Disease relevance of Inversion, Chromosome

• Unlike Williams syndrome, we found no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11 deleted patients, or in eight non-deleted patients with a DGS/VCFS phenotype using FISH [1].
• A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein [2].
• A chromosomal inversion/insertion has also been described in acute leukemia with the MLL-AF10 fusion gene, and this may be a common pathway for producing fusion of reverse-oriented genes in leukemias and solid tumors [3].
• Here, we describe a new recurrent chromosomal inversion of chromosome 7, inv(7)(p15q34), in a subset of patients with T-cell acute lymphoblastic leukemia characterized by CD2 negative and CD4 positive, CD8 negative blasts [4].
• Indeed, gene rearrangements, often caused by chromosomal inversions, activate the oncogenic potential of RET in a fraction of human thyroid papillary carcinomas [5].

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

• Thus, the -200 region of the U4 RNA genes may represent a natural evolutionary occurrence of an enhancer sequence inversion [11].
• Moreover, the alignment of the two available T. whipplei genome sequences (Twist vs. TW08/27) revealed a large chromosomal inversion the extremities of which are located within two paralogous genes [12].
• More than half of the genotypes of P. aeruginosa clone C isolates exclusively from CF lung infection exhibit large chromosomal inversions (LCIs) [13].
• Molecular population genetics of the rp49 gene region in different chromosomal inversions of Drosophila subobscura [14].
• These derivatives contain a part of trp operon, and we have found that, when integrated into the chromosome, recombination can occur at high frequency between this trp DNA and the chromosomal trp operon leading to chromosomal inversions which fuse lacZ to the trp promoter [15].

Anatomical context of Inversion, Chromosome

• The PEBP2beta/CBF beta-SMMHC chimeric protein is localized both in the cell membrane and nuclear subfractions of leukemic cells carrying chromosomal inversion 16 [16].
• The inversion chromosome is seen in a number of FAB subclasses but is most commonly associated with acute myelomonocytic leukaemia with abnormal eosinophils, M4Eo [17].

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].

References