Showing papers on "Karyotype published in 1986"
TL;DR: A clone that cross-hybridizes with a mouse p53 probe has been isolated from a cDNA library of simian virus 40-transformed human fibroblasts and results show that the human p53 gene is located on chromosome 17.
Abstract: A clone that cross-hybridizes with a mouse p53 probe has been isolated from a cDNA library of simian virus 40-transformed human fibroblasts. This cloned human p53 cDNA was used as a probe to examine DNAs obtained from human-rodent somatic cell hybrids that have segregated human chromosomes. The results show that the human p53 gene is located on chromosome 17. In addition, Southern analysis of hybrids prepared from human cells containing a chromosome 17 translocation allowed regional localization of the human p53 gene to the most distal band on the short arm of this chromosome (17p13). Localization of the p53 gene to 17p13 was confirmed by in situ hybridization of metaphase spreads with the human p53 probe.
353 citations
TL;DR: It is concluded that chromosome analysis is required at diagnosis in patients with ALL, and that children with these specific translocations should be managed as having high-risk ALL.
291 citations
TL;DR: In this paper, a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 was identified in 21 cases and apparently normal chromosomes in the remainder.
Abstract: In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.
282 citations
TL;DR: The results suggest that enhanced expression of EGF receptor in human pancreatic cancer can be associated with either structural or numerical alterations of chromosome 7.
Abstract: Recently, the gene for the epidermal growth factor (EGF) receptor has been mapped to chromosome 7p, the short arm of chromosome 7 [Shimizu, N., Kondo, I., Gamou, M. A., Behzadian, A. & Shimizu, Y. (1984) Somatic Cell Mol. Genet. 10, 45-53]. Utilizing EGF binding in saturation studies, karyology, and cDNA hybridization experiments, we have sought to determine whether there is a correlation between dosage or alteration of chromosome 7 and enhanced expression of EGF receptor in cultured human pancreatic carcinoma cells. Saturation binding studies with 125I-labeled EGF were performed at 4 degrees C with four established human pancreatic cancer cell lines: T3M4, PANC-1, COLO 357, and UACC-462. Analysis of binding data revealed enhanced numbers of EGF receptors in all four cell lines. Chromosome banding analysis revealed clonal structural alterations of chromosome 7p in the cell lines T3M4, PANC-1, and COLO 357, whereas UACC-462 displayed multiple copies of chromosome 7. Hybridization studies using a radiolabeled EGF receptor cDNA probe failed to demonstrate DNA sequence amplification in any cell line but confirmed the presence of EGF receptor mRNA in these cells in approximate proportion to EGF receptor number. Our results suggest that enhanced expression of EGF receptor in human pancreatic cancer can be associated with either structural or numerical alterations of chromosome 7.
201 citations
TL;DR: It is indicated that demonstrable somatic genetic abnormalities increase in severity with clinical progression of melanocytic disease, but additional data are required to establish the significance of specific karyotypic changes (and the involved genes) in the clinical evolution of these disorders.
181 citations
TL;DR: It is shown here that chromosome size polymorphisms are not generated during differentiation of the asexual blood stages, as the molecular karyotype of a cloned parasite line is constant through this part of the life cycle.
170 citations
TL;DR: The chromosome-specific nature of particular multimers was confirmed by Southern blot analyses of a human-rodent hybrid cell panel and it is concluded that L1.26 and L.84, with their related sequences, constitute subfamilies of alphoid DNA that are specific for subsets of chromosomes and, in some cases, possibly even for single chromosomes.
Abstract: We have isolated and characterized two human middle repetitive alphoid DNA fragments, L1.26 and L1.84, which localize to two different sets of chromosomes. In situ hybridization revealed both repeats to have major and minor binding sites on the pericentric regions of several chromosomes. Probe L1.26 maps predominantly to chromosomes 13 and 21. Probe L1.84 locates to chromosome 18. Minor hybridization sites for both probes include chromosomes 2, 8, 9, and 20; in addition, L1.26 revealed minor sites on chromosomes 18 and 22. The binding to these sites strongly depends on hybridization conditions. In Southern blot hybridizations to total human DNA, both L1.26 and L1.84 give the same ladder pattern, with a step size of 170 bp, indicating their presence as tandem repeats, but with different band intensities for each probe. The chromosome-specific nature of particular multimers was confirmed by Southern blot analyses of a human-rodent hybrid cell panel. We conclude that L1.26 and L1.84, with their related sequences, constitute subfamilies of alphoid DNA that are specific for subsets of chromosomes and, in some cases, possibly even for single chromosomes.
166 citations
TL;DR: Two of the patients with CML showed the same genomic change as occurs in Ph′-positive CML, but the change resulted from a mechanism other than chromosomal translocation, while the remaining three patients showed no genomic rearrangement.
Abstract: The Philadelphia chromosome (Ph′) is found in the blood cells of about 90% of patients with chronic myeloid leukaemia (CML) and usually results from the reciprocal chromosome translocation t(9; 22)1,2. This translocation relocates the proto-oncogene c-abl, normally found on chromosome 9q34, to within the breakpoint cluster region (bcr) on chromosome 22qll (refs 3–8). The juxtaposition of c-abl and the 5′ portion of bcr appears to be the critical genomic event in CML and results in a novel 8-kilobase (kb) fused abl/bcr transcript9,10 and a c-abl-related protein of relative molecular mass 210,000 (ref. 11). About 10% of adult patients diagnosed as CML lack the Ph′ chromosome; they represent a heterogeneous group of disorders which are difficult to diagnose precisely12. We have examined five patients with CML whose leukaemic cells have a normal karyotype. We report here that two of the patients showed the same genomic change as occurs in Ph′-positive CML, but the change resulted from a mechanism other than chromosomal translocation. The remaining three patients showed no genomic rearrangement. This genomic diversity correlated with the clinical differences between the patients.
142 citations
TL;DR: It is shown that in addition to double minutes, certain other gross structural abnormalities also are clearly associated with the early evolution of this type of tumor.
141 citations
TL;DR: It is suggested that translocations involving the 12p are specific with respect to only one member of the translocation pair, namely chromosome 12, in children with acute lymphoblastic leukemia whose leukemic marrow karyotypes contained abnormalities involving the short arm of chromosome 12.
121 citations
TL;DR: Twenty known cases of X;autosome translocations with breakpoints at Xp21 associated with Duchenne or Becker muscular dystrophy in girls are reviewed and molecular heterogeneity in the breakpoint positions has been established.
Abstract: Twenty known cases of X;autosome translocations with breakpoints at Xp21 associated with Duchenne or Becker muscular dystrophy in girls are reviewed. The variable severity described for different persons may reflect differences in X inactivation or in the nature of the genomic target disrupted. High resolution cytogenetic studies on 12 cases indicate breakpoints on the X chromosome at Xp21.1 or Xp21.2. Translocation chromosomes from several of these cases have been isolated in human/mouse somatic cell hybrids. Molecular heterogeneity in the breakpoint positions has been established by probing DNA from these hybrids with a range of cloned sequences known to be located within, or closely linked to, the Duchenne region. The minimum separation between the most distal and the most proximal breakpoints is 176 kb suggesting that, if a single gene is involved, it must be large. Alternatively, the translocations may affect different genes, or confer alterations to regulatory sequences which operate at a distance.
TL;DR: Karyomorphology suggests a new systematic arrangement for the Laurales, a new circumscription of theCymbopetalum tribe (Annonaceae), and a placement of theCochlospermaceae/Bixaceae in theViolales.
Abstract: New karyological data are reported ofMagnoliidae, Violales, Malvales and some other orders. These data include for 102 species from 51 genera and 18 families chromosome counts, karyotypes, interphase nuclear structures and banding patterns. Karyomorphology suggests a new systematic arrangement for theLaurales (Fig. 11), a new circumscription of theCymbopetalum tribe (Annonaceae), and a placement of theCochlospermaceae/Bixaceae in theViolales. ForAnnonaceae andMagnoliidae x = 8 is proposed as the original base number. A model based on extant chromosome numbers inAnnonaceae and combining short dysploid series and polyploidization can explain most of the existing numbers in this family and in the otherMagnoliidae (Fig. 16). Special attention is drawn to the role of triploids and other anorthoploids in chromosome number diversification (e.g., inAnnonaceae, Apocynaceae, Proteaceae). Identical polyploid numbers are shown to have originated from different base numbers. The highest chromosome number forMagnoliidae is found inMyristicaceae (Osteophloeum: 2n = 280). Polyploid relic genera frequently exhibit highly differentiated and “diploidized” karyotypes with many structural rearrangements. The step diploid polyploid is correlated in several genera with the invasion from humid to more extreme, often xeric habitats. Polyploidy serves as a crossing barrier in related syntopic species. InAnnonaceae, Cochlospermaceae andMyristicaceae neotropical taxa have a higher polyploidization rate than palaeotropical ones. — Subsequential fluorochrome-and Giemsa C-banding demonstrates the following pattern for tropical woody plants: Chromosomes mostly have neutral (neither AT- nor GC-rich) proximal heterochromatin (= hc), intercalarly and/or terminal bands are rare. In some cases great variation occurs in regard to location and composition of bands between the investigated taxa. Differences concern genera, species groups or species. Diploid karyotypes tend to contain less different hc-types than polyploid ones. NO-chromosomes also exhibit a remarkable banding pattern differentiation. In general, hc-variation is greater in respect to composition than to distribution.
TL;DR: Morphologically unique genomes are useful diagnostic features in genome identification and can complement interpretation of chromosome pairing in genome analysis.
Abstract: Karyotypes were analyzed on 24 diploid taxa (mostly perennials) belonging to eight Triticeae genera, which are defined by genome content (basic set of seven chromosomes): (i) Agropyron (P genome),
TL;DR: Chromosomes of four species of Leishmania represented by ten different geographic isolates were analyzed by pulsed field gradient gel electrophoresis (PFG) to assess chromosome stability in these parasitic protozoans, and the greater similarities of the karyotypes of members of the same LeishMania subspecies may indicate that they represent valid taxa.
Abstract: Chromosomes of four species of Leishmania represented by ten different geographic isolates were analyzed by pulsed field gradient gel electrophoresis (PFG) to assess chromosome stability in these parasitic protozoans. Among different geographic isolates of the same subspecies, more than two-thirds of chromosomes had similar sizes, ethidium bromide staining intensities, and locations of alpha,beta-tubulin genes. However, among New World Leishmania, members of different species or subspecies have fewer than one-third of their chromosomes in common. Therefore, PFG karyotypes of Leishmania exhibit intraspecific variability similar to that reported for other parasitic protozoans. The greater similarities of the karyotypes of members of the same Leishmania subspecies may indicate that they represent valid taxa. These similarities also allowed the use of PFG in clinical diagnosis for rapid and accurate typing of patient isolates.
TL;DR: The chromosome constitution of 22 human preimplantation embryos from donor oocytes fertilized in vitro by donor sperm was studied, finding that these embryos could not be distinguished morphologically from those with normal chromosomes.
Abstract: The chromosome constitution of 22 human preimplantation embryos from donor oocytes fertilized in vitro by donor sperm was studied to assess the contribution of lethal chromosome anomalies to the high failure rate of implantation of in vitro fertilized embryos after embryo transfer in infertile women. Evidence was found of nondisjunction, resulting in trisomy, monosomy, and nullosomy; structural abnormalities; haploidy; and triploidy. Despite the lethality of their chromosome complements, these embryos could not be distinguished morphologically from those with normal chromosomes.
TL;DR: The most common patients with chronic myeloid leukaemia (CML) have a characteristic deletion of a portion of the long arm of one chromosome 22, the Philadelphia (Ph 1) chromosome as discussed by the authors.
TL;DR: A Robertsonian karyotypic polymorphism in the common shrew in the Oxford area, first described in the 1950s, was re-examined and it is proposed that this is a source of selection against the monobrachial hybrids and hence results in an increase in frequency of the acrocentric morphs.
Abstract: A Robertsonian karyotypic polymorphism in the common shrew in the Oxford area, first described in the 1950s, was re-examined. The polymorphism involves chromosome arm combinations kq, no and pr (characteristic of the Oxford karyotypic race), ko (characteristic of the Hermitage karyotypic race) and jl (found in both races). The polymorphism for jl was sporadic along a north--south transect through the Oxford area, with the frequency of the twin-acrocentric morph never exceeding 10%. The frequency of the Oxford race-specific metacentrics decreased and the frequency of the Hermitage race-specific metacentric ko increased from north to south along the transect. At a latitudinal grid reference of about 180 km, there was a high frequency of individuals with chromosome arms k, n, o and q in the ancestral acrocentric state. This was coincident with the area of occurrence of ko--kq and ko--no Oxford--Hermitage hybrids. Such hybrids are double Robertsonian heterozygotes with monobrachial homology and are likely to suffer reduced fertility in consequence. It is proposed that this is a source of selection against the monobrachial hybrids and hence results in an increase in frequency of the acrocentric morphs. This scheme goes some way to explain the clines of polymorphism for arm combinations kq, no and ko, but it is suggested that other selective factors are involved. It cannot explain the cline of polymorphism for pr, which is in general terms similar to that for kq and no, but is more shallow and centred further north.
TL;DR: Analysis of fresh human tumors have indicated that patients with B type lymphoproliferative diseases and the majority of patients with acute lymphoblastic leukemia express elevated levels of p53 production, and it is suggested that in these human malignancies, p53 may provide a novel tool for monitoring cancer activity.
TL;DR: This study shows that the karyotypes of malignant mesothelioma can be analyzed by standard cytogenetic techniques and may help to distinguish primary cytogenetics changes from effects of prior therapy in some of the patients.
TL;DR: The numerical changes have been correlated and compared with the specific structural rearrangements in cancer, and tentative pathogenetic mechanisms whereby numerical aberrations might enhance neoplastic development are discussed.
TL;DR: It is shown that DNA molecules from homologous chromosomes of T.cruzi migrate differently in the PFG system and infer that T. cruzi epimastigotes are at minimum diploid, and all the housekeeping genes studied hybridize to DNA molecules which can be resolved in thePFG system, suggesting that T., cruzi may have no chromosomes larger than a few megabase pairs.
Abstract: Little is known of the number or organization of chromosomes in Trypanosoma cruzi, the protozoan parasite responsible for Chagas' disease in man in the New World. Straightforward cytogenetic analysis is precluded because trypanosome chromosomes fail to condense during the cell cycle. We have size-fractionated the chromosome-sized DNA molecules of representative T. cruzi strains by pulsed field gradient (PFG) gel electrophoresis and located several housekeeping genes by Southern blotting using cDNA probes from the related trypanosome T. brucei. We show that DNA molecules from homologous chromosomes of T. cruzi migrate differently in the PFG system and infer that T. cruzi epimastigotes are at minimum diploid. In contrast to T. brucei, mini-chromosomes are absent in T. cruzi. All the housekeeping genes studied hybridize to DNA molecules which can be resolved in the PFG system, suggesting that T. cruzi may have no chromosomes larger than a few megabase pairs.
TL;DR: A chromosome image analyzing system (CHIAS) developed especially for plant chromosomes that constructs a man-machine interactive system to put researchers' decisions into the analytical process and digitizes the image information of chromosomes and analyzes them.
Abstract: A chromosome image analyzing system (CHIAS) has been developed especially for plant chromosomes. A standard karyotyping method using CHIAS is also described. The characteristics of the CHIAS are as follows: 1) the main objects of the analysis are plant chromosomes, 2) it constructs a man-machine interactive system to put researchers' decisions into the analytical process, 3) it can automate the routine part of an analysis as much as possible, and 4) it digitizes the image information of chromosomes and analyzes them. Software for karyotype analysis of plant chromosomes has been developed. Thus, in the case of rye chromosomes, it is possible to get quantitative data for all chromosomes and a karyogram within 25 min.
TL;DR: Observations suggest that translocation t(10;14)(q24;q11) is specific for T cell neoplasia and that a gene in chromosomal band 10q24, possibly the TdT gene, plays an important role in T cellNeoplasia when its expression or coding sequence is altered by aberrant recombination involving a T cell antigen receptor gene.
TL;DR: The appearance and behavior of the “acentric” X chromosomes show that their centromeres are similarly inactivated and not prematurely divided, and two Bloom syndrome lymphocytes show that this can also happen in monocentric autosomes.
Abstract: The origin and behavior of human dicentric chromosomes are reviewed. Most dicentrics between two nonhomologous or two homologous chromosomes (isodicentrics), which are permanent members of a chromosome complement, probably originate from segregation of an adjacent quadriradial; such configurations are the result of a chromatid translocation between two nonhomologous chromosomes, or they represent an adjacent counterpart of a mitotic chiasma. The segregation of such a quadriradial may also give rise to a cell line monosomic for the chromosome concerned (e.g., a 45, X line). Contrary to the generally held opinion, isodicentrics rarely result from an isolocal break in two chromatids followed by rejoining of sister chromatids. In this case the daughter centromeres go to opposite poles in the next anaphase, and the resulting bridge breaks at a random point. This mechanism, therefore, leads to the formation of an isodicentric chromosome only if the two centromeres are close together, or if one centromere is immediately inactivated. Observations on the origin of dicentrics in Bloom syndrome support these conclusions. One centromere is permanently inactivated in most dicentric chromosomes, and even when the dicentric breaks into two chromosomes, the centromere is not reactivated. The appearance and behavior of the "acentric" X chromosomes show that their centromeres are similarly inactivated and not prematurely divided. Two Bloom syndrome lymphocytes, one with an extra chromosome 2 and the other with an extra chromosome 7, each having an inactivated centromere, show that this can also happen in monocentric autosomes.
TL;DR: Two patients with acute blastic transformation of chronic myeloid leukemia (CML) associated with strikingly elevated platelet counts showed abnormalities of chromosome 3q in addition to the standard Philadelphia (Ph1) chromosome translocation, suggesting 3q21 is the relevant site for a regulatory thrombopoietic gene.
TL;DR: This study provides information on the largest series of karyotyped unfertilized human oocytes published to date and estimates the frequency of aneuploidy may be higher if there is a predisposition to chromosome loss during oogenesis.
Abstract: Unfertilized human oocytes were obtained from women in an in-vitro fertilization programme. The women had a mean age of 29.4 years (range 24-35 years). Chromosomal complements could be analysed in 50 oocytes. Q-banding of the chromosomes facilitated identification of individual chromosomes: 34 oocytes (68%) had the normal haploid chromosomal complement, 14 complements were hypohaploid (28%), 1 complement was hyperhaploid (2%) and 2 had structural abnormalities (4%). (One oocyte had numerical and structural abnormalities). The 16 abnormal oocytes were obtained from 15 different women. A conservative estimate of aneuploidy in this sample is 4%; however, the frequency of aneuploidy may be higher if there is a predisposition to chromosome loss during oogenesis. This study provides information on the largest series of karyotyped unfertilized human oocytes published to date.
TL;DR: It is suggested that the occurrence of self‐incompatibility in the Hawaiian Madiinae may have favored selection of supergenes via chromosomal repatterning, and this may account for the diversity of chromosome structure seen in this group.
Abstract: The Hawaiian silversword alliance of Argyroxiphium, Dubautia, and Wilkesia, in spite of exhibiting spectacular morphological, ecological, physiological, and chromosomal diversity, is remarkably cohesive, genetically. This is attested to by the ease of production of artificial hybrids and by the high frequency of spontaneous hybridization among such life forms as mat-forming subshrub, monocarpic rosette shrub, polycarpic shrub, cushion plant, tree, and vine. Even the least fertile of these hybrids is capable of producing backcross progeny. Moreover, first generation interspecific and intergeneric hybrids have been successfully used to produce trispecific hybrids in a number of instances. In general, the widest hybrid combinations have been as readily produced as crosses within a species. At present eight genomes or chromosome races distinguished by reciprocal translocations are recognized on the basis of meiotic analysis of artificial and spontaneous hybrids. Seven of these races are found among those species with 14 pairs of chromosomes. The eighth genome very likely characterizes all nine species of this alliance that have 13 pairs of chromosomes. The cytogenetic data indicate that redundancy of translocations involving the same chromosomes has been a recurrent theme in the chromosomal differentiation of these taxa. There appears to be little, if any, correlation between chromosomal evolution and adaptive radiation as assessed by gross habital differentiation in this group. However, within Dubautia, a novel ecophysiological trait associated with colonization of xeric habitats is restricted to species with n = 13. In contrast to the bulk of the Hawaiian flora, which is characterized by self-compatibility and chromosomal stability, it is suggested that the occurrence of self-incompatibility in the Hawaiian Madiinae may have favored selection of supergenes via chromosomal repatterning, and this may account for the diversity of chromosome structure seen in this group.
TL;DR: Interestingly, in all of them erbB-specific mRNA was found to be increased at levels even higher than expected from the number of chromosomes 7 found, and in an astrocytoma of slightly lower grade of malignancy (cell line T567), neither polysomy 7 nor significant expression of the erb B oncogene was noted.
Abstract: Chromosome analysis in a series of human glioblastoma cell lines (HeRo, HeRo-SV1, A172, T406, T508, T705) has indicated characteristic changes in the karyotype, the most striking and consistent of which is a significant increase in the copy number of chromosome 7, with up to 8 copies per metaphase. As determined by Spurr et al., chromosome 7 represents the genomic locus for the oncogene erbB (7pter-q22). Therefore, we have compared the number of chromosomes 7 to the levels of expression of the erbB oncogene. Interestingly, in all of them erbB-specific mRNA was found to be increased at levels even higher than expected from the number of chromosomes 7 found. In contrast, in an astrocytoma of slightly lower grade of malignancy (cell line T567), neither polysomy 7 nor significant expression of the erbB oncogene was noted.