chromosome inversion

Summary

Summary: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.

Top Publications

  1. Carlson D, Tan W, Lillico S, Stverakova D, Proudfoot C, Christian M, et al. Efficient TALEN-mediated gene knockout in livestock. Proc Natl Acad Sci U S A. 2012;109:17382-7 pubmed publisher
    ..TALENs thus appear to represent a highly facile platform for the modification of livestock genomes for both biomedical and agricultural applications...
  2. Lee J, Han K, Meyer T, Kim H, Batzer M. Chromosomal inversions between human and chimpanzee lineages caused by retrotransposons. PLoS ONE. 2008;3:e4047 pubmed publisher
    ..This study is the first comprehensive analysis of mobile element bases inversion breakpoints between human and chimpanzee lineages, and highlights their role in primate genome evolution...
  3. Kovalskaya Y, Aniskin V, Bogomolov P, Surov A, Tikhonov I, Tikhonova G, et al. Karyotype reorganisation in the subtilis group of birch mice (Rodentia, Dipodidae, Sicista): unexpected taxonomic diversity within a limited distribution. Cytogenet Genome Res. 2011;132:271-88 pubmed publisher
    ..It is thought that this occurred at the last glacial maximum (18,000-14,000 years B.P.), and that the process of isolation has been exacerbated by increasing human activity in the region in modern times...
  4. Torgasheva A, Borodin P. Synapsis and recombination in inversion heterozygotes. Biochem Soc Trans. 2010;38:1676-80 pubmed publisher
    ..Only bivalents without COs within the loop and those with COs in the middle of the inversion can be completely adjusted and became linear...
  5. Wolf P, Roper J, Duffy A. The evolution of chloroplast genome structure in ferns. Genome. 2010;53:731-8 pubmed publisher
    ..This is because the intron loss maps to an earlier point on the phylogeny than the nearby inversion. We speculate on why inversions may occur in pairs and what this may mean for the dynamics of plastome evolution...
  6. Sharakhova M, Antonio Nkondjio C, Xia A, Ndo C, Awono Ambene P, Simard F, et al. Cytogenetic map for Anopheles nili: application for population genetics and comparative physical mapping. Infect Genet Evol. 2011;11:746-54 pubmed publisher
    ..Availability of the new polytene chromosome map, polymorphic inversions, and physically mapped DNA markers for An. nili will further stimulate population genetic, taxonomic, and genomic studies of this neglected malaria vector...
  7. Corbett Detig R, Hartl D. Population genomics of inversion polymorphisms in Drosophila melanogaster. PLoS Genet. 2012;8:e1003056 pubmed publisher
  8. Pang A, Migita O, MacDonald J, Feuk L, Scherer S. Mechanisms of formation of structural variation in a fully sequenced human genome. Hum Mutat. 2013;34:345-54 pubmed publisher
    ..3 and 6q27) of potential reference assembly orientation errors were found. This study provides a thorough account of formation mechanisms for structural variants, and reveals a glimpse of the dynamic structure of inversions...
  9. Gruber T, Larson Gedman A, Zhang J, Koss C, Marada S, Ta H, et al. An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Cancer Cell. 2012;22:683-97 pubmed publisher
    ..These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis...

More Information

Publications62

  1. Skinningsrud B, Husebye E, Gilfillan G, Frengen E, Erichsen A, Gervin K, et al. X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene. J Clin Endocrinol Metab. 2009;94:4086-93 pubmed publisher
  2. Sindi S, Onal S, Peng L, Wu H, Raphael B. An integrative probabilistic model for identification of structural variation in sequencing data. Genome Biol. 2012;13:R22 pubmed publisher
    ..GASVPro outperforms existing methods with a 50-90% improvement in specificity on deletions and a 50% improvement on inversions...
  3. McGaugh S, Noor M. Genomic impacts of chromosomal inversions in parapatric Drosophila species. Philos Trans R Soc Lond B Biol Sci. 2012;367:422-9 pubmed publisher
    ..We also hypothesize that the inversions in D. persimilis may provide an empirical example of the 'mixed geographical mode' theory of inversion origin and fixation, whereby allopatry and secondary contact both play a role...
  4. Kamali M, Sharakhova M, Baricheva E, Karagodin D, Tu Z, Sharakhov I. An integrated chromosome map of microsatellite markers and inversion breakpoints for an Asian malaria mosquito, Anopheles stephensi. J Hered. 2011;102:719-26 pubmed publisher
    ..This study demonstrates that the chromosomal position of microsatellites may affect estimates of population genetic parameters and highlights the importance of developing physical maps for nonmodel organisms...
  5. Braun E, Kimball R, Han K, Iuhasz Velez N, Bonilla A, Chojnowski J, et al. Homoplastic microinversions and the avian tree of life. BMC Evol Biol. 2011;11:141 pubmed publisher
    ..However, few detailed surveys of these genomic rearrangements have been conducted, making it difficult to assess this hypothesis or understand the impact of microinversions upon genome evolution...
  6. Yamada N, Rector L, Tsang P, Carr E, Scheffer A, Sederberg M, et al. Visualization of fine-scale genomic structure by oligonucleotide-based high-resolution FISH. Cytogenet Genome Res. 2011;132:248-54 pubmed publisher
  7. Abou Elew H, Ahmed H, Raslan H, Abdelwahab M, Hammoud R, Mokhtar D, et al. Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients. Ann Hematol. 2011;90:579-84 pubmed publisher
    ..In addition, F8 intron 22 inversion/deletion by IS-PCR has proven to be a rapid and robust technique and might be the recommended tool for genetic analysis of HA patients specially with severe cases in developing countries. ..
  8. Rego C, Balanyà J, Fragata I, Matos M, Rezende E, Santos M. Clinal patterns of chromosomal inversion polymorphisms in Drosophila subobscura are partly associated with thermal preferences and heat stress resistance. Evolution. 2010;64:385-97 pubmed publisher
    ..subobscura, we tentatively conclude that selection on tolerance to thermal extremes is more important in the evolution and dynamics of clinal patterns than the relatively "minor" adjustments from behavioral thermoregulation...
  9. Horino A, Kenri T, Sasaki Y, Okamura N, Sasaki T. Identification of a site-specific tyrosine recombinase that mediates promoter inversions of phase-variable mpl lipoprotein genes in Mycoplasma penetrans. Microbiology. 2009;155:1241-9 pubmed publisher
    ..penetrans HF-2 cells. All these promoter inversions occurred at the 12 bp inverted repeat (IR) sequences flanking the promoter sequence. The consensus sequence of these IRs was proposed as TAAYNNNDATTA (Y=C or T; D=A, G or T)...
  10. Mizuno K, Miyabe I, Schalbetter S, Carr A, Murray J. Recombination-restarted replication makes inverted chromosome fusions at inverted repeats. Nature. 2013;493:246-9 pubmed publisher
    ..We propose that the error-prone nature of restarted forks contributes to the generation of GCRs and gene amplification in cancer, and to non-recurrent CNVs in genomic disorders...
  11. Sindi S, Raphael B. Identification and frequency estimation of inversion polymorphisms from haplotype data. J Comput Biol. 2010;17:517-31 pubmed publisher
    ..Many of these correspond to known inversions or have other evidence supporting them, and the predicted inversion frequencies largely agree with the limited information presently available...
  12. Feder J, Nosil P. Chromosomal inversions and species differences: when are genes affecting adaptive divergence and reproductive isolation expected to reside within inversions?. Evolution. 2009;63:3061-75 pubmed publisher
    ..We also find that strong selection facilitates maintenance of divergence in a manner analogous to inversions...
  13. Furuta Y, Kawai M, Yahara K, Takahashi N, Handa N, Tsuru T, et al. Birth and death of genes linked to chromosomal inversion. Proc Natl Acad Sci U S A. 2011;108:1501-6 pubmed publisher
    ..These results will guide the interpretation of extensive DNA sequencing results for understanding long- and short-term genome evolution in various organisms and in cancer cells...
  14. von Grotthuss M, Ashburner M, Ranz J. Fragile regions and not functional constraints predominate in shaping gene organization in the genus Drosophila. Genome Res. 2010;20:1084-96 pubmed publisher
    ..Fragile regions rather than functional constraints have been the main determinant of the evolution of the Drosophila chromosomes...
  15. Rocca K, Gray E, Costantini C, Besansky N. 2La chromosomal inversion enhances thermal tolerance of Anopheles gambiae larvae. Malar J. 2009;8:147 pubmed publisher
    ..Toward deciphering the role of the 2La inversion in local adaptation, the present investigation focused on variation in larval and pupal thermo-tolerance in two populations dissimilar solely in 2La arrangement...
  16. Ayala D, Fontaine M, Cohuet A, Fontenille D, Vitalis R, Simard F. Chromosomal inversions, natural selection and adaptation in the malaria vector Anopheles funestus. Mol Biol Evol. 2011;28:745-58 pubmed publisher
  17. Fang Z, Pyhäjärvi T, Weber A, Dawe R, Glaubitz J, González J, et al. Megabase-scale inversion polymorphism in the wild ancestor of maize. Genetics. 2012;191:883-94 pubmed publisher
  18. Sharakhova M, Xia A, Leman S, Sharakhov I. Arm-specific dynamics of chromosome evolution in malaria mosquitoes. BMC Evol Biol. 2011;11:91 pubmed publisher
    ..It is also unclear if the evolutionary breakage of inversion-poor chromosomal arms is under constraints...
  19. Lee Y, Cornel A, Meneses C, Fofana A, Andrianarivo A, McAbee R, et al. Ecological and genetic relationships of the Forest-M form among chromosomal and molecular forms of the malaria vector Anopheles gambiae sensu stricto. Malar J. 2009;8:75 pubmed publisher
    ..Recent studies suggest that the M form found in Cameroon is genetically distinct from the M form found in Mali and elsewhere in West Africa, suggesting further subdivision within that form...
  20. Fragata I, Balanya J, Rego C, Matos M, Rezende E, Santos M. Contrasting patterns of phenotypic variation linked to chromosomal inversions in native and colonizing populations of Drosophila subobscura. J Evol Biol. 2010;23:112-23 pubmed publisher
    ..subobscura. We challenge this assertion and conclude that contrasting wing shape clines came out as a correlated response of inversion clines that might have been predicted considering the genetic background of colonizers...
  21. Kolb J, Chuzhanova N, Högel J, Vasquez K, Cooper D, Bacolla A, et al. Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes. Chromosome Res. 2009;17:469-83 pubmed publisher
  22. Volleth M, Eick G. Chromosome evolution in bats as revealed by FISH: the ongoing search for the ancestral chiropteran karyotype. Cytogenet Genome Res. 2012;137:165-73 pubmed publisher
    ..Given our present knowledge of chiropteran karyotypes, only a few elements of the ancestral chiropteran karyotype can be reconstructed with confidence...
  23. Huynh L, Maney D, Thomas J. Chromosome-wide linkage disequilibrium caused by an inversion polymorphism in the white-throated sparrow (Zonotrichia albicollis). Heredity (Edinb). 2011;106:537-46 pubmed publisher
  24. Cheng C, White B, Kamdem C, Mockaitis K, Costantini C, Hahn M, et al. Ecological genomics of Anopheles gambiae along a latitudinal cline: a population-resequencing approach. Genetics. 2012;190:1417-32 pubmed publisher
    ..These results, coupled with similar conclusions from studies of clinal variation in Drosophila, point to a number of important biological functions associated with local environmental adaptation...
  25. Pasantes J, Wimmer R, Knebel S, Munch C, Kelbova C, Junge A, et al. 47,X,idic(Y),inv dup(Y): a non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation. Cytogenet Genome Res. 2012;136:157-62 pubmed publisher
    ..Because of its stable mitotic distribution, a de novo formation of a neocentromere has to be assumed...
  26. Zhang J, Yu C, Pulletikurti V, Lamb J, Danilova T, Weber D, et al. Alternative Ac/Ds transposition induces major chromosomal rearrangements in maize. Genes Dev. 2009;23:755-65 pubmed publisher
    ..This alternative transposition mechanism may have contributed to chromosome evolution and may also occur during V(D)J recombination resulting in oncogenic translocations...
  27. Feder J, Gejji R, Powell T, Nosil P. Adaptive chromosomal divergence driven by mixed geographic mode of evolution. Evolution. 2011;65:2157-70 pubmed publisher
    ..As inversion differences often separate closely related taxa, mixed modes of divergence could be common...
  28. Lucas Lledó J, Cáceres M. On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. PLoS ONE. 2013;8:e61292 pubmed publisher
    ..These results stress the importance of the sequencing strategy for the detection of structural variants, especially inversions, and offer guidelines for the design of future genome sequencing projects...
  29. Budroni S, Siena E, Dunning Hotopp J, Seib K, Serruto D, Nofroni C, et al. Neisseria meningitidis is structured in clades associated with restriction modification systems that modulate homologous recombination. Proc Natl Acad Sci U S A. 2011;108:4494-9 pubmed publisher
  30. Wallace A, Detweiler D, Schaeffer S. Evolutionary history of the third chromosome gene arrangements of Drosophila pseudoobscura inferred from inversion breakpoints. Mol Biol Evol. 2011;28:2219-29 pubmed publisher
    ..One of the youngest arrangements, Arrowhead, has one of the highest population frequencies suggesting that selection has been responsible for its rapid increase...
  31. Yu C, Zhang J, Peterson T. Genome rearrangements in maize induced by alternative transposition of reversed ac/ds termini. Genetics. 2011;188:59-67 pubmed publisher
    ..These results document the types and frequencies of genome rearrangements induced by alternative transposition of reversed Ac/Ds termini in maize...
  32. Antonacci F, Kidd J, Marques Bonet T, Ventura M, Siswara P, Jiang Z, et al. Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet. 2009;18:2555-66 pubmed publisher
    ..In these cases, discovery and genotyping methods based on SNPs may be confounded and molecular cytogenetics remains the only method to genotype these inversions...
  33. Gao L, Yi X, Yang Y, Su Y, Wang T. Complete chloroplast genome sequence of a tree fern Alsophila spinulosa: insights into evolutionary changes in fern chloroplast genomes. BMC Evol Biol. 2009;9:130 pubmed publisher
    ..Availability of cp genome sequence from a tree fern will facilitate interpretation of the evolutionary changes of fern cp genomes. Here we have sequenced the complete cp genome of a scaly tree fern Alsophila spinulosa (Cyatheaceae)...
  34. Shukla S, Kislow J, Briska A, Henkhaus J, Dykes C. Optical mapping reveals a large genetic inversion between two methicillin-resistant Staphylococcus aureus strains. J Bacteriol. 2009;191:5717-23 pubmed publisher
    ..At both the left and right junction sites in NRS387, an IS1181 element and a 73-bp sequence were identified as inverted repeats, which could explain the possible mechanism of the inversion event...
  35. Steinberg K, Antonacci F, Sudmant P, Kidd J, Campbell C, Vives L, et al. Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet. 2012;44:872-80 pubmed publisher
    ..Whereas H1 and H2 segmental duplications arose independently and before human migration out of Africa, they have reached high frequencies recently among Europeans, either because of extraordinary genetic drift or selective sweeps...
  36. Dittwald P, Gambin T, Gonzaga Jauregui C, Carvalho C, Lupski J, Stankiewicz P, et al. Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat. 2013;34:210-20 pubmed publisher
    ..We implicate inverted LCRs as a human genome architectural feature that could potentially be responsible for genomic instability associated with many human disease traits...
  37. Donnelly M, Paschou P, Grigorenko E, Gurwitz D, Mehdi S, Kajuna S, et al. The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet. 2010;86:161-71 pubmed publisher
    ..This estimate range is much more recent than the 3 million year age estimated by Stefansson et al. in 2005...
  38. Corbett Detig R, Cardeno C, Langley C. Sequence-based detection and breakpoint assembly of polymorphic inversions. Genetics. 2012;192:131-7 pubmed publisher
    ..melanogaster inversions as well as a framework for detection and assay design of inversions and other chromosome aberrations in diverse taxa...
  39. Ishmukhametova A, Chen J, Bernard R, de Massy B, Baudat F, Boyer A, et al. Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene. Hum Mutat. 2013;34:1080-4 pubmed publisher
  40. Lee H, Kweon J, Kim E, Kim S, Kim J. Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases. Genome Res. 2012;22:539-48 pubmed publisher
    ..In addition, our method raises the possibility of correcting genetic defects caused by chromosomal rearrangements and holds new promise in gene and cell therapy...
  41. Talkowski M, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, et al. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011;88:469-81 pubmed publisher
    ..These findings have implications ranging from genome annotation to de novo assemblies and could enable sequencing screens for structural variations at a cost comparable to that of microarrays in standard clinical practice. ..
  42. Pegueroles C, Ordóñez V, Mestres F, Pascual M. Recombination and selection in the maintenance of the adaptive value of inversions. J Evol Biol. 2010;23:2709-17 pubmed publisher
  43. George P, Sharakhova M, Sharakhov I. High-resolution cytogenetic map for the African malaria vector Anopheles gambiae. Insect Mol Biol. 2010;19:675-82 pubmed publisher
    ..The map's increased resolution can be used to further enhance physical mapping, improve genome assembly, and stimulate epigenomic studies of malaria vectors...
  44. Yu C, Danilova T, Zhang J, Birchler J, Peterson T. Constructing defined chromosome segmental duplications in maize. Cytogenet Genome Res. 2010;129:72-81 pubmed publisher
    ..These and similar lines containing precisely defined segmental duplications and deletions may be useful to study the genetic impact of gene dosage...
  45. Xia A, Sharakhova M, Leman S, Tu Z, Bailey J, Smith C, et al. Genome landscape and evolutionary plasticity of chromosomes in malaria mosquitoes. PLoS ONE. 2010;5:e10592 pubmed publisher
    ..However, it is not clear whether the genomic content of the chromosomal arms is associated with inversion polymorphism and fixation rates...
  46. Kugelberg E, Kofoid E, Andersson D, Lu Y, Mellor J, Roth F, et al. The tandem inversion duplication in Salmonella enterica: selection drives unstable precursors to final mutation types. Genetics. 2010;185:65-80 pubmed publisher
    ..Growth improves with each step in formation of an SJ or aTID amplification, allowing selection to favor completion of the mutation process...
  47. Delprat A, Negre B, Puig M, Ruiz A. The transposon Galileo generates natural chromosomal inversions in Drosophila by ectopic recombination. PLoS ONE. 2009;4:e7883 pubmed publisher
    ..Previous work revealed that the transposon Galileo was involved in the generation of two polymorphic inversions of Drosophila buzzatii...
  48. Gray E, Rocca K, Costantini C, Besansky N. Inversion 2La is associated with enhanced desiccation resistance in Anopheles gambiae. Malar J. 2009;8:215 pubmed publisher
    ..The purpose of this study was to determine the physiological mechanisms associated with the 2La inversion that may result in the preferential survival of its carriers in hygrically-stressful environments...
  49. Simard F, Ayala D, Kamdem G, Pombi M, Etouna J, Ose K, et al. Ecological niche partitioning between Anopheles gambiae molecular forms in Cameroon: the ecological side of speciation. BMC Ecol. 2009;9:17 pubmed publisher
  50. Prazeres da Costa O, Gonz lez J, Ruiz A. Cloning and sequencing of the breakpoint regions of inversion 5g fixed in Drosophila buzzatii. Chromosoma. 2009;118:349-60 pubmed publisher
    ..Our results show that different inversion-generating mechanisms may coexist within the same lineage and suggest a hypothesis for the evolutionary time and mode of their operation...
  51. Guillén Y, Ruiz A. Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution. BMC Genomics. 2012;13:53 pubmed publisher
    ..D. mojavensis, an ecological specialist adapted to a cactophilic niche under extreme desert conditions, is a chromosomally derived species with ten fixed inversions, five of them not present in any other species...
  52. Fabian D, Kapun M, Nolte V, Kofler R, Schmidt P, Schlotterer C, et al. Genome-wide patterns of latitudinal differentiation among populations of Drosophila melanogaster from North America. Mol Ecol. 2012;21:4748-69 pubmed publisher
  53. White B, Cheng C, Sangaré D, Lobo N, Collins F, Besansky N. The population genomics of trans-specific inversion polymorphisms in Anopheles gambiae. Genetics. 2009;183:275-88 pubmed publisher
    ..gambiae and its sibling species An. arabiensis...