Showing papers on "Chromosome 22 published in 1973"
TL;DR: An unsuspected abnormality in all cells from the nine patients with chronic myelogenous leukaemia has been detected with quinacrine fluorescence and various Giemsa staining techniques, suggesting that there may be a hitherto undetected translocation between the long arm of 22 and thelong arm of 9, producing the 9q+ chromosome.
Abstract: CELLS from nine consecutive patients with chronic myelogenous leukaemia (CML) have been analysed with quinacrine fluorescence and various Giemsa staining techniques. The Philadelphia (Ph1) chromosome in all nine patients represents a deletion of the long arm of chromosome 22 (22q−)1,2. An unsuspected abnormality in all cells from the nine patients has been detected with these new staining techniques. It consists of the addition of dully fluorescing material to the end of the long arm of one chromosome 9 (9q+). In Giemsa-stained preparations, this material appears as an additional faint terminal band in one chromosome 9. The amount of additional material is approximately equal to the amount missing from the Ph1 (22q−) chromosome, suggesting that there may be a hitherto undetected translocation between the long arm of 22 and the long arm of 9, producing the 9q+ chromosome.
4,103 citations
TL;DR: The chromosomes of two human males were identified by fluorescent banding, restained, and measured by scanning microscopy and computer analysis and the two variables, DNA content and DNA-based centromeric index, provided almost complete discrimination of chromosome types.
Abstract: The chromosomes of two human males were identified by fluorescent banding, restained, and measured by scanning microscopy and computer analysis. The two variables, DNA content and DNA-based centromeric index, provided almost complete discrimination of chromosome types. Some chromosomes showed significant differences in DNA content between the men, and for one man two pairs of chromosomes showed significant differences between homologs.
200 citations
TL;DR: Evidence that heterochromatic X and Y chromosomes can slow down the mitotic cycle of cells in culture is presented and it is proposed that some of the effects extraX and Y chromosome have on the phenotype may be related to a reduced rate of cell division during development.
Abstract: The effects of supernumerary X and Y chromosomes on various traits that can be quantitatively measured are summarised: these traits include dermatoglyphics, intelligence, birthweight, height and immunoglobulin levels. Evidence that heterochromatic X and Y chromosomes can slow down the mitotic cycle of cells in culture is presented. It is proposed that some of the effects extra X and Y chromosome have on the phenotype may be related to a reduced rate of cell division during development.
101 citations
TL;DR: Subclones of this line indicate that the loci for PGD and PGM1 are situated on the short arm or proximal part of the long arm of 1 and the locus for Pep-C on the longArm of 1, which places the PGD loci on chromosome 6.
Abstract: About 75 man-Chinese hamster hybrid clones were analysed for their human chromosome complement and simultaneously tested for human enzyme markers. Correlation of the presence of chromosomes and enzyme activity revealed assignments of the PGD linkage group to chromosome 1, ME1, PGM3 and IPO-B to 6, LDH-A to 11, LDH-B to 12 and IPO-A to 21.
97 citations
TL;DR: The range of chromosome number and structure observed in established cultures strongly points to the origin of these changes during culture, and the precise distribution of chromosomes at mitotic anaphase seems the most likely point at which instability could be induced in culture.
Abstract: CULTURED cells of both animal and plant tissues are characterised by instability of chromosome number and structure1,2. Although there is evidence3 that polyploid plant cell lines may arise from endoreduplicated nuclei in the original explant, the range of chromosome number and structure observed in established cultures strongly points to the origin of these changes during culture. Since the precise distribution of chromosomes at mitotic anaphase is the essential prerequisite for chromosome number stability5, this seems the most likely point at which instability could be induced in culture. It has been shown6,7 that, in culture, animal cells of various species are characterised by the presence of multipolar mitoses, a feature which would produce daughter nuclei with aneuploid chromosome numbers. Such multipolar mitoses have been briefly noted for plant tissue cultures8,9 but their frequencies have not been quantified.
92 citations
TL;DR: An indirect approach to elucidating causative factors involves determining the number of cells from which chronic myelocytic leukemia arises, and single-cell (clonal) origin would be .
Abstract: BONE-marrow cells from the majority of patients with chronic myelocytic leukemia have a specific and characteristic aberration of chromosome 22, called the Philadelphia (Ph1) chromosome.1 This abnormality, which may be found even before the onset of overt leukemia,2 is present throughout the course of clinical disease. Although the Ph1 chromosome probably is important in the pathogenesis of the disease the primary causes (which presumably are also the factors inducing the chromosome abnormality) remain largely unknown. An indirect approach to elucidating causative factors involves determining the number of cells from which chronic myelocytic leukemia arises. Single-cell (clonal) origin would be . . .
75 citations
58 citations
TL;DR: Thirty-seven clones of somatic cell hybrids between human and mouse cells were examined for retention of human chromosomes and expression of human constitutive enzymes, and human glucosephosphate isomerase and chromosome F-19 were retained or lost concordantly.
Abstract: Thirty-seven clones of somatic cell hybrids between human and mouse cells were examined for retention of human chromosomes and expression of human constitutive enzymes. Human glucosephosphate isomerase and chromosome F-19 were retained or lost concordantly, as were human mannosephosphate isomerase and chromosome C-7. The genes for the enzymes are thus assigned to these two chromosomes.
53 citations
51 citations
TL;DR: In this study 12 different chromosomes could be distinguished by their C-banding, and these can be used as normal chromosome markers and appear to be a simple inherited polymorphism.
Abstract: The mitotic chromosomes of several inbred strains of mice and a series of F1 hybrids have been analyzed by quinacrine staining and further characterized by the centromeric heterochromatin banding (C-banding). Inbred strains had the same amount of C-banding material on homologous chromosomes but showed variation in the amount on different chromosomes. F1 hybrids showed characteristics of each parent and it appears that the amount of C-banding on each chromosome is a simple inherited polymorphism. In this study 12 different chromosomes could be distinguished by their C-banding, and these can be used as normal chromosome markers.
45 citations
TL;DR: The chromosome banding pattern has been analyzed in clones of male and female golden hamster cells independently transformed by polyoma virus and tumors derived from these cells, and indicates that genes of expression of malignancy in these cells were located on chromosome 56 and that genes for suppression ofmalignancywere located on a piece of chromosome 53 and on chromosome 72.
Abstract: The chromosome banding pattern has been analyzed in clones of male and female golden hamster cells independently transformed by polyoma virus and tumors derived from these cells. All the tumors showed either a loss of a piece of chromosome 53 or a gain of a piece or a whole chromosome of 56. An additional 72 chromosome in one line of transformed cells was lost in the tumors derived from this line. The results support our gene balance model of malignancy and indicate that genes of expression of malignancy in these cells were located on chromosome 56 and that genes for suppression of malignancy were located on a piece of chromosome 53 and on chromosome 72. All transformed lines and their tumors showed a loss of a piece of one or both × chromosomes in male and female cells, respectively. This loss of a piece of X chromosome was also found in non-malignant revertants from polyoma-transformed cells, so that this change in the X chromosome was not specific for malignant cells.
TL;DR: Using quinacrine fluorescence and Giemsa banding techniques, an extra chromosome 22 is identified in three non-mongoloid children with similar phenotypes and 47 chromosomes that must have arisen from a rearrangement in a parental gamete.
Abstract: Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q—chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype. No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding.
TL;DR: It is concluded that mei-S282(+) is a defect which occurs early in meiosis I prior to the time of exchange, and is an exchange precondition necessary for the normal frequency and distribution of exchanges.
Abstract: mei-S282 is a female meiotic mutant isolated from a natural population of Drosophila melanogaster . It is a recessive mutation located at approximately map position 5 on the third chromosome which has two major effects. It causes a nonuniform decrease in recombination which is most drastic in distal chromosome regions and nondisjunction of all chromosome pairs is elevated at the first meiotic division. Nondisjunctional events are positively correlated; furthermore, nondisjoining chromosomes, themselves nonrecombinant, are preferentially recovered from cells in which nonhomologs are preferentially recovered from cells in which nonhomologs are also non-recombinant.—It is concluded that mei-S282 is a defect which occurs early in meiosis I prior to the time of exchange. In the mutant, the frequency of no-exchange tetrads for each of the major chromosomes is increased—and in cells which contain two or more no-exchange tetrads, an interaction between these chromosomes leads to correlated nondisjunction. mei-S282 + then, is an exchange precondition necessary for the normal frequency and distribution of exchanges.
TL;DR: The modal chromosome number of the HeLa HEI was determined as 71, about 80% of these chromosomes are intact normal human chromosomes, judging from their banding patterns, and up to 18 marker chromosomes were found.
Abstract: The modal chromosome number of the HeLa HEI was determined as 71. About 80% of these chromosomes are intact normal human chromosomes, judging from their banding patterns. Up to 18 marker chromosomes were found. The composition of several of them was elucidated. If the chromosome constitution of the HeLa is calculated including the analyzed markers, most chromosomes are present in 3 copies per cell. Chromosome No. 8 is present only in one copy per cell whereas there are usually 4 copies of chromosome No. 9. The late 3H-thymidine incorporation patterns of the apparently normal chromosomes of the HeLa cells are identical to those of normal cells. However, the incorporation rates of the secondary constrictions of chromosomes Nos. 1 and 9 are strikingly enhanced in contrast to normal blood cultures. Typical late replication patterns are also observed in the marker chromosomes. The replication patterns of identifiable normal segments of the markers are no different from the corresponding segments of normal chromosomes.
TL;DR: Detailed analysis of the A 9 chromosomes in one hybrid line showed very few changes in comparison with the chromosome constitution of the average A g cell.
Abstract: SUMMARY Chromosome studies were done on 18 somatic hybrid cell lines produced by fusing cells of the mouse A 9 line with cells of the human Daudi lymphoblastoid line derived from a patient with Burkitt's lymphoma. The human chromosomes were identified by their quinacrine fluorescent banding patterns. In one hybrid line the human chromosomes were identified also by the centromeric heterochromatin staining technique. Every human chromosome was identified in one or more of the hybrid lines. Some lines were homogeneous in terms of their human chromosome content, while others were quite heterogeneous. Detailed analysis of the A 9 chromosomes in one hybrid line showed very few changes in comparison with the chromosome constitution of the average A g cell.
TL;DR: Evidence of spontaneous n+1 aneuploidy has been obtained by trisomic segregation analysis of four independently maintained stocks of Saccharomyces cerevisiae defective in saturated fatty acid synthesis (fas1).
Abstract: Evidence of spontaneous n+1 aneuploidy has been obtained by trisomic segregation analysis of four independently maintained stocks of Saccharomyces cerevisiae defective in saturated fatty acid synthesis (fas1). In all cases tested, only the chromosome bearing the mutant fatty acid locus was disomic. Tetrad analysis of trisomic hybrids enabled the identification of chromosome XI as the one bearing the fatty acid locus and the assignment of fragment 5 to chromosome XI. Statistical analysis of tetrad frequencies generated by markers in triplex configuration provided information on the meiotic configuration of pairing of the three homologous chromosomes. The possible relationship between defective nuclear membranes and the disjunction of chromosomes in fas1 strains is discussed.
TL;DR: Genetic crosses between mutants defective in the known pre-early genes of T5 and BF23 and the detection of putative N-terminal fragments have allowed the determination of the order of genes along the initially transferred 8% section of DNA of these phages.
Abstract: Genetic crosses between mutants defective in the known pre-early genes of T5 and BF23 and the detection of putative N-terminal fragments have allowed the determination of the order of genes along the initially transferred 8% section of DNA of these phages.
TL;DR: There is a susceptibility for breakage of the long arms of the number 9 chromosome at the junction of the heterochromatin and euchromatin area closest to the centromere in a male infant observed with a complex of clinical abnormalities.
Abstract: A male infant was observed with a complex of un usual clinical abnormalities. Chromosomal studies revealed that the child was mosaic for a chromosomal fragment from the long arms of a number 9 chromosome. The majority of cells contained 46 chromosomes with a partially deleted number 9 chromosome and a chromosomal fragment. From these data and others repor ted, it would appear that there is a susceptibility for breakage of the long arms of the number 9 chromosome at the junction of the heterochromatin and euchromatin area closest to the centromere. The lymphocytes from this child are capable of transformation into long-term lymphocyte cultures, and after many months in culture the chromosomal fragment has replicated in the cultured cells even though it contained no detectable centromere.
TL;DR: The results suggest the following gene sequence on chromosome A1: 6 PGD, PGM1 ( on the short arm), Pep C (on the long arm) may be associated with human-Chinese hamster hybrid cell line.
Abstract: A human-Chinese hamster hybrid cell line was treated with X-rays and subsequently cloned. In two clones, segregation between three markers assigned to the human A1 chromosome (6-phosphogluconate dehydrogenase, phosphoglucomutase 1 and peptidase C) was found. Chromosome analysis revealed an aberrated human A1 chromosome in both clones. The results suggest the following gene sequence on chromosome A1: 6 PGD, PGM1 (on the short arm), Pep C (on the long arm).
TL;DR: Cytogenetic analysis shows that the human gene loci PGM(1) and 6PGD are located on the short arm of chromosome one distal to the break point, while Pep C lies elsewhere on the chromosome.
Abstract: The human gene loci phosphoglucomutase1 (PGM1, EC 2.7.5.1) and 6-phosphogluconate dehydrogenase (6PGD, EC 1.1.1.43), which are located on human chromosome one, have been assigned to a specific region of the short arm of that chromosome, by use of a hybrid cell line derived from a Chinese hamster cell line deficient in hypoxanthine phosphoribosyl transferase and a strain of human diploid fibroblasts. Cytogenetic analysis of a hybrid clone maintained for about 50 generations in vitro revealed two populations of cells, the first containing a human chromosome one with a break point at band 1p33, such that about 25% of the short arm of this chromosome was deleted. The second cell population contained a normal chromosome one. Biochemical analysis of subclones derived by cloning this mixed population revealed two phenotypic classes, one of which expressed all three chromosome-one markers, PGM1, 6PGD, and peptidase C (Pep C), while the other expressed only Pep C. Cytogenetic analysis showed that the subclones expressing all three markers carried the normal human chromosome one, while those expressing only Pep C carried the deleted chromosome. These data indicate that the human gene loci PGM1 and 6PGD are located on the short arm of chromosome one distal to the break point, while Pep C lies elsewhere on the chromosome.
TL;DR: The findings obtained in this study lead to the hypothesis that delta may be produced by a chromosomal gene (Da) and transmitted extrachromosomally.
Abstract: [Delta b], symbolized as [δb], is retained by Sb chromosome lines and transmitted through the females to their progeny. Transmission through the males is not directly demonstrable (Minamori 1969a). [delta r], symbolized as [δr], is retained by Sr chromosome lines and transmitted biparentally (Minamori 1971). The multiplication of delta is suppressed at low temperature. All descendant lines derived from Sb-carrying or Sr-carrying flies in which the presence of delta cannot be demonstrated gradually accumulate their specific delta factors over many generations (Minamori 1969b, 1972). The delta factors and the sensitive chromosomes are inseparably associated. This observation led to the assumption that delta may be a copy of a chromosomal gene or a certain agent integrated into the chromosome (Minamori 1972). This assumption was examined in the present study by experiments designed to induce delta-retaining sensitive chromosomes, and to map the gene(s) responsible for delta-retention and/or for sensitivity to the killing action of delta factor. One sensitive chromosome which retained [δb] (Sb chromosome) was obtained in the presence of [δb] out of 2492 insensitive chromosomes which retained no delta; in addition one Sb chromosome was obtained in the presence of [δr] out of 2131 insensitives. The latter finding suggests that Sb might be induced by a mutation caused by [δb] or [δr], but not by integration of either delta into the chromosome. Four Sb chromosomes and one sensitive chromosome which retained [δr] (Sr chromosome) were obtained out of 1970 insensitives when males carrying the chromosome were fed an alkylating mutagen, ethyl methane sulfonate (EMS). The location of delta-retaining genes was examined by crossing-over experiments employing eight Sb and five Sr chromosomes. The genes on these chromosomes were found to be located in the same region or near one another. The gene for [δb], symbolized as Dab, and the gene for [δr], symbolized as Dar, are assumed to be multiple alleles of a locus at 2-24.9. The sensitivity of the chromosomes was modified appreciably by recombination; hence, the genes controlling this trait are assumed to be a polygenic system. The findings obtained in this study lead to the hypothesis that delta may be produced by a chromosomal gene (Da) and transmitted extrachromosomally.
TL;DR: Analysis of two normal males and an XYY individual revealed no evidence to support the contention that the Y chromosome consistently assumes a peripheral location in metaphase cells.
Abstract: It has been reported that the Y chromosome consistently assumes a peripheral location in metaphase cells. Analysis of two normal males and an XYY individual revealed no evidence to support this contention.
01 Jan 1973
TL;DR: The gist of the method is to produce a banding pattern over the chromosome observable by fluorescence techniques — by binding certain fluorochromes to chromosomal constituents.
Abstract: Recently considerable attention has been focused on the application of fluores-cence procedures to the problem of chromosome identification in mammals, particularly in man. Although the methods are not much more than two years old, a great number of laboratories are using them for medical and/or general cell-biological purposes. This may be considered a very good illustration of what quantitative fluorescence work — the central theme of this meeting — can contribute to different fields in biology and medicine. This whole field rests on microfluorometric measurements, which also provided the necessary basis for the now well established system used for identification of the human karyotype. The gist of the method is to produce a banding pattern over the chromosome observable by fluorescence techniques — by binding certain fluorochromes to chromosomal constituents.
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TL;DR: 4 cases of “? chromosome abnormality”, referred to this department in the past 3 months, have shown an aberrant complement of chromosome 18.
Abstract: 4 cases of “? chromosome abnormality”, referred to this department in the past 3 months, have shown an aberrant complement of chromosome 18. Chromosome 18 has been identified using a modification of Seabright's (1971) method of banding human chromosomes.