Relevant bibliographies by topics / Inverted duplication

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Inverted duplication'

Author: Grafiati
Published: 4 June 2021
Last updated: 8 February 2022

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Journal articles on the topic "Inverted duplication"

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Chen, Zhi, Yao He, Zheng-Yan Tang, Wei He, and Xiang Chen. "Laparoscopic Ureteroureterostomy with the Intraoperative Retrograde Ureteroscopy-Assisted Technique for Inverted-Y Ureteral Duplication with a Blind-Ending Branch." Urologia Internationalis 94, no. 2 (2015): 163–65. http://dx.doi.org/10.1159/000369908.

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Inverted-Y ureteral duplications are an extremely rare variant of congenital ureteral malformation with few cases reported in the literature. We describe here a case of inverted-Y ureteral duplication with a blind-ending branch, which was managed by laparoscopic ureteroureterostomy with the intraoperative retrograde ureteroscopy-assisted technique. This is the first report that reveals that inverted-Y ureteral duplication was managed by ureteroureterostomy in a laparoscopic approach.
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Schaefer, G. Bradley, Kelli Novak, David Steele, et al. "Familial inverted duplication 7p." American Journal of Medical Genetics 56, no. 2 (1995): 184–87. http://dx.doi.org/10.1002/ajmg.1320560214.

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Riley, Jacquelyn D., Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, and Caroline Astbury. "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features." Case Reports in Genetics 2019 (July 25, 2019): 1–7. http://dx.doi.org/10.1155/2019/5384295.

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Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient’s features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.
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Irelan, J. T., A. T. Hagemann, and E. U. Selker. "High frequency repeat-induced point mutation (RIP) is not associated with efficient recombination in Neurospora." Genetics 138, no. 4 (1994): 1093–103. http://dx.doi.org/10.1093/genetics/138.4.1093.

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Abstract Duplicated DNA sequences in Neurospora crassa are efficiently detected and mutated during the sexual cycle by a process named repeat-induced point mutation (RIP). Linked, direct duplications have previously been shown to undergo both RIP and deletion at high frequency during premeiosis, suggesting a relationship between RIP and homologous recombination. We have investigated the relationship between RIP and recombination for an unlinked duplication and for both inverted and direct, linked duplications. RIP occurred at high frequency (42-100%) with all three types of duplications used in this study, yet recombination was infrequent. For both inverted and direct, linked duplications, recombination was observed, but at frequencies one to two orders of magnitude lower than RIP. For the unlinked duplication, no recombinants were seen in 900 progeny, indicating, at most, a recombination frequency nearly three orders of magnitude lower than the frequency of RIP. In a direct duplication, RIP and recombination were correlated, suggesting that these two processes are mechanistically associated or that one process provokes the other. Mutations due to RIP have previously been shown to occur outside the boundary of a linked, direct duplication, indicating that RIP might be able to inactivate genes located in single-copy sequences adjacent to a duplicated sequence. In this study, a single-copy gene located between elements of linked duplications was inactivated at moderate frequencies (12-14%). Sequence analysis demonstrated that RIP mutations had spread into these single-copy sequences at least 930 base pairs from the boundary of the duplication, and Southern analysis indicated that mutations had occurred at least 4 kilobases from the duplication boundary.
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Katju, Vaishali, and Michael Lynch. "The Structure and Early Evolution of Recently Arisen Gene Duplicates in theCaenorhabditis elegansGenome." Genetics 165, no. 4 (2003): 1793–803. http://dx.doi.org/10.1093/genetics/165.4.1793.

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AbstractThe significance of gene duplication in provisioning raw materials for the evolution of genomic diversity is widely recognized, but the early evolutionary dynamics of duplicate genes remain obscure. To elucidate the structural characteristics of newly arisen gene duplicates at infancy and their subsequent evolutionary properties, we analyzed gene pairs with ≤10% divergence at synonymous sites within the genome of Caenorhabditis elegans. Structural heterogeneity between duplicate copies is present very early in their evolutionary history and is maintained over longer evolutionary timescales, suggesting that duplications across gene boundaries in conjunction with shuffling events have at least as much potential to contribute to long-term evolution as do fully redundant (complete) duplicates. The median duplication span of 1.4 kb falls short of the average gene length in C. elegans (2.5 kb), suggesting that partial gene duplications are frequent. Most gene duplicates reside close to the parent copy at inception, often as tandem inverted loci, and appear to disperse in the genome as they age, as a result of reduced survivorship of duplicates located in proximity to the ancestral copy. We propose that illegitimate recombination events leading to inverted duplications play a disproportionately large role in gene duplication within this genome in comparison with other mechanisms.
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Dill, F. J., M. Schertzer, J. Sandercock, B. Tischler, and S. Wood. "Inverted tandem duplication generates a duplication deficiency of chromosome 8p." Clinical Genetics 32, no. 2 (2008): 109–13. http://dx.doi.org/10.1111/j.1399-0004.1987.tb03335.x.

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Mosli, H. A., J. F. Schillinger, and N. Futter. "Inverted y Duplication of the Ureter." Journal of Urology 135, no. 1 (1986): 126–27. http://dx.doi.org/10.1016/s0022-5347(17)45541-8.

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Bonaglia, Maria Clara, Roberto Giorda, Angelo Massagli, Rita Galluzzi, Roberto Ciccone, and Orsetta Zuffardi. "A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications." European Journal of Human Genetics 17, no. 2 (2008): 179–86. http://dx.doi.org/10.1038/ejhg.2008.160.

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Wyandt, Herman E. "Reported tandem duplication/deletion of 9q is actually an inverted duplication." American Journal of Medical Genetics 100, no. 1 (2001): 82–83. http://dx.doi.org/10.1002/ajmg.1172.

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Trinh, T. Q., and R. R. Sinden. "The influence of primary and secondary DNA structure in deletion and duplication between direct repeats in Escherichia coli." Genetics 134, no. 2 (1993): 409–22. http://dx.doi.org/10.1093/genetics/134.2.409.

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Abstract We describe a system to measure the frequency of both deletions and duplications between direct repeats. Short 17- and 18-bp palindromic and nonpalindromic DNA sequences were cloned into the EcoRI site within the chloramphenicol acetyltransferase gene of plasmids pBR325 and pJT7. This creates an insert between direct repeated EcoRI sites and results in a chloramphenicol-sensitive phenotype. Selection for chloramphenicol resistance was utilized to select chloramphenicol resistant revertants that included those with precise deletion of the insert from plasmid pBR325 and duplication of the insert in plasmid pJT7. The frequency of deletion or duplication varied more than 500-fold depending on the sequence of the short sequence inserted into the EcoRI site. For the nonpalindromic inserts, multiple internal direct repeats and the length of the direct repeats appear to influence the frequency of deletion. Certain palindromic DNA sequences with the potential to form DNA hairpin structures that might stabilize the misalignment of direct repeats had a high frequency of deletion. Other DNA sequences with the potential to form structures that might destabilize misalignment of direct repeats had a very low frequency of deletion. Duplication mutations occurred at the highest frequency when the DNA between the direct repeats contained no direct or inverted repeats. The presence of inverted repeats dramatically reduced the frequency of duplications. The results support the slippage-misalignment model, suggesting that misalignment occurring during DNA replication leads to deletion and duplication mutations. The results also support the idea that the formation of DNA secondary structures during DNA replication can facilitate and direct specific mutagenic events.
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Dissertations / Theses on the topic "Inverted duplication"

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Lajoie, Mathieu. "Approches algorithmiques pour l’inférence d’histoires de duplication en tandem avec inversions et délétions pour des familles multigéniques." Thèse, 2009. http://hdl.handle.net/1866/3921.

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[Français] Une fraction importante des génomes eucaryotes est constituée de Gènes Répétés en Tandem (GRT). Un mécanisme fondamental dans l’évolution des GRT est la recombinaison inégale durant la méiose, entrainant la duplication locale (en tandem) de segments chromosomiques contenant un ou plusieurs gènes adjacents. Différents algorithmes ont été proposés pour inférer une histoire de duplication en tandem pour un cluster de GRT. Cependant, leur utilisation est limitée dans la pratique, car ils ne tiennent pas compte d’autres événements évolutifs pourtant fréquents, comme les inversions, les duplications inversées et les délétions. Cette thèse propose différentes approches algorithmiques permettant d’intégrer ces événements dans le modèle de duplication en tandem classique. Nos contributions sont les suivantes: • Intégrer les inversions dans un modèle de duplication en tandem simple (duplication d’un gène à la fois) et proposer un algorithme exact permettant de calculer le nombre minimal d’inversions s’étant produites dans l’évolution d’un cluster de GRT. • Généraliser ce modèle pour l’étude d’un ensemble de clusters orthologues dans plusieurs espèces. • Proposer un algorithme permettant d’inférer l’histoire évolutive d’un cluster de GRT en tenant compte des duplications en tandem, duplications inversées, inversions et délétions de segments chromosomiques contenant un ou plusieurs gènes adjacents.<br>[English] Tandemly arrayed genes (TAGs) represent an important fraction of most genomes. A fundamental mechanism at the origin of TAG clusters is unequal crossing-over during meiosis, leading to the duplication of chromosomal segments containing one or many adjacent genes. Such duplications are called tandem duplications, as the duplicated segment is placed next to the original one on the chromosome. Different algorithms have been proposed to infer the tandem duplication history of a TAG cluster. However, their applicability is limited in practice since they do not take into account other frequent evolutionary events such as inversion, inverted duplication and deletion. In this thesis, we propose different algorithmic approaches allowing to integrate these evolutionary events in the original tandem duplication model of evolution. Our contributions are summarized as follows: • We integrate inversion events in a tandem duplication model restricted to single gene duplications, and we propose an exact algorithm allowing to compute the minimum number of inversions explaining the evolution of a TAG cluster. • We generalize this model to the study of orthologous TAG clusters in different species. • We propose an algorithm allowing to infer the evolutionary history of a TAG cluster through tandem duplication, inverted duplication, inversion and deletion of chromosomal segments containing one or many adjacent genes.
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Kong, Sin-Guan, and 康星源. "Inverse symmetry in genomes and whole-genome inverse duplication." Thesis, 2008. http://ndltd.ncl.edu.tw/handle/38463631230479300300.

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博士<br>國立中央大學<br>物理研究所<br>96<br>Segmental duplication has long been known to be an important mechanism for genome growth and evolution [40,57], and recently it has been firmly established that whole-genome duplications have at least occurred in yeast [50] and in some species of fishes ray-finned fishes [53-54]. Here we present evidence showing that whole-genome inverse duplication very likely occurred in one half of eubacterial genomes, and possibly in most chromosomes, prokaryotic as well as eukaryotic. We derive our evidence through a comprehensive study of the inverse symmetry in all publicly available complete genomes. We find that a vast majority of chromosomes have close to maximum global inverse symmetry, but the chromosomes exhibit starkly distinct patterns of local inverse symmetry. These patterns provide clues for a consistent narrative of the many ways inverse segmental duplications may have occurred in genomes.
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Book chapters on the topic "Inverted duplication"

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "8p Inverted Duplication." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8983.

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Steinborn, G. S. "Stable Gene Duplication by “Puzzle” Shot Gun Cloning in Inverted Repeats of a Streptococcal Plasmid." In Metabolism and Enzymology of Nucleic Acids. Springer US, 1988. http://dx.doi.org/10.1007/978-1-4613-0749-5_26.

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Fried, Mike, Salvatore Feo, and Edith Heard. "Involvement of Inverted Duplications in the Generation of Gene Amplification in Mammalian Cells." In Gene Amplification in Mammalian Cells. CRC Press, 2020. http://dx.doi.org/10.1201/9781003066989-41.

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