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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Inversion, Chromosome

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Disease relevance of Inversion, Chromosome


High impact information on Inversion, Chromosome

  • Analyses of a T-cell clone (J 6.19), which has productively rearranged the V beta 14 gene segment, indicate that the productive V beta-D beta-J beta rearrangement and its reciprocal flank recombination product are linked and located at either border of a chromosomal inversion [6].
  • His chromosomal inversion was found to truncate HMGA2, a gene that encodes an architectural factor involved in the etiology of many benign mesenchymal tumors and that maps to the 12q14.3 breakpoint [7].
  • We demonstrate here that the p(100H) chromosomal inversion disrupts both the p gene and the Sox6 gene [8].
  • Characterization of the organization of the known genes within the a and b gene complexes provided evidence for nonhomology and sequence inversion between MAT-1 and MAT-2 [9].
  • 5. The Rw mutation is associated with a chromosomal inversion spanning 30 cM of the proximal portion of mouse chromosome 5 [10].

Biological context of Inversion, Chromosome


Anatomical context of Inversion, Chromosome


Associations of Inversion, Chromosome with chemical compounds

  • The rat cDNA encodes an additional 35 N-terminal amino acids compared with the reported human cDNA, which has a 5'-UTR sequence inversion and a 41-nucleotide deletion including the putative initiator methionine [18].
  • The structure of Tn5 was manipulated so that the neomycin phosphotransferase gene of the transposon would be expressed only if a sequence inversion event occurred [19].
  • Here we report a chromosomal inversion similar to that found previously not associated with alterations in androgen plasma levels [20].
  • Further analysis of wings carrying an inversion chromosome which eliminates all recombination events showed that over 90% of the spots induced by chromium(VI) oxide are due to mitotic recombination [21].

Gene context of Inversion, Chromosome

  • The chromosomal inversion includes the Shh gene and the regulatory locus, located approximately 1 Mb away, within the Lmbr1 gene [22].
  • Our molecular characterization of the Roi locus demonstrates that it is a gain-of-function mutation of the bHLH gene amos that results from a chromosomal inversion [23].
  • The hypothesis that Tobiano coat color in horses may be associated with a chromosomal inversion involving genes within LG2 was tested by G-banding-based cytogenetic analysis and ordering of four loci-KIT, PDGFRA, albumin (ALB), and MC1R-in Tobiano and non-tobiano (homozygous as well as heterozygous) horses [24].
  • The HLA-A and B loci were linked absolutely with the inversion chromosome in a four generation pedigree [25].
  • In this paper, we have identified the nature of the slf mutation, and demonstrated that it is an X chromosomal inversion with one breakpoint close to Brn4 [26].


  1. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Saitta, S.C., Harris, S.E., Gaeth, A.P., Driscoll, D.A., McDonald-McGinn, D.M., Maisenbacher, M.K., Yersak, J.M., Chakraborty, P.K., Hacker, A.M., Zackai, E.H., Ashley, T., Emanuel, B.S. Hum. Mol. Genet. (2004) [Pubmed]
  2. A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein. Wechsler, D.S., Engstrom, L.D., Alexander, B.M., Motto, D.G., Roulston, D. Genes Chromosomes Cancer (2003) [Pubmed]
  3. EWS-ERG fusion transcript produced by chromosomal insertion in a Ewing sarcoma. Kaneko, Y., Kobayashi, H., Handa, M., Satake, N., Maseki, N. Genes Chromosomes Cancer (1997) [Pubmed]
  4. A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias. Speleman, F., Cauwelier, B., Dastugue, N., Cools, J., Verhasselt, B., Poppe, B., Van Roy, N., Vandesompele, J., Graux, C., Uyttebroeck, A., Boogaerts, M., De Moerloose, B., Benoit, Y., Selleslag, D., Billiet, J., Robert, A., Huguet, F., Vandenberghe, P., De Paepe, A., Marynen, P., Hagemeijer, A. Leukemia (2005) [Pubmed]
  5. Molecular biology of the MEN2 gene. Santoro, M., Melillo, R.M., Carlomagno, F., Visconti, R., De Vita, G., Salvatore, G., Lupoli, G., Fusco, A., Vecchio, G. J. Intern. Med. (1998) [Pubmed]
  6. Direct evidence for chromosomal inversion during T-cell receptor beta-gene rearrangements. Malissen, M., McCoy, C., Blanc, D., Trucy, J., Devaux, C., Schmitt-Verhulst, A.M., Fitch, F., Hood, L., Malissen, B. Nature (1986) [Pubmed]
  7. Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. Ligon, A.H., Moore, S.D., Parisi, M.A., Mealiffe, M.E., Harris, D.J., Ferguson, H.L., Quade, B.J., Morton, C.C. Am. J. Hum. Genet. (2005) [Pubmed]
  8. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Hagiwara, N., Klewer, S.E., Samson, R.A., Erickson, D.T., Lyon, M.F., Brilliant, M.H. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  9. The mating-type and pathogenicity locus of the fungus Ustilago hordei spans a 500-kb region. Lee, N., Bakkeren, G., Wong, K., Sherwood, J.E., Kronstad, J.W. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  10. Rump white inversion in the mouse disrupts dipeptidyl aminopeptidase-like protein 6 and causes dysregulation of Kit expression. Hough, R.B., Lengeling, A., Bedian, V., Lo, C., Bućan, M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. Structural and functional analysis of chicken U4 small nuclear RNA genes. Hoffman, M.L., Korf, G.M., McNamara, K.J., Stumph, W.E. Mol. Cell. Biol. (1986) [Pubmed]
  12. Tropheryma whipplei Twist: a human pathogenic Actinobacteria with a reduced genome. Raoult, D., Ogata, H., Audic, S., Robert, C., Suhre, K., Drancourt, M., Claverie, J.M. Genome Res. (2003) [Pubmed]
  13. Impact of large chromosomal inversions on the adaptation and evolution of Pseudomonas aeruginosa chronically colonizing cystic fibrosis lungs. Kresse, A.U., Dinesh, S.D., Larbig, K., Römling, U. Mol. Microbiol. (2003) [Pubmed]
  14. Molecular population genetics of the rp49 gene region in different chromosomal inversions of Drosophila subobscura. Rozas, J., Segarra, C., Ribó, G., Aguadé, M. Genetics (1999) [Pubmed]
  15. Chromosome rearrangements induced by recombinant coliphage lambda placMu. Barr, G.C., Dorman, C.J., Mellor, J., Higgins, C.F. Gene (1990) [Pubmed]
  16. The PEBP2beta/CBF beta-SMMHC chimeric protein is localized both in the cell membrane and nuclear subfractions of leukemic cells carrying chromosomal inversion 16. Kanto, S., Chiba, N., Tanaka, Y., Fujita, S., Endo, M., Kamada, N., Yoshikawa, K., Fukuzaki, A., Orikasa, S., Watanabe, T., Satake, M. Leukemia (2000) [Pubmed]
  17. The biological significance of the multidrug resistance gene MRP in inversion 16 leukemias. Kuss, B.J., Deeley, R.G., Cole, S.P., Willman, C.L., Kopecky, K.J., Wolman, S.R., Eyre, H.J., Callen, D.F. Leuk. Lymphoma (1996) [Pubmed]
  18. Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence. Lim, H.H., Michael, G.J., Smith, P., Lim, L., Hall, C. Biochem. J. (1992) [Pubmed]
  19. Simple assay for quantitation of Tn5 inversion events in Escherichia coli and use of the assay in determination of plasmid copy number. Weber, P.C., Levine, M., Glorioso, J.C. J. Bacteriol. (1988) [Pubmed]
  20. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22). Balducci, R., Toscano, V., Tedeschi, B., Mangiantini, A., Toscano, R., Galasso, C., Cianfarani, S., Boscherini, B. Clin. Genet. (1998) [Pubmed]
  21. The genotoxicity of chromium(VI) oxide in the wing spot test of Drosophila melanogaster is over 90% due to mitotic recombination. Graf, U., Heo, O.S., Ramirez, O.O. Mutat. Res. (1992) [Pubmed]
  22. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Krebs, O., Schreiner, C.M., Scott, W.J., Bell, S.M., Robbins, D.J., Goetz, J.A., Alt, H., Hawes, N., Wolf, E., Favor, J. Development (2003) [Pubmed]
  23. Rough eye is a gain-of-function allele of amos that disrupts regulation of the proneural gene atonal during Drosophila retinal differentiation. Chanut, F., Woo, K., Pereira, S., Donohoe, T.J., Chang, S.Y., Laverty, T.R., Jarman, A.P., Heberlein, U. Genetics (2002) [Pubmed]
  24. Comparison of horse chromosome 3 with donkey and human chromosomes by cross-species painting and heterologous FISH mapping. Raudsepp, T., Kijas, J., Godard, S., Guérin, G., Andersson, L., Chowdhary, B.P. Mamm. Genome (1999) [Pubmed]
  25. Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens. Pearson, G., Mann, J.D., Bensen, J., Bull, R.W. Am. J. Hum. Genet. (1979) [Pubmed]
  26. The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear. Phippard, D., Boyd, Y., Reed, V., Fisher, G., Masson, W.K., Evans, E.P., Saunders, J.C., Crenshaw, E.B. Hum. Mol. Genet. (2000) [Pubmed]
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