Showing papers on "Karyotype published in 1980"
TL;DR: A cytogenetic study performed on a population of the South American leptodactylid frog Eleutherodactylus maussi revealed multiple sex chromosomes of the X1X1X2X2♀/X1 X2Y♂ (=XXAA/XXAY♂) type, which is interpreted as the ancestral condition, preceding the occurrence of the Y-autosome fusion.
Abstract: Highly differentiated heteromorphic sex chromosomes were found in the karyotypes of Pyxicephalus adspersus (= Rana adspersa) and analysed with the various banding methods. The W chromosome is considerably smaller than the Z chromosome and consists to a great proportion of constitutive heterochromatin. The chromosome lengths and the DNA content of this species have the lowest values determined in the Ranidae to date. The nucleolus organizer regions in the chromosomes reveal a high frequency of inter-individual variations (duplications, triplications) and aberrations. In one female animal, a translocation between the W chromosome and a nucleolus organizer was identified. Preliminary results indicate, that the same chromosome pair which in P. adspersus constitutes the heteromorphic sex chromosomes is still in an initial stage of morphological differentiation in P. delalandii. Although the ZZ/ZW sex chromosomes in Pyxicephalus have developed independently of the ZZ/ZW sex chromosomes in birds and reptiles, they seemed to have passed through identical stages of morphological differentiation. In this process, the heterochromatinization of the W chromosome had a decisive function.
498 citations
452 citations
TL;DR: The chromosomes of 26 species of Anura from variously highly evolved groups were analysed with the fluorescent GC-specific antibiotics mithramycin and chromomycin A3 as well as with the AT-specific quinacrine to identify the various chromatin types in the anuran chromosomes.
Abstract: The chromosomes of 26 species of Anura from variously highly envolved groups were analysed with the fluorescent GC-specific antibiotics mithramycin and chromomycin A3 as well as with the AT-specific quinacrine. The mithramycin- and chromomycin A3-stainings generally resulted in a pattern of the constitutive heterochromatin opposite to the one obtained with quinacrine stain. The weaker a heterochromatic region fluoresces with quinacrine, the stronger is the intensity of the fluorescence achieved with mithramycin and chromomycin A3. Some of the telomeric and interstitial heterochromatic regions, however, exhibit no enhanced fluorescence with any of the fluorochromes. The nucleolar constrictions of the nucleolus organizer regions (NORs) displayed the brightest mithramycin- and chromomycin A3-fluorescence in the karyotypes and interphase nuclei of all species examined. The contrast of the brightly fluorescing GC-rich heterochromatin and of the NORs is considerably enhanced, when the non-fluorescent AT-specific oligopeptide distamycin A is employed as a counterstain. No banding patterns were observed with the fluorochromes in the euchromatic regions of the metaphase chromosomes; this attributed to the strong spiralization of the anuran chromosomes. A cytochemical classification of the various chromatin types in the anuran chromosomes is discussed on the basis of the differential labelings found on the constitutive heterochromatin by means of the fluorochromes.
268 citations
TL;DR: Preliminary tests with two species of the genus Cephalanthera show that Giemsa banding is also well suited for orchids and should prove valuable in studies of chromosomal variation and karyotype evolution of this large family.
Abstract: A method for obtaining orchid chromosome squash preparations from ovular tissues and a Giemsa C-band technique are described. Jointly applied, they result in well-defined chromosome banding patterns. Preliminary tests with two species of the genusCephalanthera show that Giemsa banding is also well suited for orchids. Besides aiding in chromosome identification and karyotype analysis, it should prove valuable in studies of chromosomal variation and karyotype evolution of this large family.
220 citations
TL;DR: Peripheral blood lymphocytes from 11 patients with chronic lymphocytic leukemia were stimulated by Epstein-Barr virus, lipopolysaccharide from Escherichia, LPS, and phytohemagglutinin and revealed a normal karyotype, with the exception of a total of 4 metaphases in 3 patients.
203 citations
174 citations
TL;DR: R-banding of lymphocytes and fibroblasts from 11 patients with ataxia telangiectasia showed rearrangements of chromosomes 7 and/or 14 in about 7% of the cells, and pericentric inversion of chromosome 7 was the most frequent, and the paracentric inversions of chromosome 14 not very rare.
Abstract: The R-banding of more than 1100 lymphocytes and fibroblasts from 11 patients with ataxia telangiectasia (AT) showed rearrangements of chromosomes 7 and/or 14 in about 7% of the cells. Among these rearrangements, pericentric inversion of chromosome 7 was the most frequent, and the paracentric inversion of chromosome 14 not very rare. These inversions are believed to be fairly specific of AT, and their absence in the previously reported literature may be due to technical problems. Inversions were also observed in the lymphocytes of presumed heterozygote carriers with a lower frequency, and may be of some help for the detection of healthy heterozygote carriers of the AT gene.
166 citations
TL;DR: Within‐species karyotype variation is relatively common in aphids, and instances of structural heterozygosity are particularly numerous in species and groups which have partially or completely abandoned the sexual phase of the life cycle in favour of permanent thelytoky.
Abstract: . Diploid female chromosome numbers are listed for 180 aphid species not previously karyotyped. The list includes the first chromosome records for several aphid tribes (Tramini, Greenideini, Anomalaphidini, Nippon-aphidini). Variation in chromosome number at different systematic levels is discussed. Usually the karyotype is particularly stable within a genus, but there are notable exceptions (e.g. Amphorophora) where considerable evolutionary increase in chromosome number has occurred by autosome dissociation with little accompanying morphological change. In several genera differences in gross chromosome morphology can be useful to the taxonomist. Within-species karyotype variation is relatively common in aphids, and instances of structural heterozygosity are particularly numerous in species and groups which have partially or completely abandoned the sexual phase of the life cycle in favour of permanent thelytoky.
120 citations
TL;DR: The fine structure and genetic organization of the chromosomes of man and chimpanzee are so similar that it is difficult to account for their phenotypic differences as mentioned in this paper, which is the case for both humans and chimpanzees.
Abstract: The fine structure and genetic organization of the chromosomes of man and chimpanzee are so similar that it is difficult to account for their phenotypic differences.
109 citations
TL;DR: A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y, a finding consistent with the view that testis-determining genes of the Y chromosome may be suppressed by regulatory elements of the X.
Abstract: A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y. Prenatal chromosome studies in a later pregnancy indicated the same chromosomal abnormality in the fetus. The fetus and proband had normal female genitalia and ovarian tissue. H--Y antigen was virtually absent in both sibs, a finding consistent with the view that testis-determining genes of the Y chromosome may be suppressed by regulatory elements of the X. The abnormal X chromosome was present in the mother, the maternal grandmother, and a female sib: all were phenotypically normal and showed the karyotype 46,Xdup(X)(p21 leads to pter) with non-random inactivation of the abnormal X. Anomalous segregation of the Xga allele suggests that the Xg locus was involved in the inactivation process or that crossing-over at meiosis occurred.
102 citations
01 Jan 1980
TL;DR: Findings in cytogenetic studies of direct tumor preparations from 18 non-African Burkitt lymphoma patients, 9 of whom also had cell lines available for study are reported, finding a t(8;14) was found in direct tumor material in 10 of the 18 patients.
Journal Article•
TL;DR: Banding analysis of PC-5-PI isolated from primary prostatic adenocarcinoma indicated that this line also had a characteristic karyotype with 28% pseudodiploid and 72% pseudotetraploid components.
Abstract: Although detailed cytogenetic analysis has been carried out in many types of cancer, there is little information on the chromosomal makeup of prostatic cancer cells. Karyological analyses of cell lines derived from both metastatic and primary prostatic carcinoma have been carried out by Q-, C-, and sequential banding techniques. The metastatic line, PC-3, isolated from a bone marrow specimen, is an established epithelial line which is tumorigenic in nude, athymic mice and forms colonies in semisolid agar suspension. A subline, PC-3/M, was isolated from a PC-3-induced mouse tumor. Karyotypic analysis of PC-3 by Q- and C-banding showed the cells to be aneuploid at all culture passage levels. The modal chromosome number shifted from 62 to 55 between the 5th and 50th passages. PC-3 has a unique karyotype. Chromosomes 2, 3, 5, 15, and Y were always absent. At least 11 different marker chromosomes were observed. The subline, PC-3/M, had a similar karyotype and retained the parental PC-3 markers. PC-3/M had a more restricted chromosomal frequency distribution range. Nearly 73% of the PC-3/M cells examined had 60 or 61 chromosomes in contrast to the wide distribution seen in PC-3. Silver staining for nucleolus organizer regions indicated that the number of functional nucleolus organizer regions in PC-3 was proportional to the number of acrocentric chromosomes. Banding analysis of PC-5-PI isolated from primary prostatic adenocarcinoma indicated that this line also had a characteristic karyotype with 28% pseudodiploid and 72% pseudotetraploid components. All metaphases examined were partially trisomic in chromosome 9 and lacked a demonstrable Y chromosome.
TL;DR: Data indicate that the undifferentiated P10 embryonal carcinoma cells contain two active X chromosomes, apparently X chromosome inactivation accompanies the differentiation of these female embryonal cancer cells.
TL;DR: This study demonstrates the usefulness of intraspecies somatic cell hybrids for mapping purposes as the overall karyotypic stability of such hybrids allows the identification of specific chromosomes eliminated by selection pressure.
TL;DR: The data obtained suggest a mechanism of multiple sex chromosomes of the ZZ/ZW1W2 type, where chromosome Z may be number 1 in the complement and chromosomes W1 and W2 are morphologically undifferentiated.
Abstract: The karyotype of the fish Apereiodon affinis shows 2n = 54 chromosomes for the male and 2n = 55 chromosomes for the female. The data obtained suggest a mechanism of multiple sex chromosomes of the ...
TL;DR: G-banding has facilitated the demonstration of a simple pericentric inversion distinguishing the Z and W chromosomes in Acrantophis dumereli, which represents the first report of differentiated sex chromosomes in a boid snake.
Abstract: G and C-chromosome banding techniques have been used to compare the structure of the karyotype in a variety of colubrid and boid snakes. The comparison of G-band patterns indicates that while some band sequences have been conserved, either as whole chromosomes or entire arms, there is also evidence of considerable rearrangement especially in the smaller chromosomes. In the colubrid Elaphe subocularis there is also evidence that there has been a relocation of the centromere on chromosome 2 without any accompanying inversion in the sequence of G-bands. Finally, G-banding has facilitated the demonstration of a simple pericentric inversion distinguishing the Z and W chromosomes in Acrantophis dumereli. This represents the first report of differentiated sex chromosomes in a boid snake. The combined banding data thus indicates that snake chromosomes are certainly not lacking in variability. The use of C-banding to detect constitutive heterochromatin has confirmed that in some boids and colubrids macrochromosomes have been derived from microchromosomes by the additions of heterochromatin.
TL;DR: An identical chromosome abnormality was observed in three unrelated patients with myelofibrosis and myeloid metaplasia, two of the patients showing a history of polycythaemia vera (PV) before development of the myel ofibrosis.
Abstract: An identical chromosome abnormality was observed in three unrelated patients with meylofibrosis and myeloid metaplasia, two of the patients showing a history of polycythaemia vera (PV) before development of the myelofibrosis Unstimulated peripheral blood cultures showed a translocation between chromosomes 1 and 7 replacing a homologue of pair 7 It was identified by G- and C-banding as t(1;7)(7pter leads to 7p11::1p1? leads to 1qter) While the first patient also showed trisomy 21 and the third patient had some extra material on the short arm of chromosome 17, all three had trisomy 1q and monosomy 7q Although each of these abnormalities is frequently observed separately in various haematological disorders, the combination of the two in the form of an identical translocation in three patients is an example of induced non-random cytogenetic change in myelofibrosis
TL;DR: The results of C-banding and olivomycin fluorescent banding suggest that at least three types of heterochromatin are contained in the porcine genome.
Abstract: Various banding techniques have been used for chromosome analysis in domestic pigs (Sus scrofa domestica). The techniques used in karyotype analysis were Q-banding by (CMA)2S, trypsin-G-banding, BrdU-Acridine-Orange R-Banding and C-banding. Sequential staining techniques of quinacrine-Giemsa were used to record the length of each chromosome and determine arm ratios. Sequential Quinacrine-Giemsa-Ag-AS treatment was used to locate the nucleolar organizer (NOR) on specific chromosomes. A G-C specific fluorochrome was used for reverse fluorescent banding and to differentiate certain chromosome regions which may contain G+C rich DNA. Unequivocal identification of all individual autosomes and sex-chromosomes in the porcine complement is now possible. The X-chromosome of the species has a banding pattern similar to the human X-chromosome. A nomenclature system similar to that used for human chromosomes is proposed for the G-banded and Q-banded karyotype of the domestic pig. The results of C-banding and olivomyci...
TL;DR: The results indicate that the breakpoint on the mouse X chromosome (in band XD) has separated the genes for HPRT (Hprt) and for GALA (Ags), and the gene order in the mouse (centromere-HPRt-Ags) is inverted when compared to the order of the homologous loci on the long arm of the human X.
Abstract: For comparative studies we have used the somatic cell hybridization approach to regionally map genes on the mouse X chromosome. Fibroblasts from a mouse with the balanced reciprocal translocation T(XD;16B5)16H were fused with a Chinese hamster cell line (V79/380-6) deficient in activity of the enzyme hypoxanthine phosphoribosyltransferase (HPRT). Interpecific cell hybrids were initially selected for retention of the mouse translocation chromosome carrying the Hprt gene. Subsequently, hybrid clones were counterselected to force segregation of this chromosome. Selected and counterselected hybrid clones were analyzed for their chromosome content by trypsin/Giemsa banding and for expression of the mouse forms of the X-linked enzymes HPRT and alpha-galactosidase (GALA) by isoelectric focusing. The results indicate that the breakpoint on the mouse X chromosome (in band XD) has separated the genes for HPRT (Hprt) and for GALA (Ags). Hprt is proximal to the breakpoint in region Xcen-XD and Ags is distal in region XD-Xter. The gene order in the mouse (centromere-Hprt-Ags) is therefore inverted when compared to the order of the homologous loci on the long arm of the human X (centromere-GALA-HPRT).
TL;DR: Karyotypes are presented for 13 of the 14 genera of side-necked turtles (suborder Pleurodira, families Pelomedusidae and Chelidae); the pelomedusid karyotype is regarded as derived, probably from an ancestral condition like that seen in chelids.
Abstract: Karyotypes are presented for 13 of the 14 genera of side-necked turtles (suborder Pleurodira, families Pelomedusidae and Chelidae). Pelomedusids have low diploid numbers and few microchromosomes (2n = 26–36); the five largest chromosomes are homologous in the three genera. Chelids have high diploid numbers and many microchromosomes (2n = 50–64) and are similar in this respect to cryptodires (2n = 50–66). The pelomedusid karyotype is regarded as derived, probably from an ancestral condition like that seen in chelids. Gross karyotypic differences are slight or nil within genera and among closely related pleurodiran genera. Triploidy probably occurs in Platemys platycephala (family Chelidae) which has 96 chromosomes. No sex chromosome heteromorphism was observed.
TL;DR: Investigations of late-replicating segments along the chromosomes of five clones of W. virgo confirm the considerable evolutionary stability of DNA replication patterns.
Abstract: The distribution of late-replicating segments along the chromosomes of five clones of W. virgo is described. Some, but not all of these segments correspond to C-bands. In general, the “autoradiographic profiles” (histograms of linear grain density along the length of chromosomes labeled with tritiated thymidine in late S-phase) show strong resemblances throughout the five clones. However, some significant differences exist, and these are particularly marked in the case of the Boulder clone, which is anomalous in many other respects. — A similar study has also been carried out on the two bisexual species of Warramaba (“P169” and “P196”) that gave rise, by hybridization more than half a million years ago, to the parthenogenetic W. virgo. In the case of P169, the autoradiographic profiles of the three large chromosomes (X+A, B+5, CD) which it has contributed to the W. virgo karyotype are extremely similar to those of the corresponding chromosomes in the virgo clones we have studied. In the case of P196 there is likewise, in most instances, a close resemblance of the autoradiographic profiles of the AB, X1 and CD chromosomes to those of the same chromosomes in the virgo clones, but that of the X1 shows no particular resemblance to the anomalous profile of the X1 in the Boulder clone, in which the X1 has undergone a structural reorganisation. The autoradiographic profile of the P196 CD chromosome does, however, show a much closer resemblance to that of the corresponding chromosome in the Boulder clone than to those of the CD196 in the other four virgo clones studied. These investigations confirm the considerable evolutionary stability of DNA replication patterns.
TL;DR: A 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome is reported, and a terminal deletion of 8q must be assumed to be the cause of her condition.
Abstract: We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.
TL;DR: The retention of the two parental mitochondrial DNAs has been investigated in a large number of mouse-human cell hybrids segregating either mouse or human chromosomes, by using a highly sensitive and specific method for detection of the DNA.
Abstract: The retention of the two parental mitochondrial DNAs has been investigated in a large number of mouse-human cell hybrids segregating either mouse or human chromosomes, by using a highly sensitive and specific method for detection of the DNA; the results have been correlated with the karyotype and isozyme marker pattern in the same hybrid lines. In all the hybrids examined, a consistent pattern was observed for the type of mitochondrial DNA retained: the mitochondrial DNA of the parent whose chromosomes were segregated from the nucleus was undetectable or present in marginal amounts. This was true also of hybrids containing a complete set of the segregating chromosomes in the total or a large fraction of the cell population.
TL;DR: The present case indicates that a 14q+ chromosome may provide a proliferative advantage not only to cells with a B-cell phenotype, but also to pre-B-cells.
TL;DR: Cytogenetic data on a series of 68 patients with chronic myeloid leukemia are presented, with emphasis on chromosomal findings in 19 patients who either transformed from a chronic to an acute phase or presented in a acute phase, finding no obvious correlation between the pattern of clonal evolution, blast morphology, or survival.
TL;DR: The production of micronuclei in 40-60% of normal human fibroblasts is described, with a transfer frequency of about 2 x 10(-6), a single intact human chromosome has become a functioning element of the murine genome.
Abstract: Microcell-mediated chromosome transfer is an innovative approach to the production of karyotypically simple hybrids. This method of gene transfer, employing micronuclei formed by prolonged Colcemid treatment, has been utilized for rodent systems. Expansion of this technology to include transfer of normal human genetic material has been hindered because large micronucleate populations from diploid human cells have been unobtainable. This report describes the production of micronuclei in 40-60% of normal human fibroblasts. These micronucleated cells have been enucleated by combining centrifugation and cytochalasin B treatment, and the resultant microcells have been purified and fused to recipient mouse (LMTK-) cells. Microcell hybrid clones containing a single human chromosome have been isolated from three separate fusion experiments. The time course for production of these hybrids, from fusion to karyotypic analysis, was 6 weeks. With a transfer frequency of about 2 x 10(-6), a single intact human chromosome has become a functioning element of the murine genome.
TL;DR: The method of 5′ bromodeoxyuridine pretreatment of cells in culture is commonly used to study the replication behavior of X chromosomes, and is known to demonstrate R bands along the other chromosomes, which offers a simple way to obtain quality R-banded karyotypes.
Abstract: Currently, standard methods of chromosome banding detect an abnormality in some 10%--15% of all patients referred for a cytogenetic study. Higher resolution by the study of the less contracted chromosomes with or without cell synchronization techniques may yield higher frequencies in the future. On the other hand, use of more complicated methodology adds to the time and expense needed for the study. The method of 5' bromodeoxyuridine pretreatment of cells in culture is commonly used to study the replication behavior of X chromosomes, and is known to demonstrate R bands along the other chromosomes. We have modified this technique with the addition of a cell synchronization step and evaluated several variables that are of importance in a clinical service laboratory setting. The method offers a simple way to obtain quality R-banded karyotypes. The advantages and limitations, based on our study of 120 consecutive cultures, are described.