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Genes Jan 2023Amongst the 460 karyotypes of Polyphagan Coleoptera that we studied, 50 (10.8%) were carriers of an X autosome rearrangement. In addition to mitotic metaphase analysis,...
Amongst the 460 karyotypes of Polyphagan Coleoptera that we studied, 50 (10.8%) were carriers of an X autosome rearrangement. In addition to mitotic metaphase analysis, the correct diagnosis was performed on meiotic cells, principally at the pachytene stage. The percentages of these inter-chromosomal rearrangements, principally fusions, varied in relation to the total diploid number of chromosomes: high (51%) below 19, null at 19, low (2.7%) at 20 (the ancestral and modal number), and slightly increasing from 7.1% to 16.7% from 22 to above 30. The involvement of the X in chromosome fusions appears to be more than seven-fold higher than expected for the average of the autosomes. Examples of karyotypes with X autosome rearrangements are shown, including insertion of the whole X in the autosome (ins(A;X)), which has never been reported before in animals. End-to-end fusions (Robertsonian translocations, terminal rearrangements, and pseudo-dicentrics) are the most frequent types of X autosome rearrangements. As in the 34 species with a 19,X formula, there was no trace of the Y chromosome in the 50 karyotypes with an X autosome rearrangement, which demonstrates the dispensability of this chromosome. In most instances, C-banded heterochromatin was present at the X autosome junction, which suggests that it insulates the gonosome from the autosome portions, whose genes are subjected to different levels of expression. Finally, it is proposed that the very preferential involvement of the X in inter-chromosome rearrangements is explained by: (1) the frequent acrocentric morphology of the X, thus the terminal position of constitutive heterochromatin, which can insulate the attached gonosomal and autosomal components; (2) the dispensability of the Y chromosome, which considerably minimizes the deleterious consequences of the heterozygous status in male meiosis, (3) following the rapid loss of the useless Y chromosome, the correct segregation of the X autosome-autosome trivalent, which ipso facto is ensured by a chiasma in its autosomal portion.
Topics: Animals; Male; X Chromosome; Heterochromatin; Coleoptera; Y Chromosome; Sex Chromosomes
PubMed: 36672891
DOI: 10.3390/genes14010150 -
Nature Structural & Molecular Biology Aug 2023In mammals, X-chromosomal genes are expressed from a single copy since males (XY) possess a single X chromosome, while females (XX) undergo X inactivation. To compensate...
In mammals, X-chromosomal genes are expressed from a single copy since males (XY) possess a single X chromosome, while females (XX) undergo X inactivation. To compensate for this reduction in dosage compared with two active copies of autosomes, it has been proposed that genes from the active X chromosome exhibit dosage compensation. However, the existence and mechanisms of X-to-autosome dosage compensation are still under debate. Here we show that X-chromosomal transcripts have fewer mA modifications and are more stable than their autosomal counterparts. Acute depletion of mA selectively stabilizes autosomal transcripts, resulting in perturbed dosage compensation in mouse embryonic stem cells. We propose that higher stability of X-chromosomal transcripts is directed by lower levels of mA, indicating that mammalian dosage compensation is partly regulated by epitranscriptomic RNA modifications.
Topics: Male; Female; Animals; Mice; Methylation; Dosage Compensation, Genetic; X Chromosome; Mammals; RNA Stability
PubMed: 37202476
DOI: 10.1038/s41594-023-00997-7 -
BioEssays : News and Reviews in... Feb 2011A new study in Caenorhabditis elegans shows that homologous autosomes segregate non-randomly with the sex chromosome in the heterogametic sex. Segregation occurs... (Review)
Review
Non-random autosome segregation: a stepping stone for the evolution of sex chromosome complexes? Sex-biased transmission of autosomes could facilitate the spread of antagonistic alleles, and generate sex-chromosome systems with multiple X or Y chromosomes.
A new study in Caenorhabditis elegans shows that homologous autosomes segregate non-randomly with the sex chromosome in the heterogametic sex. Segregation occurs according to size, small autosomes segregating with, and large autosomes segregating away from the X-chromosome. Such sex-biased transmission of autosomes could facilitate the spread of sexually antagonistic alleles whose effects favor the fitness of one sex at the expense of the other. This may provide a first step toward the evolution of new sex determination systems.
Topics: Alleles; Animals; Biological Evolution; Caenorhabditis elegans; Chromosome Segregation; Drosophila melanogaster; Gene Frequency; Sex Chromosome Aberrations; Sex Determination Processes; X Chromosome; Y Chromosome
PubMed: 21154781
DOI: 10.1002/bies.201000106 -
Proceedings of the National Academy of... Jun 2011Evolutionary conflicts cause opponents to push increasingly hard and in opposite directions on the regulation of traits. One can see only the intermediate outcome from... (Review)
Review
Evolutionary conflicts cause opponents to push increasingly hard and in opposite directions on the regulation of traits. One can see only the intermediate outcome from the balance of the exaggerated and opposed forces. Intermediate expression hides the underlying conflict, potentially misleading one to conclude that trait regulation is designed to achieve efficient and robust expression, rather than arising by the precarious resolution of conflict. Perturbation often reveals the underlying nature of evolutionary conflict. Upon mutation or knockout of one side in the conflict, the other previously hidden and exaggerated push on the trait may cause extreme, pathological expression. In this regard, pathology reveals hidden evolutionary design. We first review several evolutionary conflicts between males and females, including conflicts over mating, fertilization, and the growth rate of offspring. Perturbations of these conflicts lead to infertility, misregulated growth, cancer, behavioral abnormalities, and psychiatric diseases. We then turn to antagonism between the sexes over traits present in both males and females. For many traits, the different sexes favor different phenotypic values, and constraints prevent completely distinct expression in the sexes. In this case of sexual antagonism, we present a theory of conflict between X-linked genes and autosomal genes. We suggest that dysregulation of the exaggerated conflicting forces between the X chromosome and the autosomes may be associated with various pathologies caused by extreme expression along the male-female axis. Rapid evolution of conflicting X-linked and autosomal genes may cause divergence between populations and speciation.
Topics: Animals; Biological Evolution; Female; Genes, X-Linked; Humans; Male; Selection, Genetic; Sex Characteristics; Sexual Behavior
PubMed: 21690397
DOI: 10.1073/pnas.1100921108 -
Chromosome Research : An International... Sep 2016The recurrent occurrence of sex-autosome translocations during mammalian evolution suggests common mechanisms enabling a precise control of meiotic synapsis,...
The recurrent occurrence of sex-autosome translocations during mammalian evolution suggests common mechanisms enabling a precise control of meiotic synapsis, recombination and inactivation of sex chromosomes. We used immunofluorescence and FISH to study the meiotic behaviour of sex chromosomes in six species of Bovidae with evolutionary sex-autosome translocations (Tragelaphus strepsiceros, Taurotragus oryx, Tragelaphus imberbis, Tragelaphus spekii, Gazella leptoceros and Nanger dama ruficollis). The autosomal regions of fused sex chromosomes showed normal synapsis with their homologous counterparts. Synapsis in the pseudoautosomal region (PAR) leads to the formation of characteristic bivalent (in T. imberbis and T. spekii with X;BTA13/Y;BTA13), trivalent (in T. strepsiceros and T. oryx with X/Y;BTA13 and G. leptoceros with X;BTA5/Y) and quadrivalent (in N. dama ruficollis with X;BTA5/Y;BTA16) structures at pachynema. However, when compared with other mammals, the number of pachynema lacking MLH1 foci in the PAR was relatively high, especially in T. imberbis and T. spekii, species with both sex chromosomes involved in sex autosome translocations. Meiotic transcriptional inactivation of the sex-autosome translocations assessed by γH2AX staining was restricted to their gonosomal regions. Despite intraspecies differences, the evolutionary fixation of sex-autosome translocations among bovids appears to involve general mechanisms ensuring sex chromosome pairing, synapsis, recombination and inactivation.
Topics: Animals; Chromosome Painting; Chromosome Pairing; Chromosome Segregation; Fluorescent Antibody Technique; In Situ Hybridization, Fluorescence; Meiosis; Ruminants; Sex Chromosomes; Translocation, Genetic
PubMed: 27136937
DOI: 10.1007/s10577-016-9524-x -
Epigenetics & Chromatin May 2023Patients with balanced X-autosome translocations and premature ovarian insufficiency (POI) constitute an interesting paradigm to study the effect of chromosome...
BACKGROUND
Patients with balanced X-autosome translocations and premature ovarian insufficiency (POI) constitute an interesting paradigm to study the effect of chromosome repositioning. Their breakpoints are clustered within cytobands Xq13-Xq21, 80% of them in Xq21, and usually, no gene disruption can be associated with POI phenotype. As deletions within Xq21 do not cause POI, and since different breakpoints and translocations with different autosomes lead to this same gonadal phenotype, a "position effect" is hypothesized as a possible mechanism underlying POI pathogenesis.
OBJECTIVE AND METHODS
To study the effect of the balanced X-autosome translocations that result in POI, we fine-mapped the breakpoints in six patients with POI and balanced X-autosome translocations and addressed gene expression and chromatin accessibility changes in four of them.
RESULTS
We observed differential expression in 85 coding genes, associated with protein regulation, multicellular regulation, integrin signaling, and immune response pathways, and 120 differential peaks for the three interrogated histone marks, most of which were mapped in high-activity chromatin state regions. The integrative analysis between transcriptome and chromatin data pointed to 12 peaks mapped less than 2 Mb from 11 differentially expressed genes in genomic regions not related to the patients' chromosomal rearrangement, suggesting that translocations have broad effects on the chromatin structure.
CONCLUSION
Since a wide impact on gene regulation was observed in patients, our results observed in this study support the hypothesis of position effect as a pathogenic mechanism for premature ovarian insufficiency associated with X-autosome translocations. This work emphasizes the relevance of chromatin changes in structural variation, since it advances our knowledge of the impact of perturbations in the regulatory landscape within interphase nuclei, resulting in the position effect pathogenicity.
Topics: Female; Humans; Primary Ovarian Insufficiency; Translocation, Genetic; Gene Expression Regulation; Gene Expression; Chromatin
PubMed: 37202802
DOI: 10.1186/s13072-023-00493-8 -
Evolution; International Journal of... Feb 2020Males and females have different optimal values for some traits, such as body size. When the same genes control these traits in both sexes, selection pushes in opposite...
Males and females have different optimal values for some traits, such as body size. When the same genes control these traits in both sexes, selection pushes in opposite directions in males and females. Alleles at autosomal loci spend equal amounts of time in males and females, suggesting that the sexually antagonistic selective forces may approximately balance between the opposing optima. Frank and Crespi noted that alleles on the X chromosome spend twice as much time in diploid females as in haploid males. That distinction between the sexes may tend to favor X-linked genes that push more strongly toward the female optimum than the male optimum. The female bias of X-linked genes opposes the intermediate optimum of autosomal genes, potentially creating a difference between the direction of selection on traits favored by X chromosomes and autosomes. Patten has recently argued that explicit genetic assumptions about dominance and the relative magnitude of allelic effects may lead X-linked genes to favor the male rather than the female optimum, contradicting Frank and Crespi. This article combines the insights of those prior analyses into a new, more general theory. We find some parameter combinations for X-linked loci that favor a female bias and other parameter combinations that favor a male bias. We conclude that the X likely contains a mosaic pattern of loci that differ with autosomes over sexually antagonistic traits. The overall tendency for a female or male bias on the X depends on prior assumptions about the distribution of key parameters across X-linked loci. Those parameters include the dominance coefficient and the way in which ploidy influences the magnitude of allelic effects.
Topics: Animals; Chromosomes; Female; Male; Models, Genetic; Sexual Behavior, Animal; X Chromosome
PubMed: 31885085
DOI: 10.1111/evo.13918 -
Chromosome Research : An International... 2004Sibling subspecies of Dundocoris nodulicarinus, inhabiting different isolated indigenous evergreen forests in South Africa, have chromosome numbers of 2n(male) = 14XY,... (Review)
Review
Sibling subspecies of Dundocoris nodulicarinus, inhabiting different isolated indigenous evergreen forests in South Africa, have chromosome numbers of 2n(male) = 14XY, 9XY1Y2 and 7XY1Y2. The ancestral chromosome number of Dundocoris is probably 2n(male) = 28XY and several chromosome fusions were involved in the karyotype evolution of these taxa. The XY1Y2 sex chromosome system of the 9XY1Y2 D. nodulicarinus novenus originated by the fusion of a large autosome with the X-chromosome, forming a neo-X with the homologue of the fused autosome forming the neo-Y (=Y1) and the original Y-chromosome, the Y2. While the original X- and Y-chromosomes are heterochromatic and heteropycnotic during prophase I, the autosomal part of the neo-X and the neo-Y stay euchromatic and behave like a normal autosomal pair, forming synapsis and chiasmata. The XY1Y2 sex chromosome system of the 7XY1Y2 D. nodulicarinus septeni probably originated from the 9XY1Y2 karyotype when the homologous chromosomes of a small autosomal pair fused with the original X- and Y-chromosomes, respectively. In both the subspecies with the neo-XY1Y2 systems, the original sex chromosomes still undergo chromatid segregation at anaphase I (= post-reductional). The evolution and behaviour of the karyotypes and sex chromosome systems during the course of meiosis in the subspecies of D. nodulicarinus are described, discussed and illustrated.
Topics: Animals; Evolution, Molecular; Female; Genetics, Population; Heterochromatin; Heteroptera; Karyotyping; Male; Meiosis; Sexual Behavior, Animal; X Chromosome; Y Chromosome
PubMed: 15053487
DOI: 10.1023/b:chro.0000013155.99614.57 -
Human Genetics 1982To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal...
To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected distribution. The analysis of different patterns of inactivation seems to confirm that the inactivation could occur at random, but would be followed by a cellular selection favoring the better genetic balance. An estimate of the incidence of t(X-Aut) is proposed, based upon the conclusions that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.
Topics: Chromosome Banding; Chromosomes, Human; Dosage Compensation, Genetic; Female; Humans; Infertility; Male; Meiosis; Phenotype; Sex Chromosomes; Translocation, Genetic; X Chromosome
PubMed: 7152515
DOI: 10.1007/BF00276593 -
G3 (Bethesda, Md.) Apr 2015X chromosome dosage compensation is required for male viability in Drosophila. Dosage compensation relative to autosomes is two-fold, but this is likely to be due to a...
X chromosome dosage compensation is required for male viability in Drosophila. Dosage compensation relative to autosomes is two-fold, but this is likely to be due to a combination of homeostatic gene-by-gene regulation and chromosome-wide regulation. We have baseline values for gene-by-gene dosage compensation on autosomes, but not for the X chromosome. Given the evolutionary history of sex chromosomes, these baseline values could differ. We used a series of deficiencies on the X and autosomes, along with mutations in the sex-determination gene transformer-2, to carefully measure the sex-independent X-chromosome response to gene dosage in adult heads by RNA sequencing. We observed modest and indistinguishable dosage compensation for both X chromosome and autosome genes, suggesting that the X chromosome is neither inherently more robust nor sensitive to dosage change.
Topics: Animals; Chromosomes, Insect; Databases, Genetic; Dosage Compensation, Genetic; Drosophila melanogaster; Female; Head; Male; Molecular Sequence Data; Sequence Analysis, RNA; X Chromosome
PubMed: 25850426
DOI: 10.1534/g3.115.017632