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Results for “karyotype evolution”

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PubMed1987

Heterogeneity and balance of chromosomes in human cell line M-HeLa-76: analysis of 100 karyotypes.

The cell subline M-HeLa-76 with the modal chromosome number 49 was used to define the level of karyotypic variability. By means of a G-banding technique, 100 metaphase plates were analyzed. Among them, 11 different karyotypes were found to range from 2% to 34%. Most probable evolutionary pathways of cell karyotypes within the cell subline were demonstrated. Determination of the origin of all marker chromosomes (32 in all) and unique structural rearrangements (16) revealed a nonrandom distribution of chromosome breaks. These are primarily centromeric regions of chromosomes 3 and 5. Identification of the overall chromosome material in the cells of each karyotype via karyotype reconstruction showed their close similarity in spite of differences in the sets of normal and marker chromosomes. On the basis of reconstructed karyotypes (RK) of each cell group, a generalized reconstructed karyotype (GRK) of the cell line was obtained. This permitted the conclusion of a balanced chromosome set in a cell population as a whole and obligatory retention of diploidy in all chromosomes of a normal set. The role of variability and selection in the evolution of cell populations in vitro is discussed.

Chromosome Aberrations↗
PubMed2004

Chromosomes and speciation in Mus musculus domesticus.

Thirty years after its identification, the model of chromosomal speciation in Mus musculus domesticus is reevaluated using the methods of population biology, molecular cytogenetics and functional genomics. Three main points are considered: (1) the structural predisposition of M. m. domesticus chromosomes to Robertsonian fusion; (2) the impediment of structural heterozygosity to gene flow between populations of mice with karyotypes rearranged by Robertsonian fusion and between them and populations with the standard all-acrocentric 40-chromosome karyotype; (3) the selective advantage of chromosomal novelty, essential for the attainment of homozygosis and the rapid fixation of the new karyotype in the population.

Animals↗
PubMed1998

Microevolution of a standard strain of Cryptococcus neoformans resulting in differences in virulence and other phenotypes.

Cryptococcus neoformans is a major fungal pathogen for patients with debilitated immune systems. However, no information is available on the stability of virulence or of phenotypes associated with virulence for C. neoformans laboratory strains. A serendipitous observation in our laboratory that one isolate of C. neoformans ATCC 24067 (strain 52D) became attenuated after continuous in vitro culture prompted us to perform a comparative study of nine strain 24067 isolates obtained from six different research laboratories. Each isolate was characterized by DNA typing, virulence for mice, proteinase production, extracellular protein synthesis, melanin synthesis, carbon assimilation pattern, antifungal drug susceptibility, colony morphology, growth rate, agglutination titers, phagocytosis by murine macrophages, capsule size, and capsular polysaccharide structure. All isolates had similar DNA typing patterns consistent with their assignment to the same strain, although minor chromosome size polymorphisms were observed in the electrophoretic karyotypes of two isolates. Several isolates had major differences in phenotypes that may be associated with virulence, including growth rate, capsule size, proteinase production, and melanization. These findings imply that C. neoformans is able to undergo rapid changes in vitro, probably as a result of adaptation to laboratory conditions, and suggest the need for careful attention to storage and maintenance conditions. In summary, our results indicate that C. neoformans (i) can become attenuated by in vitro culture and (ii) is capable of microevolution in vitro with the emergence of variants exhibiting new genotypic and phenotypic characteristics.

Agglutination Tests↗
PubMed2002

Contribution of cytogenetics and in situ hybridization to the study of monoclonal gammopathies of undetermined significance.

Monoclonal gammopathies of undetermined significance (MGUS) are characterized by the presence of a monoclonal protein in serum in quite asymptomatic patients. Ten to 33% of MGUS patients eventually will develop overt multiple myeloma, but no single laboratory test exists that can predict changes toward a malignant evolution. The aim of the present study was to apply conventional cytogenetics, the MAC (morphology, antibody, chromosome) method and fluorescence in situ hybridization (FISH) techniques in a series of 50 MGUS patients and 4 "smoldering" multiple myeloma patients to test the usefulness of their approaches as predictive methodologies. All patients studied by conventional cytogenetics presented a normal karyotype independent of the culture conditions used. The MAC method revealed that all mitotic cells showing a normal karyotype were positive for anti-MOP7 or anti-CD3 in 12 patients studied. In addition, two of them presented a numerical abnormality detected by FISH. Using a FISH technique with direct labeled centromeric probes for chromosomes 3, 7, 11, and 18 we showed a numerical abnormality in eight of 35 patients (23%) with a normal karyotype. The common occurrence of MGUS and the fact that they may evolve toward lymphoproliferative disorders displays the importance of being able to identify laboratory results that are capable of predicting the evolution of these patients. In the literature, patients who presented an IgA peak of immunoglobulin type have been associated with a higher risk of evolving to a malignant condition. Our study shows the correlation of MGUS patients who presented monosomy 18 with the presence of an immunoglobulin peak of the IgA type. Prospective follow-up is needed to evaluate the clinical value of monosomy 18 as a predictive factor for defining a high risk of malignant transformation in MGUS patients.

Adult↗
PubMed2007

Identification of the human/mouse syntenic common fragile site FRA7K/Fra12C1--relation of FRA7K and other human common fragile sites on chromosome 7 to evolutionary breakpoints.

Common fragile sites (CFSs) are expressed as chromosome gaps in cells of different species including human and mouse as a result of the inhibition of DNA replication. They may serve as hot spots for DNA breakage in processes such as tumorigenesis and chromosome evolution. Using multicolor fluorescence in situ hybridization mapping, the authors describe here human CFS FRA7K on chromosome band 7q31.1 and its murine homolog Fra12C1. Within the syntenic FRA7K/Fra12C1 region lies the IMMP2L/Immp2l gene with a size of 899/983 kb. The authors further mapped 2 amplification breakpoints of the breast cancer cell line SKBR3 to the CFSs FRA7G and FRA7H. The 5 molecularly defined CFSs on chromosome 7 do not preferentially colocalize with synteny breaks between the human and mouse genomes and with intragenomic duplications that have occurred during chromosome evolution. In addition, in contrast to all currently reported data, CFSs in chromosome band 7q31 do not show increased DNA helix flexibility in comparison with control regions without CFS expression.

Animals↗
PubMed1976

Karotype, DNA replication and origin of sex chromosomes in Anopheles atroparvus.

Anopheles atroparvus has two pairs of autosomes similar in length and morphology and two sex chromosomes with equal, heterochromatic, late replicating long arms with homologous C-, G-, and Q-bands. The short arm of the Y is shorter than that of the X and both are euchromatic. The mean number of chiasmata per cell in the male is 3.2. During mitosis there is a high grade of somatic pairing but X and Y, which form a heteropycnotic mass in the interphase nucleus, have a differential behaviour. The chronology of DNA replication was studied in spermatogonia and brain cells by autoradiography. It is hypothesized that the present sex chromosomes of A. atroparvus evolved by accumulation of sex determining factors and gene deterioration resulting in heterochromatinization of the long arms, followed by structural rearrangements.--The homology of the two sex chromosomes requires limited dosage compensation which is achieved either as in Drosophila by modifier genes or by accumulation on the short arm of the X, only of female determining factors which do not require dosage compensation.

Animals↗
PubMed1991

Evolution and sequence analysis of a human Y-chromosomal DNA fragment.

A Y-chromosomal DNA fragment has been isolated from a human Y-Charon 21A recombinant library. Evolutionary analysis of 1F5 indicates that the size and sequence of this fragment have been conserved in higher primates. Deletion mapping and in situ hybridization analysis have localized 1F5 to the middle euchromatic portion of the long arm of the human Y chromosome at Yq11.2. Sequence analysis revealed the presence of an atypical Alu element and two regions rich in polypyrimidine-polypurine residues.

Base Sequence↗
PubMed2006

Genome constitution and evolution in Lolium x Festuca hybrid cultivars (Festulolium).

Festulolium hybrids are being increasingly used worldwide as forage grasses. This is due to their superior agronomic characteristics, which combine yield performance of ryegrasses (Lolium multiflorum and L. perenne) and tolerance against abiotic stress of fescues (Festuca pratensis, F. arundinacea and F. arundinacea var. glaucescens). Despite the widespread use, only fragmentary information exists on their genomic constitution. We used genomic in situ hybridization (GISH) to analyze genomic constitution of over 600 plants from almost all commercially available cultivars of Festulolium. Our results revealed a surprisingly large range of variation in the proportions of parental genomes and in the extent of intergenomic recombination. Using fluorescence in situ hybridization (FISH) with probes for ribosomal DNA, we assessed the frequency of recombination and elimination of particular chromosomes and chromosome groups in three contrasting Festulolium cultivars. This study provides novel information that will aid in understanding the relationship between a genetic make-up and the phenotype of Festulolium hybrids. Our results indicate that GISH might be a useful tool to aid in Festulolium breeding and provide data for a more detailed description of registered cultivars.

Chromosomes, Plant↗
PubMed1987

Distinct chromosome abnormalities in ataxia telangiectasia with chronic T-cell lymphocytic leukemia.

We report chromosomal studies of a 27-year-old male patient with ataxia telangiectasia who developed a chronic T-cell lymphocytic leukemia. The leukemic cells grew spontaneously although a better yield of metaphases could be obtained after PHA stimulation. Chromosome analysis revealed a hypodiploid leukemic clone (44 chromosomes) and a single remaining normal metaphase. An isochromosome 8q was detected in a subclone at an early analysis, which was lost during clonal evolution. At the time of the last analysis, 6 months before the patient died, the diploid metaphases disappeared completely. The karyotype of the final chromosome study showed a monoclonal condition with the following abnormalities: 44,X,-Y,4q-,6p-,14q-,19p+,20q+,-20,22q-. Loss of the Y chromosome was limited to the leukemic cells. Comparing our data with the chromosome abnormalities reported in the literature, breakpoints at band 14q11-12 (location of the gene for the alpha chain of the T-cell receptor), loss of a normal chromosome #20, as well as structural abnormalities of the remaining chromosome 20p seem to be nonrandom in T-CLL arising in patients with ataxia telangiectasia. A Philadelphia-like marker that seems to be a peculiar feature of the case described here, however, resembles a small marker chromosome qualified as unidentifiable in a similar case of T-CLL reported in the literature.

Adult↗
PubMed2005

Immortalization of human extravillous cytotrophoblasts by human papilloma virus gene E6E7: sequential cytogenetic and molecular genetic characterization.

Extravillous cytotrophoblast (EVCT) cultures from the normal placentas of three pregnant women were transfected by HPVE6E7. Sequential cytogenetic and molecular analyses were performed to delineate genetic events that may be critical for cell immortalization. One line, PE1-E6E7, was immortalized successfully, whereas 2 other lines, PE3-E6E7 and PE4-E6E7, could not be maintained beyond crisis. Before crisis, the majority of cells in all lines were karyotypically normal. During the early stages of crisis, there was progressive telomere shortening. Most cells were karyotypically abnormal, with extreme cytogenetic divergence and a predominance of telomeric association and dicentric chromosomes affecting many chromosomes. At the later stages of crisis, the karyotype became more convergent with a drastic decrease in nonclonal aberrations. In PE1-E6E7, after crisis the karyotype was complex, with frequent centromeric rearrangements in the form of isochromosomes and whole-arm translocations. There were unbalanced structural aberrations and numerical changes, including loss of chromosome 13, that could be traced throughout the evolution of the line. These findings support the concept that immortalization is a relatively rare and nonrandom event that occurs only in cells that have acquired the necessary or critical genetic alterations. Telomeric dysfunction may be an important mechanism leading to the acquisition of complex karyotypical aberrations.

Cells, Cultured↗
PubMed1992

The evolutionary history of Drosophila buzzatii. XXIV. Second chromosome inversions have different average effects on thorax length.

We demonstrate a genetic correlation between rearrangements of the second chromosome of D. buzzatii and thorax length, as a measure of body size. The results indicate that 2j and 2jz3 arrangements are correlated with large size, whereas 2st arrangement is correlated with small size. Some inversions (2st and 2jz3) show dominant effects and others (2j/jz3) exhibit overdominance. These results show that at least 25 per cent of body size variation may be accounted for by the studied karyotypes. The possible integration of the genotypic, phenotypic and fitness levels, and also the possible implications to life-history evolution theories, are discussed. These results suggest that, under moderate to high heritability values, some kinds of chromosomal endocyclic and/or balancing selection may be valuable mechanisms for maintenance of body size variation.

Animals↗
PubMed1975

The comparative evolutionary biology of the sibling species, Drosophila melanogaster and D. simulans.

1. D. melanogaster and D. simulans are sibling species; they are morphologically almost identical and genetically very similar. Whereas their sexual behavior patterns are qualitatively similar, hybrids are rarely produced and when they are, they are sterile. 2. Although not all data are in agreement, D. melanogaster generally exhibits more chromosomal, enzyme, and protein polymorphism than does D. simulans. Utilizing this relationship, as well as arguments presented in the literature, one can argue for an association between genetic variability and level of ecological heterogeneity. This association is found for two major environmental variables, temperature and light dependence. 3. On a seasonal basis, D. melanogaster achieves large population numbers early in the summer, as D. simulans does in the autumn...

Animals↗
PubMed2001

A comparative cytogenetic study of chromosome homology between chicken and Japanese quail.

In order to construct a chicken (Gallus gallus) cytogenetic map, we isolated 134 genomic DNA clones as new cytogenetic markers from a chicken cosmid DNA library, and mapped these clones to chicken chromosomes by fluorescence in situ hybridization. Forty-five and 89 out of 134 clones were localized to macrochromosomes and microchromosomes, respectively. The 45 clones, which localized to chicken macrochromosomes (Chromosomes 1-8 and the Z chromosome) were used for comparative mapping of Japanese quail (Coturnix japonica). The chromosome locations of the DNA clones and their gene orders in Japanese quail were quite similar to those of chicken, while Japanese quail differed from chicken in chromosomes 1, 2, 4 and 8. We specified the breakpoints of pericentric inversions in chromosomes 1 and 2 by adding mapping data of 13 functional genes using chicken cDNA clones. The presence of a pericentric inversion was also confirmed in chromosome 8. We speculate that more than two rearrangements are contained in the centromeric region of chromosome 4. All 30 clones that mapped to chicken microchromosomes also localized to Japanese quail microchromosomes, suggesting that chromosome homology is highly conserved between chicken and Japanese quail and that few chromosome rearrangements occurred in the evolution of the two species.

Animals↗
PubMed2002

Chromosomal studies on ten species of notothenioid fishes (Notothenioidei: Bathydraconidae, Channichthyidae, Nototheniidae).

The results of a cytogenetic study conducted with banding and in situ hybridization techniques using ribosomal and telomeric probes on various species belonging to three families (Bathydraconidae, Channichthyidae and Nototheniidae) of the perciform suborder, Notothenioidei, are reported. The heterochromatin distribution and composition, nucleolar organiser and localisation of telomeric sequences seem to indicate that both in karyologically conservative families such as channichthyids and in families exhibiting greater karyological variability, certain DNA fractions like ribosomal genes and centromeric and telomeric DNAs are prone to some variability. This could play an important role in favouring or hampering chromosome rearrangements.

Animals↗
PubMed2005

Biogeographic distribution of polyploidy and B chromosomes in the apomictic Boechera holboellii complex.

The Boechera holboellii complex comprises B. holboellii and B. drummondii, both of which can reproduce through sex or apomixis. Sexuality is associated with diploid individuals, whereas apomictic individuals are diploid or triploid and may additionally have B chromosomes. Using flow cytometry and karyotype analysis, we have shown that B chromosomes (a) occur in both diploid and triploid apomictic B. holboellii, (b) may occur in triploid B. drummondii, and (c) are dispensable for the plant. Both diploid and triploid karyotypes are found in multiple chloroplast haplotypes of both species, suggesting that triploid forms have originated multiple times during the evolution of this complex. B chromosome carriers are found in geographically and genetically distinct populations, but it is unknown whether the extra chromosomes are shared by common descent (single origin) or have originated via introgressive hybridization and repeated transitions from diploidy to triploidy. Diploid plants containing the Bs reproduce apomictically, suggesting that the supernumerary elements are associated with apomixis. Finally, our analyses of pollen size and viability suggest that irregular chromosome segregation in some triploid lineages may lead to the generation of diploid individuals which carry the B chromosomes.

Brassicaceae↗
PubMed1997

Heterochromatin heterogeneity and chromosome variability in four species of gobiid fishes (Perciformes:Gobiidae).

A karyological study of four species of gobiid fishes, Gobius niger, G. paganellus, G. cobitis, and Zosterisessor ophiocephalus (Perciformes, Gobiidae), was conducted by standard, fluorochrome staining (using chromomycin A3, mithramycin, and DAPI), Alu-I digestion, and CBG- and RBG-banding methods. Our cytogenetic data indicate that heterochromatin in these taxa is highly differentiated, exhibiting heterogeneity in staining characteristics, and presumably in underlying DNA sequences, and a different capability for promoting Robertsonian fusions.

Animals↗