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PubMed2005

Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors.

Duplications of organs and/or tissues are rare in morphogenesis and have frequently been attributed to incomplete twinning. To further elucidate the phenotypes associated with organ duplications, we present three infants with duplication of the pituitary gland (DPG). A review of previously reported cases with DPG showed that the commonest additional findings were hypothalamic enlargement, a broad or duplicated sella, cleft palate, hypertelorism, oropharyngeal tumors, agenesis or hypoplasia of the corpus callosum, and abnormalities of vertebrae. DPG and additional malformations constitute a distinct and recognizable pattern of anomalies, which may constitute a polytopic field defect due to splitting of the notochord. However, the precise inductive mechanism resulting in DPG remains unknown.

Abnormalities, Multiple↗
PubMed2005

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.

A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion.

Abnormalities, Multiple↗
PubMed1975

Neoplastic change in duplications of the alimentary tract.

Two cases of adenocarcinoma arising in sequestrated duplications of the bowel in adults are reported. The literature is reviewed and a tendency for duplications to present in early childhood is noted. Although relatively few of these anomalies persist into adult life 8 cases of neoplastic change have now been reported. The histological features of many of the duplications undergoing malignant degeneration suggest the presence of underlying epithelial instability in this condition. It is postulated that duplications of the large bowel have malignant potential.

Adenocarcinoma↗
PubMed1993

Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.

It has been proposed that the structure of the exons that encode the triple helical domain of the fibrillar collagen genes arose by repeated tandem duplication of an ancestral unit exon. Because these exons encode a repeat motif [(Gly-X-Y)n], sequence homology between exons may have driven the recombinational process. We have characterized a tandem duplication mutation within a COL1A1 allele of type I collagen from an infant with the lethal form of osteogenesis imperfecta. The structure of the mutation is consistent with the occurrence of an unequal crossover within a 15 base pair region of sequence identity between exons 14 and 17 of the COL1A1 gene. The recombination produced a new 81 base pair 17/14 hybrid exon and complete duplication of exons 15 and 16. The sequence implies duplication of 60 amino acid residues within the triple helical domain with preservation of the Gly-X-Y repeat. These data suggest that a recombinational mechanism that explains the hypothetical evolutionary process is active in cells, but the lethal effect of this mutation raises questions about the role of these events in creating new structures for polymeric proteins.

Amino Acid Sequence↗
PubMed1988

The multicopy appearance of a large inverted duplication and the sequence at the inversion joint suggest a new model for gene amplification.

The amplified DNA of HC50474, a Chinese hamster fibroblast cell line selected in three steps for high resistance to coformycin, consists chiefly of 150 copies of a large inverted duplication including the adenylate deaminase gene. Most if not all of these units are more than 2 x 120 kb long. The inverted duplication was first detected in the cells recovered from the second selection step, at the same chromosomal location as the first step amplified units. Its formation and amplification appear to be coupled since the second step cell line already contained 40 copies of this novel structure. Reamplification of the inverted duplication occurred at the third step of selection concomitant with the loss of amplified DNA acquired during the first step. The head-to-head junction has been formed by recombination within a recombinational hotspot described previously [Hyrien, O., Debatisse, M., Buttin, G. and Robert de Saint Vincent, B. (1987) EMBO J., 6, 2401-2408]. Sequences at the joint and in the corresponding wild-type region reveal that the crossover sites, one of which occurs in the putative promoter region of B2 repeat, are located at the top of significant stem-loop structures and that patchy homologies between the parental molecules on one side of the breakpoints allow alignment of these crossover sites. We present a model which explains the formation and amplification of this and other large inverted duplications by errors in DNA replication.

Animals↗
PubMed1990

Tandem chromosomal duplications: role of REP sequences in the recombination event at the join-point.

We show that a family of prokaryotic repetitive sequences, called REP (repetitive extragenic palindromic), (Stern et al., 1984) is involved in the formation of chromosomal rearrangements such as duplications. The join-points of seven RecA+ tandem duplications previously characterized in Salmonella typhimurium, that fuse the hisD gene to distant foreign promoters, were cloned and sequenced. In all seven cases they are shown to have originated by recombination between distant REP sequences. Importantly, several join-points had also occurred at REP sequences even in a RecA-background. Thus, REPs can recombine with each other by a RecA(-)-independent mechanism involved in the generation of chromosomal rearrangements. While all RecA+ duplications analysed resulted from recombination between REP sequences, some RecA-duplications did occur also outside of REP sequences, in one case by recombination within a 7 bp homology. Possible roles for the known interaction between DNA gyrase and REP in chromosomal rearrangements are discussed.

Base Sequence↗
PubMed1975

Pattern formation in the imaginal wing disc of Drosophila melanogaster: fate map, regeneration and duplication.

Fragments of the wing disc of Drosophila (fig. 2) were either injected into mature third instar larvae for immediate metamorphosis, or cultured in adult abdomens for seven days before being transferred to larvae for metamorphosis. The structures differentiated during metamorphosis were then analysed. The results of the first series of experiments were used to construct an accurate fate map of the disc, and those of the second series were used to determine the regenerative properties of the disc. The fate map (fig. 7) shows presumptive proximal parts (notum, pleura, and dorsal and ventral hinge) at the two ends of the disc, with presumptive distal wing parts in between. During metamorphosis the disc epithelium folds upon itself along the presumptive wing border, bringing dorsal and ventral wing and hinge surfaces into apposition. The wing surfaces occupy a much smaller relative area, and the hinge parts a much larger relative area, in the fate map than in the adult structure. The cultured fragments, in general, behaved in accordance with the rule that when two cut surfaces are created by cutting across the disc, regeneration occurs from one of the cut surfaces and duplication occurs from the other (fig. 14). It was possible to define a level in the longitudinal axis of the disc from which regeneration proceeds outwards. Cut surfaces facing away from this level show regeneration, while cut surfaces facing this level undergo duplication. Similar behavior was found for the transverse axis, and for two diagonal series of cuts. Some fragments with two cut edges could regenerate from one edge while duplicating from the other, whereas others could regenerate from two cut edges simultaneously. However, fragments with four cut edges showed incomplete regeneration, and a high tendency to duplicate even though regeneration in all directions might have been expected on the basis of the other experiments.

Animals↗
PubMed1981

Squamous cell carcinoma arising in a duplication of the small bowel.

A case of squamous cell carcinoma arising in a cystic duplication within the small bowel mesentery of a 65-yr-old man is described. The cyst wall had a double layered smooth muscle coat with intervening ganglionic plexus; part of the cyst was lined by ciliated columnar epithelium. Twelve previously reported cases of carcinoma arising in duplications are reviewed together with present case. In all but one case, the onset of symptoms was probably related to malignant change; the age at presentation ranged from 26 to 65 yrs. Pre-operative diagnosis proved difficult, and led to a delay in the appropriate treatment of some of the five cases involving duplications of the rectum. Duplications of the alimentary tract are encountered only occasionally in adults; malignant change, although rare, should be recognised as a possible complication.

Aged↗
PubMed1989

Anatomical features associated with preaxial duplication (pd): a recessive mutation in the rat.

Preaxial polydactyly of the fore- and hindlimbs was found in Wistar-derived rats in 1978. Genetic analysis indicated that the polydactyly was due to the effects of an autosomal recessive gene (gene symbol; pd). Polydactylous homozygous rats had two or three pollices (six or seven digits) in the forelimbs and one to three preaxial extra digits (six to eight digits) in the hindlimbs. Skeletal examination revealed the presence of the extra carpal, metacarpal, and phalangeal bones that seemed to be complete or incomplete duplication of the navicular, greater multangular, first metacarpal, and phalanges of digit I in the forelimbs. In the hindlimbs, extra tarsal, metatarsal, and phalangeal bones were also observed preaxially. These extra elements seemed to be mirror-image duplications of the talus, navicular, second cuneiform, third cuneiform, cuboid, and metatarsals and phalanges of digits II-V with the absence of the first cuneiform, tibiale, first metatarsal, and phalanges of digit I. In addition, morphological changes were observed in the humerus, radius, and ulna in the forelimbs and femur, tibia, and fibula in the hindlimbs. Especially in the radius and tibia, thickening and bifurcation were found, indicating incomplete duplication of these bones. Based on these findings, the limb anomaly was classified as preaxial carpometacarpal/tarsometatarsal-type polydactyly with incomplete duplication of the radius and tibia. The mutant rats had other associated anomalies such as accessory spleens and cryptorchism. The males are sterile, whereas the females breed normally.

Animals↗
PubMed1996

Morphological and molecular characterization of retinoic acid-induced limb duplications in mice.

This study reports a morphological, skeletal, and molecular characterization of the supernumerary limbs induced by systemic administration of all-trans retinoic acid to egg-cylinder stage mouse embryos. As initially described by Rutledge et al. (Proc. Natl. Acad. Sci. USA 91, 5436, 1994), we have found that oral administration of all-trans retinoic acid (70 mg/kg body weight) at 5.5 days postcoitum induced the formation of supernumerary limbs. Most often, these arose as a pair of extra buds located caudally and ventrally to the normal (orthotopic) hindlimb buds without duplication of the lower body axis. The resulting one or two supernumerary hindlimbs were connected to an imperfectly mirror-image-duplicated pelvic girdle. Variable truncations of the stylopodium and zeugopodium skeleton, as well as abnormal splitting of the distal skeleton, were frequently observed. The apical ectodermal ridge of the extra limb buds expressed expected growth factor genes. However, an ectopic anterior expression of Sonic hedgehog and Hoxd-13 was seen in the supernumerary buds, suggesting that these buds would incorporate potential polarizing cells of the hindlimb or genital field and generate an ectopic polarizing zone. This is consistent with the reverse orientation of most supernumerary limbs at later stages. Some of the buds did not express limb-specific markers and were thus expected to degenerate or form nonlimb structures, as observed in an adult specimen. Less frequently, extra limb buds with normal polarity were associated to a duplicated lower body axis. Retinoic acid also generated a novel type of duplication in which "twin" hindlimbs with two parallel apical ectodermal ridges and zones of polarizing activity arose on one side of the embryo.

Abnormalities, Drug-Induced↗
PubMed1997

Expression of SV40 large T antigen stimulates reversion of a chromosomal gene duplication in human cells.

Transformation of human cells is characterized by altered cell morphology, frequent karyotypic abnormalities, reduced dependence on growth factors and substrate, and rare "immortalization"-clonal acquisition of unlimited proliferative potential. We previously reported a marked increase in DNA rearrangements, arising between two duplicated segments in a transfected plasmid substrate, for five immortal human cell lines relative to three normal fibroblast strains [Finn et al. (1989) Mol. Cell. Biol. 9, 4009-4017]. We have now assessed reversion of a 14-kilobase-pair duplication within the hypoxanthine phosphoribosyl transferase (HPRT) gene locus, in a fibroblast strain during its normal replicative lifespan and after stable transformation with SV40 large-T antigen. Revertants, selected under HPRT-dependent growth conditions immediately after purging preexisting HPRT+ cells, were confirmed as HPRT+ by hypoxanthine incorporation and 6-thioguanine sensitivity. Southern blot analyses indicate loss from most revertant clones of a restriction fragment representing the duplicated HPRT region, as predicted for homologous recombination between the 14-kilobase-pair repeats. Amplification of a subregion of HPRT mRNA implicated deletion of duplicated exons in 93% of revertant colonies. Reversion to HPRT+ was unaltered during the normal in vitro lifespan of these cells, but increased in 9 clones stably transformed with large-T antigen (mean = 3.8-fold; each P < 10(-5)). Stimulation of HPRT-reversion is abrogated in a variety of T-antigen mutants, and depends on continued induction of T antigen by glucocorticoid in two clones tested 10-30 doublings before replicative senescence. Since no immortal subclones arose from these clones, elevated reversion must precede immortalization. Increased DNA rearrangements, in cells expressing T-antigen, could facilitate the rare concurrence of multiple mutations necessary for immortalization.

Antigens, Polyomavirus Transforming↗
PubMed1997

The duplication cycle in Aspergillus nidulans.

The duplication cycle encompasses the spectrum of events required for the growth and division of individual cells within a fungal hyphae. Recent advances in understanding the mechanisms which underlie nuclear division and cellular morphogenesis in the filamentous fungus Aspergillus nidulans have shown that in many respects, the duplication cycle differs significantly from the cell cycles of both budding and fission yeast. The purpose of this review is to summarize these advances and to highlight the fundamental differences between the duplication cycle and the yeast cell cycles. In addition, it is argued that the duplication cycle is controlled by cellular regulatory networks which integrate the processes of nuclear division, cellular morphogenesis, and cell growth with each other. Functional dissection of these networks should help to reveal features that are unique to the hyphal mode of growth.

Aspergillus nidulans↗
PubMed1998

A partial hprt gene duplication generated by non-homologous recombination in V79 Chinese hamster cells is eliminated by homologous recombination.

Here, the sequence in the hprt gene of the duplication mutant SPD8 originating from V79 Chinese hamster cells was determined. The duplication arose after non-homologous recombination between exon 6 and intron 7, resulting in an extra copy of the 3' portion of exon 6, of exon 7 and of flanking intron regions. Only a duplication of exon 7 is present in the mRNA, since the duplicated exon 6 lacks its 5' splice site and is removed during RNA processing. The findings in this study suggest that the non-homologous recombination mechanism which occurred here may have been initiated by endonucleases, rather than by a spontaneous double strand break. Subsequently, 14 spontaneous SPD8 revertants with a functional hprt gene were isolated and characterized using PCR and sequencing. The data revealed that although the SPD8 cell line arose by non-homologous recombination, it reverts spontaneously by homologous recombination. Interestingly, the downstream copy of exon 7 was restored by this process. This was indicated by the presence of a specific mutation, a T-to-G transversion, close to the breakpoint, a characteristic unique to the SPD8 clone. Our results suggest that the spontaneous reversion of this cell line by homologous recombination may involve an exchange, rather than a conversion mechanism.

Animals↗
PubMed2000

In vivo retroviral integration: fidelity to size of the host DNA duplication might Be reduced when integration occurs near sequences homologous to LTR ends.

Integrated retroviral DNAs are flanked by a short duplication of target DNA whose size is virus specific and invariable. We have sequenced the junctions between an ALSV (Avian Leukemia and Sarcoma Viruses)-based vector and quail DNA from five individual proviruses. Three proviruses were flanked by the expected 6-bp duplication of host DNA, whereas the two others were flanked by a 5-bp duplication. Nucleotide sequencing of the native integration sites of these two proviruses showed that these integrations had occurred at the immediate vicinity of either a CA or a TG dinucleotide, revealing striking microhomologies between the integration sites and viral LTR ends. These results suggest that size duplication of the target DNA might be influenced by nucleotidic sequence at the site of integration.

Animals↗
PubMed1994

Large tandem duplication associated with a Mu2 insertion in Zea mays B-Peru gene.

The b locus of Zea mays encodes a transcriptional activator of the anthocyanin biosynthetic pathway. The B-Peru allele is expressed in the aleurone layer of the seed, which results in dark purple pigmentation of this tissue. An unstable Mutator-induced B-Peru mutant allele, b-Perum220, displays weak, variable pigment and a high germinal reversion rate not characteristic of other Mutator insertions. Characterization of relevant regions of b-Perum220 revealed a Mu2 element insertion in one copy of a 534 bp sequence. This 534 bp sequence is tandemly triplicated in the progenitor B-Peru allele, upstream of the B-Peru transcription start site. In addition to the Mu2 insertion, the b-Perum220 allele contains a newly formed large tandem duplication of 4.0 kb, which includes the promoter region and the first three exons of the B-Peru gene. The Mu2 element does not reside at any of the duplication breakpoints. The molecular study of eleven independent germinal revertants revealed five structural classes including structures in which the 4.0 kb tandem duplication is partially or completely deleted, the Mu2 element is partially or completely deleted, or a combination of these events has occurred. We hypothesize that most of the revertants arose by unequal recombination between the duplicated regions. Based on these structural analyses, models are discussed to explain the reduced b gene expression in b-Perum220.

Alleles↗
PubMed1991

Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

Blotting, Southern↗
PubMed1991

Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

We have characterised by cytogenetic and molecular analysis a de novo tandem duplication of chromosome 21. High resolution chromosome examination of lymphocytes revealed the following karyotype in 90% of the cells: 46,XY,dir dup (21)(pter----q22.300::q11.205----qter). Of these cells, 10% showed a normal karyotype. Gene dosage of chromosome 21 sequences by a slot blot method indicated that the duplication extends from D21S16 to D21S55. In situ hybridization with probes close to the borders of the duplicated segment confirmed the gene dosage data and gave results consistent with a true tandem duplication of chromosome 21. Pulsed field gel electrophoresis of the patient's DNA showed an abnormal restriction band common to D21S55 and D21S16, confirming that the junction point between the two homologous parts of the tandem chromosome brings these two sequences into proximity. Restriction fragment length polymorphism analysis indicated that the abnormal chromosome was maternal in origin and that the rearrangement of chromosome 21 could not have occurred at a post-zygotic stage of development but resulted from a recombination event during maternal gametogenesis. The possible mechanisms of formation of the abnormal chromosome are discussed, as is the presence of cells with normal chromosomes 21, in the patient.

Alleles↗
PubMed1991

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting for the duplication in recombination analysis, we found recombinants between CMT1a and EW301 and EW502, but not with A10-41, VAW409R3, and VAW412R3. Using pulsed-field gel electrophoresis analysis, we estimated the minimal size of the duplicated region in CMT1a patients to be 1100 kb.

Blotting, Southern↗