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Comparative FISH mapping of 32 loci reveals new homologous regions between donkey and horse karyotypes.

A total of 32 loci comprising specific genes, microsatellites and anonymous BAC clones from horse and cattle were mapped on donkey chromosomes. Of these, 13 markers were also mapped for the first time in the horse. This information, together with that previously available in donkey and horse updates the comparative status of the karyotypes of the two species. The findings of the present study for the first time show correlation between eleven equine acrocentric autosomes and the donkey chromosomes and in part enable detection of rearrangements between them. There are still 7-8 pairs of chromosomes/arms for which no correspondence is known. At least 20 chromosome rearrangements (inversions, fusions and fissions) are already identified that differentiate the two karyotypes. More will be known once complete correspondence is deduced between them. These observations match similar differences observed between human-gibbon and mouse-rat karyotypes that show considerable rearrangements in relation to each other. How donkey and horse karyotypes gathered these differences within a short period of 5-10 Myr since divergence from a common ancestor will be known only after an ancestral equid karyotype is deduced, and the direction of change leading to chromosome rearrangements is clearly understood.

Animals↗

Cytogenetic analysis of uncleaved oocytes after intracytoplasmic sperm injection.

PURPOSE: This work analyzes the causes of cleavage failure after intracytoplasmic sperm injection (ICSI) and the effect of the procedure on the chromosomes of the oocytes. METHODS: Ninety-seven uncleaved oocytes from 39 patients with severe male infertility or repeated IVF failure were fixed; 79 were analyzable. We checked the decondensation stage of spermatozoa nucleus and the chromosomal abnormalities of the oocytes. RESULTS: Among the fixed oocytes, the spermatozoa nucleus was present in 97% of the cases, and it was undecondensed in 89% of the cases, showing no evolution at all. A low rate (2.6%) of premature chromosome condensation (PCC) of the spermatozoa and a low rate (2.5%) of female diploïdy were observed. Among the oocytes that could be karyotyped, we observed a high rate (45%) of chromosome breakage. CONCLUSION: ICSI fertilization failure was due mostly to the complete lack of evolution of the spermatozoa nucleus. Oocyte selection before ICSI seemed to lower the PCC rate. The high rate of oocyte chromosomal breakage rate has to be confirmed.

Chromosome Aberrations↗

A finding of the XX/XY1Y2 sex-chromosome system in Taterillus arenarius (Gerbillinae, Rodentia) and its phylogenetic implications.

A chromosome banding study (R- and C-bands) of a male Taterillus arenarius (Rodentia, Gerbillinae) specimen from Mauritania revealed the presence of an XX/XY1Y2 sex-chromosome system in the karyotype, as found previously in three other congeneric species. This finding allowed us to resolve the phylogenetic affinities of this species within the genus and to propose an evolutionary scenario leading to the formation of the species with an XX/XY1Y2 sex-chromosome system. A review of chromosome data in Taterillus suggests that there may be more species in the genus than hitherto recognized.

Animals↗

A comparison of the karyotype, constitutive heterochromatin, and nucleolar organizer regions of the new tetraploid species Xenopus epitropicalis Fischberg and Picard with those of Xenopus tropicalis Gray (Anura, Pipidae).

A cytological analsis of the recently discovered tetraploid species Xenopus epitropicalis was carried out, using, in addition to the classical orcein method, silver staining and alkaline Giemsa banding techniques. The chromosome number of X. epitropicalis was found to be 40. The chromosomes can be grouped in to sets of four similar chromosomes (quartets), resembling the karyotype of X. tropicalis (2n = 20). However, C-band patterns revealed heterogeneity within the quartets, dividing each of them into two pairs of homologous chromosomes ("duets"). Moreover, there are differences in the position and distribution of constitutive heterochromatin between the karyotypes of X. epitropicalis and X. tropicalis. The secondary constrictions stained by silver and representing the nucleolar organizer regions (NOR's) appear in both species on chromosome pair 5. During meiosis, usually only bivalents appear in X. epitropicalis. The question of whether this species is of autopolyploid or allopolyploid origin cannot be answered with certainty; however, it seems to have a common ancestor with X. tropicalis.

Animals↗

Chromosome evolution in Neotropical Danainae and Ithomiinae (Lepidoptera).

Chromosome numbers are given for 1011 populations of 242 species, representing the full range of taxa (49 of the about 52 presently recognized genera) in the Neotropical Nymphalid butterfly subfamily Ithomiinae (prime movers for mimicry rings), including many additional geographical subspecies from 47 regions from Mexico and the Caribbean islands throughout all tropical South American countries to southern Brazil. Twelve Neotropical Danainae (in 3 genera), all but one with n=29-31, and the Australian Tellervo (n=32) served as sister groups for comparison. The numbers range near-continuously from n=5 to n=120 with modal values (33-84 counts) at n=12-18, and only 16 and 26 counts at the usual modal number of all butterfly groups, n=30-31. Superimposition of these changes in karyotype on a cladistic phylogeny of the subfamily indicates possible early halving of the complement to n about 14-15, followed by much variation in each genus and tribe. While at least 17 species in 15 genera show stable karyotypes over much of the Neotropics, at least 40 species show large geographical variation in number of chromosomes, rarely accompanied by any evidence for reduction in fertility or incipient speciation. The evolutionary opportunism of the members of this subfamily probably accompanies their known population biology and community ecology: they are common, shade-loving, highly gregarious (occurring in small multispecies "pockets" in deep forest) and often migratory as a community when the environment becomes unfavorable (too hot or dry).

Americas↗

Further insights into the ancestral murine karyotype: the contribution of the Otomys-Mus comparison using chromosome painting.

The African vlei rat, Otomys irroratus, comprises several distinct chromosomal races that may be grouped into two major cytogenetic clades. Recognition of these clades is underpinned by a complex chromosomal rearrangement involving three different autosomes in the unfused state. We have used unidirectional fluorescence in situ hybridization (FISH) of mouse chromosome-specific painting probes to molecularly define the components of this rearrangement as well as to establish the chromosomal homologies between the mouse and the vlei rat genomes. This has allowed for the detection of 41 autosomal segments of conserved synteny. Nine mouse chromosomes were conserved in toto (MMU3, 4, 6, 7, 11, 12, 14, 18, 19) with a further seven (MMU2, 5, 8, 9, 10, 13, 16) showing homology to two discrete regions in the vlei rat genome. Two mouse autosomes (MMU15, 17) correspond to three regions in O. irroratus with MMU1 being the most fragmented showing five sites of hybridization in this species. By mapping these data to published sequence-based phylogenies we are able to confirm most of the published putative ancestral murine chromosomal states. Our data further indicate that MMU15a+ MMU13b+MMU10b+MMU17b was present in the murine ancestral karyotype suggesting an ancestral 2n = 52 rather than the 2n = 54 previously postulated.

Animals↗

Chromosome analysis of Schistosoma rodhaini (Trematoda: Schistosomatidae).

The chromosome number of Schistosoma rodhaini Brumpt is 2n=16, with apparent sexual dimorphism quantifiable in chromosome pair no. 2. A method for dissociating host tissue coupled with hypotonic treatment yields permanent mitotic chromosome spreads with very defined centromere regions. The karyotype of S. rodhaini is very similar to that of its sibling species, S. mansoni Sambon, except there is a pericentric inversion in the S. rodhaini nucleolar organizer chromosome pair, S. rodhaini does not have any satellited chromosomes, and S. rodhaini has slightly shorter short arms of the group I chromosomes than S. mansoni. This distinction of chromosomes of similar species of schistosomes will be important for field identification of parasites and in elucidating the evolution of the schistosomes.

Animals↗

Mapping genomic rearrangements in titi monkeys by chromosome flow sorting and multidirectional in-situ hybridization.

We developed chromosome painting probes for Callicebus pallescens from flow-sorted chromosomes and used multidirectional chromosome painting to investigate the genomic rearrangements in C. cupreus and C. pallescens. Multidirectional painting provides information about chromosomal homologies at the subchromosomal level and rearrangement break points, allowing chromosomes to be used as cladistic markers. Chromosome paints of C. pallescens were hybridized to human metaphases and 43 signals were detected. Then, both human and C. pallescens probes were hybridized to the chromosomes of another titi monkey, C. cupreus. The human chromosome paints detected 45 segments in the haploid karyotype of C. cupreus. We found that all the syntenic associations proposed for the ancestral platyrrhine karyotype are present in C. cupreus and in C. pallescens. The rearrangements differentiating C. pallescens from C. cupreus re one inversion, one fission and three fusions (two tandem and one Robertsonian)that occurred on the C. cupreus lineage. Our results support the hypothesis that karyological evolution in titi monkeys has resulted in reduction in diploid number and that species with higher diploid numbers (with less derived, more ancestral karyotypes)are localized in the centre of the geographic range of the genera, while more derived species appear to occupy the periphery.

Animals↗

Complete telomere-to-telomere genome assembly of Guazuma ulmifolia uncovers evolutionary mechanisms, drought adaptation, and flavonoid biosynthesis.

The first T2T reference genome of Guazuma ulmifolia is reported, which serves as a core genomic resource for stress adaptation research and stress-tolerant breeding in cacao wild relatives. Climate change, particularly increased incidence of drought, poses a major threat to food security. Understanding the genomic basis of environmental adaptation in crop wild relatives can provide valuable resources for improving stress resilience. Guazuma ulmifolia, a wild relative of Theobroma cacao with important ecological and medicinal value, lacks high-quality reference genomic resources. Here, we report the first telomere-to-telomere (T2T) chromosome-level genome assembly of G. ulmifolia, with a genome size of 311.31 Mb, contig N50 of 35.19 Mb, and 98.70% BUSCO completeness. Repetitive sequences constitute 27.43% of the G. ulmifolia genome, with LTR retrotransposons as the predominant class. Comparative genomic analyses revealed that genome-size variation among Malvaceae species is associated with differences in polyploidization history and TE dynamics. Ancestral karyotype reconstruction identified five lineage-specific chromosome fusion events distinguishing G. ulmifolia from T. cacao. Comparative analyses further identified tandem duplication-associated expansion of stress-related LEA and GST gene families, suggesting potential genomic features associated with stress responses. Flavonoid biosynthesis genes were largely conserved in copy number but showed tissue-specific expression patterns, providing candidate genes for investigating secondary metabolism. Together, this study establishes a high-quality T2T genome resource for exploring genome evolution, chromosome organization, and stress-related genomic features in Malvaceae.

Genome, Plant↗

Phylogenetic analyses and chromosome evolution in Convallarieae (Ruscaceae sensu lato), with some taxonomic treatments.

The tribe Convallarieae, comprising 10 genera and 95 species, has recently been transferred from its own family to Ruscaceae sensu lato. In this study, sequence data from trnK and rbcL were analyzed for 19 species in 8 genera, and chromosome morphology was analyzed for 17 species in 7 genera. The parsimony analysis of trnK and rbcL sequences showed that Convallarieae are monophyletic. Although early branches did not receive strong bootstrap support, Convallaria diverged at the first branch, followed by Speirantha. The rest of the tribe was split into three, well-supported clades: one with Reineckea, the second with Campylandra and Rohdea, and the third with Tupistra, Tricalistra, and Aspidistra. Two monotypic genera, Rohdea and Tricalistra, were embedded in a clade of Campylandra and of Tupistra, respectively. Three karyotypes were distinguished in the tribe on the basis of the basic number and morphology of metaphase chromosomes: Convallaria type (with x=19 and unimodal chromosome length), Tupistra type (with x=19 and trimodal chromosome length), and Aspidistra-elatior type (with x=18 and trimodal chromosome length). The character-state distribution in the molecular tree showed that the Convallaria type is plesiomorphic, from which was derived the Tupistra type and subsequently the Aspidistra-elatior type. Taxonomic treatments to transfer Campylandra to Rohdea and Tricalistra to Tupistra are also given.

Chromosomes, Plant↗

Yeast chromosomes have been significantly reshaped during their evolutionary history.

The structure of the first eukaryotic genome, belonging to Saccharomyces cerevisiae, has been deduced; however, very little is known about its origin. In order to trace events that led to the current state of the Saccharomyces nuclear genomes, random fragments of genomic DNA from three yeasts were sequenced and compared to the S. cerevisiae database sequence. Whereas, S. cerevisiae and Saccharomyces bayanus show perfect synteny, a significant portion of the analysed fragments from Saccharomyces servazzii and Saccharomyces kluyveri show a different arrangement of genes when compared to S. cerevisiae. When the sequenced fragments were probed to the corresponding karyotype, a group of genes present on a single chromosome of S. servazzii and S. kluyveri had homologues scattered on several S. cerevisiae chromosomes. Apparently, extensive reorganisation of the chromosomes has taken place during evolution of the Saccharomyces yeasts. In addition, while one gross duplication could have taken place, at least a few genes have been duplicated independently at different time-points in the evolution.

Chromosomes, Fungal↗

Analysis of inferred cytogenetic clonal evolution in a metastatic human ovarian carcinoma.

Cytogenetic analyses of solid tumors are hampered both by the difficulties in preparing high-quality banded metaphases and the high degree of karyotypic heterogeneity. Three specimens were obtained from a single patient with serous carcinoma for karyotyping and compared to determine whether the tumor was multifocal or metastatic. All three specimens were hypodiploid, sharing marker chromosomes, thus indicating metastasis. To simplify comparison between the specimens, a diagram of the inferred cytogenetic evolution of the cells analysed was developed. This method afforded a simple means of comparing the different tumor sites in a single patient and might also be applied to sequential samples from patients.

Chromosome Aberrations↗

Highly conserved chromosomes in an Asian squirrel (Menetes berdmorei, Rodentia: Sciuridae) as demonstrated by ZOO-FISH with human probes.

The chromosomes of Menetes berdmorei (Rodentia, Sciuridae, Sciurinae) were studied by ZOO-FISH using whole human chromosome probes. All homoeologies between M. berdmorei and human chromosomes were determined, except for two small chromosome segments. Twelve human chromosomes are conserved in a unique block of synteny; ten are split into two and one into three blocks. Thus, a small number of interchromosomal rearrangements, about twenty, separates human from this squirrel karyotype. Homoeologies between human and the presumed ancestral chromosomes of Sciurinae could also be deduced, as well as those with the presumed ancestral chromosomes of eutherian mammals. Sciurinae chromosomes appear to be much closer to those of non-rodent mammals than those of Muridae and Cricetidae species studied so far. Thus, they provide an interesting tool to link the rodent genome to those of other mammals.

Animals↗

Molecular cytogenetic analysis of the karyotype of the European Atlantic sturgeon, Acipenser sturio.

A karyotype analysis was carried out on the European Atlantic sturgeon, Acipenser sturio (2n=121 +/- 3). The telomeric sequence repeat (TTAGGG)n detected by fluorescent in situ hybridization (FISH) was mostly localized at the telomeres of all chromosomes. Ribosomal DNA (rDNA) genes were detected by silver staining techniques and by FISH with digoxigenin-labelled probe for 28S rDNA. Silver staining detected active NORs in the telomeric regions of six chromosomes, and by FISH one or two additional minor sites were detected. The 5S rDNA was found in the interstitial region of a small metacentric pair. The 5S rRNA gene was completely sequenced for the first time in a sturgeon species. The A. sturio karyotype organization is discussed in relation to phylogenesis of the species within the Acipenseridae and to polyploidization events characterizing sturgeon evolution.

Animals↗

Chromosomal evolution in Malagasy lemurs. IV. Chromosome banding studies in the genuses Phaner, Varecia, Lemur, Microcebus, and Cheirogaleus.

The karotypes of five species of Malagasy lemurs are described and compared with those of 12 previously studied species or subspecies. Based on these studies, phylogenetic relationships among nearly all the species of Cheirogaleidae and Lemuridae are proposed. The karyotype of the common ancestor is identical or very similar to that of Microcebus. Nearly 60 chromosomal changes, including five intrachromosomal rearrangements of the X chromosome, have been detected during the evolution of these two families. The possible evolutionary role of the different chromosomal rearrangements is discussed.

Animals↗

Tetraploid origin of the karyotype of catostomid fishes.

Catostomid fishes appear to have 2n(-->4n?) approximately 100 chromosomes. The Cyprinidae, from which catostomids probably diverged before the Eocene, usually have 2n = 48 or 50 chromosomes. Preliminary cytophotometric measurements indicate an approximate doubling of DNA content of cells among catostomids.

Animals↗

Mitochondrial DNA variation and the evolution of Robertsonian chromosomal races of house mice, Mus domesticus.

The house mouse, Mus domesticus, includes many distinct Robertsonian (Rb) chromosomal races with diploid numbers from 2n = 22 to 2n = 38. Although these races are highly differentiated karyotypically, they are otherwise indistinguishable from standard karyotype (i.e., 2n = 40) mice, and consequently their evolutionary histories are not well understood. We have examined mitochondrial DNA (mtDNA) sequence variation from the control region and the ND3 gene region among 56 M. domesticus from Western Europe, including 15 Rb populations and 13 standard karyotype populations, and two individuals of the sister species, Mus musculus. mtDNA exhibited an average sequence divergence of 0.84% within M. domesticus and 3.4% between M. domesticus and M. musculus. The transition/transversion bias for the regions sequenced is 5.7:1, and the overall rate of sequence evolution is approximately 10% divergence per million years. The amount of mtDNA variation was as great among different Rb races as among different populations of standard karyotype mice, suggesting that different Rb races do not derive from a single recent maternal lineage. Phylogenetic analysis of the mtDNA sequences resulted in a parsimony tree which contained six major clades. Each of these clades contained both Rb and standard karyotype mice, consistent with the hypothesis that Rb races have arisen independently multiple times. Discordance between phylogeny and geography was attributable to ancestral polymorphism as a consequence of the recent colonization of Western Europe by mice. Two major mtDNA lineages were geographically localized and contained both Rb and standard karyotype mice. The age of these lineages suggests that mice have moved into Europe only within the last 10,000 years and that Rb populations in different geographic regions arose during this time.

Animals↗

Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1.

Clear cell sarcoma of tendons and aponeuroses (CCS) is an uncommon malignancy characterized by a t(12;22)(q13;q12) causing a fusion of the EWS and ATF1 genes. We describe the cytogenetic and molecular genetic analyses of two lung metastases from a CCS patient. Both lesions presented the defining t(12;22) and a type 1 EWS/ATF1 chimeric transcript. The additional cytogenetic changes present in the two lesions allowed us to obtain some insight into the pathogenetic basis of disease progression. Four related clones were identified in the right lung metastasis, permitting a partial reconstitution of the stepwise clonal evolution, whereas the left lung metastasis presented yet another subclone. The comparison of the two karyotypes enabled us to pinpoint which changes occurred in the primary tumor and which emerged independently after the two metastases had been established. We conclude that both clonal divergence and convergence may be operative during tumor progression of CCS.

Adult↗