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Results for “insertion, inversion”

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PubMed1989

Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories.

Data on 1,237 prenatal (amniocyte) diagnoses in cases of familial chromosome rearrangements were collated from 79 American and Canadian laboratories. These were added to European data (Daniel et al: Prenatal Diagn 6:315-350, 1986) on 596 reciprocal translocations (rcp) from 71 collaborative laboratories. The total data set was examined for relationships between balanced or unbalanced result and mode of ascertainment, sex of carrier parent, chromosomes involved, and (in cases of reciprocal translocations and pericentric inversions) for potential or actual chromosome imbalance size (% haploid autosome length). Risk rates for unbalanced segregants were markedly dissimilar. These ranged from approximately 50% down to essentially a negligible risk. The risk was approximately 50% for carriers of the following: complex chromosome rearrangements (ccr); insertions (ins); and for 2:2 segregating rcp ascertained by mode 1 (term unbalanced proband) with small imbalance segments. Pooled carriers (either sex) of 2:2 segregating rcp of mode 1 had a risk of 20-25% whereas female Robertsonian (rob) translocation (D;21) carriers and pericentric inversion (pii) carriers of pii with small distal segments had a risk of 10-15%. Pooled 2:2 segregating rcp carriers ascertained by mode 2 (a couple with recurrent miscarriages) and male carriers of rob (D;21) had a risk of 1.5-5%. The risk of unbalanced segregants was 1-2% (in this data) for male and female rob (13;14) carriers and for pooled pericentric inversion carriers. However, for carriers of most "type" (recurrent breakpoints) pii, for all paracentric inversions, and (as expected) for rob not involving 13 or 21, there were no term unbalanced progeny. For 2:2 segregating reciprocal translocations plots were prepared that could be used to determine broad risk groups for carriers of such rcp. In 3:1 segregating rcp there were 3.3 times fewer male than female carriers, whereas there were 1.3 times fewer male carriers in 2:2 segregating rcp. In 2:2 segregating rcp there is little effect on the fertility of male carriers and risks of unbalanced progeny were found to be equal to those for female carriers, whereas in the 3:1 segregating rcp, risks were much less for male as compared to female carriers. This indicates that 3:1 segregating rep are more similar to Robertsonian translocations in their greater effect on the fertility of male carriers.(ABSTRACT TRUNCATED AT 400 WORDS)

Abortion, Habitual↗

PubMed1991

FIS-induced bending of a region upstream of the promoter activates transcription of the E coli thrU(tufB) operon.

The upstream activator sequence (UAS) of the thrU(tufB) operon, which is the target of the trans-activating protein FIS, has a bent structure. Here we show that the center of bending lies around position -95, between the two FIS-binding regions. Studies with fis+ and fis- cells show that FIS-induced bending of the UAS plays a major role in the trans-activation of the thrU(tufB) operon. This has been concluded from the finding that insertions of small DNA segments, comprising less than one or two complete helix turns, in the junction of the UAS and the RNA polymerase-binding site reduce transcription significantly. Partial restoration of transcriptional activity occurs when one or more full helix turns are inserted. These data are in line with but do not prove that a direct interaction between FIS and RNA polymerase is involved in trans-activation. A role of bending per se resulting from FIS/DNA interaction cannot be excluded.

Base Sequence↗

PubMed2005

[Mutation mechanisms and their consequences].

The identification of mutations leading to human genetic diseases has grown into an intensive research field during the last few years. Through novel DNA analysis progress, it is now possible to determine the mutational spectrum for a given genetic disease and international databases are now available online. Genetic diagnosis of hereditary diseases has become an essential tool in genetic counselling and prenatal diagnosis. The knowledge of the deleterious mutation type and the molecular associated mechanism is fundamental in order to devise the optimal molecular diagnosis strategy. This review aims to present the various mutation categories involved in genetic diseases (single base-pair substitutions, small deletions or insertions, dynamic mutations, gross DNA lesions...) and to summarize our current knowledge about the main molecular mechanisms responsible for these mutations. Their deleterious consequences on gene expression, including transcription and transcript maturation, and protein loss or gain of function are also discussed in this review.

Chromosome Inversion↗

PubMed1993

Structural alterations of the chloroplast genome found in grasses are not common in monocots.

The distribution of structural rearrangements of the chloroplast genome found in grass cpDNA in comparison to that of tobacco was systematically checked in the cpDNAs of representative monocots. The physical map of lily cpDNA, which shares a key position in the diversity of monocotyledonous plants, was constructed to assess whether three inversions found in grass cpDNA are common in monocots. Specific probes for the detection of (1) intron loss in the rpoC1 gene, (2) insertional sequence gain in rpoC2, (3) deletion of ORF2280 in the inverted repeats, (4) non-reciprocal translocation of rpl23, and (5) rearrangements of ORF512, were hybridized to cpDNAs of lily, onion, spiderwort, two turf grasses, and wheat. The existence of intervening sequences in the rpoC1 and rpoC2 genes was also confirmed by PCR analysis. All markers used in the study revealed that structural rearrangements of the chloroplast genome were restricted to grasses, indicating that drastic structural alterations of the chloroplast genome had occurred in the ancestor(s) of grasses. These results also suggest that structural analysis of the chloroplast genome is applicable to the phylogenetic reconstruction of related plants.

Base Sequence↗

PubMed1984

Two brains, one child: interhemispheric information transfer deficits and confabulatory responding in children aged 4, 7, 10.

In an investigation of developmental trends in the ability to transfer information between the cerebral hemispheres, 138 children, ages 4, 7, and 10, viewed pictures presented to either the right or left hemisphere and were asked to describe what was viewed. Responses were socored for the number of accurate pictorial features reported (inclusion score), confabulation (erroneous embellishment), perceptual, semantic, and syntactic errors. Misses (failure to provide a response) were also noted. A preponderance of errors were found, such that 4-year olds engaged in a significant degree of confabulatory responding following right vs. left presentation. A significant inverse relationship was found between inclusion and confabulation such that the larger the gap in information reported the greater was the tendency to insert (confabulate) erroneous material. In addition, all children were given a tactile-shape recognition task employing both transfer and non-transfer conditions and requiring tactile exploration and visual recognition. Significantly more errors were found on the transfer vs. non transfer task among the 4-year olds only. In that deficits in information transfer were not complete but only partial, and given that significant intra-hemispheric (non-transfer) errors were also discovered, it was concluded that the hemispheres of children age 4 are not completely but only partially disconnected, and that intra-hemispheric (cortical) immaturity plays a significant role in the production of processing deficits.

Cerebral Cortex↗

PubMed2000

Genomic exploration of the hemiascomycetous yeasts: 18. Comparative analysis of chromosome maps and synteny with Saccharomyces cerevisiae.

We have analyzed the evolution of chromosome maps of Hemiascomycetes by comparing gene order and orientation of the 13 yeast species partially sequenced in this program with the genome map of Saccharomyces cerevisiae. From the analysis of nearly 8000 situations in which two distinct genes having homologs in S. cerevisiae could be identified on the sequenced inserts of another yeast species, we have quantified the loss of synteny, the frequency of single gene deletion and the occurrence of gene inversion. Traces of ancestral duplications in the genome of S. cerevisiae could be identified from the comparison with the other species that do not entirely coincide with those identified from the comparison of S. cerevisiae with itself. From such duplications and from the correlation observed between gene inversion and loss of synteny, a model is proposed for the molecular evolution of Hemiascomycetes. This model, which can possibly be extended to other eukaryotes, is based on the reiteration of events of duplication of chromosome segments, creating transient merodiploids that are subsequently resolved by single gene deletion events.

Ascomycota↗

PubMed2001

Lymphocyte radiosensitivity is a significant prognostic factor for morbidity in carcinoma of the cervix.

PURPOSE: To study the relationship between pretreatment peripheral blood lymphocyte radiosensitivity and morbidity following radiation therapy. METHODS AND MATERIALS: A prospective study was carried out in which patients with carcinoma of the cervix underwent radiation therapy. Intrinsic radiosensitivity was measured on pretreatment peripheral blood lymphocytes, using a limiting dilution clonogenic assay. Late morbidity was assessed using the Franco-Italian glossary. Results were correlated in an actuarial analysis. RESULTS: There were no correlations between the measured lymphocyte radiosensitivity (SF2) and colony-forming efficiency, patient age, tumor grade, or disease stage. For 83 patients, lymphocyte SF2 was a significant prognostic factor for the probability of developing both any (p = 0.002) and Grade 3 (p = 0.026) morbidity. In 174 patients, stage showed borderline significance as a prognostic factor for morbidity (p = 0.056). However, the type of treatment (intracavitary alone, intracavitary plus parametrial irradiation, single insertion plus whole-pelvis irradiation) was significantly associated with the probability of developing late complications (p = 0.013). There was a weak significant inverse correlation between lymphocyte SF2 and grade of morbidity (r = -0.34, p = 0.002). CONCLUSION: These data highlight the importance of normal cell radiosensitivity as a factor determining radiation therapy response. They also show that peripheral blood lymphocyte SF2 is a highly significant prognostic factor for the probability of developing late radiation morbidity, and that carcinoma of the cervix is a good model for testing radiobiologic principles in the clinic.

Age Factors↗

PubMed2003

Isolation and analysis of a new hopper hAT transposon from the Bactrocera dorsalis white eye strain.

A new hopper element belonging to the hAT transposon family was isolated from the white eye mutant strain of the Oriental fruit fly, Bactrocera dorsalis. Using the original hopper element sequence from the wild type Kahuku strain as a template, the new hopper was isolated by inverse and direct PCR. Nucleotide sequence analysis reveals a 3131 bp element with terminal and subterminal inverted repeat sequences, an 8 bp duplicated insertion site, and a conceptual translation yielding a single uninterrupted 650 amino acid open reading frame. The white eye hopper has structure more consistent with function than the Kahuku element, indicating that hopper is not an ancient relic. The hopper element remains distantly related to other known hAT elements including those from insects, and presently it is most similar to Activator-related elements discovered in the human genome. DNA hybridization studies indicate, however, that elements closely related to hopper exist in another bactrocerid species, the melonfly, B. cucurbitae.

Amino Acid Sequence↗

PubMed1995

Transposon-induced promoter scrambling: a mechanism for the evolution of new alleles.

We have studied a germinal revertant of the Mutator (Mu3)-induced mutation (Adh1-3F1124) of the maize alcohol dehydrogenase 1 gene (adh1). Transposon Mu3 was inserted at the TATA box of the promoter. The excision of Mu3 caused a complex, multibreakpoint DNA rearrangement with deletion, inverted duplication, and inversions affecting 430 nucleotides in the promoter region. These changes led to an unusual pattern of adh1 gene expression: increased levels of enzyme activity in one organ, decreased levels in another, and almost unchanged levels in a third organ. The evolutionary impact of transposon-induced promoter scrambling on generation of allelic diversity is discussed. We present a fragmentation model to help explain how transposon excision could induce multiple breakpoint aberrations without involving a homologous chromosome.

Alcohol Dehydrogenase↗

PubMed1992

Molecular genetic analysis of the mldr mouse: a spontaneous revertant at the mld locus containing a recombinant myelin basic protein gene.

The mld mutation is a complex genetic lesion affecting the myelin basic protein (MBP) locus in the mouse. The mutation consists of a variety of DNA rearrangements including: tandem duplication of the MBP structural gene, partial inversion of the 3' end of the upstream gene copy, duplication of a region flanking the rearrangement junction in the upstream copy and insertion between the two gene copies of a segment of extraneous DNA not associated with the wild-type MBP locus. The net result of the mutation is a dysfunctional MBP locus. Homozygous mld/mld mice produce very little MBP and consequently very little myelin. They exhibit a clinical phenotype characteristic of hypomyelination (shaking, convulsions). We have discovered a revertant mld mouse which does not exhibit clinical symptoms of hypomyelination. Genetic analysis indicates that the reversion is allelic to mld. We have designated the revertant locus mldr. Restriction analysis of mldr genomic DNA indicates that there is a single intact MBP gene. Analysis of various junction regions using the polymerase chain reaction indicates that the single MBP gene in mldr is derived by recombination from the 5' end of the upstream gene and the 3' end of the downstream gene. Studies on MBP expression in mldr mice indicate that the developmental regulation, level of expression and pattern of post-transcriptional processing of MBP gene products in mldr are similar to wild type. These results indicate that the recombinant MBP gene in mldr is fully functional. From this we infer that the MBP-deficient phenotype of the original mld mutant is attributable to the complex rearrangements in the upstream gene copy which render the locus dysfunctional.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗

PubMed1997

A PCR-based test for the presence of endogenous virus gene evA in chickens.

An endogenous virus, denoted evA, is present at high frequency in all brown egg layer lines. Using inverse polymerase chain reaction (PCR) based on the viral LTR regions, products were obtained containing cellular sequences 5' and 3' to the viral insertion point. PCR of chicken genomic DNA was carried out, using primers chosen from the 5' and 3' cellular sequences and a primer chosen from either the U3 or U5 portions of the viral LTR. Amplification of DNA from birds that did not carry evA with the primer triplets always gave a single 364 bp reaction product, interpreted as representing the flank-to-flank amplification product. Amplification of DNA from known homozygous or heterozygous evA carriers, with the same primer triplets, always gave both the expected junction product and 364 bp product. Therefore, these primer sequences can be used to distinguish evA carriers from non-carriers but cannot distinguish between homozygous and heterozygous evA carriers.

Alpharetrovirus↗

PubMed1993

The Mode of Replication Is a Major Factor in Segregational Plasmid Instability in Lactococcus lactis.

The effects of the rolling-circle and theta modes of replication on the maintenance of recombinant plasmids in Lactococcus lactis were studied. Heterologous Escherichia coli or bacteriophage lambda DNA fragments of various sizes were inserted into vectors based on either the rolling-circle-type plasmid pWV01 or the theta-type plasmid pAMbeta1. All pAMbeta1 derivatives were stably maintained. pWV01 derivatives, however, showed size-dependent segregational instability, in particular when large DNA fragments were inserted. All recombinant pWV01 derivatives generated high-molecular-weight plasmid multimers (HMW) in amounts that were positively correlated with plasmid size and inversely correlated with the copy numbers of the monomeric plasmid forms. Formation of HMW or reductions in copy numbers were not observed with pAMbeta1 derivatives. The results indicate that HMW formation and/or reduction in plasmid copy numbers is an important factor in the maintenance of pWV01 derivatives. It is concluded that theta-type plasmids are superior to rolling-circle-type plasmids for cloning in lactococci.

Journal Article↗

PubMed1998

Giant aneurysms of the middle cerebral artery trifurcation treated with extracranial-intracranial arterial bypass and endovascular occlusion. Report of two cases.

Giant middle cerebral artery (MCA) trifurcation aneurysms that cannot be excluded directly can be treated by flow inversion achieved by creation of an extracranial-intracranial bypass distal to the aneurysm, followed by occlusion of the parent vessel proximal to the aneurysm. As opposed to surgical occlusion, endovascular occlusion avoids dissection of the aneurysm area, and the site of occlusion can be chosen according to the flow distribution demonstrated on angiography performed during test occlusions. Two patients with giant aneurysms of the MCA trifurcation benefited from flow inversion treatment. Forty-eight hours after an MCA-superficial temporal artery bypass had been created, the M1 segment was occluded by inserting a coil in the first patient and the internal carotid artery was occluded with balloons in the second patient (there was no communicating artery in the latter case). Both occlusions were performed immediately after a clinical test of occlusion tolerance. The patients were clinically intact during the postoperative course. Follow-up angiography performed 11 and 4 months, respectively, after vessel occlusion showed that the aneurysm occlusion was stable.

Adult↗

PubMed2004

[Construction and expression of vector with aroA-in gene and its transformation in tobacco].

Inteins are intervening protein sequences that undergo self-excision from precursor protein with concomitant joining of flanking sequences. Here, we demonstrated intein cis-splicing in Nicotiana tabacum nuclear genomes by using artificial cis Ssp DnaB and Rma DnaB intein. We want to test whether protein splicing can occur in higher eucaryotic cell,which would play an important role in transgene containment in transgenic plants. Glyphosate-resistant Salmonella typhimurium aroA gene was divided at position 235/236 aa within EPSPS by inverse PCR from pLEPSPS. Amplified gene products with artificial cis-Ssp DnaB/Rma DnaB intein and split-Ssp DnaB/Rma DnaB intein were inserted at position 235 of EPSPS respectively to construct plasmid pLEBC, pLERC, pLEBT and pLERT. Above four aroA-In gene fusions were ligated into pET-32 to obtain E. coli expression vectors termed pETLEBC, pETLEBT, pETLERC and pETLERT. E. coli DE3 cells containing individual recombinant plasmids described above were induced by IPTG to produce corresponding protein products. Detectable spliced EPSPS and unspliced precursor demonstrated that splicing occurred in bacteria. aroA-cis SSp DnaB and aroA-cis Rma DnaB were ligated into Agrobacterium tumefaciens binary vector pLYM. Then A. tumefaciens containing EPSPS-(cis) intein cassettes were used for leaf disk transformation in N. tabacum. Integration of aroA-In gene into plant genome was confirmed by genomic PCR analyses. To verify the expression of fusion genes at transcriptional level, RT-PCR analyses were performed and the expected products were identified. These results suggested that plant cells support expression of S. typhimurium aroA-In fusion gene in nulear genomes. Thus,we speculated the existence of protein-splicing activity in plant cells. This opens the possibility of applying intein trans-splicing technique to reduce/prevent gene transfer by way of pollen in transgenic plants.

3-Phosphoshikimate 1-Carboxyvinyltransferase↗

PubMed1995

Polymorphic SINEs in chironomids with DNA derived from the R2 insertion site.

A short interspersed repeat (SINE) in the two sibling species Chironomus pallidivittatus and Chironomus tentans is described. It is present at many sites in the genome and is surrounded by 10 to 14 bp target site duplications. It consists of two sequence modules in different numbers and variable order relative to each other and often has large inversions of different sizes at one end. One of the modules contains pol III promoter consensus sequences. This SINE, nevertheless, is likely to have been dependent on an outside promoter for its formation. It is therefore interesting that both modules start with a 22 bp region with striking similarity to the R2 insertion site in the preribosomal gene of insects. We suggest that this type of SINE, termed Cp1, was formed after a series of events among which the first step was the retroposition of a tRNA gene into the R2 site in the preribosomal gene by the R2 coded protein. The final step is likely to have been due to retroposition from this site.

Animals↗

PubMed1996

Developmental genetics of the heart.

Studies of children with heart defects and chromosomal anomalies have led to the discovery that loss of an elastin gene can cause supravalvar aortic stenosis and that a 2 Mb deletion from 22q11 is second only to Down's syndrome as a cause of heart defects. Molecular dissection of the 22q11 region to find the genes which produce the outflow-tract defects and other disorders of neural crest migration has proven more difficult, as there are a large number of genes in the deleted region. Classic mapping studies have located a gene which can cause total anomalous venous drainage near the centromere of chromosome 4. Knockout mouse studies have demonstrated an important role in cardiac development for, amongst others, endothelin-1 and neuregulin. Functional redundancy and maternal rescue are two reasons why knockouts do not always live up to our expectations. Serendipitous findings in the mouse are equally important. Work continues to isolate the inversion of embryo turning (inv) gene which invariably disturb the left-->right gradient in homozygotes, causing heart defects in many instances. Sadly, the original insertional mutation has resulted in a complex deletion duplication which has slowed discovery of the coding sequence.

Animals↗

PubMed1998

Inversion and transposition of Tc1 transposon of C. elegans in mammalian cells.

Tc1/mariner transposons are widespread in the eukaryotes. In vitro transposition test indicated that the transposase is the only protein that is needed in transpositions. It was shown later that the reconstructed Tc1-like transposon, "sleeping beauty" in fish, and the Tc1 transposon in C. elegans jumps in human cells. This discovery indicates that the Tc1/mariner transposon may be engineered as a somatic gene therapy vector if coupled with an efficient gene delivery system. We introduced the Tc1 transposon from C. elegans into different mammalian cell lines and detected the transposition events, indicating that Tc1 transposon functions in different mammalian cells. Interestingly, a high inversion frequency of the transposon was also detected, suggesting that this type of transposon may add variations to host genome when it is horizontally transferred into a new species.

Animals↗

PubMed2003

Molecular mechanism of signal sequence orientation in the endoplasmic reticulum.

We have analyzed in vivo how model signal sequences are inserted and oriented in the membrane during cotranslational integration into the endoplasmic reticulum. The results are incompatible with the current models of retention of positive flanking charges or loop insertion of the polypeptide into the translocon. Instead they indicate that these N-terminal signals initially insert head-on with a cytoplasmic C-terminus before they invert their orientation to translocate the C-terminus. The rate of inversion increases with more positive N-terminal charge and is reduced with increasing hydrophobicity of the signal. Inversion may proceed for up to approximately 50 s, when it is terminated by a signal-independent process. These findings provide a mechanism for the topogenic effects of flanking charges as well as of signal hydrophobicity.

Animals↗