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PubMed1988

Extent of the mouse t complex and its inversions shown by in situ hybridization.

Probes for loci situated near one end of the proximal (Tcp-1) and distal (Qa-2, 3) inversions of the mouse t complex have been hybridized to chromosomes of mice with and without t complexes and with morphologically distinguishable chromosome 17s. Both the probe for Tcp-1 and that for Qa-2, 3 hybridized to clearly different positions on t and non-t chromosomes, thus making visible the extent of the two inversions. The proximal inversion extends from roughly the junction of bands A1 and A2 to band A3, and the distal inversion from band A3 to band C. Thus, the whole t complex extends from the band A1-A2 junction to band C, and is therefore somewhat larger than previously thought, and occupies about 1.2% of the genome. A probe for complement component 3 (C3-1), genetically known to be several cM distal to the t complex, was found by in situ hybridization to lie in band E1. The proximal part of chromosome 17 is one of the best known parts of the mouse genome, at both the genetic and molecular levels. It may soon be possible to correlate the length of the t complex in terms of chromosomal distance with its physical length in megabases.

Animals↗
PubMed1996

Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome. Both individuals were found to have an identical double pericentric inversion [inv5(p15.1q31(inv5(p14q12)))]. Neither inversion breakpoint mapped near the chromosomal regions implicated in the cri-du-chat syndrome. The phenotype of the son suggests that the inversion process may have affected the expression of some of the cri-du-chat syndrome genes, suggestive of a genomic imprinting or penetrance effect.

Adult↗
PubMed2003

Latitudinal clines in Drosophila melanogaster: body size, allozyme frequencies, inversion frequencies, and the insulin-signalling pathway.

Many latitudinal clines exist in Drosophila melanogaster: in adult body size, in allele frequency at allozyme loci, and in frequencies of common cosmopolitan inversions. The question is raised whether these latitudinal clines are causally related. This review aims to connect data from two very different fields of study, evolutionary biology and cell biology, in explaining such natural genetic variation in D. melanogaster body size and development time. It is argued that adult body size clines, inversion frequency clines, and clines in allele frequency at loci involved in glycolysis and glycogen storage are part of the same adaptive strategy. Selection pressure is expected to differ at opposite ends of the clines. At high latitudes, selection on D. melanogaster would favour high larval growth rate at low temperatures, and resource storage in adults to survive winter. At low latitudes selection would favour lower larval critical size to survive crowding, and increased male activity leading to high male reproductive success. Studies of the insulin-signalling pathway in D. melanogaster point to the involvement of this pathway in metabolism and adult body size. The genes involved in the insulin-signalling pathway are associated with common cosmopolitan inversions that show latitudinal clines. Each chromosome region connected with a large common cosmopolitan inversion possesses a gene of the insulin transmembrane complex, a gene of the intermediate pathway and a gene of the TOR branch. The hypothesis is presented that temperate D. melanogaster populations have a higher frequency of a 'thrifty' genotype corresponding to high insulin level or high signal level, while tropical populations possess a more 'spendthrift' genotype corresponding to low insulin or low signal level.

Animals↗
PubMed2002

Simultaneous molecular and morphological analysis of braconid relationships (Insecta: Hymenoptera: Braconidae) indicates independent mt-tRNA gene inversions within a single wasp family.

We investigated the phylogeny of the Braconidae (Insecta: Hymenoptera) with a much expanded data set compared with that of previous attempts, employing 16S and 28S rDNA gene fragments, together with a suite of morphological characters, from 74 ingroup taxa. Most notably, parsimony analyses under a range of models recovered the Aphidiinae as sister group to the cyclostomes and the Ichneutinae as sister group to the microgastroids. The cyclostomes were recovered as a natural group only if certain, putatively misplaced genera (Mesostoa, Aspilodemon) were excluded from them. Further, mapping of rearrangement characters onto this phylogeny of the Braconidae indicated parallel inversions of the mt-tRNAD gene, with the two instances of inversion distinguishable by the presence or absence of an additional tRNA gene (tRNAH). This is the first report of a parallel inversion of a mt-tRNA gene and makes the Braconidae the first metazoan family to display both parallel inversions and translocations.

Animals↗
PubMed2001

Whole arm inversions of chromosome 4 in Drosophila species.

Inversions of genetic segments during the evolution of Drosophila are well documented in the X chromosome and most autosomes, but little attention has been paid to chromosome 4, the smallest autosome or "dot chromosome" present in many Drosophila species. From our previous mapping we have defined probes that mark proximal, intermediate, and distal locations of chromosome 4 in D. melanogaster. In situ hybridizations on salivary gland polytene chromosomes with these probes show that the whole right arm, including genes within cytological region 101EF-102F, is inverted relative to D. simulans. We also used these probes to determine the orientation of the arm of the dot chromosome in nine species of Drosophila, including eight from the melanogaster subfamily. To account for the observed whole arm inversions of chromosome 4 in five of the nine species examined, we propose that three inversion events have occurred during the evolution of these species. These whole arm inversions may explain some of the unusual features of this chromosome.

Animals↗
PubMed2004

Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates.

The human-specific pericentric inversion of chromosome 18 was analysed using breakpoint-spanning BACs from the chimpanzee and human genome. Sequence and FISH analyses disclosed that the breakpoints map to an inverted segmental duplication of 19-kb, which most likely mediated the inversion by intrachromosomal homologous recombination. The 19-kb duplication encompasses the 3' end of the ROCK1 gene and occurred in the human lineage. Only one copy of this segment is found in the chimpanzee. Due to the inversion, the genomic context of the ROCK1 and USP14 genes is altered. ROCK1 flanks USP14 in the long arm of the chimpanzee chromosome 17, which is homologous to human chromosome 18. This order is interrupted by the inversion in humans. ROCK1 is localized close to the pericentromeric region in 18q11 and USP14 is inverted to distal 18p11.3 in direct neighbourhood to LSAU-satellites, beta-satellites and telomere-associated repeats. Our findings essentially confirm the analysis of Dennehey et al. (2004). Intriguingly, USP14 is differentially expressed in human and chimpanzee cortex as well as fibroblast cell lines determined previously by the analysis of oligonucleotide arrays. Either position effects mediated by the proximity to the telomeric region or nucleotide divergence in regulatory regions might account for the differential expression of USP14. The assignment of the breakpoint region to a segmental duplication underlines the significance of the genomic architecture in the context of genome and karyotype evolution in hominoids.

Animals↗
PubMed2005

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.

Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the homologue of human chromosome 5. Breakpoint-spanning BAC clones were identified from both the human and chimpanzee genomes by fluorescence in situ hybridisation, and the precise locations of the breakpoints were determined by sequence comparisons. In stark contrast to some other characterised evolutionary rearrangements in primates, this chimpanzee-specific inversion appears not to have been mediated by either gross segmental duplications or low-copy repeats, although micro-duplications were found adjacent to the breakpoints. However, alternating purine-pyrimidine (RY) tracts were detected at the breakpoints, and such sequences are known to adopt non-B DNA conformations that are capable of triggering DNA breakage and genomic rearrangements. Comparison of the breakpoint region of human chromosome 5q15 with the orthologous regions of the chicken, mouse, and rat genomes, revealed similar but non-identical syntenic disruptions in all three species. The clustering of evolutionary breakpoints within this chromosomal region, together with the presence of multiple pathological breakpoints in the vicinity of both 5p15 and 5q15, is consistent with the non-random model of chromosomal evolution and suggests that these regions may well possess intrinsic features that have served to mediate a variety of genomic rearrangements, including the pericentric inversion in chimpanzee chromosome 4.

Animals↗
PubMed2006

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.

The human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in inverted orientation. We therefore propose that the pericentric inversion of HSA 1 was mediated by intra-chromosomal non-homologous recombination between these highly homologous segmental duplications that had themselves arisen only recently in the human lineage by duplicative transposition.

Animals↗
PubMedDate not supplied

The association between inversion In(3R)Payne and clinally varying traits in Drosophila melanogaster.

In Drosophila melanogaster, inversion In(3R)Payne increases in frequency towards low latitudes and has been putatively associated with variation in size and thermal resistance, traits that also vary clinally. To assess the association between size and inversion, we obtained isofemale lines of inverted and standard karyotype of In(3R)Payne from the ends of the Australian D. melanogaster east coast cline. In the northern population, there was a significant association between In(3R)Payne and body size, with standard lines from this population being relatively larger than inverted lines. In contrast, the inversion had no influence on development time or cold resistance. We strengthened our findings further in a separate study with flies from populations from the middle of the cline as well as from the cline ends. These flies were scored for wing size and the presence of In(3R)Payne using a molecular marker. In females, the inversion accounted for around 30% of the size difference between cline ends, while in males the equivalent figure was 60%. Adaptive shifts in size but not in the other traits are therefore likely to have involved genes closely associated with In(3R)Payne. Because the size difference between karyotypes was similar in different populations, there was no evidence for coadaptation within populations.

Acclimatization↗
PubMed1988

Inversion events in the HSV-1 genome are directly mediated by the viral DNA replication machinery and lack sequence specificity.

The bacterial transposable element Tn5 was observed to undergo high-frequency sequence inversion when integrated into the herpes simplex virus type 1 (HSV-1) genome. Deletion analysis of the IS50 elements through which this recombination event occurred demonstrated the absence of cis-acting signals involved in the inversion process. Several observations suggested an intimate association of the recombination mechanism with HSV-1 DNA replication, including the ability of the seven viral genes that are essential for HSV-1 DNA synthesis to mediate Tn5 inversion in the absence of any other viral functions. Comparable results were obtained by using duplicate copies of the L-S junction of the HSV-1 genome. Thus inversion of the L and S components of the HSV-1 genome during productive infection does not appear to be a site-specific process, but rather is the result of generalized recombination mediated by the complex of gene products that replicate the viral DNA.

Animals↗
PubMed1996

The differential haloperidol effect on the immobility response elicited by clamping, grasping, bandaging and inversion in guinea pig, hamster and rat.

The induction and modification by haloperidol of inhibitory responses, by 4 inducing stimuli (inversion, clamping, bandaging and grasping) were studied and compared in guinea pig, hamster and rat. When undrugged, all 4 stimuli induced immobility responses in guinea pig; only clamping, bandaging and grasping, but not inversion, induced immobility responses (IR) in hamsters; only clamping and grasping, but not inversion and bandaging induced IR in rats. Haloperidol significantly potentiated the occurrence and duration of the IR by clamping, grasping and bandaging in rats. In hamsters haloperidol only potentiated the IR induced by bandaging, and in guinea pigs, haloperidol had no effect on IR produced by any of the stimuli. These findings suggest an inverse relationship between susceptibility to IR and the potentiation of IR by haloperidol.

Animals↗
PubMed1989

Participation of the hup gene product in site-specific DNA inversion in Escherichia coli.

The closely related Escherichia coli genes hupA and hupB each encode a bacterial histone-like protein HU. We report here that DNA inversion mediated by hin, gin, pin and rci but not by cin is blocked in a hupA hupB double mutant, although inversions in these systems occur in the hupA or hupB single mutant as efficiently as in the wild-type strain. These findings show that HU protein participates in site-specific DNA inversion in E. coli and that only one subunit, either HU-1 or HU-2, is sufficient for this inversion.

Bacterial Proteins↗
PubMed1994

IHF supresses the inhibitory effect of H-NS on HU function in the hin inversion system.

In the hin-mediated DNA inversion system, HU facilitates formation of the synaptic complex composed of two recombination sites spaced 996 bp apart and of the enhancer situated between them, by looping the DNA as to promote interaction of Hin invertase with the Fis enhancer factor [Johnson et al., Nature 329 (1987) 462-465]. The HU requirement for the in vivo hin-mediated inversion was demonstrated previously [Wada et al., Gene 76 (1989) 345-352; Hillyard et al., J. Bacteriol. 172 (1990) 5402-5407; Haykinson and Johnson, EMBO J. 12 (1993) 2503-2512] and in the current experiments. This HU action, however, required IHF when H-NS was present in the cell; i.e., the inversion reaction of the hin-invertible DNA fragment carried by the pKK1202R plasmid proceeded efficiently in host cells either deficient in H-NS or in the presence of both H-NS and IHF, but not in the cells depleted for IHF alone. The level of hin mRNA in mutant cells lacking HU or IHF, in which hin inversion did not occur, was normal or slightly increased. When IHF was absent, the stimulating effect of HU on in vitro DNA circle formation of a 125-bp hin fragment between hixL and the enhancer where Fis binds was inhibited by H-NS. The present study provides an example of a multi-component interaction between HU, H-NS and IHF on the hin DNA region, which contains three characteristic sites, a d(A/T)4 stretch and bent DNA site, and two putative IHF-binding sites.

Bacterial Outer Membrane Proteins↗
PubMed2006

Spontaneous recombination between homologous prophage regions causes large-scale inversions within the Escherichia coli O157:H7 chromosome.

It is known that XbaI-digested chromosomal DNAs of strains of Escherichia coli O157:H7 exhibit a wide variety in pulsed-field gel electrophoresis (PFGE) fragment patterns, which is used for epidemiological surveillance of this important pathogen. The variety in the restriction enzyme-digestion patterns suggests a wide genomic diversity, however, only a few studies have been conducted to investigate involvement of large-scale chromosomal rearrangements in development of the diversity. In this study, through rounds of subculturing E. coli O157:H7 strain EDL933, naturally occurring genome variation in the isolated derivatives was investigated. By comparing the PFGE patterns among clonally related derivatives, we found five types of large-scale inversions taking place within the chromosome. The five inversions found were across the replication axis and ranged from 250-kb to 1.4-Mb long, and all the corresponding recombination sites were associated with prophages or phage-like regions. Four inversions out of the five were resulted from recombination between pairs of lambda-like prophages disturbing the symmetry of the origin and terminus of the replication axis. These observations indicate that those prophage regions represent some of the hot spots for intrachromosomal recombination within the E. coli O157:H7 chromosome, where recombination between the prophage regions results not only in the large chromosomal inversions but might also in generation of chimeric phages.

Cells, Cultured↗
PubMed2005

Non-puerperal uterine inversion associated with endometrial carcinoma--a case report.

BACKGROUND: Non-puerperal uterine inversion is rare, and a case associated with endometrial carcinoma is even rarer. It is difficult to diagnose the condition preoperatively and most cases are diagnosed at surgery. CASE: We describe a case of uterine inversion associated with endometrial carcinoma. Initially, the patient was thought to have a cervical adenocarcinoma and treated with chemotherapy; however, a diagnosis of uterine inversion was made with magnetic resonance imaging (MRI) and ultrasonography during pre-surgical chemotherapy. We performed total abdominal hysterectomy, bilateral salpingo-oophorectomy, and bilateral pelvic lymphadenectomy. CONCLUSION: MRI and ultrasonography can be extremely useful tools for diagnosing uterine inversion.

Endometrial Neoplasms↗
PubMed1985

G inversion in bacteriophage Mu DNA is stimulated by a site within the invertase gene and a host factor.

The Gin function of bacteriophage Mu catalyzes inversion of the G DNA segment, thus switching the host range of Mu phage particles. This site-specific recombination event takes place between inverted repeat sequences (IR) that border the G segment. Sequences in the Mu beta region extending approximately from position 118 to 178 are essential for efficient inversion. In cis this region, termed sis, stimulates inversion about 15-fold. Neither the relative orientation of sis with respect to the IR sequences nor the distance to IR substantially influences the stimulatory effect. For full activity purified Gin protein must be supplemented with crude host factor from E. coli K12. We suggest that, in addition to Gin, a DNA-binding host protein is required for efficient G inversion.

Bacterial Proteins↗
PubMed1997

Constitutional inversion of chromosome 7 and hematologic cancers.

Nonrandom aberrations of chromosome 7 have been described in various hematopoietic disorders. We describe here two unrelated families with the same constitutional inversion of chromosome 7 [inv(7)(q11.2q22)]. The probands in both families had acute leukemia and cytogenetic analysis revealed that the inversion was the sole cytogenetic abnormality in the bone marrow at diagnosis. There is a history of hematologic diseases in one of these families that included a son who is a carrier of this constitutional inversion. The distal inversion breakpoint lies within the common region of chromosome loss identified in some myeloid diseases. These observations raise the possibility that this inherited chromosome rearrangement could result in a mutation of a tumor suppressor gene and possibly represent a predisposing event for the development of leukemia in these individuals.

Aged↗
PubMed1999

The left border of the genomic inversion of pseudorabies virus contains genes homologous to the UL46 and UL47 genes of herpes simplex virus type 1, but no UL45 gene.

The genome of pseudorabies virus (PrV) is collinear with the herpes simplex virus type 1 (HSV1) genome, except for an inversion in the unique long region, the right extremity of which resides within the BamHI fragment 9 and the left within the BamHI fragment 1. We previously sequenced the right border of the inversion which is situated next to the UL44-gC gene and found that it encodes the UL24, UL25, UL26 and UL26.5 gene counterparts of HSV1. We have now sequenced 5317 base pairs of the BamHI fragment 1, upstream of the UL27-gB gene. We found two open reading frames homologous to UL46 and UL47 of HSV1 yet UL45 was absent and replaced by a set of strictly repeated sequences. PrV UL46 and UL47 are transcribed into two 3' co-terminal messenger RNAs with early and late kinetics, respectively. Comparison of the PrV UL46 and UL47 protein sequences with their counterparts from alphaherpesviruses indicated a strong similarity. The genome is rearranged in this region with respect to HSV1 and the inversion must have taken place, on the left side, within the UL46-UL27 intergenic region. Thus, the inversion should include genes UL27 to UL44.

Amino Acid Sequence↗