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The diminution of Heterochromatic chromosomal segments in Cyclops (Crustacea, Copepoda).

The chromosomes of Cyclops divulsus, C. furcifer, and C. strenuus, like those of several other Copepods, undergo a striking diminution of chromatin early in embryogenesis. The process is restricted to the presumptive soma cells and occurs at the 5th cleavage in C. divulsus, at the 6th and 7th in C. furcifer, and at the 4th in C. strenus. The eliminated chromatin derives from the excision of heterochromatic chromosome segments (H-segments). Their chromosomal location is different in the three investigated species: Whereas in C. divulsus and C. furcifer the H-segments form large blocks-exclusively terminal in the former and terminal as well as kinetochoric in the latter-the germ line heterochromatin in C. strenuus is scattered all along the chromosomes. Extensive polymorphism exists with respect to the length of the terminal H-segments in C. furcifer, and with respect to the overall content of heterochromatin in the chromosomes of C. strenuus. In a local race of C. strenuus an extreme form of dimorphism has been found which is sex limited: females as a fule are heterozygous for an entire set of large (heterochromatin-rich), and a second set of small chromosomes in their germ line. Males are homozygous for the large set. In the first three cleavage divisions the H-polymorphism is solely expressed through differences of chromosome length. Following diminution the differences between homologous have disappeared. Feulgen cytophotometry demonstrates that in the three species the 1C DNA value for the germ line, as measured in sperm, is about twice that measured in somatic mitoses (germ line/soma C-values in picograms of DNA: C. strenuus 2.2/0.9, C. furcifer 2.9/1.44, C. divulsus 3.1/1.8). - The data imply that chromatin diminution is based on a mechanism which allows specific DNA segments, regardless of their location and size, to be cut out from the chromosomes without affecting the structural continuity of the remaining DNA. The mechanism may be analogous to that of prokaryotic DNA excision.

Animals

Correlations between chromosome segments and fitness in Drosophila melanogaster. I. The X chromosome and egg production.

Unmarked segments within the X chromosomes of four different Drosophila melanogaster isogenic lines were assessed with respect to egg production. By making a series of crosses among original and derived recombinant lines, it was possible to estimate parameters representing additive, dominance and interaction effects of the segments. It was shown that whereas most of the segments were additive for egg production when homozygous, they all displayed dominance in the heterozygous condition. Two of the strains were characterized by intersegmental interaction. A possible position effect was detected for these same two strains, with flies in the coupling phase laying more eggs than those in the repulsion configuration. There was no apparent relationship between the number of eggs laid and the amount of heterozygosity within the X chromosome.

Animals

A long unidentifiable extra chromosomal segment--a possible duplication of human 7q.

Limitation of current techniques in identifying extra chromosomal segments arising de novo is illustrated by a putative case of a duplication of the long arm of chromosome 7. The propositus, demonstrating multiple congenital anomalies and severe mental retardation, had a large extra segment of chromatin on chromosome 7q that was absent in his parents. The banding pattern of this segment resembled that of the long arm of chromosomes 7, 8, or 9. Various procedures indicated that the additional material did not include the secondary constriction of 9q. The phenotype of the propositus did not fit well with that of trisomy 8.

Abnormalities, Multiple

Genetic control of mitochondrial malate dehydrogenases: evidence for duplicated chromosome segments.

The genetic control of the major mitochondrial isoenzymes of malate dehydrogenase (L-malate:NAD+ oxidoreductase; EC 1.1.1.37) has been investigated in Zea mays. The mitochondrial isozymes are coded at four nuclear gene loci. Two of the loci (mdh1 and mdh2) are diallelic and tightly linked. The other two loci (mdh3 and mdh4) appear to have arisen by duplication of the chromosome segment carrying mdh1 and mdh2, but are not linked to them. The segregation of such a duplicate segment can explain anomalous backcross and F2 segregation ratios.

Alleles

Putative evolution of Myxococcus fulvus 124B02 plasmid pMF1 from a chromosomal segment in another Myxococcus species.

Myxobacteria or order Myxococcales (old nomenclature) or phylum Myxococcota (new terminology) are fascinating organisms well known for their diverse peculiar physiological, taxonomic, and genomic properties. Researchers have long sought to identify plasmids within these organisms, yet thus far, only two organisms from different families have been found to harbor a plasmid. This study delves into the putative evolution of one of these plasmids, i.e., pMF1 present in Myxococcus fulvus 124B02 in the suborder Cystobacterineae and family Myxococcaceae. Here, we first reannotated the pMF1 plasmid genome sequence and identified two additional open reading frames or putative genes which were not annotated until now. We further reported that all pMF1 plasmid genes depict homology with Myxococcus stipitatus CYD1 draft genome (contig 28) and a chromosomal segment of M. stipitatus DSM14675 in a syntenic manner, implying the presence of plasmid-like structure in M. stipitatus CYD1, integrated into its chromosome. To comprehend the relationship among these three species, we conducted phylogenetic analyses using 16S and concatenated housekeeping genes and genome-to-genome distance calculator (GGDC) analysis, which confirmed that M. stipitatus CYD1 is a distinct and novel species within the genus Myxococcus. Overall, this comparative genomic study sheds light on the putative emergence of the pMF1 plasmid from a common ancestor of closely related yet distinct species, M. stipitatus CYD1, possibly through the partition from its chromosome as a segment.IMPORTANCEMyxobacteria are not well known to have plasmids. Until now, only two organisms have been shown to have plasmids, raising a pertinent question about how these plasmids evolved randomly within the phylum Myxococcota. The study presented in this manuscript delves into the emergence of the pMF1 plasmid found in Myxococcus fulvus 124B02, a member of the suborder Cystobacterineae and family Myxococcaceae. Our research addresses this intriguing topic of plasmid identification and evolution within myxobacteria, which are a group of fascinating organisms that have garnered significant interest due to their diverse physiological, taxonomic, and genomic properties.

Plasmids

Correlations between chromosome segments and fitness in Drosophila melanogaster III. Differential genetic responses to zinc sulfate and selenocystine.

Genetic X environmental interactions are examined at an intrachromosomal level in Drosophila melanogaster. With respect to two fitness components, egg production and egg-to-adult viability, evidence is provided that different segments of the X chromosome are affected differently by each of the chemical substances, zinc sulfate and selenocystine. The extent of a segment's effect on a trait is not always parallelled by the extent of its association with that trait's sensitivity to chemical treatment. Both attributes are functions of the genetical background. The degree of dominance of each segment is not always greater in the chemical environments, a finding inconsistent with Parson's concept of "extreme-environment heterosis".

Animals

Evolutionary conservation of large chromosomal segments reflected in mammalian gene maps.

Conservation of genetic linkage over long periods of time is exemplifted. Comparisons are made between chromosomal regions in different species as well as within two species, man and the house mouse. Homologous regions are defined and the phenomenon of differential silencing of genes is described. The importance of conservation of particular sequences of genes is discussed in relation to medical genetics, animal breeding, evolutionary theory and genetic regulation.

Animals

Replacement of chromosome segments with altered DNA sequences constructed in vitro.

We have developed a method that may be of general application for the stable introduction of foreign sequences or deletions, constructed in vitro, into the chromosomes of Saccharomyces cerevisiae. No vector sequences are present in the final strains. Ability to transform cells with DNA, availability of a single selective marker, and integration of the transforming DNA by homologous recombination into the chromosomes are the requirements of the system. Any isolated gene can be deleted or altered and then be used to replace the wild-type chromosomal copy. An internal deletion mutant of the his3 gene and a transposition of a galactose-inducible region into chromosome XV have been generated by using the ura3 gene as the selective marker.

Chromosomes

Proximal chiasma localization within an interstitial chromosome segment, a likely correlate of adjacent-2 segregation of translocation causing multivalents in the mouse.

Two T7OH/+ translocation-carrying male mice were used in an investigation into the relation between the segregation pattern of the translocation caused multivalent at anaphase I and the position of the only chiasma in a long interstitial segment. Moreover, the relation between meiotic stage (from early diakinesis to metaphase I) and chiasma movement was assessed. It appeared that pronounced movement of a chiasma within the multivalent was linked with chiasma terminalization in an adjacent segment, either on the same side of the translocation breakpoint or on the other side. On summing the CIV and CIII+I configurations (making up 97.9% of all configurations found) and focusing on the multivalents from late meiotic cells, 41.3% had a proximal chiasma in the long interstitial segment of the multivalent. In total, a percentage of 33.5% of all secondary spermatocytes were characteristic of adjacent-2 segregation (i.e., homologous centromeres move to the same pole at anaphase I). Results obtained with T7OH translocation trisomics, which are briefly discussed in this paper, confirm the tendency of proximal chiasma frequencies in late meiotic cells to coincide with the frequency of absence of homologous centromere separation within the T7OH translocation multivalent. The importance of this phenomenon for normal bivalent behavior during anaphase I is considered.

Anaphase

Segmentation of human chromosomes induced by 5-ACR (5-azacytidine).

The 5-ACR (5-azacytidine) introduced in human lymphocyte cultures induces a lack or a delay of condensation of some chromosome segments corresponding to the G-bands. The resulting R-banding is very similar to that obtained with a 7-h treatment by BrdU, although the segmentation may be much stronger (pulverization) with high doses. However, the 5-ACR does not induce chromatid asymmetry, as BrdU does. This constitutes a new argument for considering that the segmentation and the asymmetry of chromatids depend, at least partly, on two different mechanisms, where proteins are probably involved. Another effect of 5-ACR is to increase chromosome associations by satellites, secondary constrictions, and telomeric regions.

Azacitidine

Frequency of chromosomal fluorescence polymorphism in normal persons and in clinical patients with diagnosed chromosome aberrations.

By means of a computer program the frequencies of the strongly fluorescent polymorphous chromosomal segments on chromosomes Nos. 3, 4, 13, 14, 15, 21, and 22 among 89 random normal persons and 247 persons suspected of having various chromosome aberrations were determined. It was discovered that: 1. In none of the 13 diagnosis categories are divergencies in frequency of autosomal fluorescence polymorphism, as compared to the normal group, statistically determinable. 2. A worthwhile comparison of the various frequencies of fluorescence polymorphism as recorded by the various investigators in not possible at present, since the applied methods of assessment differ too widely. 3. Standardization of the criteria of assessment and of the nomenclature for the polymorphous chromosomal segment would seem to be a matter of urgent necessity.

Chromosome Aberrations

RNA transcription and chromatin structure during meiotic and postmeiotic stages of spermatogenesis.

Autoradiographic procedures for the study of RNA and protein synthesis during spermatogenesis have been complemented with electron microscope techniques for visualization of gene activity. These procedures have enabled us to determine that RNA transcription is highly selective with respect to RNA species, timing of synthesis, types of chromosomes (autosomes and sex chromosomes), segments of chromosomes (i.e., the lampbrush segment), and chromatin structure. In mouse and human spermatocytes, a peak production of ribosomal RNA (rRNA) occurs during leptotene-zygotene, preceding nonnucleolar RNA synthesis, which is at a peak in middle pachytene. Transcription in late spermatids decreases in coincidence with changes in chromatin structure and high incorporation rates of [3H]arginine. In these cells, a particulate repeating pattern of chromatin is replaced by chromatin fibers of uniform diameter as highly arginine-rich proteins replace somatic histones. In spermatogonia, spermatocytes and Sertoli cells, the products of transcription are mainly heterogeneous nuclear RNA (hnRNA) and rRNA, whereas spermatids transcribe predominantly hnRNA during early spermiogenesis. Persistent long-lived [3H]-uridine-labeled RNA species in pachytene spermatocyte nuclei contrast with a fast turnover of [3H]uridine-labeled RNA in Sertoli cells as detected at the same pulse labeling time (8--12 days). From these results one can postulate a still undefined control mechanism of gene expression during spermatogenesis for modulating a cascade of events required for male gamete formation.

Animals

Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic suture, long and markedly curved eyelashes, a stubby nose, increased distance between nose and upper lip, high-arched palate, misshapen ears with virtually absent lobules and prominent anthelices which are curved in a sharp angle, and hemangiomata. Features present in 2 cases were microcephaly, long and narrow fingers with convex nails, and hexadactyly. Two cousins were unbalanced offspring of a large family of carriers of a 9/13 translocation, whereas the third case exhibited a 13p+ chromosome which was formed de novo. The clinical features in the 3 patients are typical of the syndrome due to partial trisomy for the distal segment of chromosome 13 which shows selected and mitigated signs of full trisomy 13.

Abnormalities, Multiple

The curious case of sporadic nematode susceptibility in "Tifguard" peanut (Arachis hypogaea): seed mixture or genetic instability?

The Runner-type peanut (Arachis hypogaea L.) cultivar "Tifguard" carries an introgressed chromosomal segment on chromosome A09 from A. cardenasii that confers resistance to root-knot nematode (RKN). Despite this, a proportion of "Tifguard" plants show RKN symptoms, which could plausibly be attributed to seed mixture or outcrossing. However, recent work has shown that cultivated peanut exhibits surprisingly frequent large-scale chromosomal instability (1% to 5%); suggesting that resistance loss could arise from spontaneous structural genomic change. To test these possibilities, we grew foundation seed in an RKN-infested field and collected symptomatic and asymptomatic plants. Lineages derived by single-seed descent were genotyped using the Axiom Arachis 48K SNP array v2 and whole-genome sequencing. Symptomatic lineages lacked the A. cardenasii introgression on chromosome A09 and instead carried the complete endogenous A. hypogaea A09 region at the expected dosage. There was no evidence of large-scale homoeologous exchange, deletion, or other genomic instability affecting this chromosome. Most susceptible plants were closely related to resistant "Tifguard" but lacked the A09 introgression, with a smaller proportion assignable to known nematode-susceptible cultivars, implicating seed mixture with a possible contribution from cross-pollination rather than genomic instability. Because resistance depends on a single major-effect segment, rare events have disproportionate phenotypic impact, placing high demands on genetic purity. For important traits conferred by major loci, marker-based testing across seed-increase stages could verify trait retention directly, and is increasingly practical as marker costs decline.

Arachis

Mutagenicity and carcinogenicity of N-methyl-N'-nitro-N-nitrosoguanidine I. Induction of chromosome aberrations and mitotic anomalies in Chinese hamster ovary cells.

Cultured chinese hamster ovary (CHO) cells were exposed to different concentrations of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) for either 24 hr or 6 days. For cytological consequences of MNNG exposure, CHO cells were treated for 24 hr and allowed a 24 hr recovery period prior to analysis; for the estimation of cytotoxicity of MNNG, cells were treated for 6 days followed by a 6 day recovery period. The cytotoxic effect of MNNG based on the colony-forming ability of treated cells showed a semi-logarithmic decrease in the number of colonies formed with an increase in MNNG concentration. The data on the cytological effect of MNNG on CHO cells demonstrate that the chemical causes both structural and numerical chromosomal anomalies and that the incidence of each aberration type is influenced by MNNG concentration. Karyomorphological analysis of CHO cells treated for 24 hr and fixed after four cell cycles showed a varied chromosome constitution ranging from 18 to 54. Chromosomal structural changes arising from breaks and/or exchanges were of chromatid types. Distribution of breaks along the length of the chromosomes and among chromosomes showed that no chromosome segment or chromosome was preferentially susceptible to the clastogenic effect of MNNG. MNNG-induced chromosomal rearrangements, such as ring configurations, exchanges, and dicentrics, exceeded such cytological errors as fragments and pulverizations. In a descending order of magnitude the induced structural rearrangements were ring chromosomes, triradials, quadriradials, and dicentrics.

Animals