SEARCH · Search PubMed

Results for “Duplication”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 649 records · Page 36Linked to original sources

PubMed1997

Lactate dehydrogenase (LDH) gene duplication during chordate evolution: the cDNA sequence of the LDH of the tunicate Styela plicata.

L-Lactate dehydrogenase (L-LDH, E.C. 1.1.1.27) is encoded by two or three loci in all vertebrates examined, with the exception of lampreys, which have a single LDH locus. Biochemical characterizations of LDH proteins have suggested that a gene duplication early in vertebrate evolution gave rise to Ldh-A and Ldh-B and that an additional locus, Ldh-C arose in a number of lineages more recently. Although some phylogenetic studies of LDH protein sequences have supported this pattern of gene duplication, others have contradicted it. In particular, a number of studies have suggested that Ldh-C represents the earliest divergence among vertebrate LDHs and that it may have diverged from the other loci well before the origin of vertebrates. Such hypotheses make explicit statements about the relationship of vertebrate and invertebrate LDHs, but to date, no closely related invertebrate LDH sequences have been available for comparison. We have attempted to provide further data on the timing of gene duplications leading to multiple vertebrate LDHs by determining the cDNA sequence of the LDH of the tunicate Styela plicata. Phylogenetic analyses of this and other LDH sequences provide strong support for the duplications giving rise to multiple vertebrate LDHs having occurred after vertebrates diverged from tunicates. The timing of these LDH duplications is consistent with data from a number of other gene families suggesting widespread gene duplication near the origin of vertebrates. With respect to the relationships among vertebrate LDHs, our data are not consistent with previous claims that Ldh-C represented the earliest divergence. However, the precise relationships among some of the main lineages of vertebrate LDHs were not resolved in our analyses.

Amino Acid Sequence↗

PubMed1998

Tandem duplication via light-strand synthesis may provide a precursor for mitochondrial genomic rearrangement.

A tandem duplication of the mitochondrial tRNA(Thr) and tRNA(Pro) genes in the amphisbaenian reptile Bipes biporus is the first case reported of a tandem duplication restricted to a single pair of tRNA genes in a vertebrate mitochondrial genome. Such duplications have been predicted, however, as intermediate steps in the evolution of observed mitochondrial genomic rearrangements through errors in light-strand replication. The tandem duplication reported here is evolutionarily associated with displacement of the origin for light-strand replication from its typical location in vertebrate mitochondrial genomes and loss of the dihydrouridine stem from the tRNA(Cys) gene; these factors implicate light-strand replicational errors in the tandem duplication of genic regions. Pseudogene formation in tandemly duplicated sequences appears to be an intermediate step in genomic rearrangement. However, formation of pseudogenes in the Bipes mitochondrial genome occurs in a pattern that precludes subsequent genomic rearrangement. Functional constraints placed on cleavage of mitochondrial transcripts by tRNA genes also may prevent mitochondrial genomic rearrangement.

Animals↗

PubMed1998

Ancient large-scale genome duplications: phylogenetic and linkage analyses shed light on chordate genome evolution.

Paralogous genes from several families were found in four human chromosome regions (4p16, 5q33-35, 8p12-21, and 10q24-26), suggesting that their common ancestral region underwent several rounds of large-scale duplication. Searches in the EMBL databases, followed by phylogenetic analyses, showed that cognates (orthologs) of human duplicated genes can be found in other vertebrates, including bony fishes. In contrast, within each family, only one gene showing the same high degree of similarity with all the duplicated mammalian genes was found in nonvertebrates (echinoderms, insects, nematodes). This indicates that large-scale duplications occurred after the echinoderms/chordates split and before the bony vertebrate radiation. It has been suggested that two rounds of gene duplication occurred in the vertebrate lineage after the separation of Amphioxus and craniate (vertebrates + Myxini) ancestors. Before these duplications, the genes that have led to the families of paralogous genes in vertebrates must have been physically linked in the craniate ancestor. Linkage of some of these genes can be found in the Drosophila melanogaster and Caenorhabditis elegans genomes, suggesting that they were linked in the triploblast Metazoa ancestor.

Animals↗

PubMed1993

Evolution of duplicate genes in a tetraploid animal, Xenopus laevis.

To understand the evolution of duplicate genes, we compared rates of nucleotide substitution between 17 pairs of nonallelic duplicated genes in the tetraploid frog Xenopus laevis with rates between the orthologous loci of human and rodent. For all duplicated X. laevis genes, the number of synonymous substitutions per site (dS) was greater than the number of nonsynonymous substitutions per site (dN), indicating that these genes are subject to purifying selection. There was also a significant positive correlation (r = 0.915) between dN for the X. laevis genes and dN for the mammalian genes, suggesting that, at the amino acid level, the X. laevis genes and the mammalian genes are under similar constraints. Results of relative-rate tests showed nearly equal rates of nonsynonymous substitution in each copy of the X. laevis genes; apparently there are similar constraints on both copies. No correlation was found between dS for the X. laevis genes and dS for the mammalian genes. There was a significant positive correlation both between members of pairs of duplicated X. laevis genes (r = 0.951) and between human and rodent orthologues (r = 0.854) with respect to third-position G+C content but no such relationship between the X. laevis genes and either of their mammalian orthologues. The results indicate that both copies of a duplicate gene can be subject to purifying selection and thus support the hypothesis of selection against all genotypes containing a null allele at either of two duplicate loci.

Animals↗

PubMed1978

Alimentary tract duplications in children.

This report reviews the experience with 78 alimentary tract duplications found in 64 patients over a 40 year period at the Children's Hospital of Pittsburgh. Ten patients had the duplication discovered at autopsy. Multiple duplications were found in 15% of patients. The symptoms and physical findings of a duplication varied with location, size and mucosal pattern. About one-fifth of the duplications contained ectopic mucosa, usually gastric. Two-thirds of the patients were diagnosed prior to one year of age. Vertebral anomalies, as a clue to the presence of the lesion, were present in 15% of the patients. The most common indications for surgery included a mediastinal or abdominal mass, intestinal obstruction, and gastrointestinal bleeding. The results of surgery were favorable, with a mortality of 20%. Surgical complications accounted for six deaths, while four children died of severe associated anomalies. Three others died without surgical treatment, but with symptoms from the duplication.

Digestive System Abnormalities↗

PubMed1983

Patterns of arterial distribution in the duplicated thumb.

The arterial blood supply of the duplicated thumb was studied in 42 hands using the angiography technique. The developing factor of the duplicated thumb also may hinder the developing process of the limb artery, especially in the early stage when the median artery develops. In 73.8 percent of duplicated thumbs, two digital arteries were present, and 96.8 percent of them had one digital artery in each member. Simple ablation of the supernumerary digit leaves the thumb with a single end-arterial blood supply. The developmental mechanism of the duplicated thumb may depend not on duplication of the limb bud, but on splitting of the limb mesenchyme. The group of type VII of Wassel's classification was different from the other types in terms of origin of the digital artery distributing blood to the duplicated thumb.

Angiography↗

PubMed2002

Calcium, calmodulin, and CaMKII requirement for initiation of centrosome duplication in Xenopus egg extracts.

Aberrant centrosome duplication is observed in many tumor cells and may contribute to genomic instability through the formation of multipolar mitotic spindles. Cyclin-dependent kinase 2 (Cdk2) is required for multiple rounds of centrosome duplication in Xenopus egg extracts but not for the initial round of replication. Egg extracts undergo periodic oscillations in the level of free calcium. We show here that chelation of calcium in egg extracts or specific inactivation of calcium/calmodulin-dependent protein kinase II (CaMKII) blocks even initial centrosome duplication, whereas inactivation of Cdk2 does not. Duplication can be restored to inhibited extracts by addition of CaMKII and calmodulin. These results indicate that calcium, calmodulin, and CaMKII are required for an essential step in initiation of centrosome duplication. Our data suggest that calcium oscillations in the cell cycle may be linked to centrosome duplication.

Animals↗

PubMed1973

Duplication-translocations of tryptophan operon genes in Escherichia coli.

Mutants of Escherichia coli were selected in which a single mutational event had both relieved the polar effect of an early trpE mutation on trpB and simultaneously released the expression of trpB from tryptophan repression. The frequency at which these mutations appeared was roughly equal to the frequency of point mutations. In each of these mutants, the mutation increased the function of trpB and also increased the activity of some, but not all, of the other four tryptophan operon genes. Genetic analysis showed that the mutations were not located within the trp operon since in each case the parental trp operon could be recovered from the mutants. Each mutant was shown to carry a duplication of a trp operon segment translocated to a new position near the trp operon. Polarity is relieved since the trpB duplication-translocation is not in the same operon as the trpE polar mutation. The duplicated and translocated segments are fused to operons not regulated by tryptophan, so trpB function is no longer subject to tryptophan repression. The properties of the mutants indicate that the length of the duplicated segment and the position to which it is translocated differ in each of the seven mutants studied. The duplications are unstable, but the segregation pattern observed is not consistent with a single crossover model for segregation. That such duplication-translocation events generate a variety of new genetic arrangements at a frequency comparable with point mutations suggests they may play an important role in evolution.

Chromosome Mapping↗

PubMed1986

Control of expression of an integrated Rous sarcoma provirus in rat cells: role of 5' genomic duplications reveals unexpected patterns of gene transcription and its regulation.

Rat cells transformed by Rous sarcoma virus frequently contain duplications of viral (and sometimes cellular) DNA 5' to the integrated provirus, suggesting that such rearrangements favor provirus expression. In one cell line, A11, the duplication includes the viral src gene and proviral sequences that flank it. We examined three possible roles for this structure. Since the proviral v-src gene transformed recipient cells upon DNA transfer and was the major template for v-src transcription in A11 cells, the presence of v-src in the duplication is presumably not necessary for transformation. Since the size and structure of transcripts from the proviral v-src gene in A11 cells were conventional, the duplication does not facilitate transformation by providing a novel transcriptional strategy. Thus, we favor the concept that the duplication either attenuates a negative effect of flanking elements at the host chromosome integration site or augments the positive regulation of conventional provirus expression or both. Gene transfer and transcription analyses with both genomic and cloned DNA showed that the mechanisms of such regulatory phenomena are complex. Identical sequences in the provirus and the 5' duplication displayed different patterns of expression in A11 cells that could be disrupted in segments of cloned DNA. Among the elements that influenced such expression were sequences from the gag-pol region of the provirus.

Animals↗

PubMed1988

A yeast gene essential for regulation of spindle pole duplication.

In eucaryotic cells, duplication of spindle poles must be coordinated with other cell cycle functions. We report here the identification in Saccharomyces cerevisiae of a temperature-sensitive lethal mutation, esp1, that deregulates spindle pole duplication. Mutant cells transferred to the nonpermissive temperature became unable to continue DNA synthesis and cell division but displayed repeated duplication of their spindle pole bodies. Although entry into this state after transient challenge by the nonpermissive temperature was largely lethal, rare survivors were recovered and found to have become increased in ploidy. If the mutant cells were held in G0 or G1 during exposure to the elevated temperature, they remained viable and maintained normal numbers of spindle poles. These results suggest dual regulation of spindle pole duplication, including a mechanism that promotes duplication as cells enter the division cycle and a negative regulatory mechanism, controlled by ESP1, that limits duplication to a single occurrence in each cell division cycle. Tetrad analysis has revealed that ESP1 resides at a previously undescribed locus on the right arm of chromosome VII.

Cell Cycle↗

PubMed1992

Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.

Eighty-four unrelated patients with Duchenne or Becker muscular dystrophy in Japan were studied by quantitative Southern blot analysis with dystrophin cDNA probes. We found partial deletions and duplications in 47 (56%) and 12 (14%) cases respectively by HindIII digestion. The duplications were confirmed by BglII digestion and densitometric scanning. The frequency of duplications in this study is significantly higher than those previously reported. This may be because of the small sample number, the racial difference, or our quantitative methods. Our results suggest that attempts to detect duplications are important for a precise diagnosis. Both deletions and duplications clustered at the two hot spots as reported previously. Six cases were exceptions to the 'reading frame hypothesis'. We detected three types of HindIII RFLP. Based on the results of one duplication case, we propose a revised sequential order of exons in the cDNA10 region of the dystrophin gene.

Adolescent↗

PubMed1998

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

We present seven families with a cytogenetic duplication of the short arm of chromosome 8 at band 8p23.1. The duplication has been transmitted from parents to offspring in four of the seven families. In three families, the source of the extra material and its euchromatic origin were established using FISH with a YAC which was mapped to 8p23.1 and a whole chromosome paint for chromosome 8. FISH signals from this YAC were significantly larger on the duplicated chromosome compared with the normal chromosome in all six family members tested. Comparative genomic hybridisation (CGH) on a representative subject was consistent with these results. The families were ascertained for a variety of mostly incidental reasons including prenatal diagnosis for advanced maternal age. The transmission of this duplication by multiple phenotypically normal family members with no history of reproductive loss suggests the existence of a novel class of 8p23.1 duplications, which can be regarded as euchromatic variants or duplications with no phenotypic effect.

Adult↗

PubMed1989

Role of gene duplication in evolution.

It is now known that many multigene and supergene families exist in eukaryote genomes: multigene families with uniform copy members like genes for ribosomal RNA, those with variable members like immunoglobulin genes, and supergene families such as those for various growth factor and hormone receptors. Many such examples indicate that gene duplication and subsequent differentiation are extremely important for organismal evolution. In particular, gene duplication could well have been the primary mechanism for the evolution of complexity in higher organisms. Population genetic models for the origin of gene families with diverse functions are presented, in which natural selection favors those genomes with more useful mutants in duplicated genes. Since any gene has a certain probability of degenerating by mutation, success versus failure in acquiring a new gene by duplication may be expressed as the ratio of probabilities of spreading of useful versus detrimental mutations in redundant gene copies. Also examined are the effects of gene duplication on evolution by compensatory advantageous mutations. Results of the analyses show that both natural selection and random drift are important for the origin of gene families. In addition, interaction between molecular mechanisms such as unequal crossing-over and gene conversion, and selection or drift is found to have a large effect on evolution by gene duplication.

Animals↗

PubMedDate not supplied

Fine needle aspiration biopsy of gastric duplication cysts with endoscopic ultrasound guidance.

OBJECTIVE: To evaluate the ability of endoscopic ultrasound (EUS)-guided fine needle aspiration biopsy (FNAB) to diagnose gastric duplication cysts. STUDY DESIGN: FNAB reports from the Department of Pathology, Saint Louis University Hospital, were retrospectively searched for reports of EUS-guided FNABs of the stomach. These reports were then reviewed to find instances in which gastric duplication cysts were diagnosed. The charts of patients diagnosed with gastric duplication cysts were reviewed. RESULTS: Two patients were identified. The first was a 35-year-old, Caucasian male with an asymptomatic submucosal (versus extrinsic) gastric mass discovered during computed tomography of the abdomen. The second was a 44-year-old, Caucasian male with a history of treated low grade B cell lymphoma of mucosa-associated lymphoid tissue (MALToma) who was found to have an asymptomatic gastric wall abnormality by EUS when undergoing follow-up for the MALToma. Respiratory-type epithelial cells were present in each of these gastric duplication cysts. At this writing, both patients were being followed clinically and with imaging. CONCLUSION: Gastric duplication cysts, particularly those that have respiratory-type epithelium, can be diagnosed by EUS-guided FNAB. The diagnosis of gastric duplication cysts by EUS-guided FNAB can preclude surgery, with its associated morbidity.

Adult↗

PubMedDate not supplied

Congenital duplication of the foot and toes.

Congenital duplication of the foot and toes is a commonly diagnosed condition in newborn nurseries across the United States. The foot involvement varies from simple fleshy tags to complex attempts at whole extremity duplication. We reviewed 59 patients (82 feet) with a variety of duplications (excluding skin tags). During our review, we devised a new descriptive system of classification of congenital duplications of the foot based primarily on the type and complexity of the skeletal duplication. Variables related to sex, bilaterality, age at surgery, family history, and follow-up results were documented, and an exact classification of each foot was accomplished. Results and prognosis vary with the class of duplication being treated and must be individualized case by case.

Animals↗

PubMed1999

Renal duplication artefacts in ultrasound imaging.

A duplication artefact is sometimes encountered on ultrasound examination of the left kidney. It is caused by sound beam refraction between the spleen and adjacent fat. The purpose of this study was to analyse the frequency and types of such artefacts, and examine their physical background. The examiner searched for a left renal duplication artefact in 150 unselected abdominal ultrasound studies. A disturbed contour of the left kidney could be formed in 34 of 123 patients in whom the spleen was in the image without covering the kidney completely. An artefact was seen significantly more often when the lower pole of the spleen was rounded (30/87) than when it was wedge shaped (4/36) (p < 0.02). The artefacts could be categorized into complete upper pole duplication (n = 4), incomplete upper pole duplication (n = 14) and bayonet artefact (n = 16). The thickness of the renal cortex appeared reduced with upper pole duplication artefacts owing to a geometric image compression, which could also be seen in an in vitro experiment. Left renal duplication artefacts are not rare when the upper part of the kidney is examined by ultrasound through the spleen.

Adolescent↗

PubMed1993

Partial anomalous pulmonary venous drainage of the left upper lobe vs duplication of the superior vena cava: distinction based on CT findings.

OBJECTIVE: Partial anomalous pulmonary venous drainage of the left upper lobe and duplication of the superior vena cava have similar appearances on CT scans. The purpose of this study was to review their appearances and provide guidelines for differentiating between them. MATERIALS AND METHODS: A review of the CT reports for the preceding 4 years disclosed seven patients whose original diagnosis was duplication of the superior vena cava and one patient whose diagnosis was partial anomalous pulmonary venous drainage of the left upper lobe. The 14 CT examinations of these eight patients were reviewed in order to observe the CT findings in each anomaly. RESULTS: In only five of the seven patients whose original diagnosis was duplication of the superior vena cava were CT findings compatible with that diagnosis. In the other two, CT findings were compatible with partial anomalous pulmonary venous drainage of the left upper lobe, as they were in the one patient with that as his original diagnosis. Two CT findings allow consistent differentiation. In duplication of the superior vena cava, two vessels can be seen anterior to the left main bronchus, whereas no vessels are present in this location in partial anomalous pulmonary venous drainage of the left upper lobe. Additionally, careful inspection reveals that the intraparenchymal veins in the left upper lobe drain to the normally positioned left superior pulmonary vein in duplication of the superior vena cava, whereas they drain to the anomalous vessel in partial anomalous pulmonary venous drainage of the left upper lobe. CONCLUSION: Careful analysis of the CT scans with particular attention to these two features allows differentiation between partial anomalous pulmonary venous drainage of the left upper lobe and duplication of the superior vena cava.

Congenital Abnormalities↗

PubMed1993

Enteric duplications in children--an analysis of 6 cases.

This is an analysis of 6 patients with enteric duplications seen over an 8 year period at the Department of Pediatric Surgery, Dongsan Medical Center. They were all males but one. All duplications were cystic, and single except one. Locations of duplications were in the duodenum in one patient, in the jejunum in one, and in the terminal ileum in four. Five of the 6 patients were seen within 1 year of life. Three were newborn infants who had symptoms of intestinal obstruction with palpable mass since birth. Duplication cyst acted as a leading point of intussusception in 4 month and 8 month old infants respectively. One jejunal duplication was found in an 11-year-old boy who had malrotation of the midgut with Ladd's bands. Clinical presentation, embryogenesis of duplication, and management are discussed.

Child↗