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Journal articles on the topic 'Inverted duplication'

Author: Grafiati

Published: 4 June 2021

Last updated: 8 February 2022

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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Haslam, J. S., and A. M. Norman. "De novo inverted duplication of chromosome 7q." Journal of Medical Genetics 29, no. 11 (1992): 837–38. http://dx.doi.org/10.1136/jmg.29.11.837.

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12

Ghosal, Debabrota, and In-Soon You. "Gene duplication in haloaromatic degradative plasmids pJP4 and pJP2." Canadian Journal of Microbiology 34, no. 6 (1988): 709–15. http://dx.doi.org/10.1139/m88-121.

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pJP2 and pJP4 are 2,4-dichlorophenoxyacetic acid catabolic plasmids, and they show DNA sequence homology. Most of the pJP2 molecules (80% or more) isolated from 2,4-dichlorophenoxyacetic acid grown cells of Alcaligenes eutrophus harbor a tandem duplication of a 25-kilobase (kb) segment encoding the catabolic functions. Unlike plasmid pJP4, pJP2 in A. eutrophus gives rise to a 3-chlorobenzoate phenotype without further genetic rearrangement. pJP4 under 3-chlorobenzoate selection contains an inverted duplication of 24.5 kb. Absence of selective pressure results in the prompt loss of one copy of the duplication in pJP4, but not of the tandem duplication in pJP2. In both pJP4 and pJP2, mutation of the duplicated copy, rather than gene dosage, is likely to be the basis of phenotypic change of catabolic functions. Experiments using the cloned DNA suggest that a tandem duplication is more stable than an inverted duplication.

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13

Hajji, F., N. Hammoune, M. Miloudi, and S. Belasri. "Unusual variant of inverted Y ureteral duplication with an ipsilateral seminal vesicle cyst and renal dysgenesis." Annals of The Royal College of Surgeons of England 99, no. 1 (2017): e19-e21. http://dx.doi.org/10.1308/rcsann.2016.0281.

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Inverted Y malformation is a rare variant of ureteral duplication with a marked female predominance. We describe a case of inverted Y ureteral duplication with concurrent ectopic ureteral insertion into a seminal vesicle cyst, a ureterocoele and renal dysgenesis, which occurred in a 29-year-old man with lower urinary tract symptoms, haematospermia and postcoital discomfort. To our knowledge, this is the first reported case with this constellation of urogenital abnormalities.

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14

Solovova, O. A., N. V. Oparina, Yu Yu Kotalevskaya, S. G. Kalinenkova, and A. Sh Latypov. "A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5." Almanac of Clinical Medicine 48, no. 4 (2020): 271–79. http://dx.doi.org/10.18786/2072-0505-2020-48-025.

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The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short arm of chromosome 5. The syndrome was first described by A. Kleczkowska et al. in 1987. According to the literature, large duplications of the chromosome 5 short arm are associated with pronounced phenotypic manifestations, delayed speech and mental development, as well as congenital cardiac, brain and musculoskeletal malformations. We present a description of a clinical case of extended inverted duplication with deletion of the chromosome 5 short arm in a girl with a mild phenotype and no visceral or musculoskeletal abnormalities; we also discuss the pathogenetic mechanisms of chromosomal rearrangement, and conduct a comparative analysis of phenotypic manifestations based on the available literature. Comprehensive molecular cytogenetic assessments have demonstrated that the duplicated site has a length of 29 Mb (5p13.3p15.33), and the deleted site of the subtelomeric region distal to 5p15.33 has a length of 110 kb.

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15

Schmidt, T., I. Bartels, T. Liehr, P. Burfeind, B. Zoll, and M. Shoukier. "A Family with an Inverted Tandem Duplication 5q22.1q23.2." Cytogenetic and Genome Research 139, no. 1 (2013): 65–70. http://dx.doi.org/10.1159/000342914.

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16

Enzenauer, Robert W., and Kent A. Reinker. "Inverted Duplication of Chromosome 15: INV DUP (15)." Military Medicine 151, no. 8 (1986): 440–41. http://dx.doi.org/10.1093/milmed/151.8.440.

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17

HOO, J. J. "High resolution pattern of an inverted duplication (15)." Clinical Genetics 29, no. 3 (2008): 241–45. http://dx.doi.org/10.1111/j.1399-0004.1986.tb00818.x.

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18

Bradley, Desmond, Ping Xu, Irina-Ioana Mohorianu, et al. "Evolution of flower color pattern through selection on regulatory small RNAs." Science 358, no. 6365 (2017): 925–28. http://dx.doi.org/10.1126/science.aao3526.

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Small RNAs (sRNAs) regulate genes in plants and animals. Here, we show that population-wide differences in color patterns in snapdragon flowers are caused by an inverted duplication that generates sRNAs. The complexity and size of the transcripts indicate that the duplication represents an intermediate on the pathway to microRNA evolution. The sRNAs repress a pigment biosynthesis gene, creating a yellow highlight at the site of pollinator entry. The inverted duplication exhibits steep clines in allele frequency in a natural hybrid zone, showing that the allele is under selection. Thus, regulatory interactions of evolutionarily recent sRNAs can be acted upon by selection and contribute to the evolution of phenotypic diversity.

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19

Lin, C. T. "Inverted repeats as genetic elements for promoting DNA inverted duplication: implications in gene amplification." Nucleic Acids Research 29, no. 17 (2001): 3529–38. http://dx.doi.org/10.1093/nar/29.17.3529.

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20

Marlet, Lyvia, Eudeline Alix, Marianne Till, et al. "Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences." Cytogenetic and Genome Research 153, no. 3 (2017): 117–24. http://dx.doi.org/10.1159/000485392.

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We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only 4 further cases of pure partial trisomy 2p reported prenatally. Here, the mother was referred at 22 weeks of gestation for isolated fetal congenital heart malformation at ultrasound. The karyotype of amniotic fluid cells displayed a large duplication of the short arm of chromosome 2 that was further investigated by array-CGH, which detected a 1-copy gain of 43.75 Mb in chromosome 2 at 2p21p25.3. FISH confirmed the presence of an inverted duplication in the short arm of chromosome 2 involving the region 2p21pter and revealed the presence of ITSs at the breakpoint in chromosome 2p21. This report contributes to the prenatal description of the syndrome. We also discuss the possible mechanisms leading to this duplication and the formation of ITSs which are rarely described in constitutional rearrangements.

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21

Filipek, Pauline A., Jenifer Juranek, Moyra Smith, et al. "Mitochondrial dysfunction in autistic patients with 15q inverted duplication." Annals of Neurology 53, no. 6 (2003): 801–4. http://dx.doi.org/10.1002/ana.10596.

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22

Yenamandra, A., R. Perrone, J. McLaughlin, and L. Mehta. "Inverted duplication/deletion of chromosome 8p: mild clinical phenotype." American Journal of Medical Genetics 82, no. 1 (1999): 91–93. http://dx.doi.org/10.1002/(sici)1096-8628(19990101)82:1<91::aid-ajmg19>3.0.co;2-e.

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23

Sanlaville, D., C. Baumann, J. M. Lapierre, et al. "De novo inverted duplication 9p21pter involving telomeric repeated sequences." American Journal of Medical Genetics 83, no. 2 (1999): 125–31. http://dx.doi.org/10.1002/(sici)1096-8628(19990312)83:2<125::aid-ajmg8>3.0.co;2-0.

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24

Voullaire, Lucille, Richard Saffery, Julie Davies, et al. "Trisomy 20p resulting from inverted duplication and neocentromere formation." American Journal of Medical Genetics 85, no. 4 (1999): 403–8. http://dx.doi.org/10.1002/(sici)1096-8628(19990806)85:4<403::aid-ajmg18>3.0.co;2-r.

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25

Hoo, Joe J., Anne Robertson, S. Bea Fowlow, et al. "Inverted duplication of 22pter → q11.21 in cat-eye syndrome." American Journal of Medical Genetics 24, no. 3 (1986): 543–45. http://dx.doi.org/10.1002/ajmg.1320240320.

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26

Partridge, Sally R., and Ruth M. Hall. "The IS1111 Family Members IS4321 and IS5075 Have Subterminal Inverted Repeats and Target the Terminal Inverted Repeats of Tn21 Family Transposons." Journal of Bacteriology 185, no. 21 (2003): 6371–84. http://dx.doi.org/10.1128/jb.185.21.6371-6384.2003.

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ABSTRACT IS5075 and IS4321 are closely related (93.1% identical) members of the IS1111 family that target a specific position in the 38-bp terminal inverted repeats of Tn21 family transposons and that are inserted in only one orientation. They are 1,327 bp long and have identical ends consisting of short inverted repeats of 12 bp with an additional 7 bp (TAATGAG) or 6 bp (AATGAG) to the left of the left inverted repeats and 3 bp (AGA) or 4 bp (AGAT) to the right of the right inverted repeat. Circular forms of IS5075 and IS4321 in which the inverted repeats are separated by abutting terminal sequences (AGATAATGAG) were detected. A similar circular product was found for the related ISPa11. Transposition of IS4321 into the 38-bp target site was detected, but a flanking duplication was not generated. The precisely reconstituted target site was also identified. Over 50 members of the IS1111 family were identified. They encode related transposases, have related inverted repeats, and include related bases that lie outside these inverted repeats. In some, the flanking bases number 5 or 6 on the left and 4 or 3 on the right. Specific target sites were found for several of these insertion sequence (IS) elements. IS1111 family members therefore differ from the majority of IS elements, which are characterized by terminal inverted repeats and a target site duplication, and from members of the related IS110 family, which do not have obvious inverted repeats near their termini.

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27

Silipigni, Rosamaria, Edoardo Monfrini, Marco Baccarin, et al. "Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1." Cytogenetic and Genome Research 153, no. 2 (2017): 73–80. http://dx.doi.org/10.1159/000485226.

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Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Moreover, few cases of both inter- and intrachromosomal deletions/duplications detected cytogenetically have been described. We report the molecular cytogenetic characterization of an inverted insertion involving the region 1q42.13q43 and segregating in 2 generations of a family. The deletion and the duplication of the same segment were detected in 2 affected family members. SNP array analysis showed the familial origin of the deletion/duplication due to the occurrence of a crossing-over during meiosis. Our report underlines the importance of determining the correct origin of chromosomal aberrations using different molecular cytogenetic tests in order to provide a good estimation of the reproductive risk for the members of the family.

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28

Shimizu, Toshiaki, Tatsuro Ikeuchi, Tamiko Shinohara, et al. "Distal trisomy of chromosome 17q due to inverted tandem duplication." Clinical Genetics 33, no. 4 (2008): 311–14. http://dx.doi.org/10.1111/j.1399-0004.1988.tb03454.x.

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29

Zenhger-Hain, Julie L., Daniel L. van Dyke, Anne Wiktor, Hugh Walker, and Gerald L. Feldman. "Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization." American Journal of Medical Genetics 47, no. 8 (1993): 1198–201. http://dx.doi.org/10.1002/ajmg.1320470814.

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30

Buysse, Karen, Francesca Antonacci, Bert Callewaert, et al. "Unusual 8p inverted duplication deletion with telomere capture from 8q." European Journal of Medical Genetics 52, no. 1 (2009): 31–36. http://dx.doi.org/10.1016/j.ejmg.2008.10.007.

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31

Kajii, Tadashi, Shinya Matsuura, Ichiro Murano, and Akira Kuwano. "Inverted insertion (9)(q34.3q22.3q21.2) and its recombination product: Duplication 9q21.2q22.3." Japanese journal of human genetics 32, no. 1 (1987): 45–48. http://dx.doi.org/10.1007/bf01876527.

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32

Shimojima, Keiko, Toshiyuki Mano, Mitsuru Kashiwagi, et al. "Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region." European Journal of Medical Genetics 55, no. 6-7 (2012): 400–403. http://dx.doi.org/10.1016/j.ejmg.2012.02.013.

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33

Suzuki, Hiroyoshi, Shigeyuki Yanagi, Tokujuro Namiki, and Manabu Takano. "A CASE OF INVERTED Y URETERAL DUPLICATION WITH AN ECTOPIC URETEROCELE." Japanese Journal of Urology 83, no. 10 (1992): 1713–16. http://dx.doi.org/10.5980/jpnjurol1989.83.1713.

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34

Takeda, Youji, Atsushi Baba, Fumihiro Nakamura, Masumi Ito, Hiroshi Honma, and Tsukasa Koyama. "Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15." Seizure 9, no. 2 (2000): 145–50. http://dx.doi.org/10.1053/seiz.1999.0367.

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35

Akkurt, Mehmet Ozgur, Amanda Higgs, Ozerk T. Turan, Ozhan M. Turan, and Sifa Turan. "Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18." American Journal of Medical Genetics Part A 173, no. 3 (2017): 776–79. http://dx.doi.org/10.1002/ajmg.a.38074.

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36

Reddy, Kavita S., Vladimira Sulcova, Stuart Schwartz, et al. "Mosaic tetrasomy 8q: Inverted duplication of 8q23.3qter in an analphoid marker." American Journal of Medical Genetics 92, no. 1 (2000): 69–76. http://dx.doi.org/10.1002/(sici)1096-8628(20000501)92:1<69::aid-ajmg12>3.0.co;2-o.

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37

Wills, J. W., W. B. Troutman, and W. S. Riggsby. "Circular mitochondrial genome of Candida albicans contains a large inverted duplication." Journal of Bacteriology 164, no. 1 (1985): 7–13. http://dx.doi.org/10.1128/jb.164.1.7-13.1985.

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38

Slotkin, R. Keith, Michael Freeling, and Damon Lisch. "Heritable transposon silencing initiated by a naturally occurring transposon inverted duplication." Nature Genetics 37, no. 6 (2005): 641–44. http://dx.doi.org/10.1038/ng1576.

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39

Elçioglu, Nursel, Claudine Fear, and A. Caroline Berry. "Case Report: Partial trisomy of 15q due to inserted inverted duplication." Clinical Genetics 52, no. 6 (2008): 442–45. http://dx.doi.org/10.1111/j.1399-0004.1997.tb02566.x.

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40

Blomqvist, Maria, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland та Jorge Asin-Cayuela. "β-Mannosidosis caused by a novel homozygous intragenic inverted duplication inMANBA". Molecular Case Studies 5, № 3 (2019): a003954. http://dx.doi.org/10.1101/mcs.a003954.

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41

Fisch, Gene S., Ryan Davis, Janey Youngblom, and Jeff Gregg. "Genotype–Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion Syndrome." Behavior Genetics 41, no. 3 (2011): 373–80. http://dx.doi.org/10.1007/s10519-011-9447-4.

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42

Roy, Shuvendu, Gaurav Kumar, and Vivek Kumar. "An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome." Journal of Pediatric Genetics 07, no. 03 (2018): 125–29. http://dx.doi.org/10.1055/s-0038-1637730.

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AbstractWe report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report lies in the fact that the congenital heart defect occurred without the GATA4 gene involvement, and the nervous system involvement was more extensive.

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43

Hodgkin, J., and D. G. Albertson. "Isolation of dominant XO-feminizing mutations in Caenorhabditis elegans: new regulatory tra alleles and an X chromosome duplication with implications for primary sex determination." Genetics 141, no. 2 (1995): 527–42. http://dx.doi.org/10.1093/genetics/141.2.527.

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Abstract A strain of Caenorhabditis elegans was constructed that permits selection of dominant or sex-linked mutations that transform XO animals (normally male) into fertile females, using a feminizing mutation, tra-2(e2046gf), which by itself does not sexually transform XO males. Twenty-three mutations were isolated after chemical mutagenesis and found to fall into both expected classes (four dominant tra-1 mutations and eight recessive xol-1 mutations) and novel classes. The novel mutations include 10 second-site mutations of tra-2, which are called eg mutations, for enhanced gain-of-function. The tra-2(gf, eg) alleles lead to complete dominant transformation of XO animals from fertile male into fertile female. Also isolated was a duplication of the left end of the X chromosome, eDp26, which has dominant XO lethal and feminizing properties, unlike all previously isolated duplications of the X chromosome. The properties of eDp26 indicate that it carries copies of one or more numerator elements, which act as part of the primary sex-determination signal, the X:A ratio. The eDp26 duplication is attached to the left tip of the X chromosome in inverted orientation and consequently can be used to generate unstable attached-X chromosomes.

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44

Zhang, Jianbo, and Thomas Peterson. "Genome Rearrangements by Nonlinear Transposons in Maize." Genetics 153, no. 3 (1999): 1403–10. http://dx.doi.org/10.1093/genetics/153.3.1403.

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Abstract Transposable elements have long been considered as potential agents of large-scale genome reorganization by virtue of their ability to induce chromosomal rearrangements such as deletions, duplications, inversions, and reciprocal translocations. Previous researchers have shown that particular configurations of transposon termini can induce chromosome rearrangements at high frequencies. Here, we have analyzed chromosomal rearrangements derived from an unstable allele of the maize P1 (pericarp color) gene. The progenitor allele contains both a full-length Ac (Activator) transposable element and an Ac terminal fragment termed fAc (fractured Ac) inserted in the second intron of the P1-rr gene. Two rearranged alleles were derived from a classical maize ear twinned sector and were found to contain a large inverted duplication and a corresponding deficiency. The sequences at the junctions of the rearrangement breakpoints indicate that the duplication and deletion structures were produced by a single transposition event involving Ac and fAc termini located on sister chromatids. Because the transposition process we describe involves transposon ends located on different DNA molecules, it is termed nonlinear transposition (NLT). NLT can rapidly break and rejoin chromosomes and thus could have played an important role in generating structural heterogeneity during genome evolution.

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45

Souffrant, Dilsa, Jennifer Hagerty, Kaity Colon-Sanchez, Monica Epelman, and Pamela Ellsworth. "Intermittent Urinary Incontinence Secondary to Inverted-Y Ureteral Duplication With Perianal Ectopia." Urology 127 (May 2019): 124–26. http://dx.doi.org/10.1016/j.urology.2019.02.021.

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46

Shaw, J. A., W. B. Troutman, B. A. Lasker, M. M. Mason, and W. S. Riggsby. "Characterization of the inverted duplication in the mitochondrial DNA of Candida albicans." Journal of Bacteriology 171, no. 11 (1989): 6353–56. http://dx.doi.org/10.1128/jb.171.11.6353-6356.1989.

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47

Wang, Jia-Chi, Bradley P. Coe, Brenda Lomax, et al. "Inverted duplication with terminal deletion of 5p and no cat-like cry." American Journal of Medical Genetics Part A 146A, no. 9 (2008): 1173–79. http://dx.doi.org/10.1002/ajmg.a.32246.

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48

Feldman, Gerald L., Lester Weiss, Mary C. Phelan, Richard J. Schroer, and Daniel L. VanDyke. "Inverted duplication of 8p: Ten new patients and review of the literature." American Journal of Medical Genetics 47, no. 4 (1993): 482–86. http://dx.doi.org/10.1002/ajmg.1320470410.

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49

Williams, T. J., and M. Fried. "Inverted duplication-transposition event in mammalian cells at an illegitimate recombination join." Molecular and Cellular Biology 6, no. 6 (1986): 2179–84. http://dx.doi.org/10.1128/mcb.6.6.2179.

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Illegitimate recombination events in mammalian cells often contain extraneous nucleotides or filler DNA at the recombinant joins. The polyomavirus-transformed cell line 7axB has previously been found to contain 37 base pairs (bp) of filler DNA at one virus-host join of the single insert of integrated viral DNA (A. Hayday, H. E. Ruley, and M. Fried, J. Virol. 44:67-77, 1982). By using a synthetic oligomer of these 37 bp as a probe, we demonstrated that this filler DNA is an inverted duplication of a single-copy rat sequence found 650 bp upstream from this virus-host join. The other virus-host join appears to be the result of a simple illegitimate recombination event between viral and host sequences. This is the first identification of filler DNA as a transposed copy of a chromosomal sequence. The relevance of the recombination events studied to cellular rearrangements and viral integration is discussed.

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50

Wang, S.-W., A. J. Robins, R. d'Andrea, and J. R. E. Wells. "Inverted duplication of histone genes in chicken and disposition of regulatory sequences." Nucleic Acids Research 13, no. 4 (1985): 1369–87. http://dx.doi.org/10.1093/nar/13.4.1369.

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