs., 3 figs.

  2. 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

  3. Detection and phylogenetic assessment of conserved synteny derived from whole genome duplications.

    PubMed

    Kuraku, Shigehiro; Meyer, Axel

    2012-01-01

    Identification of intragenomic conservation of gene compositions in multiple chromosomal segments led to evidence of whole genome (WGDs) duplications. The process by which WGDs have been maintained and decayed provides us with clues for understanding how the genome evolves. In this chapter, we summarize current understanding of phylogenetic distribution and evolutionary impact of WGDs, introduce basic procedures to detect conserved synteny, and discuss typical pitfalls, as well as biological insights. PMID:22407717

  4. 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…

  5. Evolution of a Sigma Factor: An All-In-One of Gene Duplication, Horizontal Gene Transfer, Purifying Selection, and Promoter Differentiation

    PubMed Central

    López-Leal, Gamaliel; Cevallos, Miguel A.; Castillo-Ramírez, Santiago

    2016-01-01

    Sigma factors are an essential part of bacterial gene regulation and have been extensively studied as far as their molecular mechanisms and protein structure are concerned. However, their molecular evolution, especially for the alternative sigma factors, is poorly understood. Here, we analyze the evolutionary forces that have shaped the rpoH sigma factors within the alphaproteobacteria. We found that an ancient duplication gave rise to two major groups of rpoH sigma factors and that after this event horizontal gene transfer (HGT) occurred in rpoH1 group. We also noted that purifying selection has differentially affected distinct parts of the gene; singularly, the gene segment that encodes the region 4.2, which interacts with the −35 motif of the RpoH-dependent genes, has been under relaxed purifying selection. Furthermore, these two major groups are clearly differentiated from one another regarding their promoter selectivity, as rpoH1 is under the transcriptional control of σ70 and σ32, whereas rpoH2 is under the transcriptional control of σ24. Our results suggest a scenario in which HGT, gene loss, variable purifying selection and clear promoter specialization occurred after the ancestral duplication event. More generally, our study offers insights into the molecular evolution of alternative sigma factors and highlights the importance of analyzing not only the coding regions but also the promoter regions. PMID:27199915

  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. 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.

  9. 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

  10. The Evolutionary Fate of Alternatively Spliced Homologous Exons after Gene Duplication

    PubMed Central

    Abascal, Federico; Tress, Michael L.; Valencia, Alfonso

    2015-01-01

    Alternative splicing and gene duplication are the two main processes responsible for expanding protein functional diversity. Although gene duplication can generate new genes and alternative splicing can introduce variation through alternative gene products, the interplay between the two processes is complex and poorly understood. Here, we have carried out a study of the evolution of alternatively spliced exons after gene duplication to better understand the interaction between the two processes. We created a manually curated set of 97 human genes with mutually exclusively spliced homologous exons and analyzed the evolution of these exons across five distantly related vertebrates (lamprey, spotted gar, zebrafish, fugu, and coelacanth). Most of these exons had an ancient origin (more than 400 Ma). We found examples supporting two extreme evolutionary models for the behaviour of homologous axons after gene duplication. We observed 11 events in which gene duplication was accompanied by splice isoform separation, that is, each paralog specifically conserved just one distinct ancestral homologous exon. At other extreme, we identified genes in which the homologous exons were always conserved within paralogs, suggesting that the alternative splicing event cannot easily be separated from the function in these genes. That many homologous exons fall in between these two extremes highlights the diversity of biological systems and suggests that the subtle balance between alternative splicing and gene duplication is adjusted to the specific cellular context of each gene. PMID:25931610

  11. Reprever: resolving low-copy duplicated sequences using template driven assembly.

    PubMed

    Kim, Sangwoo; Medvedev, Paul; Paton, Tara A; Bafna, Vineet

    2013-07-01

    Genomic sequence duplication is an important mechanism for genome evolution, often resulting in large sequence variations with implications for disease progression. Although paired-end sequencing technologies are commonly used for structural variation discovery, the discovery of novel duplicated sequences remains an unmet challenge. We analyze duplicons starting from identified high-copy number variants. Given paired-end mapped reads, and a candidate high-copy region, our tool, Reprever, identifies (a) the insertion breakpoints where the extra duplicons inserted into the donor genome and (b) the actual sequence of the duplicon. Reprever resolves ambiguous mapping signatures from existing homologs, repetitive elements and sequencing errors to identify breakpoint. At each breakpoint, Reprever reconstructs the inserted sequence using profile hidden Markov model (PHMM)-based guided assembly. In a test on 1000 artificial genomes with simulated duplication, Reprever could identify novel duplicates up to 97% of genomes within 3 bp positional and 1% sequence errors. Validation on 680 fosmid sequences identified and reconstructed eight duplicated sequences with high accuracy. We applied Reprever to reanalyzing a re-sequenced data set from the African individual NA18507 to identify >800 novel duplicates, including insertions in genes and insertions with additional variation. polymerase chain reaction followed by capillary sequencing validated both the insertion locations of the strongest predictions and their predicted sequence. PMID:23658221

  12. The evolutionary fate of alternatively spliced homologous exons after gene duplication.

    PubMed

    Abascal, Federico; Tress, Michael L; Valencia, Alfonso

    2015-06-01

    Alternative splicing and gene duplication are the two main processes responsible for expanding protein functional diversity. Although gene duplication can generate new genes and alternative splicing can introduce variation through alternative gene products, the interplay between the two processes is complex and poorly understood. Here, we have carried out a study of the evolution of alternatively spliced exons after gene duplication to better understand the interaction between the two processes. We created a manually curated set of 97 human genes with mutually exclusively spliced homologous exons and analyzed the evolution of these exons across five distantly related vertebrates (lamprey, spotted gar, zebrafish, fugu, and coelacanth). Most of these exons had an ancient origin (more than 400 Ma). We found examples supporting two extreme evolutionary models for the behaviour of homologous axons after gene duplication. We observed 11 events in which gene duplication was accompanied by splice isoform separation, that is, each paralog specifically conserved just one distinct ancestral homologous exon. At other extreme, we identified genes in which the homologous exons were always conserved within paralogs, suggesting that the alternative splicing event cannot easily be separated from the function in these genes. That many homologous exons fall in between these two extremes highlights the diversity of biological systems and suggests that the subtle balance between alternative splicing and gene duplication is adjusted to the specific cellular context of each gene. PMID:25931610

  13. Assessment and Reconstruction of Novel HSP90 Genes: Duplications, Gains and Losses in Fungal and Animal Lineages

    PubMed Central

    Pantzartzi, Chrysoula N.; Drosopoulou, Elena; Scouras, Zacharias G.

    2013-01-01

    Hsp90s, members of the Heat Shock Protein class, protect the structure and function of proteins and play a significant task in cellular homeostasis and signal transduction. In order to determine the number of hsp90 gene copies and encoded proteins in fungal and animal lineages and through that key duplication events that this family has undergone, we collected and evaluated Hsp90 protein sequences and corresponding Expressed Sequence Tags and analyzed available genomes from various taxa. We provide evidence for duplication events affecting either single species or wider taxonomic groups. With regard to Fungi, duplicated genes have been detected in several lineages. In invertebrates, we demonstrate key duplication events in certain clades of Arthropoda and Mollusca, and a possible gene loss event in a hymenopteran family. Finally, we infer that the duplication event responsible for the two (a and b) isoforms in vertebrates occurred probably shortly after the split of Hyperoartia and Gnathostomata. PMID:24066039

  14. Segmented combustor

    NASA Technical Reports Server (NTRS)

    Halila, Ely E. (Inventor)

    1994-01-01

    A combustor liner segment includes a panel having four sidewalls forming a rectangular outer perimeter. A plurality of integral supporting lugs are disposed substantially perpendicularly to the panel and extend from respective ones of the four sidewalls. A plurality of integral bosses are disposed substantially perpendicularly to the panel and extend from respective ones of the four sidewalls, with the bosses being shorter than the lugs. In one embodiment, the lugs extend through supporting holes in an annular frame for mounting the liner segments thereto, with the bosses abutting the frame for maintaining a predetermined spacing therefrom.

  15. 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…

  16. 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

  17. 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

  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. 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....

  20. 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....

  1. 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....

  2. 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....

  3. 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...

  4. The role of duplications in the evolution of genomes highlights the need for evolutionary-based approaches in comparative genomics

    PubMed Central

    2011-01-01

    Understanding the evolutionary plasticity of the genome requires a global, comparative approach in which genetic events are considered both in a phylogenetic framework and with regard to population genetics and environmental variables. In the mechanisms that generate adaptive and non-adaptive changes in genomes, segmental duplications (duplication of individual genes or genomic regions) and polyploidization (whole genome duplications) are well-known driving forces. The probability of fixation and maintenance of duplicates depends on many variables, including population sizes and selection regimes experienced by the corresponding genes: a combination of stochastic and adaptive mechanisms has shaped all genomes. A survey of experimental work shows that the distinction made between fixation and maintenance of duplicates still needs to be conceptualized and mathematically modeled. Here we review the mechanisms that increase or decrease the probability of fixation or maintenance of duplicated genes, and examine the outcome of these events on the adaptation of the organisms. Reviewers This article was reviewed by Dr. Etienne Joly, Dr. Lutz Walter and Dr. W. Ford Doolittle. PMID:21333002

  5. A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep

    PubMed Central

    Norris, Belinda J.; Whan, Vicki A.

    2008-01-01

    Agouti signaling protein (ASIP) functions to regulate pigmentation in mice, while its role in many other animals and in humans has not been fully determined. In this study, we identify a 190-kb tandem duplication encompassing the ovine ASIP and AHCY coding regions and the ITCH promoter region as the genetic cause of white coat color of dominant white/tan (AWt) agouti sheep. The duplication 5′ breakpoint is located upstream of the ASIP coding sequence. Ubiquitous expression of a second copy of the ASIP coding sequence regulated by a duplicated copy of the nearby ITCH promoter causes the white sheep phenotype. A single copy ASIP gene with a silenced ASIP promoter occurs in recessive black sheep. In contrast, a single copy functional wild-type (A+) ASIP is responsible for the ancient Barbary sheep coat color phenotype. The gene duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment. This is the first sheep trait attributable to gene duplication and shows nonallelic homologous recombination and gene conversion events at the ovine ASIP locus could have an important role in the evolution of sheep pigmentation. PMID:18493018

  6. A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes.

    PubMed

    van Geel, Michel; Eichler, Evan E; Beck, Amy F; Shan, Zhihong; Haaf, Thomas; van der Maarel, Silvère M; Frants, Rune R; de Jong, Pieter J

    2002-01-01

    Subtelomeric duplications of an obscure tubulin "genic" segment located near the telomere of human chromosome 4q35 have occurred at different evolutionary time points within the last 25 million years of the catarrhine (i.e., hominoid and Old World monkey) evolution. The analyses of these segments reported here indicate an exceptional level of evolutionary instability. Substantial intra- and interspecific differences in copy number and distribution are observed among cercopithecoid (Old World monkey) and hominoid genomes. Characterization of the hominoid duplicated segments reveals a strong positional bias within pericentromeric and subtelomeric regions of the genome. On the basis of phylogenetic analysis from predicted proteins and comparisons of nucleotide-substitution rates, we present evidence of a conserved b-tubulin gene among the duplications. Remarkably, the evolutionary conservation has occurred in a nonorthologous fashion, such that the functional copy has shifted its positional context between hominoids and cercopithecoids. We propose that, in a chimpanzee-human common ancestor, one of the paralogous copies assumed the original function, whereas the ancestral copy acquired mutations and eventually became silenced. Our analysis emphasizes the dynamic nature of duplication-mediated genome evolution and the delicate balance between gene acquisition and silencing. PMID:11731935

  7. DIFFERENTIAL ANALYZER

    DOEpatents

    Sorensen, E.G.; Gordon, C.M.

    1959-02-10

    Improvements in analog eomputing machines of the class capable of evaluating differential equations, commonly termed differential analyzers, are described. In general form, the analyzer embodies a plurality of basic computer mechanisms for performing integration, multiplication, and addition, and means for directing the result of any one operation to another computer mechanism performing a further operation. In the device, numerical quantities are represented by the rotation of shafts, or the electrical equivalent of shafts.

  8. 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

  9. Ileal duplication mimicking intestinal intussusception: a congenital condition rarely reported in adult.

    PubMed

    Li, Bing-Lu; Huang, Xin; Zheng, Chao-Ji; Zhou, Jiao-Lin; Zhao, Yu-Pei

    2013-10-14

    Intestinal duplication is an uncommon congenital condition in young adults. A 25-year-old man complained of chronic, intermittent abdominal pain for 3 years following previous appendectomy for the treatment of suspected appendicitis. Abdominal discomfort and pain, suggestive of intestinal obstruction, recurred after operation. A tubular mass was palpable in the right lower quadrant. Computed tomography enterography scan identified suspicious intestinal intussusception, while Tc-99m pertechnetate scintigraphy revealed a cluster of strip-like abnormal radioactivity in the right lower quadrant. On exploratory laparotomy, a tubular-shaped ileal duplication cyst was found arising from the mesenteric margin of the native ileal segment located 15 cm proximal to the ileocecal valve. Ileectomy was performed along with the removal of the duplication disease, and the end-to-end anastomosis was done to restore the gastrointestinal tract continuity. Pathological examination showed ileal duplication with ectopic gastric mucosa. The patient experienced an eventless postoperative recovery and remained asymptomatic within 2 years of postoperative follow-up. PMID:24151372

  10. The role of human-specific gene duplications during brain development and evolution.

    PubMed

    Sassa, Takayuki

    2013-09-01

    One of the most fascinating questions in evolutionary biology is how traits unique to humans, such as their high cognitive abilities, erect bipedalism, and hairless skin, are encoded in the genome. Recent advances in genomics have begun to reveal differences between the genomes of the great apes. It has become evident that one of the many mutation types, segmental duplication, has drastically increased in the primate genomes, and most remarkably in the human genome. Genes contained in these segmental duplications have a tremendous potential to cause genetic innovation, probably accounting for the acquisition of human-specific traits. In this review, I begin with an overview of the genes, which have increased their copy number specifically in the human lineage, following its separation from the common ancestor with our closest living relative, the chimpanzee. Then, I introduce the recent experimental approaches, focusing on SRGAP2, which has been partially duplicated, to elucidate the role of SRGAP2 protein and its human-specific paralogs in human brain development and evolution. PMID:23782070

  11. Convergent evolution of human and bovine haptoglobin: partial duplication of the genes.

    PubMed

    Wicher, Krzysztof B; Fries, Erik

    2007-10-01

    Haptoglobin (Hp) is a hemoglobin-binding plasma protein consisting of two types of chains, called alpha and beta, which originate from a common polypeptide. In humans, but not in other mammals, Hp has been shown to occur in two allelic forms, Hp1 and Hp2, which differ in the length of the alpha-chain. The longer alpha-chain (in Hp2) seems to have arisen by an internal duplication of a gene segment coding for almost the entire alpha-chain of Hp1. In this article we show that Hp of cow (Bos taurus) contains an alpha-chain, the structure of which is similar to that of the human Hp2 alpha-chain. Furthermore, comparison of the structure of bovine Hp and human Hp2 suggests that the bovine gene arose by a duplication of the gene segment homologous to that duplicated in human Hp2. However, a phylogenetic analysis indicates that the two genes were formed independently. The evolutionary pressure that has led to the fixation of the Hps with a longer alpha-chain is not known. PMID:17922076

  12. 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.

  13. 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

  14. Inherited partial direct duplication of 11q: First report and possible association with a midline developmental field defect

    SciTech Connect

    Witt, D.R.; Jenkins, L.; Pinheiro, S.

    1994-09-01

    A 36-year-old woman underwent amniocentesis for advanced maternal age. The fetal karyotype had an extra dark staining G band on the long arm of chromosome 11 with no other identifiable abnormalities. FISH studies using a chromosome 11 paint probe confirmed the origin of the extra band. The abnormality was identified as a partial duplication of 11q: 46,XX dir dup (11)(q13.5q21) or (q21q23.1). The specific duplicated band could not be identified with certainty. Detailed fetal sonograms were normal. Family studies revealed the identical duplication in the mother but normal karyotypes in both maternal grandparents. The mother had strabismus and a short tongue frenulum which required surgical correction. Menses occurred late in adolescence and complete development of secondary sexual characteristics was delayed until adulthood. An infertility evaluation revealed duplication of the uterus, cervix, and vagina. An evaluation for metorrhagia identified a pituitary adenoma which was resected. Her intelligence was normal. To our knowledge this is the first report of a heritable direct duplication of 11q. It is possible that one or more gene in the duplicated segment played a causal role in the pathophysiology of the patient`s anomalies through a disturbance of the so-called {open_quotes}midline developmental field{close_quotes}. Alternatively, the cytogenetic findings could be unrelated to the malformations. Rare instances of partial gain or loss of specific late-replicating heterochromatic regions without phenotypic effect have been reported. This region of 11q is also relatively late-replicating. This is consistent with previous reports suggesting a paucity of expressed genes in this 11q region. Molecular studies of the duplication are underway to determine the specific location and extent of duplication. Phenotypic evaluation of the patient`s baby will also be reported.

  15. Gas Analyzer

    NASA Technical Reports Server (NTRS)

    1989-01-01

    The M200 originated in the 1970's under an Ames Research Center/Stanford University contract to develop a small, lightweight gas analyzer for Viking Landers. Although the unit was not used on the spacecraft, it was further developed by The National Institute for Occupational Safety and Health (NIOSH). Three researchers from the project later formed Microsensor Technology, Inc. (MTI) to commercialize the analyzer. The original version (Micromonitor 500) was introduced in 1982, and the M200 in 1988. The M200, a more advanced version, features dual gas chromatograph which separate a gaseous mixture into components and measure concentrations of each gas. It is useful for monitoring gas leaks, chemical spills, etc. Many analyses are completed in less than 30 seconds, and a wide range of mixtures can be analyzed.

  16. Process Analyzer

    NASA Technical Reports Server (NTRS)

    1994-01-01

    The ChemScan UV-6100 is a spectrometry system originally developed by Biotronics Technologies, Inc. under a Small Business Innovation Research (SBIR) contract. It is marketed to the water and wastewater treatment industries, replacing "grab sampling" with on-line data collection. It analyzes the light absorbance characteristics of a water sample, simultaneously detects hundreds of individual wavelengths absorbed by chemical substances in a process solution, and quantifies the information. Spectral data is then processed by ChemScan analyzer and compared with calibration files in the system's memory in order to calculate concentrations of chemical substances that cause UV light absorbance in specific patterns. Monitored substances can be analyzed for quality and quantity. Applications include detection of a variety of substances, and the information provided enables an operator to control a process more efficiently.

  17. 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...

  18. 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

  19. 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...

  20. 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...

  1. 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...

  2. 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...

  3. 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 ...

  4. 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 ...

  5. [Segmental neurofibromatosis].

    PubMed

    Zulaica, A; Peteiro, C; Pereiro, M; Pereiro Ferreiros, M; Quintas, C; Toribio, J

    1989-01-01

    Four cases of segmental neurofibromatosis (SNF) are reported. It is a rare entity considered to be a localized variant of neurofibromatosis (NF)-Riccardi's type V. Two cases are male and two female. The lesions are located to the head in a patient and the other three cases in the trunk. No family history nor transmission to progeny were manifested. The rest of the organs are undamaged. PMID:2502696

  6. Blood Analyzer

    NASA Technical Reports Server (NTRS)

    1992-01-01

    In the 1970's, NASA provided funding for development of an automatic blood analyzer for Skylab at the Oak Ridge National Laboratory (ORNL). ORNL devised "dynamic loading," which employed a spinning rotor to load, transfer, and analyze blood samples by centrifugal processing. A refined, commercial version of the system was produced by ABAXIS and is marketed as portable ABAXIS MiniLab MCA. Used in a doctor's office, the equipment can perform 80 to 100 chemical blood tests on a single drop of blood and report results in five minutes. Further development is anticipated.

  7. 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

  8. 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

  9. 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

  10. 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

  11. Ascorbate peroxidase-related (APx-R) is not a duplicable gene

    PubMed Central

    Dunand, Christophe; Mathé, Catherine; Lazzarotto, Fernanda; Margis, Rogério; Margis-Pinheiro, Marcia

    2011-01-01

    Phylogenetic, genomic and functional analyses have allowed the identification of a new class of putative heme peroxidases, so called APx-R (APx-Related). These new class, mainly present in the green lineage (including green algae and land plants), can also be detected in other unicellular chloroplastic organisms. Except for recent polyploid organisms, only single-copy of APx-R gene was detected in each genome, suggesting that the majority of the APx-R extra-copies were lost after chromosomal or segmental duplications. In a similar way, most APx-R co-expressed genes in Arabidopsis genome do not have conserved extra-copies after chromosomal duplications and are predicted to be localized in organelles, as are the APx-R. The member of this gene network can be considered as unique gene, well conserved through the evolution due to a strong negative selection pressure and a low evolution rate. PMID:22231200

  12. Atmosphere Analyzer

    NASA Technical Reports Server (NTRS)

    1982-01-01

    California Measurements, Inc.'s model PC-2 Aerosol Particle Analyzer is produced in both airborne and ground-use versions. Originating from NASA technology, it is a quick and accurate method of detecting minute amounts of mass loadings on a quartz crystal -- offers utility as highly sensitive detector of fine particles suspended in air. When combined with suitable air delivery system, it provides immediate information on the size distribution and mass concentrations of aerosols. William Chiang, obtained a NASA license for multiple crystal oscillator technology, and initially developed a particle analyzer for NASA use with Langley Research Center assistance. Later his company produced the modified PC-2 for commercial applications Brunswick Corporation uses the device for atmospheric research and in studies of smoke particles in Fires. PC-2 is used by pharmaceutical and chemical companies in research on inhalation toxicology and environmental health. Also useful in testing various filters for safety masks and nuclear installations.

  13. Oxygen analyzer

    DOEpatents

    Benner, W.H.

    1984-05-08

    An oxygen analyzer which identifies and classifies microgram quantities of oxygen in ambient particulate matter and for quantitating organic oxygen in solvent extracts of ambient particulate matter. A sample is pyrolyzed in oxygen-free nitrogen gas (N/sub 2/), and the resulting oxygen quantitatively converted to carbon monoxide (CO) by contact with hot granular carbon (C). Two analysis modes are made possible: (1) rapid determination of total pyrolyzable obtained by decomposing the sample at 1135/sup 0/C, or (2) temperature-programmed oxygen thermal analysis obtained by heating the sample from room temperature to 1135/sup 0/C as a function of time. The analyzer basically comprises a pyrolysis tube containing a bed of granular carbon under N/sub 2/, ovens used to heat the carbon and/or decompose the sample, and a non-dispersive infrared CO detector coupled to a mini-computer to quantitate oxygen in the decomposition products and control oven heating.

  14. Oxygen analyzer

    DOEpatents

    Benner, William H.

    1986-01-01

    An oxygen analyzer which identifies and classifies microgram quantities of oxygen in ambient particulate matter and for quantitating organic oxygen in solvent extracts of ambient particulate matter. A sample is pyrolyzed in oxygen-free nitrogen gas (N.sub.2), and the resulting oxygen quantitatively converted to carbon monoxide (CO) by contact with hot granular carbon (C). Two analysis modes are made possible: (1) rapid determination of total pyrolyzable oxygen obtained by decomposing the sample at 1135.degree. C., or (2) temperature-programmed oxygen thermal analysis obtained by heating the sample from room temperature to 1135.degree. C. as a function of time. The analyzer basically comprises a pyrolysis tube containing a bed of granular carbon under N.sub.2, ovens used to heat the carbon and/or decompose the sample, and a non-dispersive infrared CO detector coupled to a mini-computer to quantitate oxygen in the decomposition products and control oven heating.

  15. Process Analyzer

    NASA Technical Reports Server (NTRS)

    1993-01-01

    Under a NASA Small Business Innovation Research (SBIR) contract, Axiomatics Corporation developed a shunting Dielectric Sensor to determine the nutrient level and analyze plant nutrient solutions in the CELSS, NASA's space life support program. (CELSS is an experimental facility investigating closed-cycle plant growth and food processing for long duration manned missions.) The DiComp system incorporates a shunt electrode and is especially sensitive to changes in dielectric property changes in materials at measurements much lower than conventional sensors. The analyzer has exceptional capabilities for predicting composition of liquid streams or reactions. It measures concentrations and solids content up to 100 percent in applications like agricultural products, petrochemicals, food and beverages. The sensor is easily installed; maintenance is low, and it can be calibrated on line. The software automates data collection and analysis.

  16. 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

  17. 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

  18. 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

  19. MULTICHANNEL ANALYZER

    DOEpatents

    Kelley, G.G.

    1959-11-10

    A multichannel pulse analyzer having several window amplifiers, each amplifier serving one group of channels, with a single fast pulse-lengthener and a single novel interrogation circuit serving all channels is described. A pulse followed too closely timewise by another pulse is disregarded by the interrogation circuit to prevent errors due to pulse pileup. The window amplifiers are connected to the pulse lengthener output, rather than the linear amplifier output, so need not have the fast response characteristic formerly required.

  20. 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

  1. Segmental neurofibromatosis.

    PubMed

    Sobjanek, Michał; Dobosz-Kawałko, Magdalena; Michajłowski, Igor; Pęksa, Rafał; Nowicki, Roman

    2014-12-01

    Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year history of multiple, flesh colored, dome-shaped, soft to firm nodules situated in the right lumbar region. A histopathologic evaluation of three excised tumors revealed neurofibromas. No neurological and ophthalmologic symptoms of neurofibromatosis were diagnosed. PMID:25610358

  2. Segmental neurofibromatosis.

    PubMed

    Adigun, Chris G; Stein, Jennifer

    2011-01-01

    A 59-year-old man presented for evaluation and excision of non-tender, fleshy nodules that were arranged in a dermatomal distribution from the left side of the chest to the left axilla. A biopsy specimen of a nodule was consistent with a neurofibroma. Owing to the lack of other cutaneous findings, the lack of a family history of neurofibromatosis, and the dermatomal distribution of the neurofibromas, this patient met the criteria for a diagnosis of segmental neurofibromatosis (SNF) according to Riccardi's definition of SNF and classification of neurofibromatosis. Because the patient has no complications of neurofibromatosis 1 no medical treatment is required. PMID:22031651

  3. Segmental neurofibromatosis

    PubMed Central

    Dobosz-Kawałko, Magdalena; Michajłowski, Igor; Pęksa, Rafał; Nowicki, Roman

    2014-01-01

    Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year history of multiple, flesh colored, dome-shaped, soft to firm nodules situated in the right lumbar region. A histopathologic evaluation of three excised tumors revealed neurofibromas. No neurological and ophthalmologic symptoms of neurofibromatosis were diagnosed. PMID:25610358

  4. Gas Analyzer

    NASA Technical Reports Server (NTRS)

    1983-01-01

    A miniature gas chromatograph, a system which separates a gaseous mixture into its components and measures the concentration of the individual gases, was designed for the Viking Lander. The technology was further developed under National Institute for Occupational Safety and Health (NIOSH) and funded by Ames Research Center/Stanford as a toxic gas leak detection device. Three researchers on the project later formed Microsensor Technology, Inc. to commercialize the product. It is a battery-powered system consisting of a sensing wand connected to a computerized analyzer. Marketed as the Michromonitor 500, it has a wide range of applications.

  5. Metabolic analyzer

    NASA Technical Reports Server (NTRS)

    Lem, J. D.

    1977-01-01

    The metabolic analyzer was designed to support experiment M171. It operates on the so-called open circuit method to measure a subject's metabolic activity in terms of oxygen consumed, carbon dioxide produced, minute volume, respiratory exchange ratio, and tidal volume or vital capacity. The system operates in either of two modes. (1) In Mode I, inhaled respiratory volumes are actually measured by a piston spirometer. (2) In Mode II, inhaled volumes are calculated from the exhaled volume and the measured inhaled and exhaled nitrogen concentrations. This second mode was the prime mode for Skylab. Following is a brief description of the various subsystems and their operation.

  6. Contamination Analyzer

    NASA Technical Reports Server (NTRS)

    1994-01-01

    Measurement of the total organic carbon content in water is important in assessing contamination levels in high purity water for power generation, pharmaceutical production and electronics manufacture. Even trace levels of organic compounds can cause defects in manufactured products. The Sievers Model 800 Total Organic Carbon (TOC) Analyzer, based on technology developed for the Space Station, uses a strong chemical oxidizing agent and ultraviolet light to convert organic compounds in water to carbon dioxide. After ionizing the carbon dioxide, the amount of ions is determined by measuring the conductivity of the deionized water. The new technique is highly sensitive, does not require compressed gas, and maintenance is minimal.

  7. Divergent evolution of part of the involucrin gene in the hominoids: Unique intragenic duplications in the gorilla and human

    SciTech Connect

    Teumer, J.; Green, H. )

    1989-02-01

    The gene for involucrin, an epidermal protein, has been remodeled in the higher primates. Most of the coding region of the human gene consists of a modern segment of repeats derived from a 10-codon sequence present in the ancestral segment of the gene. The modern segment can be divided into early, middle, and late regions. The authors report here the nucleotide sequence of three alleles of the gorilla involucrin gene. Each possesses a modern segment homologous to that of the human and consisting of 10-codon repeats. The early and middle regions are similar to the corresponding regions of the human allele and are nearly identical among the different gorilla alleles. The late region consists of recent duplications whose pattern is unique in each of the gorilla alleles and in the human allele. The early region is located in what is now the 3{prime} third of the modern segment, and the late, polymorphic region is located in what is now the 5{prime} third. Therefore, as the modern segment expanded during evolution, its 3{prime} end became stabilized, and continuing duplications became confined to its 5{prime} end. The expansion of the involucrin coding region, which began long before the separation of the gorilla and human, has continued in both species after their separation.

  8. Analyzing Orientations

    NASA Astrophysics Data System (ADS)

    Ruggles, Clive L. N.

    Archaeoastronomical field survey typically involves the measurement of structural orientations (i.e., orientations along and between built structures) in relation to the visible landscape and particularly the surrounding horizon. This chapter focuses on the process of analyzing the astronomical potential of oriented structures, whether in the field or as a desktop appraisal, with the aim of establishing the archaeoastronomical "facts". It does not address questions of data selection (see instead Chap. 25, "Best Practice for Evaluating the Astronomical Significance of Archaeological Sites", 10.1007/978-1-4614-6141-8_25) or interpretation (see Chap. 24, "Nature and Analysis of Material Evidence Relevant to Archaeoastronomy", 10.1007/978-1-4614-6141-8_22). The main necessity is to determine the azimuth, horizon altitude, and declination in the direction "indicated" by any structural orientation. Normally, there are a range of possibilities, reflecting the various errors and uncertainties in estimating the intended (or, at least, the constructed) orientation, and in more formal approaches an attempt is made to assign a probability distribution extending over a spread of declinations. These probability distributions can then be cumulated in order to visualize and analyze the combined data from several orientations, so as to identify any consistent astronomical associations that can then be correlated with the declinations of particular astronomical objects or phenomena at any era in the past. The whole process raises various procedural and methodological issues and does not proceed in isolation from the consideration of corroborative data, which is essential in order to develop viable cultural interpretations.

  9. Identification, duplication, evolution and expression analyses of caleosins in Brassica plants and Arabidopsis subspecies.

    PubMed

    Shen, Yue; Liu, Mingzhe; Wang, Lili; Li, Zhuowei; Taylor, David C; Li, Zhixi; Zhang, Meng

    2016-04-01

    Caleosins are a class of Ca(2+) binding proteins that appear to be ubiquitous in plants. Some of the main proteins embedded in the lipid monolayer of lipid droplets, caleosins, play critical roles in the degradation of storage lipids during germination and in lipid trafficking. Some of them have been shown to have histidine-dependent peroxygenase activity, which is believed to participate in stress responses in Arabidopsis. In the model plant Arabidopsis thaliana, caleosins have been examined extensively. However, little is known on a genome-wide scale about these proteins in other members of the Brassicaceae. In this study, 51 caleosins in Brassica plants and Arabidopsis lyrata were investigated and analyzed in silico. Among them, 31 caleosins, including 7 in A. lyrata, 11 in Brassica oleracea and 13 in Brassica napus, are herein identified for the first time. Segmental duplication was the main form of gene expansion. Alignment, motif and phylogenetic analyses showed that Brassica caleosins belong to either the H-family or the L-family with different motif structures and physicochemical properties. Our findings strongly suggest that L-caleosins are evolved from H-caleosins. Predicted phosphorylation sites were differentially conserved in H-caleosin and L-caleosins, respectively. 'RY-repeat' elements and phytohormone-related cis-elements were identified in different caleosins, which suggest diverse physiological functions. Gene structure analysis indicated that most caleosins (38 out of 44) contained six exons and five introns and their intron phases were highly conserved. Structurally integrated caleosins, such as BrCLO3-3 and BrCLO4-2, showed high expression levels and may have important roles. Some caleosins, such as BrCLO2 and BoCLO8-2, lost motifs of the calcium binding domain, proline knot, potential phosphorylation sites and haem-binding sites. Combined with their low expression, it is suggested that these caleosins may have lost function. PMID:26786939

  10. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    PubMed Central

    Hannes, F D; Sharp, A J; Mefford, H C; de Ravel, T; Ruivenkamp, C A; Breuning, M H; Fryns, J-P; Devriendt, K; Van Buggenhout, G; Vogels, A; Stewart, H; Hennekam, R C; Cooper, G M; Regan, R; Knight, S J L; Eichler, E E; Vermeesch, J R

    2009-01-01

    Background: Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. Methods and Results: A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC array CGH screen identified five patients with deletions and five with apparently reciprocal duplications of 16p13 covering 1.65 Mb, including 15 RefSeq genes. In addition, three atypical rearrangements overlapping or flanking this region were found. Fine mapping by high-resolution oligonucleotide arrays suggests that these deletions and duplications result from non-allelic homologous recombination (NAHR) between distinct LCR16 subunits with >99% sequence identity. Deletions and duplications were either de novo or inherited from unaffected parents. To determine whether these imbalances are associated with the MR/MCA phenotype or whether they might be benign variants, a population of 2014 normal controls was screened. The absence of deletions in the control population showed that 16p13.11 deletions are significantly associated with MR/MCA (p = 0.0048). Despite phenotypic variability, common features were identified: three patients with deletions presented with MR, microcephaly and epilepsy (two of these had also short stature), and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects. In contrast to its previous association with autism, the duplication seems to be a common variant in the population (5/1682, 0.29%). Conclusion: These findings indicate that deletions inherited from clinically normal parents are likely to be causal for the patients’ phenotype whereas the role of duplications (de novo or inherited) in the phenotype remains uncertain. This difference in knowledge regarding the

  11. Optical analyzer

    DOEpatents

    Hansen, A.D.

    1987-09-28

    An optical analyzer wherein a sample of particulate matter, and particularly of organic matter, which has been collected on a quartz fiber filter is placed in a combustion tube, and light from a light source is passed through the sample. The temperature of the sample is raised at a controlled rate and in a controlled atmosphere. The magnitude of the transmission of light through the sample is detected as the temperature is raised. A data processor, differentiator and a two pen recorder provide a chart of the optical transmission versus temperature and the rate of change of optical transmission versus temperature signatures (T and D) of the sample. These signatures provide information as to physical and chemical processes and a variety of quantitative and qualitative information about the sample. Additional information is obtained by repeating the run in different atmospheres and/or different rates or heating with other samples of the same particulate material collected on other filters. 7 figs.

  12. Speech analyzer

    NASA Technical Reports Server (NTRS)

    Lokerson, D. C. (Inventor)

    1977-01-01

    A speech signal is analyzed by applying the signal to formant filters which derive first, second and third signals respectively representing the frequency of the speech waveform in the first, second and third formants. A first pulse train having approximately a pulse rate representing the average frequency of the first formant is derived; second and third pulse trains having pulse rates respectively representing zero crossings of the second and third formants are derived. The first formant pulse train is derived by establishing N signal level bands, where N is an integer at least equal to two. Adjacent ones of the signal bands have common boundaries, each of which is a predetermined percentage of the peak level of a complete cycle of the speech waveform.

  13. Genome-wide construction of a series of designed segmental aneuploids in Saccharomyces cerevisiae

    PubMed Central

    Natesuntorn, Waranya; Iwami, Kotaro; Matsubara, Yuki; Sasano, Yu; Sugiyama, Minetaka; Kaneko, Yoshinobu; Harashima, Satoshi

    2015-01-01

    Segmental aneuploidy can play an important role in environmental adaptation. However, study of segmental aneuploids is severely hampered by the difficulty of creating them in a designed fashion. Here, we describe a PCR-mediated chromosome duplication (PCDup) technology that enables the generation of segmental aneuploidy at any desired chromosomal region in Saccharomyces cerevisiae. We constructed multiple strains harboring 100 kb to 200 kb segmental duplications covering the whole of the S. cerevisiae genome. Interestingly, some segmental aneuploidies confer stress tolerance, such as to high temperature, ethanol and strong acids, while others induce cell lethality and stress sensitivity, presumably as result of the simultaneous increases in dosages of multiple genes. We suggest that our PCDup technology will accelerate studies into the phenotypic changes resulting from alteration of gene dosage balance of multiple genes and will provide new insights into the adaptive molecular mechanisms in the genome in segmental aneuploidy-derived human diseases. PMID:26224198

  14. 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

  15. 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

  16. Optical analyzer

    DOEpatents

    Hansen, Anthony D.

    1989-02-07

    An optical analyzer (10) wherein a sample (19) of particulate matter, and particularly of organic matter, which has been collected on a quartz fiber filter (20) is placed in a combustion tube (11), and light from a light source (14) is passed through the sample (19). The temperature of the sample (19) is raised at a controlled rate and in a controlled atmosphere. The magnitude of the transmission of light through the sample (19) is detected (18) as the temperature is raised. A data processor (23), differentiator (28) and a two pen recorder (24) provide a chart of the optical transmission versus temperature and the rate of change of optical transmission versus temperature signatures (T and D) of the sample (19). These signatures provide information as to physical and chemical processes and a variety of quantitative and qualitative information about the sample (19). Additional information is obtained by repeating the run in different atmospheres and/or different rates of heating with other samples of the same particulate material collected on other filters.

  17. Optical analyzer

    DOEpatents

    Hansen, Anthony D.

    1989-01-01

    An optical analyzer (10) wherein a sample (19) of particulate matter, and particularly of organic matter, which has been collected on a quartz fiber filter (20) is placed in a combustion tube (11), and light from a light source (14) is passed through the sample (19). The temperature of the sample (19) is raised at a controlled rate and in a controlled atmosphere. The magnitude of the transmission of light through the sample (19) is detected (18) as the temperature is raised. A data processor (23), differentiator (28) and a two pen recorder (24) provide a chart of the optical transmission versus temperature and the rate of change of optical transmission versus temperature signatures (T and D) of the sample (19). These signatures provide information as to physical and chemical processes and a variety of quantitative and qualitative information about the sample (19). Additional information is obtained by repeating the run in different atmospheres and/or different rates of heating with other samples of the same particulate material collected on other filters.

  18. Further contribution to the description of phenotypes associated with partial 4q duplication

    SciTech Connect

    Zollino, M.; Zampino, G.; Torrioli, G.

    1995-05-22

    We report on a 15-year-old girl with previously undescribed de novo duplication of segment 4q13.1{r_arrow}q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field. 17 refs., 5 figs., 21 tabs.

  19. Multiatlas segmentation as nonparametric regression.

    PubMed

    Awate, Suyash P; Whitaker, Ross T

    2014-09-01

    This paper proposes a novel theoretical framework to model and analyze the statistical characteristics of a wide range of segmentation methods that incorporate a database of label maps or atlases; such methods are termed as label fusion or multiatlas segmentation. We model these multiatlas segmentation problems as nonparametric regression problems in the high-dimensional space of image patches. We analyze the nonparametric estimator's convergence behavior that characterizes expected segmentation error as a function of the size of the multiatlas database. We show that this error has an analytic form involving several parameters that are fundamental to the specific segmentation problem (determined by the chosen anatomical structure, imaging modality, registration algorithm, and label-fusion algorithm). We describe how to estimate these parameters and show that several human anatomical structures exhibit the trends modeled analytically. We use these parameter estimates to optimize the regression estimator. We show that the expected error for large database sizes is well predicted by models learned on small databases. Thus, a few expert segmentations can help predict the database sizes required to keep the expected error below a specified tolerance level. Such cost-benefit analysis is crucial for deploying clinical multiatlas segmentation systems. PMID:24802528

  20. ABSORPTION ANALYZER

    DOEpatents

    Brooksbank, W.A. Jr.; Leddicotte, G.W.; Strain, J.E.; Hendon, H.H. Jr.

    1961-11-14

    A means was developed for continuously computing and indicating the isotopic assay of a process solution and for automatically controlling the process output of isotope separation equipment to provide a continuous output of the desired isotopic ratio. A counter tube is surrounded with a sample to be analyzed so that the tube is exactly in the center of the sample. A source of fast neutrons is provided and is spaced from the sample. The neutrons from the source are thermalized by causing them to pass through a neutron moderator, and the neutrons are allowed to diffuse radially through the sample to actuate the counter. A reference counter in a known sample of pure solvent is also actuated by the thermal neutrons from the neutron source. The number of neutrons which actuate the detectors is a function of a concentration of the elements in solution and their neutron absorption cross sections. The pulses produced by the detectors responsive to each neu tron passing therethrough are amplified and counted. The respective times required to accumulate a selected number of counts are measured by associated timing devices. The concentration of a particular element in solution may be determined by utilizing the following relation: T2/Ti = BCR, where B is a constant proportional to the absorption cross sections, T2 is the time of count collection for the unknown solution, Ti is the time of count collection for the pure solvent, R is the isotopic ratlo, and C is the molar concentration of the element to be determined. Knowing the slope constant B for any element and when the chemical concentration is known, the isotopic concentration may be readily determined, and conversely when the isotopic ratio is known, the chemical concentrations may be determined. (AEC)

  1. 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

  2. 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.

  3. Multiple bursts of pancreatic ribonuclease gene duplication in insect-eating bats.

    PubMed

    Xu, Huihui; Liu, Yang; Meng, Fanxing; He, Beibei; Han, Naijian; Li, Gang; Rossiter, Stephen J; Zhang, Shuyi

    2013-09-10

    Pancreatic ribonuclease gene (RNASE1) was previously shown to have undergone duplication and adaptive evolution related to digestive efficiency in several mammalian groups that have evolved foregut fermentation, including ruminants and some primates. RNASE1 gene duplications thought to be linked to diet have also been recorded in some carnivores. Of all mammals, bats have evolved the most diverse dietary specializations, mainly including frugivory and insectivory. Here we cloned, sequenced and analyzed RNASE1 gene sequences from a range of bat species to determine whether their dietary adaptation is mirrored by molecular adaptation. We found that seven insect-eating members of the families Vespertilionidae and Molossidae possessed two or more duplicates, and we also detected three pseudogenes. Reconstructed RNASE1 gene trees based on both Bayesian and maximum likelihood methods supported independent duplication events in these two families. Selection tests revealed that RNASE1 gene duplicates have undergone episodes of positive selection indicative of functional modification, and lineage-specific tests revealed strong adaptive evolution in the Tadarida β clade. However, unlike the RNASE1 duplicates that function in digestion in some mammals, the bat RNASE1 sequences were found to be characterized by relatively high isoelectric points, a feature previously suggested to promote defense against viruses via the breakdown of double-stranded RNA. Taken together, our findings point to an adaptive diversification of RNASE1 in these two bat families, although we find no clear evidence that this was driven by diet. Future experimental assays are needed to resolve the functions of these enzymes in bats. PMID:23644026

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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.

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. Hyper-expansion of large DNA segments in the genome of kuruma shrimp, Marsupenaeus japonicus

    PubMed Central

    2010-01-01

    duplicated DNA segments, our result suggested that it is difficult to analyze the shrimp genome following normal analytical methodology. Hence, it is necessary to avoid repetitive sequence (such as segmental duplications) when studying the other unique structures in the shrimp genome. PMID:20187930

  18. Major Chromosomal Rearrangements Distinguish Willow and Poplar After the Ancestral "Salicoid" Genome Duplication.

    PubMed

    Hou, Jing; Ye, Ning; Dong, Zhongyuan; Lu, Mengzhu; Li, Laigeng; Yin, Tongming

    2016-01-01

    Populus (poplar) and Salix (willow) are sister genera in the Salicaceae family. In both lineages extant species are predominantly diploid. Genome analysis previously revealed that the two lineages originated from a common tetraploid ancestor. In this study, we conducted a syntenic comparison of the corresponding 19 chromosome members of the poplar and willow genomes. Our observations revealed that almost every chromosomal segment had a parallel paralogous segment elsewhere in the genomes, and the two lineages shared a similar syntenic pinwheel pattern for most of the chromosomes, which indicated that the two lineages diverged after the genome reorganization in the common progenitor. The pinwheel patterns showed distinct differences for two chromosome pairs in each lineage. Further analysis detected two major interchromosomal rearrangements that distinguished the karyotypes of willow and poplar. Chromosome I of willow was a conjunction of poplar chromosome XVI and the lower portion of poplar chromosome I, whereas willow chromosome XVI corresponded to the upper portion of poplar chromosome I. Scientists have suggested that Populus is evolutionarily more primitive than Salix. Therefore, we propose that, after the "salicoid" duplication event, fission and fusion of the ancestral chromosomes first give rise to the diploid progenitor of extant Populus species. During the evolutionary process, fission and fusion of poplar chromosomes I and XVI subsequently give rise to the progenitor of extant Salix species. This study contributes to an improved understanding of genome divergence after ancient genome duplication in closely related lineages of higher plants. PMID:27352946

  19. Major Chromosomal Rearrangements Distinguish Willow and Poplar After the Ancestral “Salicoid” Genome Duplication

    PubMed Central

    Hou, Jing; Ye, Ning; Dong, Zhongyuan; Lu, Mengzhu; Li, Laigeng; Yin, Tongming

    2016-01-01

    Populus (poplar) and Salix (willow) are sister genera in the Salicaceae family. In both lineages extant species are predominantly diploid. Genome analysis previously revealed that the two lineages originated from a common tetraploid ancestor. In this study, we conducted a syntenic comparison of the corresponding 19 chromosome members of the poplar and willow genomes. Our observations revealed that almost every chromosomal segment had a parallel paralogous segment elsewhere in the genomes, and the two lineages shared a similar syntenic pinwheel pattern for most of the chromosomes, which indicated that the two lineages diverged after the genome reorganization in the common progenitor. The pinwheel patterns showed distinct differences for two chromosome pairs in each lineage. Further analysis detected two major interchromosomal rearrangements that distinguished the karyotypes of willow and poplar. Chromosome I of willow was a conjunction of poplar chromosome XVI and the lower portion of poplar chromosome I, whereas willow chromosome XVI corresponded to the upper portion of poplar chromosome I. Scientists have suggested that Populus is evolutionarily more primitive than Salix. Therefore, we propose that, after the “salicoid” duplication event, fission and fusion of the ancestral chromosomes first give rise to the diploid progenitor of extant Populus species. During the evolutionary process, fission and fusion of poplar chromosomes I and XVI subsequently give rise to the progenitor of extant Salix species. This study contributes to an improved understanding of genome divergence after ancient genome duplication in closely related lineages of higher plants. PMID:27352946

  20. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

    PubMed

    Jehee, Fernanda Sarquis; Rosenberg, Carla; Krepischi-Santos, Ana Cristina; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M; Opitz, John M; Passos-Bueno, Maria Rita

    2005-12-15

    FG syndrome is an X-linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1-4, through linkage analysis (Xq13, Xp22.3, and Xp11.4-p11.3) and based on the breakpoints of an X chromosome inversion (Xq11:Xq28), but so far no gene has been identified. We describe a boy with FG syndrome who has an inherited duplication at band Xq22.3 detected by comparative genomic hybridization microarray (Array-CGH). These duplication maps outside all four loci described so far for FG syndrome, representing therefore a new locus, which we propose to be called FGS5. MID2, a gene closely related to MID1, which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient. Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome. We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication. PMID:16283679

  1. 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

  2. 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

  3. 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

  4. 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...

  5. 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...

  6. 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...

  7. 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

  8. 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

  9. 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...

  10. 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...

  11. 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

  12. 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

  13. 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...

  14. 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...

  15. 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...

  16. 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...

  17. 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...

  18. 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

  19. 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

  20. 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,...

  1. Moving particle composition analyzer

    NASA Technical Reports Server (NTRS)

    Auer, S. O. (Inventor)

    1976-01-01

    A mass spectrometry apparatus for analyzing the composition of moving microscopic particles is introduced. The apparatus includes a capacitor with a front electrode upon which the particles impinge, a back electrode, and a solid dielectric sandwiched between the front and back electrodes. In one embodiment, the electrodes and dielectric are arcuately shaped as concentric peripheral segments of different spheres having a common center and different radii. The front electrode and dielectric together have a thickness such that an impinging particle can penetrate them. In a second embodiment, the capacitor has planar, parallel electrodes, in which case the ejected positive ions are deflected downstream of a planar grid by a pair of spaced, arcuate capacitor plates having a region between them through which the ejected ions travel.

  2. 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

  3. 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

  4. 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

  5. An unusual variant of the abducens nerve duplication with two nerve trunks merging within the orbit: a case report with comments on developmental background.

    PubMed

    Wysiadecki, Grzegorz; Polguj, Michał; Topol, Mirosław

    2016-07-01

    This study reports the first case of abducens nerve duplication along its entire intracranial course, ending within the orbit. A distinct abducens nerve duplication reaching the common tendinous ring (annulus of Zinn), as well as another split within the intraconal segment of the nerve have been revealed. Additionally, two groups (superior and inferior) of abducens nerve sub-branches to the lateral rectus muscle were visualised using Sihler's stain. The analysed anatomical variation has never been reported before and it seems to be in the middle of the spectrum between the cases of duplication occurring only within the intracranial segments of the abducens nerve found in the literature and those continuing throughout the whole course of the nerve. Abducens nerve duplication may be treated as a relic of early stages of ontogenesis. Such a variant might result from alternative developmental pathways in which axons of the abducens nerve, specific for a given segment of the lateral rectus muscle, run separately at some stage, instead of forming a single stem. PMID:26501961

  6. The polycystic kidney disease 1 gene lies in a duplicated genomic region

    SciTech Connect

    Ward, C.J.; Hughes, J.; Peral, B. |

    1994-09-01

    The polycystic kidney disease 1 (PKD1) gene is situated in chromosomal band 16p13.3 and encodes a 14 kb transcript. The 5{prime} region of the PKD1 gene is located within a 40-50 kb stretch of genomic DNA which is duplicated several times in the more proximal region, 16p13.1. This proximal area gives rise to at least three transcripts designated homologous gene A (HG-A; 21 kb), HG-B (17 kb) and HG-C (8.5 kb). These three transcripts share substantial homology with each other and the PKD1 transcript. However, the 3{prime} 3.8 kb section of the PKD1 transcript is unique because it is encoded by a region of the gene that lies outside the duplicated area. The presence of the duplicate transcripts in all tissues analyzed has hampered attempts to clone and sequence the bone fide PKD1 gene. Comparison of cDNAs known to arise from the PKD1 transcript to those from the HG transcripts reveals that divergence of 2-3% has occurred between these sequences. To overcome the problem of the duplication, a large 15 kb section of genomic DNA has been sequenced together with several large HG cDNAs. Utilizing a radiation hybrid which contains only the 16p13.3 region and expresses low levels of the PKD1 transcript, we are now attempting to clone the duplicated part of the PKD1 gene by exon linking.

  7. 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.

  8. 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.

  9. 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

  10. 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

  11. Increasing Enrollment through Benefit Segmentation.

    ERIC Educational Resources Information Center

    Goodnow, Betty

    1982-01-01

    The applicability of benefit segmentation, a market research technique which groups people according to benefits expected from a program offering, was tested at the College of DuPage. Preferences and demographic characteristics were analyzed and program improvements adopted, increasing enrollment by 20 percent. (Author/SK)

  12. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

    PubMed

    El Chehadeh, Salima; Faivre, Laurence; Mosca-Boidron, Anne-Laure; Malan, Valérie; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Callier, Patrick; Lefebvre, Mathilde; Marle, Nathalie; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Le Caignec, Cédric; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Goldenberg, Alice; Cormier-Daire, Valérie; Rio, Marlène; Bonnefont, Jean-Paul; Thevenon, Julien; Echenne, Bernard; Journel, Hubert; Afenjar, Alexandra; Burglen, Lydie; Bienvenu, Thierry; Addor, Marie-Claude; Lebon, Sébastien; Martinet, Danièle; Baumann, Clarisse; Perrin, Laurence; Drunat, Séverine; Jouk, Pierre-Simon; Devillard, Françoise; Coutton, Charles; Lacombe, Didier; Delrue, Marie-Ange; Philip, Nicole; Moncla, Anne; Badens, Catherine; Perreton, Nathalie; Masurel, Alice; Thauvin-Robinet, Christel; Des Portes, Vincent; Guibaud, Laurent

    2016-01-01

    Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between >+2SD in five patients and <-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment. PMID:26420639

  13. Comparative ruminant genomics highlights segmental duplication and mobile element insertion diversity

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We have expanded upon a previously reported comparative genomics approach using a read-depth (JaRMs) and a hybrid read-pair, split-read (RAPTR-SV) copy number variation (CNV) detection method that uses read alignments to the cattle reference genome in order to identify species-specific genomic rearr...

  14. Genome resilience and prevalence of segmental duplications following fast neutron irradiation of soybean

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fast neutron radiation has been used as a mutagen to develop extensive mutant collections. However, the genome-wide structural consequences of fast neutron radiation are not well understood. Here, we examine the genome-wide structural variants observed among 264 soybean (Glycine max (L.) Merrill) pl...

  15. Plutonium solution analyzer

    SciTech Connect

    Burns, D.A.

    1994-09-01

    A fully automated analyzer has been developed for plutonium solutions. It was assembled from several commercially available modules, is based upon segmented flow analysis, and exhibits precision about an order of magnitude better than commercial units (0.5%-O.05% RSD). The system was designed to accept unmeasured, untreated liquid samples in the concentration range 40-240 g/L and produce a report with sample identification, sample concentrations, and an abundance of statistics. Optional hydraulics can accommodate samples in the concentration range 0.4-4.0 g/L. Operating at a typical rate of 30 to 40 samples per hour, it consumes only 0.074 mL of each sample and standard, and generates waste at the rate of about 1.5 mL per minute. No radioactive material passes through its multichannel peristaltic pump (which remains outside the glovebox, uncontaminated) but rather is handled by a 6-port, 2-position chromatography-type loop valve. An accompanying computer is programmed in QuickBASIC 4.5 to provide both instrument control and data reduction. The program is truly user-friendly and communication between operator and instrument is via computer screen displays and keyboard. Two important issues which have been addressed are waste minimization and operator safety (the analyzer can run in the absence of an operator, once its autosampler has been loaded).

  16. 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

  17. 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.

  18. Surface-Based Morphometry of Cortical Thickness and Surface Area Associated with Heschl's Gyri Duplications in 430 Healthy Volunteers

    PubMed Central

    Marie, Damien; Maingault, Sophie; Crivello, Fabrice; Mazoyer, Bernard; Tzourio-Mazoyer, Nathalie

    2016-01-01

    We applied Surface-Based Morphometry to assess the variations in cortical thickness (CT) and cortical surface area (CSA) in relation to the occurrence of Heschl's gyrus (HG) duplications in each hemisphere. 430 healthy brains that had previously been classified as having a single HG, Common Stem Duplication (CSD) or Complete Posterior Duplication (CPD) in each hemisphere were analyzed. To optimally align the HG area across the different groups of gyrification, we computed a specific surface-based template composed of 40 individuals with a symmetrical HG gyrification pattern (20 single HG, 10 CPD, 10 CSD). After normalizing the 430 participants' T1 images to this specific template, we separately compared the groups constituted of participants with a single HG, CPD, and CSD in each hemisphere. The occurrence of a duplication in either hemisphere was associated with an increase in CT posterior to the primary auditory cortex. This may be the neural support of expertise or great abilities in either speech or music processing domains that were related with duplications by previous studies. A decrease in CSA in the planum temporale was detected in cases with duplication in the left hemisphere. In the right hemisphere, a medial decrease in CSA and a lateral increase in CSA were present in HG when a CPD occurred together with an increase in CSA in the depth of the superior temporal sulcus (STS) in CSD compared to a single HG. These variations associated with duplication might be related to the functions that they process jointly within each hemisphere: temporal and speech processing in the left and spectral and music processing in the right. PMID:27014013

  19. Massively Scalable Near Duplicate Detection in Streams of Documents using MDSH

    SciTech Connect

    Bogen, Paul Logasa; Symons, Christopher T; McKenzie, Amber T; Patton, Robert M; Gillen, Rob

    2013-01-01

    In a world where large-scale text collections are not only becoming ubiquitous but also are growing at increasing rates, near duplicate documents are becoming a growing concern that has the potential to hinder many different information filtering tasks. While others have tried to address this problem, prior techniques have only been used on limited collection sizes and static cases. We will briefly describe the problem in the context of Open Source Intelligence (OSINT) along with our additional constraints for performance. In this work we propose two variations on Multi-dimensional Spectral Hash (MDSH) tailored for working on extremely large, growing sets of text documents. We analyze the memory and runtime characteristics of our techniques and provide an informal analysis of the quality of the near-duplicate clusters produced by our techniques.

  20. Phasing piston error in segmented telescopes.

    PubMed

    Jiang, Junlun; Zhao, Weirui

    2016-08-22

    To achieve a diffraction-limited imaging, the piston errors between the segments of the segmented primary mirror telescope should be reduced to λ/40 RMS. We propose a method to detect the piston error by analyzing the intensity distribution on the image plane according to the Fourier optics principle, which can capture segments with the piston errors as large as the coherence length of the input light and reduce these to 0.026λ RMS (λ = 633nm). This method is adaptable to any segmented and deployable primary mirror telescope. Experiments have been carried out to validate the feasibility of the method. PMID:27557192

  1. Segmentation of endpoint trajectories does not imply segmented control.

    PubMed

    Sternad, D; Schaal, S

    1999-01-01

    While it is generally assumed that complex movements consist of a sequence of simpler units, the quest to define these units of action, or movement primitives, remains an open question. In this context, two hypotheses of movement segmentation of endpoint trajectories in three-dimensional human drawing movements are reexamined: (1) the stroke-based segmentation hypothesis based on the results that the proportionality coefficient of the two-thirds power law changes discontinuously with each new "stroke," and (2) the segmentation hypothesis inferred from the observation of piecewise planar endpoint trajectories of three-dimensional drawing movements. In two experiments human subjects performed a set of elliptical and figure eight patterns of different sizes and orientations using their whole arm in three dimensions. The kinematic characteristics of the endpoint trajectories and the seven joint angles of the arm were analyzed. While the endpoint trajectories produced similar segmentation features to those reported in the literature, analyses of the joint angles show no obvious segmentation but rather continuous oscillatory patterns. By approximating the joint angle data of human subjects with sinusoidal trajectories, and by implementing this model on a 7-degree-of-freedom (DOF) anthropomorphic robot arm, it is shown that such a continuous movement strategy can produce exactly the same features as observed by the above segmentation hypotheses. The origin of this apparent segmentation of endpoint trajectories is traced back to the nonlinear transformations of the forward kinematics of human arms. The presented results demonstrate that principles of discrete movement generation may not be reconciled with those of rhythmic movement as easily as has been previously suggested, while the generalization of nonlinear pattern generators to arm movements can offer an interesting alternative to approach the question of units of action. PMID:9928796

  2. 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)

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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...

  9. 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

  10. 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

  11. 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

  12. 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.

  13. Media segmentation using self-similarity decomposition

    NASA Astrophysics Data System (ADS)

    Foote, Jonathan T.; Cooper, Matthew L.

    2003-01-01

    We present a framework for analyzing the structure of digital media streams. Though our methods work for video, text, and audio, we concentrate on detecting the structure of digital music files. In the first step, spectral data is used to construct a similarity matrix calculated from inter-frame spectral similarity.The digital audio can be robustly segmented by correlating a kernel along the diagonal of the similarity matrix. Once segmented, spectral statistics of each segment are computed. In the second step,segments are clustered based on the self-similarity of their statistics. This reveals the structure of the digital music in a set of segment boundaries and labels. Finally, the music is summarized by selecting clusters with repeated segments throughout the piece. The summaries can be customized for various applications based on the structure of the original music.

  14. Evolution of the KCS gene family in plants: the history of gene duplication, sub/neofunctionalization and redundancy.

    PubMed

    Guo, Hai-Song; Zhang, Yan-Mei; Sun, Xiao-Qin; Li, Mi-Mi; Hang, Yue-Yu; Xue, Jia-Yu

    2016-04-01

    Very long-chain fatty acids (VLCFAs) play an important role in the survival and development of plants, and VLCFA synthesis is regulated by β-ketoacyl-CoA synthases (KCSs), which catalyze the condensation of an acyl-CoA with malonyl-CoA. Here, we present a genome-wide survey of the genes encoding these enzymes, KCS genes, in 28 species (26 genomes and two transcriptomes), which represents a large phylogenetic scale, and also reconstruct the evolutionary history of this gene family. KCS genes were initially single-copy genes in the green plant lineage; duplication resulted in five ancestral copies in land plants, forming five fundamental monophyletic groups in the phylogenetic tree. Subsequently, KCS genes duplicated to generate 11 genes of angiosperm origin, expanding up to 20-30 members in further-diverged angiosperm species. During this process, tandem duplications had only a small contribution, whereas polyploidy events and large-scale segmental duplications appear to be the main driving force. Accompanying this expansion were variations that led to the sub- and neofunctionalization of different members, resulting in specificity that is likely determined by the 3-D protein structure. Novel functions involved in other physiological processes emerged as well, though redundancy is also observed, largely among recent duplications. Conserved sites and variable sites of KCS proteins are also identified by statistical analysis. The variable sites are likely to be involved in the emergence of product specificity and catalytic power, and conserved sites are possibly responsible for the preservation of fundamental function. PMID:26563433

  15. Evolution of MicroRNA Genes in Oryza sativa and Arabidopsis thaliana: An Update of the Inverted Duplication Model

    PubMed Central

    Zhang, Yun; Jiang, Wen-kai; Gao, Li-zhi

    2011-01-01

    The origin and evolution of microRNA (miRNA) genes, which are of significance in tuning and buffering gene expressions in a number of critical cellular processes, have long attracted evolutionary biologists. However, genome-wide perspectives on their origins, potential mechanisms of their de novo generation and subsequent evolution remain largely unsolved in flowering plants. Here, genome-wide analyses of Oryza sativa and Arabidopsis thaliana revealed apparently divergent patterns of miRNA gene origins. A large proportion of miRNA genes in O. sativa were TE-related and MITE-related miRNAs in particular, whereas the fraction of these miRNA genes much decreased in A. thaliana. Our results show that the majority of TE-related and pseudogene-related miRNA genes have originated through inverted duplication instead of segmental or tandem duplication events. Based on the presented findings, we hypothesize and illustrate the four likely molecular mechanisms to de novo generate novel miRNA genes from TEs and pseudogenes. Our rice genome analysis demonstrates that non-MITEs and MITEs mediated inverted duplications have played different roles in de novo generating miRNA genes. It is confirmed that the previously proposed inverted duplication model may give explanations for non-MITEs mediated duplication events. However, many other miRNA genes, known from the earlier proposed model, were rather arisen from MITE transpositions into target genes to yield binding sites. We further investigated evolutionary processes spawned from de novo generated to maturely-formed miRNA genes and their regulatory systems. We found that miRNAs increase the tunability of some gene regulatory systems with low gene copy numbers. The results also suggest that gene balance effects may have largely contributed to the evolution of miRNA regulatory systems. PMID:22194805

  16. 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

  17. 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

  18. 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

  19. A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

    PubMed Central

    2014-01-01

    Background Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. Many examples of inversion polymorphisms exist in human, affecting both heterochromatic regions and euchromatin. Results We describe a novel, 15 Mb long paracentric inversion, inv(21)(q21.1q22.11), affecting more than a third of human 21q. Despite of its length, the inversion cannot be detected using karyotyping due to similar band patterns on the normal and inverted chromosomes, and is therefore likely to escape attention. Its identification was aided by the repeated observation of the same pair of 150 kb long duplications present in cis on chromosome 21 in three Czech families subjected to microarray analysis. The finding prompted us to hypothesise that this co-occurrence of two remote duplications could be associated with an inversion of the intervening segment, and this speculation turned out to be right. The inversion was confirmed in a series of FISH experiments which also showed that the second copy of each of the duplications was always located at the opposite end of the inversion. The presence of the same pair of duplications in additional individuals reported in public databases indicates that the inversion may also be present in other populations. Three out of the total of about 4000 chromosomes 21 examined in our sample carried the duplications and were inverted, corresponding to carrier frequency of about 1/660. Although the breakpoints affect protein-coding genes, the occurrence of the inversion in normal parents and siblings of our patients and the occurrence of the duplications in unaffected controls in databases indicate that this rare variant is rather non-pathogenic. The inverted segment carried an identical shared haplotype in the three families studied. The haplotypes, however, diverged very rapidly in the flanking regions, possibly pointing to an ancient founder event at

  20. 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

  1. Duplication, divergence and persistence in the Phytochrome photoreceptor gene family of cottons (Gossypium spp.)

    PubMed Central

    2010-01-01

    Background Phytochromes are a family of red/far-red photoreceptors that regulate a number of important developmental traits in cotton (Gossypium spp.), including plant architecture, fiber development, and photoperiodic flowering. Little is known about the composition and evolution of the phytochrome gene family in diploid (G. herbaceum, G. raimondii) or allotetraploid (G. hirsutum, G. barbadense) cotton species. The objective of this study was to obtain a preliminary inventory and molecular-evolutionary characterization of the phytochrome gene family in cotton. Results We used comparative sequence resources to design low-degeneracy PCR primers that amplify genomic sequence tags (GSTs) for members of the PHYA, PHYB/D, PHYC and PHYE gene sub-families from A- and D-genome diploid and AD-genome allotetraploid Gossypium species. We identified two paralogous PHYA genes (designated PHYA1 and PHYA2) in diploid cottons, the result of a Malvaceae-specific PHYA gene duplication that occurred approximately 14 million years ago (MYA), before the divergence of the A- and D-genome ancestors. We identified a single gene copy of PHYB, PHYC, and PHYE in diploid cottons. The allotetraploid genomes have largely retained the complete gene complements inherited from both of the diploid genome ancestors, with at least four PHYA genes and two genes encoding PHYB, PHYC and PHYE in the AD-genomes. We did not identify a PHYD gene in any cotton genomes examined. Conclusions Detailed sequence analysis suggests that phytochrome genes retained after duplication by segmental duplication and allopolyploidy appear to be evolving independently under a birth-and-death-process with strong purifying selection. Our study provides a preliminary phytochrome gene inventory that is necessary and sufficient for further characterization of the biological functions of each of the cotton phytochrome genes, and for the development of 'candidate gene' markers that are potentially useful for cotton improvement via

  2. Assessing duplication and loss of APETALA1/FRUITFULL homologs in Ranunculales

    PubMed Central

    Pabón-Mora, Natalia; Hidalgo, Oriane; Gleissberg, Stefan; Litt, Amy

    2013-01-01

    Gene duplication and loss provide raw material for evolutionary change within organismal lineages as functional diversification of gene copies provide a mechanism for phenotypic variation. Here we focus on the APETALA1/FRUITFULL MADS-box gene lineage evolution. AP1/FUL genes are angiosperm-specific and have undergone several duplications. By far the most significant one is the core-eudicot duplication resulting in the euAP1 and euFUL clades. Functional characterization of several euAP1 and euFUL genes has shown that both function in proper floral meristem identity, and axillary meristem repression. Independently, euAP1 genes function in floral meristem and sepal identity, whereas euFUL genes control phase transition, cauline leaf growth, compound leaf morphogenesis and fruit development. Significant functional variation has been detected in the function of pre-duplication basal-eudicot FUL-like genes, but the underlying mechanisms for change have not been identified. FUL-like genes in the Papaveraceae encode all functions reported for euAP1 and euFUL genes, whereas FUL-like genes in Aquilegia (Ranunculaceae) function in inflorescence development and leaf complexity, but not in flower or fruit development. Here we isolated FUL-like genes across the Ranunculales and used phylogenetic approaches to analyze their evolutionary history. We identified an early duplication resulting in the RanFL1 and RanFL2 clades. RanFL1 genes were present in all the families sampled and are mostly under strong negative selection in the MADS, I and K domains. RanFL2 genes were only identified from Eupteleaceae, Papaveraceae s.l., Menispermaceae and Ranunculaceae and show relaxed purifying selection at the I and K domains. We discuss how asymmetric sequence diversification, new motifs, differences in codon substitutions and likely protein-protein interactions resulting from this Ranunculiid-specific duplication can help explain the functional differences among basal-eudicot FUL-like genes

  3. Assessing duplication and loss of APETALA1/FRUITFULL homologs in Ranunculales.

    PubMed

    Pabón-Mora, Natalia; Hidalgo, Oriane; Gleissberg, Stefan; Litt, Amy

    2013-01-01

    Gene duplication and loss provide raw material for evolutionary change within organismal lineages as functional diversification of gene copies provide a mechanism for phenotypic variation. Here we focus on the APETALA1/FRUITFULL MADS-box gene lineage evolution. AP1/FUL genes are angiosperm-specific and have undergone several duplications. By far the most significant one is the core-eudicot duplication resulting in the euAP1 and euFUL clades. Functional characterization of several euAP1 and euFUL genes has shown that both function in proper floral meristem identity, and axillary meristem repression. Independently, euAP1 genes function in floral meristem and sepal identity, whereas euFUL genes control phase transition, cauline leaf growth, compound leaf morphogenesis and fruit development. Significant functional variation has been detected in the function of pre-duplication basal-eudicot FUL-like genes, but the underlying mechanisms for change have not been identified. FUL-like genes in the Papaveraceae encode all functions reported for euAP1 and euFUL genes, whereas FUL-like genes in Aquilegia (Ranunculaceae) function in inflorescence development and leaf complexity, but not in flower or fruit development. Here we isolated FUL-like genes across the Ranunculales and used phylogenetic approaches to analyze their evolutionary history. We identified an early duplication resulting in the RanFL1 and RanFL2 clades. RanFL1 genes were present in all the families sampled and are mostly under strong negative selection in the MADS, I and K domains. RanFL2 genes were only identified from Eupteleaceae, Papaveraceae s.l., Menispermaceae and Ranunculaceae and show relaxed purifying selection at the I and K domains. We discuss how asymmetric sequence diversification, new motifs, differences in codon substitutions and likely protein-protein interactions resulting from this Ranunculiid-specific duplication can help explain the functional differences among basal-eudicot FUL-like genes

  4. Genomic analysis reveals extensive gene duplication within the bovine TRB locus

    PubMed Central

    Connelley, Timothy; Aerts, Jan; Law, Andy; Morrison, W Ivan

    2009-01-01

    Background Diverse TR and IG repertoires are generated by V(D)J somatic recombination. Genomic studies have been pivotal in cataloguing the V, D, J and C genes present in the various TR/IG loci and describing how duplication events have expanded the number of these genes. Such studies have also provided insights into the evolution of these loci and the complex mechanisms that regulate TR/IG expression. In this study we analyze the sequence of the third bovine genome assembly to characterize the germline repertoire of bovine TRB genes and compare the organization, evolution and regulatory structure of the bovine TRB locus with that of humans and mice. Results The TRB locus in the third bovine genome assembly is distributed over 5 scaffolds, extending to ~730 Kb. The available sequence contains 134 TRBV genes, assigned to 24 subgroups, and 3 clusters of DJC genes, each comprising a single TRBD gene, 5–7 TRBJ genes and a single TRBC gene. Seventy-nine of the TRBV genes are predicted to be functional. Comparison with the human and murine TRB loci shows that the gene order, as well as the sequences of non-coding elements that regulate TRB expression, are highly conserved in the bovine. Dot-plot analyses demonstrate that expansion of the genomic TRBV repertoire has occurred via a complex and extensive series of duplications, predominantly involving DNA blocks containing multiple genes. These duplication events have resulted in massive expansion of several TRBV subgroups, most notably TRBV6, 9 and 21 which contain 40, 35 and 16 members respectively. Similarly, duplication has lead to the generation of a third DJC cluster. Analyses of cDNA data confirms the diversity of the TRBV genes and, in addition, identifies a substantial number of TRBV genes, predominantly from the larger subgroups, which are still absent from the genome assembly. The observed gene duplication within the bovine TRB locus has created a repertoire of phylogenetically diverse functional TRBV genes

  5. Sipunculans and segmentation

    PubMed Central

    Kristof, Alen; Brinkmann, Nora

    2009-01-01

    Comparative molecular, developmental and morphogenetic analyses show that the three major segmented animal groups—Lophotrochozoa, Ecdysozoa and Vertebrata—use a wide range of ontogenetic pathways to establish metameric body organization. Even in the life history of a single specimen, different mechanisms may act on the level of gene expression, cell proliferation, tissue differentiation and organ system formation in individual segments. Accordingly, in some polychaete annelids the first three pairs of segmental peripheral neurons arise synchronously, while the metameric commissures of the ventral nervous system form in anterior-posterior progression. Contrary to traditional belief, loss of segmentation may have occurred more often than commonly assumed, as exemplified in the sipunculans, which show remnants of segmentation in larval stages but are unsegmented as adults. The developmental plasticity and potential evolutionary lability of segmentation nourishes the controversy of a segmented bilaterian ancestor versus multiple independent evolution of segmentation in respective metazoan lineages. PMID:19513266

  6. Segmented trapped vortex cavity

    NASA Technical Reports Server (NTRS)

    Grammel, Jr., Leonard Paul (Inventor); Pennekamp, David Lance (Inventor); Winslow, Jr., Ralph Henry (Inventor)

    2010-01-01

    An annular trapped vortex cavity assembly segment comprising includes a cavity forward wall, a cavity aft wall, and a cavity radially outer wall there between defining a cavity segment therein. A cavity opening extends between the forward and aft walls at a radially inner end of the assembly segment. Radially spaced apart pluralities of air injection first and second holes extend through the forward and aft walls respectively. The segment may include first and second expansion joint features at distal first and second ends respectively of the segment. The segment may include a forward subcomponent including the cavity forward wall attached to an aft subcomponent including the cavity aft wall. The forward and aft subcomponents include forward and aft portions of the cavity radially outer wall respectively. A ring of the segments may be circumferentially disposed about an axis to form an annular segmented vortex cavity assembly.

  7. [Bilateral segmental neurofibromatosis].

    PubMed

    Rose, I; Vakilzadeh, F

    1991-12-01

    Segmental neurofibromatosis is a rare type of neurofibromatosis. We report a case of bilateral manifestation, review the literature on this extremely uncommon variant, and discuss the possible causative mechanisms and the genetic risk of segmental neurofibromatosis. PMID:1765491

  8. Station Tour: Russian Segment

    NASA Video Gallery

    Expedition 33 Commander Suni Williams concludes her tour of the International Space Station with a visit to the Russian segment, which includes Zarya, the first segment of the station launched in 1...

  9. Heuristic segmentation of a nonstationary time series

    NASA Astrophysics Data System (ADS)

    Fukuda, Kensuke; Eugene Stanley, H.; Nunes Amaral, Luís A.

    2004-02-01

    Many phenomena, both natural and human influenced, give rise to signals whose statistical properties change under time translation, i.e., are nonstationary. For some practical purposes, a nonstationary time series can be seen as a concatenation of stationary segments. However, the exact segmentation of a nonstationary time series is a hard computational problem which cannot be solved exactly by existing methods. For this reason, heuristic methods have been proposed. Using one such method, it has been reported that for several cases of interest—e.g., heart beat data and Internet traffic fluctuations—the distribution of durations of these stationary segments decays with a power-law tail. A potential technical difficulty that has not been thoroughly investigated is that a nonstationary time series with a (scalefree) power-law distribution of stationary segments is harder to segment than other nonstationary time series because of the wider range of possible segment lengths. Here, we investigate the validity of a heuristic segmentation algorithm recently proposed by Bernaola-Galván et al. [Phys. Rev. Lett. 87, 168105 (2001)] by systematically analyzing surrogate time series with different statistical properties. We find that if a given nonstationary time series has stationary periods whose length is distributed as a power law, the algorithm can split the time series into a set of stationary segments with the correct statistical properties. We also find that the estimated power-law exponent of the distribution of stationary-segment lengths is affected by (i) the minimum segment length and (ii) the ratio R≡σɛ/σx¯, where σx¯ is the standard deviation of the mean values of the segments and σɛ is the standard deviation of the fluctuations within a segment. Furthermore, we determine that the performance of the algorithm is generally not affected by uncorrelated noise spikes or by weak long-range temporal correlations of the fluctuations within segments.

  10. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication

    SciTech Connect

    Wise, C.A.; Davis, S.N.; Heju, Z.; Pentao, L.; Patel, P.I.; Lupski, J.R. ); Garcia, C.A. )

    1993-10-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased nerve conduction velocities, usually shows autosomal dominant inheritance, and is associated with a large submicroscopic duplication of the p11.2-p12 region of chromosome 17. A cohort of 75 unrelated patients diagnosed clinically with CMT and evaluated by electrophysiological methods were analyzed molecularly for the presence of the CMT1A DNA duplication. Three methodologies were used to assess the duplication: Measurement of dosage differences between RFLP alleles, analysis of polymorphic (GT)[sub n] repeats, and detection of a junction fragment by pulsed-field gel electrophoresis. The CMT1A duplication was found in 68% of the 63 unrelated CMT patients with electrophysiological studies consistent with CMT type 1 (CMT1). The CMT1A duplication was detected as a de novo event in two CMT1 families. Twelve CMT patients who did not have decreased nerve conduction velocities consistent with a diagnosis of CMT type 2 (CMT2) were found not to have the CMT1A duplication. The most informative molecular method was the detection of the CMT1A duplication-specific junction fragment. Given the high frequency of the CMT1A duplication in CMT patients and the high frequency of new mutations, the authors conclude that a molecular test for the CMT1A DNA duplication is very useful in the differential diagnosis of patients with peripheral neuropathies. 61 refs., 4 figs.

  11. Non-supervised macro segmentation of large-scale TV videos

    NASA Astrophysics Data System (ADS)

    Bai, Hongliang; Dong, Chengyu; Wang, Lezi; Qin, Gang; Tao, Kun; Chang, Xiaofu; Dong, Yuan

    2011-02-01

    In this paper, a novel non-supervised macro segmentation algorithm is presented by detecting duplicate sequences of large-scale TV videos. Motivated by the fact that "Inter-Programs" are repeatedly inserted into the TV videos, the macro structure of the videos can be effectively and automatically generated by identifying the special sequences. There are four sections in the algorithm, namely, keyframe extraction, discrete cosine transformbased feature generation(a fixed-size 64D signature), Locality-Sensitive Hashing (LSH)-based frame retrieval and macro segmentation through the duplicated sequence detection and the dynamic programming. The main contributions are: (1) supply one effective and efficient algorithm for the macro segmentation in the large-scale TV videos, (2) LSH can quickly query the similar frames, and (3) the non-supervised learned duplicate sequence models are used to find the lost duplicate sequences by the dynamic programming. The algorithm has been tested in 15-day different-type TV streams. The F-measure of the system is greater than 96%. The experiments show that it is efficient and effective for the macro segmentation.

  12. Deletions or duplications in the BtuB protein affect its level in the outer membrane of Escherichia coli.

    PubMed Central

    Köster, W; Gudmundsdottir, A; Lundrigan, M D; Seiffert, A; Kadner, R J

    1991-01-01

    The Escherichia coli btuB product is an outer membrane protein that mediates the TonB-coupled active transport of cobalamins and the uptake of the E colicins and bacteriophage BF23. The roles of various segments of the BtuB protein in its function or cellular localization were investigated by analysis of several genetic constructs. Hybrid proteins in which various lengths from the amino terminus of BtuB were linked to alkaline phosphatase (btuB::phoA genes) were all secreted across the cytoplasmic membrane. The BtuB-PhoA proteins that carried up to 327 amino acids of BtuB appeared to reside in the periplasmic space, whereas hybrid proteins containing at least 399 amino acids of BtuB were associated with the outer membrane. Eleven in-frame internal deletion mutations that spanned more than half of the mature sequence were prepared by combining appropriate restriction fragments from btuB variants with 6-bp linker insertions. None of the deleted proteins was able to complement any BtuB functions, and only three of them were detectable in the outer membrane, suggesting that most of the deletions affected sequences needed for stable association with the outer membrane. Duplications covering the same portions of BtuB were prepared in the same manner. All of these partial duplication variants complemented all BtuB functions, although some gave substantially reduced levels of activity. These proteins were found in the outer membrane, although some were subject to proteolytic cleavage within or near the duplicated segment. These results indicate that the insertion of BtuB into the outer membrane requires the presence of several regions of teh BtuB protein and that the presence of extra or redundant segments of the protein can be tolerated during its insertion and function. Images PMID:1885541

  13. Possible and Impossible Segments.

    ERIC Educational Resources Information Center

    Walker, Rachel; Pullum, Geoffrey K.

    1999-01-01

    Examines the relationship between phonetic possibility and phonological permissibility of segment types. Specific focus is on whether there are any phonetically impossible segments phonologically permissible, and whether there are any phonetically possible segments phonologically impermissable. Examines the case of nasality spreading in Sudanese…

  14. [Malformations (duplications) of the terminal ileum in adults. Report of 3 unusual cases].

    PubMed

    Bauer, E; Pirozynski, W J; Hegglin, J

    1987-08-01

    Three cases of rare malformations of the ileo-cecal region (duplications) are discussed and compared to 20 others of the same kind already published. The main characteristics are an inflammatory symptomatology, especially in the right hypogastrium, with periodic recurrences. Since the clinical, radiological, endoscopic and biopsy findings often simulate Crohn's disease, patients must frequently undergo years of unsuccessful medical treatment and innumerable follow-up examinations. Nevertheless, when certain findings are taken into consideration they can lead to correct diagnosis of this rare disease, which is established through pathological anatomy. The special features of the disease are described in detail. It can be definitively cured through resection of the ileo-cecal segment. PMID:3659874

  15. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

    PubMed Central

    Lagerström-Fermér, M; Sundvall, M; Johnsen, E; Warne, G L; Forrest, S M; Zajac, J D; Rickards, A; Ravine, D; Landegren, U; Pettersson, U

    1997-01-01

    We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary. Images Figure 2 PMID:9106538

  16. Large Scale Near-Duplicate Celebrity Web Images Retrieval Using Visual and Textual Features

    PubMed Central

    Wang, Cheng; Zhang, Xin; Wang, Hui

    2013-01-01

    Near-duplicate image retrieval is a classical research problem in computer vision toward many applications such as image annotation and content-based image retrieval. On the web, near-duplication is more prevalent in queries for celebrities and historical figures which are of particular interest to the end users. Existing methods such as bag-of-visual-words (BoVW) solve this problem mainly by exploiting purely visual features. To overcome this limitation, this paper proposes a novel text-based data-driven reranking framework, which utilizes textual features and is combined with state-of-art BoVW schemes. Under this framework, the input of the retrieval procedure is still only a query image. To verify the proposed approach, a dataset of 2 million images of 1089 different celebrities together with their accompanying texts is constructed. In addition, we comprehensively analyze the different categories of near duplication observed in our constructed dataset. Experimental results on this dataset show that the proposed framework can achieve higher mean average precision (mAP) with an improvement of 21% on average in comparison with the approaches based only on visual features, while does not notably prolong the retrieval time. PMID:24163631

  17. 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

  18. 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…

  19. 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

  20. Automatic evaluation of uterine cervix segmentations

    NASA Astrophysics Data System (ADS)

    Lotenberg, Shelly; Gordon, Shiri; Long, Rodney; Antani, Sameer; Jeronimo, Jose; Greenspan, Hayit

    2007-03-01

    In this work we focus on the generation of reliable ground truth data for a large medical repository of digital cervicographic images (cervigrams) collected by the National Cancer Institute (NCI). This work is part of an ongoing effort conducted by NCI together with the National Library of Medicine (NLM) at the National Institutes of Health (NIH) to develop a web-based database of the digitized cervix images in order to study the evolution of lesions related to cervical cancer. As part of this effort, NCI has gathered twenty experts to manually segment a set of 933 cervigrams into regions of medical and anatomical interest. This process yields a set of images with multi-expert segmentations. The objectives of the current work are: 1) generate multi-expert ground truth and assess the diffculty of segmenting an image, 2) analyze observer variability in the multi-expert data, and 3) utilize the multi-expert ground truth to evaluate automatic segmentation algorithms. The work is based on STAPLE (Simultaneous Truth and Performance Level Estimation), which is a well known method to generate ground truth segmentation maps from multiple experts' observations. We have analyzed both intra- and inter-expert variability within the segmentation data. We propose novel measures of "segmentation complexity" by which we can automatically identify cervigrams that were found difficult to segment by the experts, based on their inter-observer variability. Finally, the results are used to assess our own automated algorithm for cervix boundary detection.

  1. Multi-segment detector

    NASA Technical Reports Server (NTRS)

    George, Peter K. (Inventor)

    1978-01-01

    A plurality of stretcher detector segments are connected in series whereby detector signals generated when a bubble passes thereby are added together. Each of the stretcher detector segments is disposed an identical propagation distance away from passive replicators wherein bubbles are replicated from a propagation path and applied, simultaneously, to the stretcher detector segments. The stretcher detector segments are arranged to include both dummy and active portions thereof which are arranged to permit the geometry of both the dummy and active portions of the segment to be substantially matched.

  2. DT-MRI segmentation using graph cuts

    NASA Astrophysics Data System (ADS)

    Weldeselassie, Yonas T.; Hamarneh, Ghassan

    2007-03-01

    An important problem in medical image analysis is the segmentation of anatomical regions of interest. Once regions of interest are segmented, one can extract shape, appearance, and structural features that can be analyzed for disease diagnosis or treatment evaluation. Diffusion tensor magnetic resonance imaging (DT-MRI) is a relatively new medical imaging modality that captures unique water diffusion properties and fiber orientation information of the imaged tissues. In this paper, we extend the interactive multidimensional graph cuts segmentation technique to operate on DT-MRI data by utilizing latest advances in tensor calculus and diffusion tensor dissimilarity metrics. The user interactively selects certain tensors as object ("obj") or background ("bkg") to provide hard constraints for the segmentation. Additional soft constraints incorporate information about both regional tissue diffusion as well as boundaries between tissues of different diffusion properties. Graph cuts are used to find globally optimal segmentation of the underlying 3D DT-MR image among all segmentations satisfying the constraints. We develop a graph structure from the underlying DT-MR image with the tensor voxels corresponding to the graph vertices and with graph edge weights computed using either Log-Euclidean or the J-divergence tensor dissimilarity metric. The topology of our segmentation is unrestricted and both obj and bkg segments may consist of several isolated parts. We test our method on synthetic DT data and apply it to real 2D and 3D MRI, providing segmentations of the corpus callosum in the brain and the ventricles of the heart.

  3. Color image segmentation

    NASA Astrophysics Data System (ADS)

    McCrae, Kimberley A.; Ruck, Dennis W.; Rogers, Steven K.; Oxley, Mark E.

    1994-03-01

    The most difficult stage of automated target recognition is segmentation. Current segmentation problems include faces and tactical targets; previous efforts to segment these objects have used intensity and motion cues. This paper develops a color preprocessing scheme to be used with the other segmentation techniques. A neural network is trained to identify the color of a desired object, eliminating all but that color from the scene. Gabor correlations and 2D wavelet transformations will be performed on stationary images; and 3D wavelet transforms on multispectral data will incorporate color and motion detection into the machine visual system. The paper will demonstrate that color and motion cues can enhance a computer segmentation system. Results from segmenting faces both from the AFIT data base and from video taped television are presented; results from tactical targets such as tanks and airplanes are also given. Color preprocessing is shown to greatly improve the segmentation in most cases.

  4. [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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. Analysis of Duplicated Multiple-Samples Rank Data Using the Mack-Skillings Test.

    PubMed

    Carabante, Kennet Mariano; Alonso-Marenco, Jose Ramon; Chokumnoyporn, Napapan; Sriwattana, Sujinda; Prinyawiwatkul, Witoon

    2016-07-01

    Appropriate analysis for duplicated multiple-samples rank data is needed. This study compared analysis of duplicated rank preference data using the Friedman versus Mack-Skillings tests. Panelists (n = 125) ranked twice 2 orange juice sets: different-samples set (100%, 70%, vs. 40% juice) and similar-samples set (100%, 95%, vs. 90%). These 2 sample sets were designed to get contrasting differences in preference. For each sample set, rank sum data were obtained from (1) averaged rank data of each panelist from the 2 replications (n = 125), (2) rank data of all panelists from each of the 2 separate replications (n = 125 each), (3) jointed rank data of all panelists from the 2 replications (n = 125), and (4) rank data of all panelists pooled from the 2 replications (n = 250); rank data (1), (2), and (4) were separately analyzed by the Friedman test, although those from (3) by the Mack-Skillings test. The effect of sample sizes (n = 10 to 125) was evaluated. For the similar-samples set, higher variations in rank data from the 2 replications were observed; therefore, results of the main effects were more inconsistent among methods and sample sizes. Regardless of analysis methods, the larger the sample size, the higher the χ(2) value, the lower the P-value (testing H0 : all samples are not different). Analyzing rank data (2) separately by replication yielded inconsistent conclusions across sample sizes, hence this method is not recommended. The Mack-Skillings test was more sensitive than the Friedman test. Furthermore, it takes into account within-panelist variations and is more appropriate for analyzing duplicated rank data. PMID:27240170

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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.

  16. Directed Synthesis of a Segmental Chromosomal Transposition: An Approach to the Study of Chromosomes Lethal to the Gametophyte Generation of Maize

    PubMed Central

    Birchler, J. A.; Levin, D. M.

    1991-01-01

    Because of the haploid nature of the gametophyte generation of plants, most mutations that are lethal or detrimental to the gametophytes cannot be recovered. Our laboratory is currently developing several techniques to overcome this situation. In this paper, a procedure is described to generate directed segmental chromosomal transpositions. The method involves recovery of recombinants between reciprocal translocation overlaps such that one region of the genome is inserted into a nonhomologous chromosome in a predetermined and directed manner. This duplicated segment then could serve to cover deficiencies or mutations, lethal to the gametophytes, in the region from whence it originated. The manipulation of segmental chromosomal transpositions for analyzing mutants lethal or detrimental to the gametophyte generation is discussed. The procedure to generate transpositions, the translocations between normal A and supernumerary B chromosomes that generate deficiencies in the male gametes, the r-X1 chromosome that generates deficiencies in the female gametes and other techniques available in maize form a system to analyze gametophyte lethal mutations. PMID:2016056

  17. [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

  18. 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

  19. 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

  20. 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

  1. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

    PubMed Central

    2012-01-01

    Background Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication. Methods We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization. Results We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that BHLHA9, YWHAE, and CRK genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted. Conclusions We report an additional familial case of small 17p13.3 chromosomal duplication including only BHLHA9, YWHAE, and CRK genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications. PMID:23035971

  2. Impact assisted segmented cutterhead

    DOEpatents

    Morrell, Roger J.; Larson, David A.; Ruzzi, Peter L.

    1992-01-01

    An impact assisted segmented cutterhead device is provided for cutting various surfaces from coal to granite. The device comprises a plurality of cutting bit segments deployed in side by side relationship to form a continuous cutting face and a plurality of impactors individually associated with respective cutting bit segments. An impactor rod of each impactor connects that impactor to the corresponding cutting bit segment. A plurality of shock mounts dampening the vibration from the associated impactor. Mounting brackets are used in mounting the cutterhead to a base machine.

  3. Efficient Algorithms for Segmentation of Item-Set Time Series

    NASA Astrophysics Data System (ADS)

    Chundi, Parvathi; Rosenkrantz, Daniel J.

    We propose a special type of time series, which we call an item-set time series, to facilitate the temporal analysis of software version histories, email logs, stock market data, etc. In an item-set time series, each observed data value is a set of discrete items. We formalize the concept of an item-set time series and present efficient algorithms for segmenting a given item-set time series. Segmentation of a time series partitions the time series into a sequence of segments where each segment is constructed by combining consecutive time points of the time series. Each segment is associated with an item set that is computed from the item sets of the time points in that segment, using a function which we call a measure function. We then define a concept called the segment difference, which measures the difference between the item set of a segment and the item sets of the time points in that segment. The segment difference values are required to construct an optimal segmentation of the time series. We describe novel and efficient algorithms to compute segment difference values for each of the measure functions described in the paper. We outline a dynamic programming based scheme to construct an optimal segmentation of the given item-set time series. We use the item-set time series segmentation techniques to analyze the temporal content of three different data sets—Enron email, stock market data, and a synthetic data set. The experimental results show that an optimal segmentation of item-set time series data captures much more temporal content than a segmentation constructed based on the number of time points in each segment, without examining the item set data at the time points, and can be used to analyze different types of temporal data.

  4. Preparing and Analyzing Iced Airfoils

    NASA Technical Reports Server (NTRS)

    Vickerman, Mary B.; Baez, Marivell; Braun, Donald C.; Cotton, Barbara J.; Choo, Yung K.; Coroneos, Rula M.; Pennline, James A.; Hackenberg, Anthony W.; Schilling, Herbert W.; Slater, John W.; Burke, Kevin M.; Nolan, Gerald J.; Brown, Dennis

    2004-01-01

    SmaggIce version 1.2 is a computer program for preparing and analyzing iced airfoils. It includes interactive tools for (1) measuring ice-shape characteristics, (2) controlled smoothing of ice shapes, (3) curve discretization, (4) generation of artificial ice shapes, and (5) detection and correction of input errors. Measurements of ice shapes are essential for establishing relationships between characteristics of ice and effects of ice on airfoil performance. The shape-smoothing tool helps prepare ice shapes for use with already available grid-generation and computational-fluid-dynamics software for studying the aerodynamic effects of smoothed ice on airfoils. The artificial ice-shape generation tool supports parametric studies since ice-shape parameters can easily be controlled with the artificial ice. In such studies, artificial shapes generated by this program can supplement simulated ice obtained from icing research tunnels and real ice obtained from flight test under icing weather condition. SmaggIce also automatically detects geometry errors such as tangles or duplicate points in the boundary which may be introduced by digitization and provides tools to correct these. By use of interactive tools included in SmaggIce version 1.2, one can easily characterize ice shapes and prepare iced airfoils for grid generation and flow simulations.

  5. Ancient intron insertion sites and palindromic genomic duplication evolutionally shapes an elementally functioning membrane protein family

    PubMed Central

    Tanaka-Kunishima, Motoko; Ishida, Yoshihiro; Takahashi, Kunitaro; Honda, Motoo; Oonuma, Takashi

    2007-01-01

    Background In spite of the recent accumulation of genomic data, the evolutionary pathway in the individual genes of present-day living taxa is still elusive for most genes. Among ion channels, inward K+ rectifier (IRK) channels are the fundamental and well-defined protein group. We analyzed the genomic structures of this group and compared them among a phylogenetically wide range with our sequenced Halocynthia roretzi, a tunicate, IRK genomic genes. Results A total of 131 IRK genomic genes were analyzed. The phylogenic trees of amino acid sequences revealed a clear diversification of deuterostomic IRKs from protostomic IRKs and suggested that the tunicate IRKs are possibly representatives of the descendants of ancestor forms of three major groups of IRKs in the vertebrate. However, the exon-intron structures of the tunicate IRK genomes showed considerable similarities to those of Caenorhabditis. In the vertebrate clade, the members in each major group increased at least four times those in the tunicate by various types of global gene duplication. The generation of some major groups was inferred to be due to anti-tandem (palindromic) duplication in early history. The intron insertion points greatly decreased during the evolution of the vertebrates, remaining as a unique conservation of an intron insertion site in the portion of protein-protein interaction within the coding regions of all vertebrate G-protein-activated IRK genes. Conclusion From the genomic survey of a family of IRK genes, it was suggested that the ancient intron insertion sites and the unique palindromic genomic duplication evolutionally shaped this membrane protein family. PMID:17708769

  6. A comprehensive segmentation analysis of crude oil market based on time irreversibility

    NASA Astrophysics Data System (ADS)

    Xia, Jianan; Shang, Pengjian; Lu, Dan; Yin, Yi

    2016-05-01

    In this paper, we perform a comprehensive entropic segmentation analysis of crude oil future prices from 1983 to 2014 which used the Jensen-Shannon divergence as the statistical distance between segments, and analyze the results from original series S and series begin at 1986 (marked as S∗) to find common segments which have same boundaries. Then we apply time irreversibility analysis of each segment to divide all segments into two groups according to their asymmetry degree. Based on the temporal distribution of the common segments and high asymmetry segments, we figure out that these two types of segments appear alternately and do not overlap basically in daily group, while the common portions are also high asymmetry segments in weekly group. In addition, the temporal distribution of the common segments is fairly close to the time of crises, wars or other events, because the hit from severe events to oil price makes these common segments quite different from their adjacent segments. The common segments can be confirmed in daily group series, or weekly group series due to the large divergence between common segments and their neighbors. While the identification of high asymmetry segments is helpful to know the segments which are not affected badly by the events and can recover to steady states automatically. Finally, we rearrange the segments by merging the connected common segments or high asymmetry segments into a segment, and conjoin the connected segments which are neither common nor high asymmetric.

  7. 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

  8. 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 ...

  9. 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...

  10. 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...

  11. 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...

  12. 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...

  13. 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

  14. 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...

  15. 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...

  16. 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...

  17. 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...

  18. 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...

  19. 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...

  20. 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...

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. a Segment-Based Approach for DTM Derivation of Airborne LIDAR Data

    NASA Astrophysics Data System (ADS)

    Tang, Dejin; Zhou, Xiaoming; Jiang, Jie; Li, Caiping

    2016-06-01

    With the characteristics of LIDAR system, raw point clouds represent both terrain and non-terrain surface. In order to generate DTM, the paper introduces one improved filtering method based on the segment-based algorithms. The method generates segments by clustering points based on surface fitting and uses topological and geometric properties for classification. In the process, three major steps are involved. First, the whole datasets is split into several small overlapping tiles. For each tile, by removing wall and vegetation points, accurate segments are found. The segments from all tiles are assigned unique segment number. In the following step, topological descriptions for the segment distribution pattern and height jump between adjacent segments are identified in each tile. Based on the topology and geometry, segment-based filtering algorithm is performed for classification in each tile. Then, based on the spatial location of the segment in one tile, two confidence levels are assigned to the classified segments. The segments with low confidence level are because of losing geometric or topological information in one tile. Thus, a combination algorithm is generated to detect corresponding parts of incomplete segment from multiple tiles. Then another classification algorithm is performed for these segments. The result of these segments will have high confidence level. After that, all the segments in one tile have high confidence level of classification result. The final DTM will add all the terrain segments and avoid duplicate points. At the last of the paper, the experiment show the filtering result and be compared with the other classical filtering methods, the analysis proves the method has advantage in the precision of DTM. But because of the complicated algorithms, the processing speed is little slower, that is the future improvement which should been researched.

  8. 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

  9. Fluidization quality analyzer for fluidized beds

    DOEpatents

    Daw, C.S.; Hawk, J.A.

    1995-07-25

    A control loop and fluidization quality analyzer for a fluidized bed utilizes time varying pressure drop measurements. A fast-response pressure transducer measures the overall bed pressure drop, or over some segment of the bed, and the pressure drop signal is processed to produce an output voltage which changes with the degree of fluidization turbulence. 9 figs.

  10. Fluidization quality analyzer for fluidized beds

    DOEpatents

    Daw, C. Stuart; Hawk, James A.

    1995-01-01

    A control loop and fluidization quality analyzer for a fluidized bed utilizes time varying pressure drop measurements. A fast-response pressure transducer measures the overall bed pressure drop, or over some segment of the bed, and the pressure drop signal is processed to produce an output voltage which changes with the degree of fluidization turbulence.

  11. Evolution of Vertebrate Adam Genes; Duplication of Testicular Adams from Ancient Adam9/9-like Loci

    PubMed Central

    Wei, Shuo

    2015-01-01

    Members of the disintegrin metalloproteinase (ADAM) family have important functions in regulating cell-cell and cell-matrix interactions as well as cell signaling. There are two major types of ADAMs: the somatic ADAMs (sADAMs) that have a significant presence in somatic tissues, and the testicular ADAMs (tADAMs) that are expressed predominantly in the testis. Genes encoding tADAMs can be further divided into two groups: group I (intronless) and group II (intron-containing). To date, tAdams have only been reported in placental mammals, and their evolutionary origin and relationship to sAdams remain largely unknown. Using phylogenetic and syntenic tools, we analyzed the Adam genes in various vertebrates ranging from fishes to placental mammals. Our analyses reveal duplication and loss of some sAdams in certain vertebrate species. In particular, there exists an Adam9-like gene in non-mammalian vertebrates but not mammals. We also identified putative group I and group II tAdams in all amniote species that have been examined. These tAdam homologues are more closely related to Adams 9 and 9-like than to other sAdams. In all amniote species examined, group II tAdams lie in close vicinity to Adam9 and hence likely arose from tandem duplication, whereas group I tAdams likely originated through retroposition because of their lack of introns. Clusters of multiple group I tAdams are also common, suggesting tandem duplication after retroposition. Therefore, Adam9/9-like and some of the derived tAdam loci are likely preferred targets for tandem duplication and/or retroposition. Consistent with this hypothesis, we identified a young retroposed gene that duplicated recently from Adam9 in the opossum. As a result of gene duplication, some tAdams were pseudogenized in certain species, whereas others acquired new expression patterns and functions. The rapid duplication of Adam genes has a major contribution to the diversity of ADAMs in various vertebrate species. PMID:26308360

  12. 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.

  13. 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

  14. 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.

  15. Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.

    PubMed

    Tschernigg, M; Petek, E; Wagner, K; Kroisel, P M

    2002-01-01

    Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of previously described patients with 4p duplication syndrome and include a deep hairline, deep-set eyes, short pug nose, full cheeks, simian crease, clinodactily of the fifth digit, no speech development and a moderate psychomotor retardation. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe confirmed that the extra material is of chromosome 4 origin. Further analysis with the Wolf-Hirschhorn critical region probe demonstrated the duplication of this region. The lysosomal hydrolase alpha-L-iduronidase (IDUA) gene which is mutated in mucopolysaccaridosis type I (MPS I) and mapped to 4p16.3 might be responsible for some of the MPS like facial features. A phenotype-genotype correlation analysis in combination with literature review was undertaken to allow a further delineation of partial trisomy 4p syndromes. PMID:12017235

  16. Duplication of the gamma-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates.

    PubMed Central

    Fitch, D H; Bailey, W J; Tagle, D A; Goodman, M; Sieu, L; Slightom, J L

    1991-01-01

    Regions surrounding the single gamma-globin gene of galago and the duplicated gamma 1- and gamma 2-globin genes of gibbon, rhesus monkey, and spider monkey were sequenced and aligned with those from humans. Contrary to previous studies, spider monkey was found to have not one but two gamma-globin genes, only one of which (gamma 2) is functional. The reconstructed evolutionary history of the gamma-globin genes and their flanking sequences traces their origin to a tandem duplication of a DNA segment approximately 5.5 kilobases long that occurred before catarrhine primates (humans, apes, and Old World monkeys) diverged from platyrrhines (New World monkeys), much earlier than previously thought. This reconstructed molecular history also reveals that the duplication resulted from an unequal homologous crossover between two related L1 long interspersed repetitive elements, one upstream and one downstream of the single ancestral gamma-globin gene. Perhaps facilitated by the redundancy resulting from the duplication, the gamma-globin genes escaped the selective constraints of embryonically functioning genes and evolved into fetally functioning genes. This view is supported by the finding that a burst of nonsynonymous substitutions occurred in the gamma-globin genes while they became restructured for fetal expression in the common ancestor of platyrrhines and catarrhines. PMID:1908094

  17. Duplication of Subcytoband 11E2 of Chromosome 11 Is Regularly Associated with Accelerated Tumor Development in v-abl/myc-Induced Mouse Plasmacytomas.

    PubMed

    Wiener, Francis; Schmälter, Ann-Kristin; Mowat, Michael R A; Mai, Sabine

    2010-08-01

    Chromosome 11 aberrations constitute the second most frequent chromosomal aberration in mouse plasmacytomas (PCTs) in which both the myc and abl oncogenes are constitutively expressed. In these tumors, previous G-banding studies had revealed numerical aberrations including duplication of the entire chromosome 11 or segments of telomeric bands D and E. The trisomy of chromosome 11 was always associated with accelerated pristane + v-abl/myc-induced PCT development. In the present study, PCT development was studied in a unique BALB/c congenic mouse strain, (T38HxBALB/c) F1, carrying a reciprocal translocation between chromosomes X and 11. After v-abl/myc induction, PCTs in this strain had acquired a nonrandom duplication of subcytoband 11E2. This duplication was always associated with accelerated PCT development. Corresponding synteny regions in the human and rat are changed in many tumors and involved in duplication, amplification, or translocation events. Thus, together with these synteny data, our findings strongly suggest a causal involvement of 11E2 in the acceleration of v-abl/myc-induced PCTs. PMID:21779468

  18. Pancreas and cyst segmentation

    NASA Astrophysics Data System (ADS)

    Dmitriev, Konstantin; Gutenko, Ievgeniia; Nadeem, Saad; Kaufman, Arie

    2016-03-01

    Accurate segmentation of abdominal organs from medical images is an essential part of surgical planning and computer-aided disease diagnosis. Many existing algorithms are specialized for the segmentation of healthy organs. Cystic pancreas segmentation is especially challenging due to its low contrast boundaries, variability in shape, location and the stage of the pancreatic cancer. We present a semi-automatic segmentation algorithm for pancreata with cysts. In contrast to existing automatic segmentation approaches for healthy pancreas segmentation which are amenable to atlas/statistical shape approaches, a pancreas with cysts can have even higher variability with respect to the shape of the pancreas due to the size and shape of the cyst(s). Hence, fine results are better attained with semi-automatic steerable approaches. We use a novel combination of random walker and region growing approaches to delineate the boundaries of the pancreas and cysts with respective best Dice coefficients of 85.1% and 86.7%, and respective best volumetric overlap errors of 26.0% and 23.5%. Results show that the proposed algorithm for pancreas and pancreatic cyst segmentation is accurate and stable.

  19. Regression Segmentation for M³ Spinal Images.

    PubMed

    Wang, Zhijie; Zhen, Xiantong; Tay, KengYeow; Osman, Said; Romano, Walter; Li, Shuo

    2015-08-01

    Clinical routine often requires to analyze spinal images of multiple anatomic structures in multiple anatomic planes from multiple imaging modalities (M(3)). Unfortunately, existing methods for segmenting spinal images are still limited to one specific structure, in one specific plane or from one specific modality (S(3)). In this paper, we propose a novel approach, Regression Segmentation, that is for the first time able to segment M(3) spinal images in one single unified framework. This approach formulates the segmentation task innovatively as a boundary regression problem: modeling a highly nonlinear mapping function from substantially diverse M(3) images directly to desired object boundaries. Leveraging the advancement of sparse kernel machines, regression segmentation is fulfilled by a multi-dimensional support vector regressor (MSVR) which operates in an implicit, high dimensional feature space where M(3) diversity and specificity can be systematically categorized, extracted, and handled. The proposed regression segmentation approach was thoroughly tested on images from 113 clinical subjects including both disc and vertebral structures, in both sagittal and axial planes, and from both MRI and CT modalities. The overall result reaches a high dice similarity index (DSI) 0.912 and a low boundary distance (BD) 0.928 mm. With our unified and expendable framework, an efficient clinical tool for M(3) spinal image segmentation can be easily achieved, and will substantially benefit the diagnosis and treatment of spinal diseases. PMID:25361503

  20. Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.

    PubMed

    Park, Chang-Hun; Kim, Hee-Jin; Lee, Seung-Tae; Seo, Jeong Meen; Kim, Sun-Hee

    2014-03-10

    Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects. Here we report a case of near-complete T17P of which the genomic dosage aberrations were delineated by chromosomal microarray along with conventional diagnostic modalities. A 9-year-old Korean boy was admitted because of esophageal obstruction. He showed clinical manifestations of T17P, along with atypical features of scoliosis, corpus callosum agenesis, and seizure. Chromosome analyses revealed an inverted duplication of the chromosomal segment between 17p11.2 and 17p13.3. Chromosomal microarray revealed a duplication of the most of the short arm of chromosome 17 (size ~19.09 Mb) along with a cryptic deletion of a small segment of 17p terminal end (17pter) (~261 Kb). This is the first report of molecular characterization of near-complete T17P from inverted duplication in association with 17pter microdeletion. The fine delineation of the extent of genomic aberration by SNP-based microarray could help us better understand the molecular mechanism and genotype-phenotype correlations in T17P syndrome. PMID:24393711

  1. Segmented ion thruster

    NASA Technical Reports Server (NTRS)

    Brophy, John R. (Inventor)

    1993-01-01

    Apparatus and methods for large-area, high-power ion engines comprise dividing a single engine into a combination of smaller discharge chambers (or segments) configured to operate as a single large-area engine. This segmented ion thruster (SIT) approach enables the development of 100-kW class argon ion engines for operation at a specific impulse of 10,000 s. A combination of six 30-cm diameter ion chambers operating as a single engine can process over 100 kW. Such a segmented ion engine can be operated from a single power processor unit.

  2. 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…

  3. 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...

  4. 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....

  5. 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....

  6. 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...

  7. 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...

  8. 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...

  9. 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...

  10. 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...

  11. 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...

  12. 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

  13. 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...

  14. 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...

  15. 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...

  16. 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....

  17. 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....

  18. 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.…

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. Image segmentation survey

    NASA Technical Reports Server (NTRS)

    Haralick, R. M.

    1982-01-01

    The methodologies and capabilities of image segmentation techniques are reviewed. Single linkage schemes, hybrid linkage schemes, centroid linkage schemes, histogram mode seeking, spatial clustering, and split and merge schemes are addressed.

  6. Segmentation of SAR images

    NASA Technical Reports Server (NTRS)

    Kwok, Ronald

    1989-01-01

    The statistical characteristics of image speckle are reviewed. Existing segmentation techniques that have been used for speckle filtering, edge detection, and texture extraction are sumamrized. The relative effectiveness of each technique is briefly discussed.

  7. 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

  8. 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

  9. 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

  10. [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

  11. Genesis of the vertebrate FoxP subfamily member genes occurred during two ancestral whole genome duplication events.

    PubMed

    Song, Xiaowei; Tang, Yezhong; Wang, Yajun

    2016-08-22

    The vertebrate FoxP subfamily genes play important roles in the construction of essential functional modules involved in physiological and developmental processes. To explore the adaptive evolution of functional modules associated with the FoxP subfamily member genes, it is necessary to study the gene duplication process. We detected four member genes of the FoxP subfamily in sea lampreys (a representative species of jawless vertebrates) through genome screenings and phylogenetic analyses. Reliable paralogons (i.e. paralogous chromosome segments) have rarely been detected in scaffolds of FoxP subfamily member genes in sea lampreys due to the considerable existence of HTH_Tnp_Tc3_2 transposases. However, these transposases did not alter gene numbers of the FoxP subfamily in sea lampreys. The coincidence between the "1-4" gene duplication pattern of FoxP subfamily genes from invertebrates to vertebrates and two rounds of ancestral whole genome duplication (1R- and 2R-WGD) events reveal that the FoxP subfamily of vertebrates was quadruplicated in the 1R- and 2R-WGD events. Furthermore, we deduced that a synchronous gene duplication process occurred for the FoxP subfamily and for three linked gene families/subfamilies (i.e. MIT family, mGluR group III and PLXNA subfamily) in the 1R- and 2R-WGD events using phylogenetic analyses and mirror-dendrogram methods (i.e. algorithms to test protein-protein interactions). Specifically, the ancestor of FoxP1 and FoxP3 and the ancestor of FoxP2 and FoxP4 were generated in 1R-WGD event. In the subsequent 2R-WGD event, these two ancestral genes were changed into FoxP1, FoxP2, FoxP3 and FoxP4. The elucidation of these gene duplication processes shed light on the phylogenetic relationships between functional modules of the FoxP subfamily member genes. PMID:27188254

  12. Adjacent segment disease.

    PubMed

    Virk, Sohrab S; Niedermeier, Steven; Yu, Elizabeth; Khan, Safdar N

    2014-08-01

    EDUCATIONAL OBJECTIVES As a result of reading this article, physicians should be able to: 1. Understand the forces that predispose adjacent cervical segments to degeneration. 2. Understand the challenges of radiographic evaluation in the diagnosis of cervical and lumbar adjacent segment disease. 3. Describe the changes in biomechanical forces applied to adjacent segments of lumbar vertebrae with fusion. 4. Know the risk factors for adjacent segment disease in spinal fusion. Adjacent segment disease (ASD) is a broad term encompassing many complications of spinal fusion, including listhesis, instability, herniated nucleus pulposus, stenosis, hypertrophic facet arthritis, scoliosis, and vertebral compression fracture. The area of the cervical spine where most fusions occur (C3-C7) is adjacent to a highly mobile upper cervical region, and this contributes to the biomechanical stress put on the adjacent cervical segments postfusion. Studies have shown that after fusion surgery, there is increased load on adjacent segments. Definitive treatment of ASD is a topic of continuing research, but in general, treatment choices are dictated by patient age and degree of debilitation. Investigators have also studied the risk factors associated with spinal fusion that may predispose certain patients to ASD postfusion, and these data are invaluable for properly counseling patients considering spinal fusion surgery. Biomechanical studies have confirmed the added stress on adjacent segments in the cervical and lumbar spine. The diagnosis of cervical ASD is complicated given the imprecise correlation of radiographic and clinical findings. Although radiological and clinical diagnoses do not always correlate, radiographs and clinical examination dictate how a patient with prolonged pain is treated. Options for both cervical and lumbar spine ASD include fusion and/or decompression. Current studies are encouraging regarding the adoption of arthroplasty in spinal surgery, but more long

  13. Segmented pyroelector detector

    DOEpatents

    Stotlar, S.C.; McLellan, E.J.

    1981-01-21

    A pyroelectric detector is described which has increased voltage output and improved responsivity over equivalent size detectors. The device comprises a plurality of edge-type pyroelectric detectors which have a length which is much greater than the width of the segments between the edge-type electrodes. External circuitry connects the pyroelectric detector segments in parallel to provide a single output which maintains 50 ohm impedance characteristics.

  14. Squaring a Circular Segment

    ERIC Educational Resources Information Center

    Gordon, Russell

    2008-01-01

    Consider a circular segment (the smaller portion of a circle cut off by one of its chords) with chord length c and height h (the greatest distance from a point on the arc of the circle to the chord). Is there a simple formula involving c and h that can be used to closely approximate the area of this circular segment? Ancient Chinese and Egyptian…

  15. Considerations on testing of CFGT primary segments

    NASA Astrophysics Data System (ADS)

    Jiang, Liyuan; Li, Xinnan

    2010-10-01

    Larger primary collect more light. Limited by the casting techniques, the largest single primary mirror can be cast is about 8.4-m. So segmented primary is widely adopted by large telescope with the aperture over 10-m since the twin 10-m KECK built or designed during the past two decades. Segmented primary creates new challenges for fabrication and measurements. Chinese Future Giant Telescope (CFGT), a 30m telescope project, has been proposed by Chinese astronomers. The primary of CFGT is a 30-meter diameter hyperboloid with a focal ratio F/1.2 and divided to 17 rings evenly from the center to the edge. Each ring is divided into several sector-shaped segments with the size about 1.1-meter in diagonal. The total amount of the off-axis sector-shaped aspheric sub-mirror is 1122 including 17 different types. In this case, how to test the large quantities of off-axis sector-shaped aspheric segments precisely and efficiently with less cost is highly required to be considered. In this paper, the parameters of the CFGT primary and the 17 different types of the segments are presented. Three potential methods of measurements for testing the large amount of CFGT primary off-axis aspherical segments are compared and analyzed. The advantages and disadvantages of these three measurements are discussed. By comparing, a method that test the segments with a standard flat mirror and another method which tests the segments with a CGH and a test plate may be served as two candidates of the measurement for CFGT primary segments. It may provide useful reference for the future research.

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. Segmental neurofibromatosis and malignancy.

    PubMed

    Dang, Julie D; Cohen, Philip R

    2010-01-01

    Segmental neurofibromatosis is an uncommon variant of neurofibromatosis type I characterized by neurofibromas and/or café-au-lait macules localized to one sector of the body. Although patients with neurofibromatosis type I have an associated increased risk of certain malignancies, malignancy has only occasionally been reported in patients with segmental neurofibromatosis. The published reports of patients with segmental neurofibromatosis who developed malignancy were reviewed and the characteristics of these patients and their cancers were summarized. Ten individuals (6 women and 4 men) with segmental neurofibromatosis and malignancy have been reported. The malignancies include malignant peripheral nerve sheath tumor (3), malignant melanoma (2), breast cancer (1), colon cancer (1), gastric cancer (1), lung cancer (1), and Hodgkin lymphoma (1). The most common malignancies in patients with segmental neurofibromatosis are derived from neural crest cells: malignant peripheral nerve sheath tumor and malignant melanoma. The incidence of malignancy in patients with segmental neurofibromatosis may approach that of patients with neurofibromatosis type I. PMID:21137621

  2. A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors

    PubMed Central

    Bessière, Laurianne; Todeschini, Anne-Laure; Auguste, Aurélie; Sarnacki, Sabine; Flatters, Delphine; Legois, Bérangère; Sultan, Charles; Kalfa, Nicolas; Galmiche, Louise; Veitia, Reiner A.

    2015-01-01

    Background Ovarian granulosa cell tumors are the most common sex-cord stromal tumors and have juvenile (JGCTs) and adult forms. In a previous study we reported the occurrence of activating somatic mutations of Gαs, which transduces mitogenic signals, in 30% of the analyzed JGCTs. Methods We have searched for alterations in other proteins involved in ovarian mitogenic signaling. We focused on the PI3K–AKT axis. As we found mutations in AKT1, we analyzed the subcellular localization of the mutated proteins and performed functional explorations using Western-blot and luciferase assays. Findings We detected in-frame duplications affecting the pleckstrin-homology domain of AKT1 in more than 60% of the tumors occurring in girls under 15 years of age. The somatic status of the mutations was confirmed when peritumoral DNA was available. The JGCTs without duplications carried point mutations affecting highly conserved residues. Several of these substitutions were somatic lesions. The mutated proteins carrying the duplications had a non-wild-type subcellular distribution, with a marked enrichment at the plasma membrane. This led to a striking degree of AKT1 activation demonstrated by a strong phosphorylation level and by reporter assays. Interpretation Our study incriminates somatic mutations of AKT1 as a major event in the pathogenesis of JGCTs. The existence of AKT inhibitors currently tested in clinical trials opens new perspectives for targeted therapies for these tumors, which are currently treated with standard non-specific chemotherapy protocols. PMID:26137586

  3. 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

  4. Enteric duplication cyst as a leading point for ileoileal intussusception in an adult: A rare cause of complete small intestinal obstruction

    PubMed Central

    Al-Qahtani, Hamad Hadi

    2016-01-01

    Duplication of alimentary tract (DAT) presenting as an ileoileal intussusception is a very rare clinical entity. Herein, a case of an ileoileal intussusception due to DAT is presented. A 32-year-old woman was hospitalized due to diffuse, intermittent abdominal pain, vomiting and constipation for 3 d associated with abdominal distention. Plain abdominal X-ray revealed dilated small bowel. Abdominal computed tomography showed grossly dilated small bowel with “sausage” and “doughnut” signs of small bowel intussusception. She underwent laparotomy, with findings of ileoileal intussusception due to a cystic lesion adjacent to the mesenteric side. Resection of the cystic lesion along with the affected segment of intestine, with an end to end anastomosis was performed. The histopathology was consistent with enteric duplication cyst. This case highlights the DAT, although, an uncommon cause of adult ileoileal intussusception should be considered in the differential diagnosis of intussusception in adults, particularly when the leading point is a cystic lesion. PMID:27358681

  5. Site-specific integration of adeno-associated virus involves partial duplication of the target locus

    PubMed Central

    Henckaerts, Els; Dutheil, Nathalie; Zeltner, Nadja; Kattman, Steven; Kohlbrenner, Erik; Ward, Peter; Clément, Nathalie; Rebollo, Patricia; Kennedy, Marion; Keller, Gordon M.; Linden, R. Michael

    2009-01-01

    A variety of viruses establish latency by integrating their genome into the host genome. The integration event generally occurs in a nonspecific manner, precluding the prediction of functional consequences from resulting disruptions of affected host genes. The nonpathogenic adeno-associated virus (AAV) is unique in its ability to stably integrate in a site-specific manner into the human MBS85 gene. To gain a better understanding of the integration mechanism and the consequences of MBS85 disruption, we analyzed the molecular structure of AAV integrants in various latently infected human cell lines. Our study led to the observation that AAV integration causes an extensive but partial duplication of the target gene. Intriguingly, the molecular organization of the integrant leaves the possibility that a functional copy of the disrupted target gene could potentially be preserved despite the resulting rearrangements. A latently infected, Mbs85-targeted mouse ES cell line was generated to study the functional consequences of the observed duplication-based integration mechanism. AAV-modified ES cell lines continued to self-renew, maintained their multilineage differentiation potential and contributed successfully to mouse development when injected into blastocysts. Thus, our study reveals a viral strategy for targeted genome addition with the apparent absence of functional consequences. PMID:19372372

  6. Detection of alternative splice and gene duplication by RNA sequencing in Japanese flounder, Paralichthys olivaceus.

    PubMed

    Wang, Wenji; Wang, Jing; You, Feng; Ma, Liman; Yang, Xiao; Gao, Jinning; He, Yan; Qi, Jie; Yu, Haiyang; Wang, Zhigang; Wang, Xubo; Wu, Zhihao; Zhang, Quanqi

    2014-12-01

    Japanese flounder (Paralichthys olivaceus) is one of the economic important fish in China. Sexual dimorphism, especially the different growth rates and body sizes between two sexes, makes this fish a good model to investigate mechanisms responsible for such dimorphism for both fundamental questions in evolution and applied topics in aquaculture. However, the lack of "omics" data has hindered the process. The recent advent of RNA-sequencing technology provides a robust tool to further study characteristics of genomes of nonmodel species. Here, we performed de novo transcriptome sequencing for a double haploid Japanese flounder individual using Illumina sequencing. A single lane of paired-end sequencing produced more than 27 million reads. These reads were assembled into 107,318 nonredundant transcripts, half of which (51,563; 48.1%) were annotated by blastx to public protein database. A total of 1051 genes that had potential alternative splicings were detected by Chrysalis implemented in Trinity software. Four of 10 randomly picked genes were verified truly containing alternative splicing by cloning and Sanger sequencing. Notably, using a doubled haploid Japanese flounder individual allow us to analyze gene duplicates. In total, 3940 "single-nucleotide polymorphisms" were detected form 1859 genes, which may have happened gene duplicates. This study lays the foundation for structural and functional genomics studies in Japanese flounder. PMID:25512620

  7. Detection of Alternative Splice and Gene Duplication by RNA Sequencing in Japanese Flounder, Paralichthys olivaceus

    PubMed Central

    Wang, Wenji; Wang, Jing; You, Feng; Ma, Liman; Yang, Xiao; Gao, Jinning; He, Yan; Qi, Jie; Yu, Haiyang; Wang, Zhigang; Wang, Xubo; Wu, Zhihao; Zhang, Quanqi

    2014-01-01

    Japanese flounder (Paralichthys olivaceus) is one of the economic important fish in China. Sexual dimorphism, especially the different growth rates and body sizes between two sexes, makes this fish a good model to investigate mechanisms responsible for such dimorphism for both fundamental questions in evolution and applied topics in aquaculture. However, the lack of “omics” data has hindered the process. The recent advent of RNA-sequencing technology provides a robust tool to further study characteristics of genomes of nonmodel species. Here, we performed de novo transcriptome sequencing for a double haploid Japanese flounder individual using Illumina sequencing. A single lane of paired-end sequencing produced more than 27 million reads. These reads were assembled into 107,318 nonredundant transcripts, half of which (51,563; 48.1%) were annotated by blastx to public protein database. A total of 1051 genes that had potential alternative splicings were detected by Chrysalis implemented in Trinity software. Four of 10 randomly picked genes were verified truly containing alternative splicing by cloning and Sanger sequencing. Notably, using a doubled haploid Japanese flounder individual allow us to analyze gene duplicates. In total, 3940 “single-nucleotide polymorphisms” were detected form 1859 genes, which may have happened gene duplicates. This study lays the foundation for structural and functional genomics studies in Japanese flounder. PMID:25512620

  8. Prevertebrate Local Gene Duplication Facilitated Expansion of the Neuropeptide GPCR Superfamily.

    PubMed

    Yun, Seongsik; Furlong, Michael; Sim, Mikang; Cho, Minah; Park, Sumi; Cho, Eun Bee; Reyes-Alcaraz, Arfaxad; Hwang, Jong-Ik; Kim, Jaebum; Seong, Jae Young

    2015-11-01

    In humans, numerous genes encode neuropeptides that comprise a superfamily of more than 70 genes in approximately 30 families and act mainly through rhodopsin-like G protein-coupled receptors (GPCRs). Two rounds of whole-genome duplication (2R WGD) during early vertebrate evolution greatly contributed to proliferation within gene families; however, the mechanisms underlying the initial emergence and diversification of these gene families before 2R WGD are largely unknown. In this study, we analyzed 25 vertebrate rhodopsin-like neuropeptide GPCR families and their cognate peptides using phylogeny, synteny, and localization of these genes on reconstructed vertebrate ancestral chromosomes (VACs). Based on phylogeny, these GPCR families can be divided into five distinct clades, and members of each clade tend to be located on the same VACs. Similarly, their neuropeptide gene families also tend to reside on distinct VACs. Comparison of these GPCR genes with those of invertebrates including Drosophila melanogaster, Caenorhabditis elegans, Branchiostoma floridae, and Ciona intestinalis indicates that these GPCR families emerged through tandem local duplication during metazoan evolution prior to 2R WGD. Our study describes a presumptive evolutionary mechanism and development pathway of the vertebrate rhodopsin-like GPCR and cognate neuropeptide families from the urbilaterian ancestor to modern vertebrates. PMID:26337547

  9. 7q36 deletion and 9p22 duplication: effects of a double imbalance

    PubMed Central

    2013-01-01

    The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and genetic factors. Chromosomal aberrations are common causes of moderate to severe mental retardation and may represent 10% of these occurrences. Here we report the case of a boy with development delay, hypoplasia of corpus callosum, microcephaly, muscular hypotonia, and facial dysmorphisms. A deletion of 7q36.1 → 36.3 and duplication of 9p22.3 → 23 was detected as a result of an unbalanced translocation of paternal origin. Breakpoint delimitation was achieved with array comparative genomic hybridization assay. Additional multiplex ligation dependent probe amplification (MLPA) analyzes confirmed one copy loss of 7q36.3 region and one copy gain of 9p24.3 region. Patient resultant phenotype is consistent with the already described findings for both 7q deletion and 9p duplication syndromes. PMID:23317051

  10. Neuropeptide evolution: Chelicerate neurohormone and neuropeptide genes may reflect one or more whole genome duplications.

    PubMed

    Veenstra, Jan A

    2016-04-01

    Four genomes and two transcriptomes from six Chelicerate species were analyzed for the presence of neuropeptide and neurohormone precursors and their GPCRs. The genome from the spider Stegodyphus mimosarum yielded 87 neuropeptide precursors and 120 neuropeptide GPCRs. Many neuropeptide transcripts were also found in the transcriptomes of three other spiders, Latrodectus hesperus, Parasteatoda tepidariorum and Acanthoscurria geniculata. For the scorpion Mesobuthus martensii the numbers are 79 and 93 respectively. The very small genome of the house dust mite, Dermatophagoides farinae, on the other hand contains a much smaller number of such genes. A few new putative Arthropod neuropeptide genes were discovered. Thus, both spiders and the scorpion have an achatin gene and in spiders there are two different genes encoding myosuppressin-like peptides while spiders also have two genes encoding novel LGamides. Another finding is the presence of trissin in spiders and scorpions, while neuropeptide genes that seem to be orthologs of Lottia LFRYamide and Platynereis CCRFamide were also found. Such genes were also found in various insect species, but seem to be lacking from the Holometabola. The Chelicerate neuropeptide and neuropeptide GPCR genes often have paralogs. As the large majority of these are probably not due to local gene duplications, is plausible that they reflect the effects of one or more ancient whole genome duplications. PMID:26928473

  11. Duplication and Diversification of Dipteran Argonaute Genes, and the Evolutionary Divergence of Piwi and Aubergine

    PubMed Central

    Lewis, Samuel H.; Salmela, Heli; Obbard, Darren J.

    2016-01-01

    Genetic studies of Drosophila melanogaster have provided a paradigm for RNA interference (RNAi) in arthropods, in which the microRNA and antiviral pathways are each mediated by a single Argonaute (Ago1 and Ago2) and germline suppression of transposable elements is mediated by a trio of Piwi-subfamily Argonaute proteins (Ago3, Aub, and Piwi). Without a suitable evolutionary context, deviations from this can be interpreted as derived or idiosyncratic. Here we analyze the evolution of Argonaute genes across the genomes and transcriptomes of 86 Dipteran species, showing that variation in copy number can occur rapidly, and that there is constant flux in some RNAi mechanisms. The lability of the RNAi pathways is illustrated by the divergence of Aub and Piwi (182–156 Ma), independent origins of multiple Piwi-family genes in Aedes mosquitoes (less than 25Ma), and the recent duplications of Ago2 and Ago3 in the tsetse fly Glossina morsitans. In each case the tissue specificity of these genes has altered, suggesting functional divergence or innovation, and consistent with the action of dynamic selection pressures across the Argonaute gene family. We find there are large differences in evolutionary rates and gene turnover between pathways, and that paralogs of Ago2, Ago3, and Piwi/Aub show contrasting rates of evolution after duplication. This suggests that Argonautes undergo frequent evolutionary expansions that facilitate functional divergence. PMID:26868596

  12. LINE-1-like retrotransposons contribute to RNA-based gene duplication in dicots

    PubMed Central

    Zhu, Zhenglin; Tan, Shengjun; Zhang, Yaqiong; Zhang, Yong E.

    2016-01-01

    RNA-based duplicated genes or functional retrocopies (retrogenes) are known to drive phenotypic evolution. Retrogenes emerge via retroposition, which is mainly mediated by long interspersed nuclear element 1 (LINE-1 or L1) retrotransposons in mammals. By contrast, long terminal repeat (LTR) retrotransposons appear to be the major player in plants, although an L1-like mechanism has also been hypothesized to be involved in retroposition. We tested this hypothesis by searching for young retrocopies, as these still retain the sequence features associated with the underlying retroposition mechanism. Specifically, we identified polymorphic retrocopies (retroCNVs) by analyzing public Arabidopsis (Arabidopsis thaliana) resequencing data. Furthermore, we searched for recently originated retrocopies encoded by the reference genome of Arabidopsis and Manihot esculenta. Across these two datasets, we found cases with L1-like hallmarks, namely, the expected target site sequence, a polyA tail and target site duplications. Such data suggest that an L1-like mechanism could operate in plants, especially dicots. PMID:27098918

  13. LINE-1-like retrotransposons contribute to RNA-based gene duplication in dicots.

    PubMed

    Zhu, Zhenglin; Tan, Shengjun; Zhang, Yaqiong; Zhang, Yong E

    2016-01-01

    RNA-based duplicated genes or functional retrocopies (retrogenes) are known to drive phenotypic evolution. Retrogenes emerge via retroposition, which is mainly mediated by long interspersed nuclear element 1 (LINE-1 or L1) retrotransposons in mammals. By contrast, long terminal repeat (LTR) retrotransposons appear to be the major player in plants, although an L1-like mechanism has also been hypothesized to be involved in retroposition. We tested this hypothesis by searching for young retrocopies, as these still retain the sequence features associated with the underlying retroposition mechanism. Specifically, we identified polymorphic retrocopies (retroCNVs) by analyzing public Arabidopsis (Arabidopsis thaliana) resequencing data. Furthermore, we searched for recently originated retrocopies encoded by the reference genome of Arabidopsis and Manihot esculenta. Across these two datasets, we found cases with L1-like hallmarks, namely, the expected target site sequence, a polyA tail and target site duplications. Such data suggest that an L1-like mechanism could operate in plants, especially dicots. PMID:27098918

  14. Effects of Gene Duplication, Positive Selection, and Shifts in Gene Expression on the Evolution of the Venom Gland Transcriptome in Widow Spiders.

    PubMed

    Haney, Robert A; Clarke, Thomas H; Gadgil, Rujuta; Fitzpatrick, Ryan; Hayashi, Cheryl Y; Ayoub, Nadia A; Garb, Jessica E

    2016-01-01

    Gene duplication and positive selection can be important determinants of the evolution of venom, a protein-rich secretion used in prey capture and defense. In a typical model of venom evolution, gene duplicates switch to venom gland expression and change function under the action of positive selection, which together with further duplication produces large gene families encoding diverse toxins. Although these processes have been demonstrated for individual toxin families, high-throughput multitissue sequencing of closely related venomous species can provide insights into evolutionary dynamics at the scale of the entire venom gland transcriptome. By assembling and analyzing multitissue transcriptomes from the Western black widow spider and two closely related species with distinct venom toxicity phenotypes, we do not find that gene duplication and duplicate retention is greater in gene families with venom gland biased expression in comparison with broadly expressed families. Positive selection has acted on some venom toxin families, but does not appear to be in excess for families with venom gland biased expression. Moreover, we find 309 distinct gene families that have single transcripts with venom gland biased expression, suggesting that the switching of genes to venom gland expression in numerous unrelated gene families has been a dominant mode of evolution. We also find ample variation in protein sequences of venom gland-specific transcripts, lineage-specific family sizes, and ortholog expression among species. This variation might contribute to the variable venom toxicity of these species. PMID:26733576

  15. Effects of Gene Duplication, Positive Selection, and Shifts in Gene Expression on the Evolution of the Venom Gland Transcriptome in Widow Spiders

    PubMed Central

    Haney, Robert A.; Clarke, Thomas H.; Gadgil, Rujuta; Fitzpatrick, Ryan; Hayashi, Cheryl Y.; Ayoub, Nadia A.; Garb, Jessica E.

    2016-01-01

    Gene duplication and positive selection can be important determinants of the evolution of venom, a protein-rich secretion used in prey capture and defense. In a typical model of venom evolution, gene duplicates switch to venom gland expression and change function under the action of positive selection, which together with further duplication produces large gene families encoding diverse toxins. Although these processes have been demonstrated for individual toxin families, high-throughput multitissue sequencing of closely related venomous species can provide insights into evolutionary dynamics at the scale of the entire venom gland transcriptome. By assembling and analyzing multitissue transcriptomes from the Western black widow spider and two closely related species with distinct venom toxicity phenotypes, we do not find that gene duplication and duplicate retention is greater in gene families with venom gland biased expression in comparison with broadly expressed families. Positive selection has acted on some venom toxin families, but does not appear to be in excess for families with venom gland biased expression. Moreover, we find 309 distinct gene families that have single transcripts with venom gland biased expression, suggesting that the switching of genes to venom gland expression in numerous unrelated gene families has been a dominant mode of evolution. We also find ample variation in protein sequences of venom gland–specific transcripts, lineage-specific family sizes, and ortholog expression among species. This variation might contribute to the variable venom toxicity of these species. PMID:26733576

  16. Rediscovering market segmentation.

    PubMed

    Yankelovich, Daniel; Meer, David

    2006-02-01

    In 1964, Daniel Yankelovich introduced in the pages of HBR the concept of nondemographic segmentation, by which he meant the classification of consumers according to criteria other than age, residence, income, and such. The predictive power of marketing studies based on demographics was no longer strong enough to serve as a basis for marketing strategy, he argued. Buying patterns had become far better guides to consumers' future purchases. In addition, properly constructed nondemographic segmentations could help companies determine which products to develop, which distribution channels to sell them in, how much to charge for them, and how to advertise them. But more than 40 years later, nondemographic segmentation has become just as unenlightening as demographic segmentation had been. Today, the technique is used almost exclusively to fulfill the needs of advertising, which it serves mainly by populating commercials with characters that viewers can identify with. It is true that psychographic types like "High-Tech Harry" and "Joe Six-Pack" may capture some truth about real people's lifestyles, attitudes, self-image, and aspirations. But they are no better than demographics at predicting purchase behavior. Thus they give corporate decision makers very little idea of how to keep customers or capture new ones. Now, Daniel Yankelovich returns to these pages, with consultant David Meer, to argue the case for a broad view of nondemographic segmentation. They describe the elements of a smart segmentation strategy, explaining how segmentations meant to strengthen brand identity differ from those capable of telling a company which markets it should enter and what goods to make. And they introduce their "gravity of decision spectrum", a tool that focuses on the form of consumer behavior that should be of the greatest interest to marketers--the importance that consumers place on a product or product category. PMID:16485810

  17. Fault rupture segmentation

    NASA Astrophysics Data System (ADS)

    Cleveland, Kenneth Michael

    A critical foundation to earthquake study and hazard assessment is the understanding of controls on fault rupture, including segmentation. Key challenges to understanding fault rupture segmentation include, but are not limited to: What determines if a fault segment will rupture in a single great event or multiple moderate events? How is slip along a fault partitioned between seismic and seismic components? How does the seismicity of a fault segment evolve over time? How representative are past events for assessing future seismic hazards? In order to address the difficult questions regarding fault rupture segmentation, new methods must be developed that utilize the information available. Much of the research presented in this study focuses on the development of new methods for attacking the challenges of understanding fault rupture segmentation. Not only do these methods exploit a broader band of information within the waveform than has traditionally been used, but they also lend themselves to the inclusion of even more seismic phases providing deeper understandings. Additionally, these methods are designed to be fast and efficient with large datasets, allowing them to utilize the enormous volume of data available. Key findings from this body of work include demonstration that focus on fundamental earthquake properties on regional scales can provide general understanding of fault rupture segmentation. We present a more modern, waveform-based method that locates events using cross-correlation of the Rayleigh waves. Additionally, cross-correlation values can also be used to calculate precise earthquake magnitudes. Finally, insight regarding earthquake rupture directivity can be easily and quickly exploited using cross-correlation of surface waves.

  18. 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

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

    PubMed Central

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

    2010-01-01

    We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism. PMID:20684015

  20. 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

  1. Bootstrapping structured page segmentation

    NASA Astrophysics Data System (ADS)

    Ma, Huanfeng; Doermann, David S.

    2003-01-01

    In this paper, we present an approach to the bootstrap learning of a page segmentation model. The idea evolves from attempts to segment dictionaries that often have a consistent page structure, and is extended to the segmentation of more general structured documents. In cases of highly regular structure, the layout can be learned from examples of only a few pages. The system is first trained using a small number of samples, and a larger test set is processed based on the training result. After making corrections to a selected subset of the test set, these corrected samples are combined with the original training samples to generate bootstrap samples. The newly created samples are used to retrain the system, refine the learned features and resegment the test samples. This procedure is applied iteratively until the learned parameters are stable. Using this approach, we do not need to initially provide a large set of training samples. We have applied this segmentation to many structured documents such as dictionaries, phone books, spoken language transcripts, and obtained satisfying segmentation performance.

  2. Scorpion image segmentation system

    NASA Astrophysics Data System (ADS)

    Joseph, E.; Aibinu, A. M.; Sadiq, B. A.; Bello Salau, H.; Salami, M. J. E.

    2013-12-01

    Death as a result of scorpion sting has been a major public health problem in developing countries. Despite the high rate of death as a result of scorpion sting, little report exists in literature of intelligent device and system for automatic detection of scorpion. This paper proposed a digital image processing approach based on the floresencing characteristics of Scorpion under Ultra-violet (UV) light for automatic detection and identification of scorpion. The acquired UV-based images undergo pre-processing to equalize uneven illumination and colour space channel separation. The extracted channels are then segmented into two non-overlapping classes. It has been observed that simple thresholding of the green channel of the acquired RGB UV-based image is sufficient for segmenting Scorpion from other background components in the acquired image. Two approaches to image segmentation have also been proposed in this work, namely, the simple average segmentation technique and K-means image segmentation. The proposed algorithm has been tested on over 40 UV scorpion images obtained from different part of the world and results obtained show an average accuracy of 97.7% in correctly classifying the pixel into two non-overlapping clusters. The proposed 1system will eliminate the problem associated with some of the existing manual approaches presently in use for scorpion detection.

  3. SAR Image Segmentation Using Morphological Attribute Profiles

    NASA Astrophysics Data System (ADS)

    Boldt, M.; Thiele, A.; Schulz, K.; Hinz, S.

    2014-08-01

    In the last years, the spatial resolution of remote sensing sensors and imagery has continuously improved. Focusing on spaceborne Synthetic Aperture Radar (SAR) sensors, the satellites of the current generation (TerraSAR-X, COSMO-SykMed) are able to acquire images with sub-meter resolution. Indeed, high resolution imagery is visually much better interpretable, but most of the established pixel-based analysis methods have become more or less impracticable since, in high resolution images, self-sufficient objects (vehicle, building) are represented by a large number of pixels. Methods dealing with Object-Based Image Analysis (OBIA) provide help. Objects (segments) are groupings of pixels resulting from image segmentation algorithms based on homogeneity criteria. The image set is represented by image segments, which allows the development of rule-based analysis schemes. For example, segments can be described or categorized by their local neighborhood in a context-based manner. In this paper, a novel method for the segmentation of high resolution SAR images is presented. It is based on the calculation of morphological differential attribute profiles (DAP) which are analyzed pixel-wise in a region growing procedure. The method distinguishes between heterogeneous and homogeneous image content and delivers a precise segmentation result.

  4. Cooperative processes in image segmentation

    NASA Technical Reports Server (NTRS)

    Davis, L. S.

    1982-01-01

    Research into the role of cooperative, or relaxation, processes in image segmentation is surveyed. Cooperative processes can be employed at several levels of the segmentation process as a preprocessing enhancement step, during supervised or unsupervised pixel classification and, finally, for the interpretation of image segments based on segment properties and relations.

  5. Phasing a segmented telescope

    NASA Astrophysics Data System (ADS)

    Paykin, Irina; Yacobi, Lee; Adler, Joan; Ribak, Erez N.

    2015-02-01

    A crucial part of segmented or multiple-aperture systems is control of the optical path difference between the segments or subapertures. In order to achieve optimal performance we have to phase subapertures to within a fraction of the wavelength, and this requires high accuracy of positioning for each subaperture. We present simulations and hardware realization of a simulated annealing algorithm in an active optical system with sparse segments. In order to align the optical system we applied the optimization algorithm to the image itself. The main advantage of this method over traditional correction methods is that wave-front-sensing hardware and software are no longer required, making the optical and mechanical system much simpler. The results of simulations and laboratory experiments demonstrate the ability of this optimization algorithm to correct both piston and tip-tilt errors.

  6. Segmented annular combustor

    DOEpatents

    Reider, Samuel B.

    1979-01-01

    An industrial gas turbine engine includes an inclined annular combustor made up of a plurality of support segments each including inner and outer walls of trapezoidally configured planar configuration extents and including side flanges thereon interconnected by means of air cooled connector bolt assemblies to form a continuous annular combustion chamber therebetween and wherein an air fuel mixing chamber is formed at one end of the support segments including means for directing and mixing fuel within a plenum and a perforated header plate for directing streams of air and fuel mixture into the combustion chamber; each of the outer and inner walls of each of the support segments having a ribbed lattice with tracks slidably supporting porous laminated replaceable panels and including pores therein for distributing combustion air into the combustion chamber while cooling the inner surface of each of the panels by transpiration cooling thereof.

  7. Phasing a segmented telescope.

    PubMed

    Paykin, Irina; Yacobi, Lee; Adler, Joan; Ribak, Erez N

    2015-02-01

    A crucial part of segmented or multiple-aperture systems is control of the optical path difference between the segments or subapertures. In order to achieve optimal performance we have to phase subapertures to within a fraction of the wavelength, and this requires high accuracy of positioning for each subaperture. We present simulations and hardware realization of a simulated annealing algorithm in an active optical system with sparse segments. In order to align the optical system we applied the optimization algorithm to the image itself. The main advantage of this method over traditional correction methods is that wave-front-sensing hardware and software are no longer required, making the optical and mechanical system much simpler. The results of simulations and laboratory experiments demonstrate the ability of this optimization algorithm to correct both piston and tip-tilt errors. PMID:25768631

  8. Head segmentation in vertebrates

    PubMed Central

    Kuratani, Shigeru; Schilling, Thomas

    2008-01-01

    Classic theories of vertebrate head segmentation clearly exemplify the idealistic nature of comparative embryology prior to the 20th century. Comparative embryology aimed at recognizing the basic, primary structure that is shared by all vertebrates, either as an archetype or an ancestral developmental pattern. Modern evolutionary developmental (Evo-Devo) studies are also based on comparison, and therefore have a tendency to reduce complex embryonic anatomy into overly simplified patterns. Here again, a basic segmental plan for the head has been sought among chordates. We convened a symposium that brought together leading researchers dealing with this problem, in a number of different evolutionary and developmental contexts. Here we give an overview of the outcome and the status of the field in this modern era of Evo-Devo. We emphasize the fact that the head segmentation problem is not fully resolved, and we discuss new directions in the search for hints for a way out of this maze. PMID:20607135

  9. Transposition of a duplicate antibiotic resistance gene and generation of deletions in plasmid R6K.

    PubMed Central

    Holmans, P L; Clowes, R C

    1979-01-01

    Transformation experiments showed that spontaneous deletions which result in loss of streptomycin resistance and an increase in conjugal transfer efficiency are present at a frequency of about 10(-4) in plasmid molecules of R6K. Similar deletions were thus readily selected by conjugal transfer of R6K, and their appearance was dependent upon recA+ activity in either donor or recipient host. The deoxyribonucleic acid segment deleted in four mutants examined was concluded to extend from the same terminus of the transposon, TnA, in the same direction, but to different extents, and to retain the TnA region intact. Insertions of a duplicate TnA element were found in R6K plasmids isolated from strains selected for increased ampicillin resistance, which were unstable in recA+ strains. In four plasmids examined after transfer to a recA host, an inverted repeat of the preexisting TnA element was shown to have been inserted at a similar location and was in two instances associated with deletions which extended from the same direction as those described above. The deletions are ascribed to the result of recA+-dependent recombination between direct repeats of TnA. Images PMID:370107

  10. 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

  11. 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

  12. 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

  13. 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.

  14. The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development.

    PubMed

    Vulin, Adeline; Wein, Nicolas; Simmons, Tabatha R; Rutherford, Andrea M; Findlay, Andrew R; Yurkoski, Jacqueline A; Kaminoh, Yuuki; Flanigan, Kevin M

    2015-11-01

    Exon duplication mutations account for up to 11% of all cases of Duchenne muscular dystrophy (DMD), and a duplication of exon 2 is the most common duplication in patients. For use as a platform for testing of duplication-specific therapies, we developed a mouse model that carries a Dmd exon 2 duplication. By using homologous recombination we duplicated exon 2 within intron 2 at a location consistent with a human duplication hotspot. mRNA analysis confirms the inclusion of a duplicated exon 2 in mouse muscle. Dystrophin expression is essentially absent by immunofluorescent and immunoblot analysis, although some muscle specimens show very low-level trace dystrophin expression. Phenotypically, the mouse shows similarities to mdx, the standard laboratory model of DMD. In skeletal muscle, areas of necrosis and phagocytosis are seen at 3 weeks, with central nucleation prominent by four weeks, recapitulating the "crisis" period in mdx. Marked diaphragm fibrosis is noted by 6 months, and remains unchanged at 12 months. Our results show that the Dup2 mouse is both pathologically (in degree and distribution) and physiologically similar to mdx. As it recapitulates the most common single exon duplication found in DMD patients, this new model will be a useful tool to assess the potential of duplicated exon skipping. PMID:26365037

  15. 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

  16. A Limited Role for Gene Duplications in the Evolution of Platypus Venom

    PubMed Central

    Wong, Emily S. W.; Papenfuss, Anthony T.; Whittington, Camilla M.; Warren, Wesley C.; Belov, Katherine

    2012-01-01

    Gene duplication followed by adaptive selection is believed to be the primary driver of venom evolution. However, to date, no studies have evaluated the importance of gene duplications for venom evolution using a genomic approach. The availability of a sequenced genome and a venom gland transcriptome for the enigmatic platypus provides a unique opportunity to explore the role that gene duplication plays in venom evolution. Here, we identify gene duplication events and correlate them with expressed transcripts in an in-season venom gland. Gene duplicates (1,508) were identified. These duplicated pairs (421), including genes that have undergone multiple rounds of gene duplications, were expressed in the venom gland. The majority of these genes are involved in metabolism and protein synthesis not toxin functions. Twelve secretory genes including serine proteases, metalloproteinases, and protease inhibitors likely to produce symptoms of envenomation such as vasodilation and pain were detected. Only 16 of 107 platypus genes with high similarity to known toxins evolved through gene duplication. Platypus venom C-type natriuretic peptides and nerve growth factor do not possess lineage-specific gene duplicates. Extensive duplications, believed to increase the potency of toxic content and promote toxin diversification, were not found. This is the first study to take a genome-wide approach in order to examine the impact of gene duplication on venom evolution. Our findings support the idea that adaptive selection acts on gene duplicates to drive the independent evolution and functional diversification of similar venom genes in venomous species. However, gene duplications alone do not explain the “venome” of the platypus. Other mechanisms, such as alternative splicing and mutation, may be important in venom innovation. PMID:21816864

  17. Repair of adjacent single-strand breaks is often accompanied by the formation of tandem sequence duplications in plant genomes.

    PubMed

    Schiml, Simon; Fauser, Friedrich; Puchta, Holger

    2016-06-28

    Duplication of existing sequences is a major mechanism of genome evolution. It has been previously shown that duplications can occur by replication slippage, unequal sister chromatid exchange, homologous recombination, and aberrant double-strand break-induced synthesis-dependent strand annealing reactions. In a recent study, the abundant presence of short direct repeats was documented by comparative bioinformatics analysis of different rice genomes, and the hypothesis was put forward that such duplications might arise due to the concerted repair of adjacent single-strand breaks (SSBs). Applying the CRISPR/Cas9 technology, we were able to test this hypothesis experimentally in the model plant Arabidopsis thaliana Using a Cas9 nickase to induce adjacent genomic SSBs in different regions of the genome (genic, intergenic, and heterochromatic) and at different distances (∼20, 50, and 100 bps), we analyzed the repair outcomes by deep sequencing. In addition to deletions, we regularly detected the formation of direct repeats close to the break sites, independent of the genomic context. The formation of these duplications as well as deletions may be associated with the presence of microhomologies. Most interestingly, we found that even the induction of two SSBs on the same DNA strand can cause genome alterations, albeit at a much lower level. Because such a scenario reflects a natural step during nucleotide excision repair, and given that the germline is set aside only late during development in plants, the repair of adjacent SSBs indeed seems to have an important influence on the shaping of plant genomes during evolution. PMID:27307441

  18. The NPOESS Preparatory Project Science Data Segment (SDS) Data Depository and Distribution Element (SD3E) System Architecture

    NASA Technical Reports Server (NTRS)

    Ho, Evelyn L.; Schweiss, Robert J.

    2008-01-01

    The National Polar-orbiting Operational Environmental Satellite System (NPOESS) Preparatory Project (NPP) Science Data Segment (SDS) will make daily data requests for approximately six terabytes of NPP science products for each of its six environmental assessment elements from the operational data providers. As a result, issues associated with duplicate data requests, data transfers of large volumes of diverse products, and data transfer failures raised concerns with respect to the network traffic and bandwidth consumption. The NPP SDS Data Depository and Distribution Element (SD3E) was developed to provide a mechanism for efficient data exchange, alleviate duplicate network traffic, and reduce operational costs.

  19. Automatic brain tumor segmentation

    NASA Astrophysics Data System (ADS)

    Clark, Matthew C.; Hall, Lawrence O.; Goldgof, Dmitry B.; Velthuizen, Robert P.; Murtaugh, F. R.; Silbiger, Martin L.

    1998-06-01

    A system that automatically segments and labels complete glioblastoma-multiform tumor volumes in magnetic resonance images of the human brain is presented. The magnetic resonance images consist of three feature images (T1- weighted, proton density, T2-weighted) and are processed by a system which integrates knowledge-based techniques with multispectral analysis and is independent of a particular magnetic resonance scanning protocol. Initial segmentation is performed by an unsupervised clustering algorithm. The segmented image, along with cluster centers for each class are provided to a rule-based expert system which extracts the intra-cranial region. Multispectral histogram analysis separates suspected tumor from the rest of the intra-cranial region, with region analysis used in performing the final tumor labeling. This system has been trained on eleven volume data sets and tested on twenty-two unseen volume data sets acquired from a single magnetic resonance imaging system. The knowledge-based tumor segmentation was compared with radiologist-verified `ground truth' tumor volumes and results generated by a supervised fuzzy clustering algorithm. The results of this system generally correspond well to ground truth, both on a per slice basis and more importantly in tracking total tumor volume during treatment over time.

  20. [Toxic anterior segment syndrome].

    PubMed

    Cornut, P-L; Chiquet, C

    2011-01-01

    Toxic anterior segment syndrome (TASS) is a general term used to describe acute, sterile postoperative inflammation due to a non-infectious substance that accidentally enters the anterior segment at the time of surgery and mimics infectious endophthalmitis. TASS most commonly occurs acutely following anterior segment surgery, typically 12-72h after cataract extraction. Anterior segment inflammation is usually quite severe with hypopyon. Endothelial cell damage is common, resulting in diffuse corneal edema. No bacterium is isolated from ocular samples. The causes of TASS are numerous and difficult to isolate. Any device or substance used during the surgery or in the immediate postoperative period may be implicated. The major known causes include: preservatives in ophthalmic solutions, denatured ophthalmic viscosurgical devices, bacterial endotoxin, and intraocular lens-induced inflammation. Clinical features of infectious and non-infectious inflammation are initially indistinguishable and TASS is usually diagnosed and treated as acute endophthalmitis. It usually improves with local steroid treatment but may result in chronic elevation of intraocular pressure or irreversible corneal edema due to permanent damage of trabecular meshwork or endothelial cells. PMID:21176994

  1. Find Duplicates among the PubMed, EMBASE, and Cochrane Library Databases in Systematic Review

    PubMed Central

    Wang, Juan; Han, Guohong; Fan, Daiming

    2013-01-01

    Background Finding duplicates is an important phase of systematic review. However, no consensus regarding the methods to find duplicates has been provided. This study aims to describe a pragmatic strategy of combining auto- and hand-searching duplicates in systematic review and to evaluate the prevalence and characteristics of duplicates. Methods and Findings Literatures regarding portal vein thrombosis (PVT) and Budd-Chiari syndrome (BCS) were searched by the PubMed, EMBASE, and Cochrane library databases. Duplicates included one index paper and one or more redundant papers. They were divided into type-I (duplicates among different databases) and type-II (duplicate publications in different journals/issues) duplicates. For type-I duplicates, reference items were further compared between index and redundant papers. Of 10936 papers regarding PVT, 2399 and 1307 were identified as auto- and hand-searched duplicates, respectively. The prevalence of auto- and hand-searched redundant papers was 11.0% (1201/10936) and 6.1% (665/10936), respectively. They included 3431 type-I and 275 type-II duplicates. Of 11403 papers regarding BCS, 3275 and 2064 were identified as auto- and hand-searched duplicates, respectively. The prevalence of auto- and hand-searched redundant papers was 14.4% (1640/11403) and 9.1% (1039/11403), respectively. They included 5053 type-I and 286 type-II duplicates. Most of type-I duplicates were identified by auto-searching method (69.5%, 2385/3431 in PVT literatures; 64.6%, 3263/5053 in BCS literatures). Nearly all type-II duplicates were identified by hand-searching method (94.9%, 261/275 in PVT literatures; 95.8%, 274/286 in BCS literatures). Compared with those identified by auto-searching method, type-I duplicates identified by hand-searching method had a significantly higher prevalence of wrong items (47/2385 versus 498/1046, p<0.0001 in PVT literatures; 30/3263 versus 778/1790, p<0.0001 in BCS literatures). Most of wrong items originated from

  2. Partial facial duplication (diprosopus) in a goat kid.

    PubMed

    Mukaratirwa, S; Sayi, S T

    2006-03-01

    The anatomical and clinical features of a live-born diprosopic goat kid are described. The kid had two faces with two eyes each, two complete oral cavities and nostrils and two ears. Caudal to the neck, the kid grossly appeared normal. Both mouths of the kid showed synchronous suckling motions. Elevated respiratory and heart rates were recorded and the temperature was subnormal. Radiological examination showed a single trunk and vertebral column, normal limbs, two sets of jaws, three orbits, and contrast radiography revealed a single patent oesophagus. There was maxillary and mandibular duplication resulting in two faces. There was a cleft palate. The oropharyngeal regions of each face merged to form a single laryngopharynx and oesophagus. There was a single brain with hypoplasia of the cerebellum. The left and right cerebral hemispheres were fused rostrally, and there was duplication of the optic chiasma and the pituitary gland. The olfactory tract was absent and the superficial origins of most of the cranial nerves were not discernible. PMID:16700476

  3. Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

    PubMed

    Millson, Alison; Lewis, Tracey; Pesaran, Tina; Salvador, David; Gillespie, Katrina; Gau, Chia-Ling; Pont-Kingdon, Genevieve; Lyon, Elaine; Bayrak-Toydemir, Pinar

    2015-09-01

    Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. SMAD4 is part of the SMAD gene family. To date, there has been no report in the literature of a SMAD4 pseudogene. An unusual SMAD4 duplication pattern was seen in multiple patient samples using two different duplication/deletion platforms: multiplex ligation-dependent probe amplification and chromosomal microarray. Follow-up confirmatory testing included real-time quantitative PCR and sequencing of an exon/exon junction, all results leading to the conclusion of the existence of a processed pseudogene. Examination of clinical results from two laboratories found a frequency of 0.26% (12 in 4672 cases) for this processed pseudogene. This is the first report of the presence of a processed pseudogene for SMAD4. We believe that knowledge of its existence is important for accurate interpretation of clinical diagnostic test results and for new assay designs. This study also indicates how a processed pseudogene may confound quantitative results, dependent on placement of probes and/or primers in a particular assay design, potentially leading to both false-positive and false-negative results. We also found that the SMAD4 processed pseudogene affects next-generation sequencing results by confounding the alignment of the sequences, resulting in erroneous variant calls. We recommend Sanger sequencing confirmation for SMAD4 variants. PMID:26165824

  4. Infantile spasms associated with proximal duplication of chromosome 15q.

    PubMed

    Bingham, P M; Spinner, N B; Sovinsky, L; Zackai, E H; Chance, P F

    1996-09-01

    We describe a case of infantile spasms associated with a chromosome abnormality (supernumerary inverted duplication of chromosome 15 [47,XX,+inv dup(15)]). The patient was nondysmorphic and presented with mild hypotonia and delay in acquisition of gross motor milestones before the diagnosis of seizures at age 7 months. Additional features included unilateral sensorineural deafness and torticollis. Molecular cytogenetic studies confirmed that the patient has a large inv dup(15). Inv dup(15) chromosomes are variable with respect to the size and genetic composition of the chromosome and in their phenotypic effects. Patients with small inv dup(15s) may have no phenotypic abnormalities, whereas patients with large inv dup(15s) may have multiple abnormalities. ACTH therapy resulted in prompt remission of seizures and resolution of EEG abnormalities. This is the second report of a patient with IS and a supernumerary inv dup(15). Several genes code for neurotransmitter receptor subunits located in the duplicated region of chromosome 15, and abnormal dosage of these genes may be involved in the genesis of seizure activity in carriers of the inv dup(15). Chromosome analysis may lead to a specific diagnosis in infants with unexplained infantile spasms. PMID:8888053

  5. Early genome duplications in conifers and other seed plants

    PubMed Central

    Li, Zheng; Baniaga, Anthony E.; Sessa, Emily B.; Scascitelli, Moira; Graham, Sean W.; Rieseberg, Loren H.; Barker, Michael S.

    2015-01-01

    Polyploidy is a common mode of speciation and evolution in angiosperms (flowering plants). In contrast, there is little evidence to date that whole genome duplication (WGD) has played a significant role in the evolution of their putative extant sister lineage, the gymnosperms. Recent analyses of the spruce genome, the first published conifer genome, failed to detect evidence of WGDs in gene age distributions and attributed many aspects of conifer biology to a lack of WGDs. We present evidence for three ancient genome duplications during the evolution of gymnosperms, based on phylogenomic analyses of transcriptomes from 24 gymnosperms and 3 outgroups. We use a new algorithm to place these WGD events in phylogenetic context: two in the ancestry of major conifer clades (Pinaceae and cupressophyte conifers) and one in Welwitschia (Gnetales). We also confirm that a WGD hypothesized to be restricted to seed plants is indeed not shared with ferns and relatives (monilophytes), a result that was unclear in earlier studies. Contrary to previous genomic research that reported an absence of polyploidy in the ancestry of contemporary gymnosperms, our analyses indicate that polyploidy has contributed to the evolution of conifers and other gymnosperms. As in the flowering plants, the evolution of the large genome sizes of gymnosperms involved both polyploidy and repetitive element activity. PMID:26702445

  6. Early genome duplications in conifers and other seed plants.

    PubMed

    Li, Zheng; Baniaga, Anthony E; Sessa, Emily B; Scascitelli, Moira; Graham, Sean W; Rieseberg, Loren H; Barker, Michael S

    2015-11-01

    Polyploidy is a common mode of speciation and evolution in angiosperms (flowering plants). In contrast, there is little evidence to date that whole genome duplication (WGD) has played a significant role in the evolution of their putative extant sister lineage, the gymnosperms. Recent analyses of the spruce genome, the first published conifer genome, failed to detect evidence of WGDs in gene age distributions and attributed many aspects of conifer biology to a lack of WGDs. We present evidence for three ancient genome duplications during the evolution of gymnosperms, based on phylogenomic analyses of transcriptomes from 24 gymnosperms and 3 outgroups. We use a new algorithm to place these WGD events in phylogenetic context: two in the ancestry of major conifer clades (Pinaceae and cupressophyte conifers) and one in Welwitschia (Gnetales). We also confirm that a WGD hypothesized to be restricted to seed plants is indeed not shared with ferns and relatives (monilophytes), a result that was unclear in earlier studies. Contrary to previous genomic research that reported an absence of polyploidy in the ancestry of contemporary gymnosperms, our analyses indicate that polyploidy has contributed to the evolution of conifers and other gymnosperms. As in the flowering plants, the evolution of the large genome sizes of gymnosperms involved both polyploidy and repetitive element activity. PMID:26702445

  7. Duplicate Publication and Related Problems in the Pediatrics Literature

    PubMed Central

    Haworth, Rebecca; Anderson, Katherine

    2014-01-01

    Objective. The aim of this study was to (a) determine the rate of redundant publication in the pediatrics literature and (b) to characterize these articles. Methods. Index articles in JAMA Pediatrics, Pediatrics, and the Journal of Pediatrics from 2010 were identified using PubMed. Possible redundant material from 2008 to 2012 were searched using the authors’ names. Suspected duplicates were categorized into “duplicate publication” or “salami-slicing” (part of the index article repeated or continued). Results. Of the 1838 index articles, 39 (2.1%) were found to have some form of redundancy. Specifically, 45 articles were identified as salami-sliced, which corresponded to the 39 index articles. Fifteen salami-sliced articles did not reference the corresponding index article, 2 vaguely referenced the index article, and 28 had clear references to the respective index article. Conclusion. Salami-slicing was a common practice. Salami-slicing may be acceptable in certain cases but authors should clearly reference the index article.

  8. Portable automatic blood analyzer

    NASA Technical Reports Server (NTRS)

    Coleman, R. L.

    1975-01-01

    Analyzer employs chemical-sensing electrodes for determination of blood, gas, and ion concentrations. It is rugged, easily serviced, and comparatively simple to operate. System can analyze up to eight parameters and can be modified to measure other blood constituents including nonionic species, such as urea, glucose, and oxygen.

  9. Analyzing Peace Pedagogies

    ERIC Educational Resources Information Center

    Haavelsrud, Magnus; Stenberg, Oddbjorn

    2012-01-01

    Eleven articles on peace education published in the first volume of the Journal of Peace Education are analyzed. This selection comprises peace education programs that have been planned or carried out in different contexts. In analyzing peace pedagogies as proposed in the 11 contributions, we have chosen network analysis as our method--enabling…

  10. Analyzing Costs of Services.

    ERIC Educational Resources Information Center

    Cox, James O.; Black, Talbot

    A simplified method to gather and analyze cost data is presented for administrators of Handicapped Children's Early Education Programs, and specifically for members of the Technical Assistance Development System, North Carolina. After identifying benefits and liabilities associated with analyzing program costs, attention is focused on the internal…

  11. Spectral segmentation of polygonized images with normalized cuts

    SciTech Connect

    Matsekh, Anna; Skurikhin, Alexei; Rosten, Edward

    2009-01-01

    We analyze numerical behavior of the eigenvectors corresponding to the lowest eigenvalues of the generalized graph Laplacians arising in the Normalized Cuts formulations of the image segmentation problem on coarse polygonal grids.

  12. The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

    PubMed

    Sanmann, Jennifer N; Casas, Kari A; Bevilacqua, Jen; Bishay, Danielle L; Clark, Tanner; Van Dyke, A Zephyr; Leiferman, Patricia Crotwell; Reddi, Honey V; Starr, Lois J

    2016-09-01

    Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8-year-old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191-95395865; hg19) who exhibited dysmorphic facial features, seizures, global developmental delay, intellectual disability, autism spectrum disorder, sensorineural hearing loss, and immune deficiency. This patient refines and potentially expands the current, poorly-characterized phenotype associated with duplication of this proximal 6q region. We recommend a low threshold for a hearing evaluation beyond newborn screening and for pursuing an immune work-up in patients with similar 6q duplications. © 2016 Wiley Periodicals, Inc. PMID:27338032

  13. Patterns of Gene Conversion in Duplicated Yeast Histones Suggest Strong Selection on a Coadapted Macromolecular Complex

    PubMed Central

    Scienski, Kathy; Fay, Justin C.; Conant, Gavin C.

    2015-01-01

    We find evidence for interlocus gene conversion in five duplicated histone genes from six yeast species. The sequences of these duplicated genes, surviving from the ancient genome duplication, show phylogenetic patterns inconsistent with the well-resolved orthology relationships inferred from a likelihood model of gene loss after the genome duplication. Instead, these paralogous genes are more closely related to each other than any is to its nearest ortholog. In addition to simulations supporting gene conversion, we also present evidence for elevated rates of radical amino acid substitutions along the branches implicated in the conversion events. As these patterns are similar to those seen in ribosomal proteins that have undergone gene conversion, we speculate that in cases where duplicated genes code for proteins that are a part of tightly interacting complexes, selection may favor the fixation of gene conversion events in order to maintain high protein identities between duplicated copies. PMID:26560339

  14. Laparoscopic resection of an intra-abdominal esophageal duplication cyst: a case report and literature review.

    PubMed

    Watanobe, Ikuo; Ito, Yuzuru; Akimoto, Eigo; Sekine, Yuuki; Haruyama, Yurie; Amemiya, Kota; Kawano, Fumihiro; Fujita, Shohei; Omori, Satoshi; Miyano, Shozo; Kosaka, Taijiro; Machida, Michio; Kitabatake, Toshiaki; Kojima, Kuniaki; Sakaguchi, Asumi; Ogura, Kanako; Matsumoto, Toshiharu

    2015-01-01

    Duplication of the alimentary tract is a rare congenital malformation that occurs most often in the abdominal region, whereas esophageal duplication cyst develops typically in the thoracic region but occasionally in the neck and abdominal regions. Esophageal duplication cyst is usually diagnosed in early childhood because of symptoms related to bleeding, infection, and displacement of tissue surrounding the lesion. We recently encountered a rare adult case of esophageal duplication cyst in the abdominal esophagus. A 50-year-old man underwent gastroscopy, endoscopic ultrasonography, computed tomography, and magnetic resonance imaging to investigate epigastric pain and dysphagia that started 3 months earlier. Imaging findings suggested esophageal duplication cyst, and the patient underwent laparoscopic resection followed by intraoperative esophagoscopy to reconstruct the esophagus safely and effectively. Histopathological examination of the resected specimen revealed two layers of smooth muscle in the cystic wall, confirming the diagnosis of esophageal duplication cyst. PMID:25883826

  15. 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

    SciTech Connect

    Blair, I.P.; Nash, J.; Gordon, M.J.; Nicholson, G.A.

    1996-03-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Sporadic cases of CMT have been described since the earliest reports of the disease. The most frequent form of the disorder, CMT1A, is associated with a 1.5-Mb DNA duplication on chromosome 17p11.2, which segregates with the disease. In order to investigate the prevalence of de novo CMT1A duplications, this study examined 118 duplication-positive CMT1A families. In 10 of these families it was demonstrated that the disease had arisen as the result of a de novo mutation. By taking into account the ascertainment of families, it can be estimated that {>=}10% of autosomal dominant CMT1 families are due to de novo duplications. The CMT1A duplication is thought to be the product of unequal crossing over between parental chromosome 17 homologues during meiosis. Polymorphic markers from within the duplicated region were used to determine the parental origin of these de novo duplications in eight informative families. Seven were of paternal and one of maternal origin. This study represents the first report of a de novo duplication with a maternal origin and indicates that it is not a phenomenon associated solely with male meioses. Recombination fractions for the region duplicated in CMT1A are larger in females than in males. That suggests that oogenesis may be afforded greater protection from misalignment during synapsis, and/or that there may be lower activity of those factors or mechanisms that lead to unequal crossing over at the CMT1A locus. 41 refs., 2 figs.

  16. Duplication train of SO-212 film for Skylab S-056 experiment

    NASA Technical Reports Server (NTRS)

    Maas, K. A.

    1975-01-01

    A section of film type SO-212 containing resolution targets was printed onto film type 5302 to produce a second generation master positive. This positive was then printed onto negative duplicating film type 5234. Samples and enlargements from sections of the film are presented. The original film is free of physical defects from this duplicating test. It has been demonstrated that SO-212 film can be duplicated without appreciable harm to the original.

  17. Gene Duplicability of Core Genes Is Highly Consistent across All Angiosperms[OPEN

    PubMed Central

    Li, Zhen; Van de Peer, Yves; De Smet, Riet

    2016-01-01

    Gene duplication is an important mechanism for adding to genomic novelty. Hence, which genes undergo duplication and are preserved following duplication is an important question. It has been observed that gene duplicability, or the ability of genes to be retained following duplication, is a nonrandom process, with certain genes being more amenable to survive duplication events than others. Primarily, gene essentiality and the type of duplication (small-scale versus large-scale) have been shown in different species to influence the (long-term) survival of novel genes. However, an overarching view of “gene duplicability” is lacking, mainly due to the fact that previous studies usually focused on individual species and did not account for the influence of genomic context and the time of duplication. Here, we present a large-scale study in which we investigated duplicate retention for 9178 gene families shared between 37 flowering plant species, referred to as angiosperm core gene families. For most gene families, we observe a strikingly consistent pattern of gene duplicability across species, with gene families being either primarily single-copy or multicopy in all species. An intermediate class contains gene families that are often retained in duplicate for periods extending to tens of millions of years after whole-genome duplication, but ultimately appear to be largely restored to singleton status, suggesting that these genes may be dosage balance sensitive. The distinction between single-copy and multicopy gene families is reflected in their functional annotation, with single-copy genes being mainly involved in the maintenance of genome stability and organelle function and multicopy genes in signaling, transport, and metabolism. The intermediate class was overrepresented in regulatory genes, further suggesting that these represent putative dosage-balance-sensitive genes. PMID:26744215

  18. Segmentation of stereo terrain images

    NASA Astrophysics Data System (ADS)

    George, Debra A.; Privitera, Claudio M.; Blackmon, Theodore T.; Zbinden, Eric; Stark, Lawrence W.

    2000-06-01

    We have studied four approaches to segmentation of images: three automatic ones using image processing algorithms and a fourth approach, human manual segmentation. We were motivated toward helping with an important NASA Mars rover mission task -- replacing laborious manual path planning with automatic navigation of the rover on the Mars terrain. The goal of the automatic segmentations was to identify an obstacle map on the Mars terrain to enable automatic path planning for the rover. The automatic segmentation was first explored with two different segmentation methods: one based on pixel luminance, and the other based on pixel altitude generated through stereo image processing. The third automatic segmentation was achieved by combining these two types of image segmentation. Human manual segmentation of Martian terrain images was used for evaluating the effectiveness of the combined automatic segmentation as well as for determining how different humans segment the same images. Comparisons between two different segmentations, manual or automatic, were measured using a similarity metric, SAB. Based on this metric, the combined automatic segmentation did fairly well in agreeing with the manual segmentation. This was a demonstration of a positive step towards automatically creating the accurate obstacle maps necessary for automatic path planning and rover navigation.

  19. Insect segmentation: Genes, stripes and segments in "Hoppers".

    PubMed

    French, V

    2001-11-13

    Recent work has revealed that orthologues of several segmentation genes are expressed in the grasshopper embryo, in patterns resembling those shown in Drosophila. This suggests that, despite great differences between the embryos, a hierarchy of gap/pair-rule/segment polarity gene function may be a shared and ancestral feature of insect segmentation. PMID:11719236

  20. Military display market segment: helicopters

    NASA Astrophysics Data System (ADS)

    Desjardins, Daniel D.; Hopper, Darrel G.

    2004-09-01

    The military display market is analyzed in terms of one of its segments: helicopter displays. Parameters requiring special consideration, to include luminance ranges, contrast ratio, viewing angles, and chromaticity coordinates, are examined. Performance requirements for rotary-wing displays relative to several premier applications are summarized. Display sizes having aggregate defense applications of 5,000 units or greater and having DoD applications across 10 or more platforms, are tabulated. The issue of size commonality is addressed where distribution of active area sizes across helicopter platforms, individually, in groups of two through nine, and ten or greater, is illustrated. Rotary-wing displays are also analyzed by technology, where total quantities of such displays are broken out into CRT, LCD, AMLCD, EM, LED, Incandescent, Plasma and TFEL percentages. Custom, versus Rugged commercial, versus commercial off-the-shelf designs are contrasted. High and low information content designs are identified. Displays for several high-profile military helicopter programs are discussed, to include both technical specifications and program history. The military display market study is summarized with breakouts for the helicopter market segment. Our defense-wide study as of March 2004 has documented 1,015,494 direct view and virtual image displays distributed across 1,181 display sizes and 503 weapon systems. Helicopter displays account for 67,472 displays (just 6.6% of DoD total) and comprise 83 sizes (7.0% of total DoD) in 76 platforms (15.1% of total DoD). Some 47.6% of these rotary-wing applications involve low information content displays comprising just a few characters in one color; however, as per fixed-wing aircraft, the predominant instantiation involves higher information content units capable of showing changeable graphics, color and video.

  1. A green-cotyledon/stay-green mutant exemplifies the ancient whole-genome duplications in soybean.

    PubMed

    Nakano, Michiharu; Yamada, Tetsuya; Masuda, Yu; Sato, Yutaka; Kobayashi, Hideki; Ueda, Hiroaki; Morita, Ryouhei; Nishimura, Minoru; Kitamura, Keisuke; Kusaba, Makoto

    2014-10-01

    The recent whole-genome sequencing of soybean (Glycine max) revealed that soybean experienced whole-genome duplications 59 million and 13 million years ago, and it has an octoploid-like genome in spite of its diploid nature. We analyzed a natural green-cotyledon mutant line, Tenshin-daiseitou. The physiological analysis revealed that Tenshin-daiseitou shows a non-functional stay-green phenotype in senescent leaves, which is similar to that of the mutant of Mendel's green-cotyledon gene I, the ortholog of SGR in pea. The identification of gene mutations and genetic segregation analysis suggested that defects in GmSGR1 and GmSGR2 were responsible for the green-cotyledon/stay-green phenotype of Tenshin-daiseitou, which was confirmed by RNA interference (RNAi) transgenic soybean experiments using GmSGR genes. The characterized green-cotyledon double mutant d1d2 was found to have the same mutations, suggesting that GmSGR1 and GmSGR2 are D1 and D2. Among the examined d1d2 strains, the d1d2 strain K144a showed a lower Chl a/b ratio in mature seeds than other strains but not in senescent leaves, suggesting a seed-specific genetic factor of the Chl composition in K144a. Analysis of the soybean genome sequence revealed four genomic regions with microsynteny to the Arabidopsis SGR1 region, which included the GmSGR1 and GmSGR2 regions. The other two regions contained GmSGR3a/GmSGR3b and GmSGR4, respectively, which might be pseudogenes or genes with a function that is unrelated to Chl degradation during seed maturation and leaf senescence. These GmSGR genes were thought to be produced by the two whole-genome duplications, and they provide a good example of such whole-genome duplication events in the evolution of the soybean genome. PMID:25108243

  2. Error analysis of filtering operations in pixel-duplicated images of diabetic retinopathy

    NASA Astrophysics Data System (ADS)

    Mehrubeoglu, Mehrube; McLauchlan, Lifford

    2010-08-01

    In this paper, diabetic retinopathy is chosen for a sample target image to demonstrate the effectiveness of image enlargement through pixel duplication in identifying regions of interest. Pixel duplication is presented as a simpler alternative to data interpolation techniques for detecting small structures in the images. A comparative analysis is performed on different image processing schemes applied to both original and pixel-duplicated images. Structures of interest are detected and and classification parameters optimized for minimum false positive detection in the original and enlarged retinal pictures. The error analysis demonstrates the advantages as well as shortcomings of pixel duplication in image enhancement when spatial averaging operations (smoothing filters) are also applied.

  3. A colonic duplication cyst causing bowel ischaemia in a 74-year-old lady

    PubMed Central

    Fenelon, Christopher; Boland, Michael R; Kenny, Brian; Faul, Peter; Tormey, Shona

    2016-01-01

    Colonic duplication cysts are rare congenital malformations that predominantly present before the age of 2 years. We report the case of a 74-year-old lady who presented with sudden onset abdominal pain. A computed tomography scan noted a calcified structure adjacent to abnormal loops of bowel. Intraoperative findings revealed an ischaemic loop of small bowel wrapped around a mass in the mesentery adjacent to the sigmoid colon. Final histology revealed a colonic duplication cyst. Colonic duplication cysts are rare entities that most commonly cause obstruction or perforation. We present the very rare case of a colonic duplication cyst causing bowel ischaemia in an elderly female. PMID:27572680

  4. Gene Duplicability-Connectivity-Complexity across Organisms and a Neutral Evolutionary Explanation

    PubMed Central

    Zhu, Yun; Du, Peng; Nakhleh, Luay

    2012-01-01

    Gene duplication has long been acknowledged by biologists as a major evolutionary force shaping genomic architectures and characteristics across the Tree of Life. Major research has been conducting on elucidating the fate of duplicated genes in a variety of organisms, as well as factors that affect a gene’s duplicability–that is, the tendency of certain genes to retain more duplicates than others. In particular, two studies have looked at the correlation between gene duplicability and its degree in a protein-protein interaction network in yeast, mouse, and human, and another has looked at the correlation between gene duplicability and its complexity (length, number of domains, etc.) in yeast. In this paper, we extend these studies to six species, and two trends emerge. There is an increase in the duplicability-connectivity correlation that agrees with the increase in the genome size as well as the phylogenetic relationship of the species. Further, the duplicability-complexity correlation seems to be constant across the species. We argue that the observed correlations can be explained by neutral evolutionary forces acting on the genomic regions containing the genes. For the duplicability-connectivity correlation, we show through simulations that an increasing trend can be obtained by adjusting parameters to approximate genomic characteristics of the respective species. Our results call for more research into factors, adaptive and non-adaptive alike, that determine a gene’s duplicability. PMID:22984517

  5. Tempo and Mode of Gene Duplication in Mammalian Ribosomal Protein Evolution

    PubMed Central

    Gajdosik, Matthew D.; Simon, Amanda; Nelson, Craig E.

    2014-01-01

    Gene duplication has been widely recognized as a major driver of evolutionary change and organismal complexity through the generation of multi-gene families. Therefore, understanding the forces that govern the evolution of gene families through the retention or loss of duplicated genes is fundamentally important in our efforts to study genome evolution. Previous work from our lab has shown that ribosomal protein (RP) genes constitute one of the largest classes of conserved duplicated genes in mammals. This result was surprising due to the fact that ribosomal protein genes evolve slowly and transcript levels are very tightly regulated. In our present study, we identified and characterized all RP duplicates in eight mammalian genomes in order to investigate the tempo and mode of ribosomal protein family evolution. We show that a sizable number of duplicates are transcriptionally active and are very highly conserved. Furthermore, we conclude that existing gene duplication models do not readily account for the preservation of a very large number of intact retroduplicated ribosomal protein (RT-RP) genes observed in mammalian genomes. We suggest that selection against dominant-negative mutations may underlie the unexpected retention and conservation of duplicated RP genes, and may shape the fate of newly duplicated genes, regardless of duplication mechanism. PMID:25369106

  6. Globus pallidus internal segment.

    PubMed

    Nambu, Atsushi

    2007-01-01

    The internal segment of the globus pallidus (GP(i)) gathers many bits of information including movement-related activity from the striatum, external segment of the globus pallidus (GP(e)), and subthalamic nucleus (STN), and integrates them. The GP(i) receives rich GABAergic inputs from the striatum and GP(e), and gamma-aminobutyric acid (GABA) receptors are distributed in the GP(i) in a specific manner. Thus, inputs from the striatum and GP(e) may control GP(i) activity in a different way. The GP(i) finally conveys processed information outside the basal ganglia. Changes in GABAergic neurotransmission have been reported in movement disorders and suggested to play an important role in the pathophysiology of the symptoms. PMID:17499112

  7. Segmented vortex flaps

    NASA Technical Reports Server (NTRS)

    Rao, D. M.

    1983-01-01

    Segmented vortex flaps were suggested as a means of delaying the vortex spill-over causing thrust loss over the outboard region of single-panel flaps. Also proposed was hinge-line setback for exploiting leading-edge suction in conjunction with vortex flaps to improve the overall thrust per unit flap area. These two concepts in combination were tested on a 60-deg cropped delta wing model. Significant improvement in flap efficiency was indicated by a reduction of the flap/wing area from 11.4% of single-panel flap to 6.3% of a two segment delta flap design, with no lift/drag penalty at lift coefficients between 0.5 and 0.7. The more efficient vortex flap arrangement of this study should benefit the performance attainable with flaps of given area on wings of moderate leading-edge sweep.

  8. Segmented Thermal Barrier Coating

    NASA Technical Reports Server (NTRS)

    Smialek, James L. (Inventor)

    2001-01-01

    The article has a macro-segmented thermal barrier coating due to the presence of a pattern of three-dimensional features. The features may be a series of raised ribs formed on the substrate surface and being spaced from 0.05 inches to 0.30 apart. The ribs have a width ranging from 0.005 inches to 0.02 inches, and a height ranging from 25% to 100% of the thickness of the barrier coating. Alternately, the features may be a similar pattern of grooves formed in the surface of the substrate. Other embodiments provide segmentation by grooves or ribs in the bond coat or alternately grooves formed in the thermal barrier layer.

  9. Software Design Analyzer System

    NASA Technical Reports Server (NTRS)

    Tausworthe, R. C.

    1985-01-01

    CRISP80 software design analyzer system a set of programs that supports top-down, hierarchic, modular structured design, and programing methodologies. CRISP80 allows for expression of design as picture of program.

  10. Automatic amino acid analyzer

    NASA Technical Reports Server (NTRS)

    Berdahl, B. J.; Carle, G. C.; Oyama, V. I.

    1971-01-01

    Analyzer operates unattended or up to 15 hours. It has an automatic sample injection system and can be programmed. All fluid-flow valve switching is accomplished pneumatically from miniature three-way solenoid pilot valves.

  11. Generating and Analyzing Data.

    ERIC Educational Resources Information Center

    Stevens, Jill

    1993-01-01

    Presents activities in which students develop and analyze scatterplots on graphing calculators to model corn growth, decay, a box of maximum volume, and weather prediction. Provides reproducible worksheets. (MDH)

  12. Identifying duplicate crystal structures: XTALCOMP, an open-source solution

    NASA Astrophysics Data System (ADS)

    Lonie, David C.; Zurek, Eva

    2012-03-01

    We describe the implementation of XTALCOMP, an efficient, reliable, and open-source library that tests if two crystal descriptions describe the same underlying structure. The algorithm has been tested and found to correctly identify duplicate structures in spite of the "real-world" difficulties that arise from working with numeric crystal representations: degenerate unit cell lattices, numerical noise, periodic boundaries, and the lack of a canonical coordinate origin. The library is portable, open, and not dependent on any external packages. A web interface to the algorithm is publicly accessible at http://xtalopt.openmolecules.net/xtalcomp/xtalcomp.html. Program summaryProgram title: XtalComp Catalogue identifier: AEKV_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEKV_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: "New" (3-clause) BSD [1] No. of lines in distributed program, including test data, etc.: 3148 No. of bytes in distributed program, including test data, etc.: 21 860 Distribution format: tar.gz Programming language: C++ Computer: No restrictions Operating system: All operating systems with a compliant C++ compiler. Classification: 7.8 Nature of problem: Computationally identifying duplicate crystal structures taken from the output of modern solid state calculations is a non-trivial exercise for many reasons. The translation vectors in the description are not unique — they may be transformed into linear combinations of themselves and continue to describe the same extended structure. The coordinates and cell parameters contain numerical noise. The periodic boundary conditions at the unit cell faces, edges, and corners can cause very small displacements of atomic coordinates to result in very different representations. The positions of all atoms may be uniformly translated by an arbitrary vector without modifying the underlying structure. Additionally, certain

  13. Soil Rock Analyzer

    NASA Technical Reports Server (NTRS)

    1985-01-01

    A redesigned version of a soil/rock analyzer developed by Martin Marietta under a Langley Research Center contract is being marketed by Aurora Tech, Inc. Known as the Aurora ATX-100, it has self-contained power, an oscilloscope, a liquid crystal readout, and a multichannel spectrum analyzer. It measures energy emissions to determine what elements in what percentages a sample contains. It is lightweight and may be used for mineral exploration, pollution monitoring, etc.

  14. Example based lesion segmentation

    NASA Astrophysics Data System (ADS)

    Roy, Snehashis; He, Qing; Carass, Aaron; Jog, Amod; Cuzzocreo, Jennifer L.; Reich, Daniel S.; Prince, Jerry; Pham, Dzung

    2014-03-01

    Automatic and accurate detection of white matter lesions is a significant step toward understanding the progression of many diseases, like Alzheimer's disease or multiple sclerosis. Multi-modal MR images are often used to segment T2 white matter lesions that can represent regions of demyelination or ischemia. Some automated lesion segmentation methods describe the lesion intensities using generative models, and then classify the lesions with some combination of heuristics and cost minimization. In contrast, we propose a patch-based method, in which lesions are found using examples from an atlas containing multi-modal MR images and corresponding manual delineations of lesions. Patches from subject MR images are matched to patches from the atlas and lesion memberships are found based on patch similarity weights. We experiment on 43 subjects with MS, whose scans show various levels of lesion-load. We demonstrate significant improvement in Dice coefficient and total lesion volume compared to a state of the art model-based lesion segmentation method, indicating more accurate delineation of lesions.

  15. 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

  16. 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

  17. Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus

    PubMed Central

    Perez-Nanclares, Gustavo; Velayos, Teresa; Vela, Amaya; Muñoz-Torres, Manuel; Castaño, Luis

    2015-01-01

    Context Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS locus. PHP-Ib can be either sporadic or inherited in an autosomal dominant pattern. Whereas familial PHP-Ib is well characterized at the molecular level, the genetic cause of sporadic PHP-Ib cases remains elusive, although some molecular mechanisms have been associated with this subtype. Objective The aim of the study was to investigate the molecular and imprinting defects in the GNAS locus in two unrelated patients with PHP-Ib. Design We have analyzed the GNAS locus by direct sequencing, Methylation-Specific Multiplex Ligation-dependent Probe Amplification, microsatellites, Quantitative Multiplex PCR of Short Fluorescent fragments and array-Comparative Genomic Hybridization studies in order to characterize two unrelated families with clinical features of PHP-Ib. Results We identified two duplications in the GNAS region in two patients with PHP-Ib: one of them, comprising ∼320 kb, occurred ‘de novo’ in the patient, whereas the other one, of ∼179 kb in length, was inherited from the maternal allele. In both cases, no other known genetic cause was observed. Conclusion In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both are associated to PHP-Ib, one of them occurring ‘de novo’ and the other one being maternally inherited. PMID:25710380

  18. Segmenting the Adult Education Market.

    ERIC Educational Resources Information Center

    Aurand, Tim

    1994-01-01

    Describes market segmentation and how the principles of segmentation can be applied to the adult education market. Indicates that applying segmentation techniques to adult education programs results in programs that are educationally and financially satisfying and serve an appropriate population. (JOW)

  19. Market Segmentation for Information Services.

    ERIC Educational Resources Information Center

    Halperin, Michael

    1981-01-01

    Discusses the advantages and limitations of market segmentation as strategy for the marketing of information services made available by nonprofit organizations, particularly libraries. Market segmentation is defined, a market grid for libraries is described, and the segmentation of information services is outlined. A 16-item reference list is…

  20. Functional Segments in Tongue Movement

    ERIC Educational Resources Information Center

    Stone, Maureen; Epstein, Melissa A.; Iskarous, Khalil

    2004-01-01

    The tongue is a deformable object, and moves by compressing or expanding local functional segments. For any single phoneme, these functional tongue segments may move in similar or opposite directions, and may reach target maximum synchronously or not. This paper will discuss the independence of five proposed segments in the production of speech.…