Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “karyotype evolution”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources

Theoretical bases for karyotype evolution. II. The fusion burst in man and mouse.

As a theoretical standard for evaluating the high incidence of centric fusion in man and mouse, the relative probabilities of occurrence of reciprocal translocation (Tr), inversion (In) and centric fusion (Fu) were estimated based on the random-contact-and-exchange model. It was shown by this model that centric fusion was extremely rare (Fu = 0.0002, In = 0.0521 and Tr = 0.9477 for a human haploid karyotype). On the other hand, the occurrence rate of centric fusion in human newborn babies and European feral mice was about 500-1,000 times higher than the theoretically expected values, which is termed here the "fusion burst". We suggest that the fusion burst may be induced by the physical proximity of telomeres on the nuclear membrane, and the exchange of DNA strands by errors of telomere replication mechanisms. The cytogenetical significance of the fusion burst is discussed with regard to the minimum interaction hypothesis proposed by Imai et al. (1986). We suggest two closely linked possibilities that (1) the fusion burst in man and mouse can theoretically be placed in karyotype evolution as a transitional phase in the main stream of the fission-inversion cycle, and (2) it may be accelerated by some unknown (mutagenic) factors other than ionizing radiation.

Animals↗

The chromosomes of Diprion pini and D. similis (Hymenoptera: Diprionidae): implications for karyotype evolution.

Earlier cytological investigations characterize the family Diprionidae with a modal chromosome number of seven. This study shows that Diprion pini and D. similis have 14 acrocentric chromosomes (n = 14 for haploid males and 2n = 28 for diploid females). In D. pini, rRNA genes are located on the satellite and the round short arm of the chromosome carrying this segment. We studied six populations with no evidence of chromosomal polymorphism at the species level. Our results disagree with those published previously and reopen the question of karyotype evolution. Chromosome morphology, ISH and C-banding results support the hypothesis of chromosome number doubling by centric fission and not by polyploidization, followed by the growth of short arms by means of pericentromeric DNA amplification.

Animals↗

Statistical dissection of cytogenetic patterns in lung cancer reveals multiple modes of karyotypic evolution independent of histological classification.

Lung carcinomas are cytogenetically highly complex. In spite of this, patterns of recurrent chromosome aberrations have emerged. Apart from the frequent loss of 3p, losses of 4q, 5q, 8p, 9p, 10q, 13q, and 17p are common and gains often include 1q, 3q, 5p, and 8q. In the present study, we retrieved all aberrant lung carcinoma karyotypes, in total 432 cases, from the Mitelman Database of Chromosome Aberrations in Cancer and identified the most frequent imbalances. Each case was then classified with respect to the presence or absence of these imbalances and the data were statistically analyzed by means of principal component analysis, multidimensional scaling, and hierarchical cluster analysis. The analyses suggest that lung cancer develops through three pathways, initiated by +7, 3p-, and +12, respectively, and that the 3p- pathway is dominated by losses and the +12 pathway by gains. Gain of chromosome 7 was shown to be both important in the 3p- pathway and also forming a group of tumors containing +7 and +20 (with few additional changes). The distribution of the number of imbalances per tumor indicated that the karyotypic evolution might pass through three different phases. Phase I is characterized by tumors with few changes and by well-separated 3p- and +12 pathways. Phase II cases have an increased number of imbalances and exhibit less distinct 3p- and +12 pathways. Phase III tumors are polyploid and highly complex. No marked differences between the karyotypic profiles were found among morphologic subtypes, suggesting that lung cancer morphology is independent of the particular cytogenetic pathway operating in the tumor cells.

Adenocarcinoma↗

Karyotypic evolution of Apodemus (Muridae, Rodentia) inferred from comparative FISH analyses.

We conducted comparative FISH analyses to investigate the chromosomal rearrangements that have occurred during the evolution of the rodent genus Apodemus, which inhabits broadleaf forests in the temperate zone of the Palaearctic region. Chromosome-specific painting probes of the laboratory mouse were hybridized to chromosomes of seven Apodemus species, A. agrarius, A. argenteus, A. gurkha, A. peninsulae, A. semotus, A. speciosus and A. sylvaticus, and homologous chromosomal regions were determined in the species for the study of karyotypic evolution. Differences in the hybridization patterns were found in nine pairs of autosomes among the seven species. The chromosomal location of the 5S rRNA genes on the telomeric region of chromosome 20 was highly conserved in all the species. In contrast, there was much wider variation in the location of the 18S-28S rRNA genes, although they were predominantly located on chromosomes 7, 8 and 12. Phylogenetic relationships of the seven Apodemus species were inferred from the chromosome rearrangements and the chromosomal distribution patterns of the 18S-28S rRNA genes. The karyotypic relationships correlated well with the molecular phylogeny, and A. semotus had the most highly conserved karyotype among the seven species.

Animals↗

The chromosomes of the Hadada ibis and comments on the karyotype evolution in Threskiornithidae (Aves, Ciconiiformes).

The karyotype of Hagedashia hagedash differs from that of the other ibises karyotyped and introduces further karyotypic variability within the family Threskiornithidae. This variability is in contrast with the generalized karyotypic uniformity of birds and the karyotypic identity displayed by the family Ciconidae, which is closely related to the ibises. A discussion is presented of parameters of ethological structure of the populations that can, in some cases, allow chromosomal rearrangement to be fixed, thereby enhancing ongoing speciation phenomena in the Aves class.

Animals↗

Certain patterns of karyotype evolution in chronic myelogeneous leukaemia. Chromosome abnormalities in CML.

The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell lines. The most frequent abnormalities were i(17q) and trisomy 8. The regularities of karyotype evolution in the terminal stage of CML are discussed.

Adult↗

In vitro karyotype evolution and cytogenetic instability in the non-tumorigenic human breast epithelial cell line HMT-3522.

The "spontaneously" immortalized cell line HMT-3522, derived from a fibrocystic breast lesion, is used as a model for premalignant breast epithelium. During 205 passages the cytogenetic evolution was followed. The results were compared with our earlier results on oncogene expression and growth factor requirements. During in vitro growth, gain and loss of markers, loss of normal chromosomes, and duplication of the chromosome complement could be demonstrated. The variability increased during in vitro growth. This variability, probably created randomly, leads to cells with different growth capacities, from which sidelines may be selected and become stemlines. The karyotypic evolution (including polyploidization) demonstrated here may be a result of genetic instability and heterogeneity. Although tumorigenicity was not achieved, either due to lack of cancer-specific gene alterations or to lack of proper selection pressure, the results suggest an ongoing process towards malignancy.

Breast↗

Cytogenetic analysis of in vitro karyotype evolution in a cell line established from nonmalignant human mammary epithelium.

Cytogenetic analysis was carried out on six passages (pass. 16, 19, 21, 25, 34, and 47) of the nontumorigenic epithelial cell line, HMT-3522, established from a fibrocystic lesion of the human breast. Minor chromosome abnormalities were present in the first passage (pass. 16) available for study, and limited cytogenetic progression was observed during the in vitro growth. A modal chromosome number of 45 chromosomes was found in all passages. Each passage contained 4-5 marker chromosomes. Three markers were consistently present in all passages studied. During in vitro growth two markers were gained and two markers were lost from the stemline karyotype. The two latest passages studied had identical karyotypes: 45,XX, del(1)(q44----p32:),t(5;14)(14p13----14q32::5q22----++ +5q35),t(6;8;12;17)(8p23---- 8q24::6p21.1----6p23;12q24----12p13::6p23- --- 6p25;17p13----17q25::6q11----6q27). The present study demonstrates chromosome abnormalities and karyotypic evolution in a nontumorigenic (in nude mice) and noninvasive (in vitro tested) cell line established from nonmalignant epithelial breast tissue. The results are discussed in relation to gene amplification, double minutes and oncogene localization.

Breast↗

In vivo karyotypic evolution with altered biological characteristics in a case of neuroblastoma.

Molecular and biological analyses of a neuroblastoma case in which the original tumor contained a nodular region are described. No significant difference was observed between the nodular and the surrounding tumor tissue with respect to histopathologic examination, N-myc amplification, and trkA expression. However, flow cytometric analysis demonstrated that the nodular region consisted of a hypertetraploid clone, whereas the surrounding tissue mostly contained a hyperdiploid clone. Chromosome analysis showed that each clone had a similar chromosome acquisition pattern, suggesting that the hypertetraploid cells of the nodular region arose from the hyperdiploid cells of the surrounding tissue. Moreover, primary culture findings of the tumor cells showed that the responses to nerve growth factor or retinoic acid were different between the two. Collectively, this case suggests the possibility that neuroblastoma acquires novel biological characteristics through karyotypic evolution in vivo.

Abdominal Neoplasms↗

["Chain" karyotypic evolution of embryonic stem cell line R1 in vitro].

Cytogenetic anomaly frequencies were analysed in three sublines of ES R1 line in its five clonal sublines, obtained from two cell colonies after transformation of ES R1 cells by plasmid with gene lif. Cell transformation did not increase cytogenic anomalies, however, the initial sublines of ES R1 line, as well as its transformed clonal descendants bore a redundant quantity of the chromosome 8 material within the structure of various Robertsonian translocations even in cells with diploid chromosome quantity (2n = 40). In the initial sublines ES R1 and its clonal descendants a common Rb (8; 15) was revealed. It was supposed that selection for the increase in ES cell sensitivity to cytokines (in particular, LIF) under cultural conditions was accompanied by an increase in chromosomal copies, carrying genes of mapk andjak/stat, through which downstream effectors of cytokine signals for preservation of cell pluripotention and propagation are realized. Genes of chromatid separation and chromosome segregation control (for example, separase gene Esp1 in chromosome 15) may be passively involved in this process, thus promoting acceleration of karyotype evolution in ES cells.

Animals↗

Noninvolvement of chromosome 16 in karyotype evolution of acute myeloid leukemia in a patient with a heritable fragile site on 16q22.

A fragile site on the long arm of chromosome #16 (q22) was detected in a 24-year-old man with pancytopenia. During the course of the disease he developed an inverted duplication of region q11-12 of chromosome #1 and a translocation between chromosomes #9 and #13: t(9;13)(p22;q32). These abnormalities, as well as an additional iso-like marker chromosome that consisted of one normal 9p and the abnormal 9p arm, were detected in Epstein-Barr nuclear antigen-positive B-cell cultures. Two years later, evolution of the abnormal clone with loss of chromosome #7 and, subsequently, chromosome #22 occurred in connection with development of acute myeloid leukemia. Although the heritable fragile site on chromosome #16 was present in all cell populations investigated, it was not involved in the evolution of the abnormal karyotype. This fragile chromosome #16 also was found in 4 of 11 family members in whom chromosome analysis was performed, thus suggesting this aberration was inherited in a dominant autosomal pattern. The incidence of the heritable fragile site in normal and leukemic cells of the patient, as well as stimulated blood cultures of his relatives, are reported. In addition, the possible relationship between this constitutional chromosome breakage syndrome and the occurrence of leukemia is analyzed.

Adult↗

Karyotypic evolution in CLL: identification of a new sub-group of patients with deletions of 11q and advanced or progressive disease.

Chronic lymphatic leukaemia (CLL) is the most common leukaemia and is characterized by long-term survival. Previous studies have shown that karyotypic abnormalities are relatively stable and that certain abnormalities may be associated with a poor prognosis. In a prospective 5-year study of 45 patients with typical CLL, sequential karyotypic studies were undertaken every 6-12 months. Clonal karyotypic abnormalities were identified in 62% of patients, either at diagnosis or during the study period with 38% (17/45) exhibiting clonal evolution. In patients with no clinical disease progression, 13q abnormalities were most commonly detected compared with 11q deletions in patients with progressive disease. Karyotypic evolution was significantly associated with progressive disease (12/16, 75% vs 5/29, 17%; P < 0.001, chi2). Thus, karyotypic evolution is not uncommon in CLL, is usually associated with disease progression and deletions of 11q are the commonest detected abnormalities.

Adult↗

New evidence for tandem chromosome fusions in the karyotypic evolution of Asian muntjacs.

A clone of highly repetitive DNA, designated C5, was isolated from DNA of female Chinese muntjac cells. The nucleotide sequence of this clone is 80%-85% homologous to that of the satellite IA clone and other highly repetitive DNA clones previously obtained from the Indian muntjac. Using C5 as a probe for in situ hybridizations to chromosome preparations of cells of both the Chinese and Indian muntjacs, we were able to show that these repeated sequences occur in centromeric heterochromatin of the chromosomes of both Chinese and Indian muntjac species. More significantly, non-random clusters of hybridization signals were detected on the arms of chromosomes of the Indian muntjac. These latter hybridization sites are postulated to be regions of interstitial heterochromatin and could be the remnants of centromeric heterochromatin from ancestral Chinese muntjac chromosomes. Our observations provide new supportive evidence for the tandem chromosome fusion theory that has been proposed for the evolution of the Indian muntjac karyotype.

Animals↗

Complex, compound inversion/translocation polymorphism in an ape: presumptive intermediate stage in the karyotypic evolution of the agile gibbon Hylobates agilis.

Karyotypic variation in five gibbon species of the subgenus Hylobates (2n = 44) was assessed in 63 animals, 23 of them wild born. Acquisition of key specimens of Hylobates agilis (agile gibbon), whose karyotype had been problematic due to unresolved structural polymorphisms, led to disclosure of a compound inversion/translocation polymorphism. A polymorphic region of chromosome 8 harboring two pericentric inversions, one nested within the other, was in turn bissected by one breakpoint of a reciprocal translocation. In double-inversion + translocation heterozygotes, the theoretical meiotic pairing configuration is a double inversion loop, with four arms of a translocation quadrivalent radiating from the loop. Electron-microscopic analysis of synaptonemal complex configurations consistently revealed translocation quadrivalents but no inversion loops. Rather, nonhomologous pairing was evident in the inverted region, a condition that should preclude crossing over and the subsequent production of duplication-deficiency gametes. This is corroborated by the existence of normal offspring of compound heterozygotes, indicating that fertility may not be reduced despite the topological complexity of this polymorphic system. The distribution of inversion and translocation morphs in these taxa suggests application of cytogenetics in identifying gibbon specimens and avoiding undesirable hybridization in captive breeding efforts.

Animals↗

Studies on karyotype evolution in higher primates in relation to human chromosome 14 and 9 by comparative mapping of immunoglobulin C epsilon genes with fluorescence in situ hybridization.

Karyotypic homologies in relation to human chromosome 14 and 9 were studied through comparative mapping of the immunoglobulin C epsilon genes in higher primates by fluorescence in situ hybridization (FISH) technique. The C epsilon genes will be suitable probes for the analysis of evolutionary rearrangements due to that the multiple recombinational events such as gene duplications and deletions have occurred repeatedly in the immunoglobulin CH gene family (IGH@) during the course of primate evolution. IGH@ locating on the terminal region of human chromosome 14 (HSA14), at band HSA14q32.33, has generated multiple pseudogenes and among subclasses of IGH@ the C epsilon genes have shown most dynamic changes with generating both truncated type (C epsilon 2) and processed type (C epsilon 3) pseudogenes. In this study, chromosomal homologies and rearrangements on HSA14 (C epsilon 1) and HSA9 (C epsilon 3) in relation to the evolutionary genesis of their primate homologous chromosomes in speciation were investigated by comparative mapping with FISH and chromosome painting (ZOO-FISH) techniques. Comparative mapping of the C epsilon 1 gene at HSA14q32.33 was carried out in seven species of nonhuman primates: common chimpanzee (PTR), pygmy chimpanzee (PPA), gorilla (GGO), orangutan (PPY), white-handed gibbon (HLA), agile gibbon (HAG), and Japanese macaque (MFU). The C epsilon 1 gene was assigned to the telomeric region of HSA14 homologues in each species, namely, PTR15q32, PPA15q32, GGO18q16, PPY15q32, HLA17qter, HAG17qter, and MFU7q29, respectively. These results suggested that HSA14 has high degree of syntenic organization with its primate homologues confirmed by ZOO-FISH. Concerning HSA9, comparative mapping of the C epsilon 3 gene at HSA9p24.2-->p24.1 was performed. The mapped positions indicated the HSA9 homologous regions detected by ZOO-FISH in each species, namely, PTR11q34, PPA11q34, GGO13q22, PPY13q16, HLA8qter, HAG8qter, and MFU14q22, respectively, suggesting that several dynamic chromosomal rearrangements including at least twice pericentric inversions have occurred during the course of hominoid evolution. The comparison of syntenic groups and painting results has provided a hypothesis of the evolutionary genesis of HSA9 and its homologues with defined breakpoints on the present chromosomes. Likewise, studies on karyotype evolution will be promoted by combining comparative mapping with ZOO-FISH that can more clearly define the chromosomal rearrangements among species.

Animals↗

Nuclear DNA contents, rDNAs, and karyotype evolution in subgenus Vicia: III. The heterogeneous section Hypechusa.

Nuclear DNA contents, automated karyotype analyses, and sequences of internal transcribed spacers from ribosomal genes have been determined in the species belonging to section Hypechusa of the subgenus Vicia. Karyomorphological results and phylogenetic data generated from the comparison of rDNA (genes coding for rRNA) sequences showed that sect. Hypechusa is not monophyletic; however, some monophyletic units are apparent (one including Vicia galeata, V. hyrcanica, V. noeana, and V. tigridis, another including V. assyriaca, V. hybrida, V. melanops, V. mollis, and V. sericocarpa), which partly correspond to morphology-based infrasectional groups. The relationships among these species and the species in sections Faba, Narbonensis, Bithynicae, and Peregrinae have been also investigated.

Cell Nucleus↗

Comparative genomic analysis links karyotypic evolution with genomic evolution in the Indian muntjac (Muntiacus muntjak vaginalis).

The karyotype of Indian muntjacs (Muntiacus muntjak vaginalis) has been greatly shaped by chromosomal fusion, which leads to its lowest diploid number among the extant known mammals. We present, here, comparative results based on draft sequences of 37 bacterial artificial clones (BAC) clones selected by chromosome painting for this special muntjac species. Sequence comparison on these BAC clones uncovered sequence syntenic relationships between the muntjac genome and those of other mammals. We found that the muntjac genome has peculiar features with respect to intron size and evolutionary rates of genes. Inspection of more than 80 pairs of orthologous introns from 15 genes reveals a significant reduction in intron size in the Indian muntjac compared to that of human, mouse, and dog. Evolutionary analysis using 19 genes indicates that the muntjac genes have evolved rapidly compared to other mammals. In addition, we identified and characterized sequence composition of the first BAC clone containing a chromosomal fusion site. Our results shed new light on the genome architecture of the Indian muntjac and suggest that chromosomal rearrangements have been accompanied by other salient genomic changes.

Animals↗