Segmental pycnotic reversion of facultative heterochromatin during the second male meiosis in tettigonioid species (Orthoptera)

Genome ◽  
1987 ◽  
Vol 29 (4) ◽  
pp. 570-577 ◽  
Author(s):  
J. Fernández Piqueras ◽  
C. Sentís
Keyword(s):  
X Chromosome ◽  
Male Meiosis ◽  
Silver Impregnation ◽  
Telomeric Region ◽  
Impregnation Method ◽  
Facultative Heterochromatin ◽  
X Chromosomes ◽  
Chromosomal Proteins ◽  
Tandem Fusion ◽  
Facultative Heterochromatinization

The X chromosome invariably exhibits isopycnosis during the most condensed stages of male meiosis after conventional staining procedures in all studied species of Tettigonioidea (Orthoptera). However, differential negative staining of the X chromosome can be achieved during these stages by a silver impregnation method after extraction of chromosomal proteins with 2 × SSC. This differential response to silver may be indicative of a distinctive chromatin organization in the X chromosome with respect to that of the autosomes. Following 2 × SSC – silver impregnation treatment, pycnotic reversion of part of the X chromosome can be observed from the metaphase II stage on in tettigonioids. Pycnotic reversion is initiated from the telomeric region of the X chromosome in the subfamily Ephyppigerinae, while in the subfamily Pycnogastrinae pycnotic reversion occurs at the centromeric region of this chromosome. These two modes of segmental pycnotic reversion may indicate the onset of a reversion of the facultative heterochromatinized state of the X chromosome (euchromatinization) during male meiosis in tettigonioids. An initiation center may be postulated for this process that is located either at the end distal to or proximal to the centromere of the X chromosome. This hypothesis is supported by the observed pycnotic behaviour of neo-X chromosomes in two different neo-XY systems, one involving centric and the other tandem fusion. Facultative heterochromatinization never involves the autosomally derived segments (XR) of the neo-X chromosomes. Occasional failures in the heterochromatinization process of part of the X chromosome, as well as of the neo-X chromosome, in two species suggests that both facultative heterochromatinization and its reversion are two processes that act segmentally. Key words: male meiosis, X chromosome, facultative heterochromatin, segmental euchromatinization.

scholarly journals ERRORS IN THE ELIMINATION OF X CHROMOSOMES IN SCIARA OCELLARIS

Genetics ◽  
1980 ◽  
Vol 94 (3) ◽  
pp. 663-673 ◽  
Author(s):  
Lyria Mori ◽  
A L P Perondini
Keyword(s):  
X Chromosome ◽  
Chromosome Elimination ◽  
Male Meiosis ◽  
Early Embryogenesis ◽  
Maternal Influence ◽  
Recessive Mutation ◽  
X Chromosomes ◽  
Heterozygous Condition ◽  
Selective Elimination

ABSTRACT It was previously assumed that the X-linked recessive mutation, sepia, induced errors in X-chromosome elimination during early embryogenesis of Sciam ocellaris. The results obtained in the present analysis corroborate this assumption and permit a further classification of the type of error this mutation induces. Among 85,244individuals analyzed, three kinds of aberrant flies were identified: mosaics (0.01 %), gynandromorphs (0.42%)and phenotypically exceptional individuals (0.25%).The origin ofthese abnormal flies could be ascribed to errors in selective elimination of X chromosomes that occur in male meiosis or during the early cleavages of the zygote nuclei. This last kind of error could be classified into three types: (a) error in number, (b) error in type, and (c) error in number and type of X chromosome eliminated. Evidence is provided indicating that sepia has no direct effect on the X chromosome; it has a maternal influence and exerts its effect only in the heterozygous condition.

scholarly journals Xist imprinting is promoted by the hemizygous (unpaired) state in the male germ line

2015 ◽  
Vol 112 (47) ◽  
pp. 14415-14422 ◽  
Author(s):  
Sha Sun ◽  
Bernhard Payer ◽  
Satoshi Namekawa ◽  
Jee Young An ◽  
William Press ◽  
...  
Keyword(s):  
X Chromosome ◽  
Germ Line ◽  
Transgenic Animals ◽  
Early Embryo ◽  
Male Meiosis ◽  
Meiotic Pairing ◽  
Male Germ Line ◽  
Specific Expression ◽  
X Chromosomes ◽  
High Level

The long noncoding X-inactivation–specific transcript (Xist gene) is responsible for mammalian X-chromosome dosage compensation between the sexes, the process by which one of the two X chromosomes is inactivated in the female soma. Xist is essential for both the random and imprinted forms of X-chromosome inactivation. In the imprinted form, Xist is paternally marked to be expressed in female embryos. To investigate the mechanism of Xist imprinting, we introduce Xist transgenes (Tg) into the male germ line. Although ectopic high-level Xist expression on autosomes can be compatible with viability, transgenic animals demonstrate reduced fitness, subfertility, defective meiotic pairing, and other germ-cell abnormalities. In the progeny, paternal-specific expression is recapitulated by the 200-kb Xist Tg. However, Xist imprinting occurs efficiently only when it is in an unpaired or unpartnered state during male meiosis. When transmitted from a hemizygous father (+/Tg), the Xist Tg demonstrates paternal-specific expression in the early embryo. When transmitted by a homozygous father (Tg/Tg), the Tg fails to show imprinted expression. Thus, Xist imprinting is directed by sequences within a 200-kb X-linked region, and the hemizygous (unpaired) state of the Xist region promotes its imprinting in the male germ line.

scholarly journals Studies on Metatherian Sex Chromosomes III. The Use of Tritiated Uridine-induced Chromosome Aberrations to Distinguish Active and Inactive X Chromosomes

1977 ◽  
Vol 30 (2) ◽  
pp. 103 ◽  
Author(s):  
Jennifer A Donald ◽  
DW Cooper
Keyword(s):  
X Chromosome ◽  
Sex Chromosomes ◽  
Chromosome Aberrations ◽  
X Inactivation ◽  
Facultative Heterochromatin ◽  
Hybrid Female ◽  
X Chromosomes ◽  
Toxicity Effect ◽  
Red Kangaroo ◽  
Chromosome Regions

The paternal X inactivation system of kangaroos has been investigated in this study by using tritiated uridine-induced chromosome aberrations to distinguish the active from the inactive X. Previous work in eutherian mammals has demonstrated that constitutive heterochromatic chromosome regions are less susceptible to breakage by tritiated uri dine than euchromatic regions. The results of a comparison between the paternal X chromosome of a wallaroo x red kangaroo hybrid female and the two X chromosomes of a red kangaroo female suggested that the facultative heterochromatin of the X is also less susceptible to breakage by this treatment. However there were significantly more breaks of the paternal X in fibroblasts than in lymphocytes of the hybrid female, which agrees with biochemical findings suggesting activation of the paternal X in fibroblasts. Our results strengthen the suggestion of other workers that the reduced number of aberrations in heterochromatin occurs because such breaks occur principally when the DNA and labelled RNA are in apposition during transcription. Some evidence was found of an apparent toxicity effect of the tritiated uridine solution on the cells.

Incomplete sister chromatid separation is the mechanism of programmed chromosome elimination during early Sciara coprophila embryogenesis

Development ◽  
1996 ◽  
Vol 122 (12) ◽  
pp. 3775-3784 ◽  
Author(s):  
B. de Saint Phalle ◽  
W. Sullivan
Keyword(s):  
X Chromosome ◽  
Sister Chromatid ◽  
Metaphase Plate ◽  
Chromosome Elimination ◽  
Male Meiosis ◽  
X Chromosomes ◽  
Controlling Element ◽  
Sister Chromatid Separation ◽  
The Individual ◽  
In Cis

Sex in Sciara coprophila is determined by maternally supplied factors that control the number of paternal X chromosomes eliminated during the syncytial embryonic divisions. Confocal microscopy and FISH demonstrate that the centromeres of the X chromosomes separate at anaphase and remain functional during the cycle in which the X chromosomes are eliminated. However, a region of the sister chromatids fails to separate and the X chromosomes remain at the metaphase plate. This indicates that failure of sister chromatid separation is the mechanism of chromosome elimination. Elimination of the X chromosomes requires the presence of a previously discovered Controlling Element that acts in cis during male meiosis. Using an X-autosome translocation, we demonstrate that the Controlling Element acts at-a-distance to prevent sister chromatid separation in the arm of an autosome. This indicates that the region in which sister chromatid separation fails is chromosome-independent. Although chromosome elimination occurs in all somatic nuclei and is independent of location of the nuclei within the embryo, the decision to eliminate is made at the level of the individual nucleus. Programmed X chromosome elimination occurs at different cycles in male and female embryos. These observations support a model in which elements on the X chromosome are titrating maternally supplied factors controlling the separation of sister X chromatids.

scholarly journals Late Replication of the Inactive X Chromosome Is Independent of the Compactness of Chromosome Territory in Human Pluripotent Stem Cells

Acta Naturae ◽  
2013 ◽  
Vol 5 (2) ◽  
pp. 54-61
Author(s):  
A. V. Panova ◽  
E. D. Nekrasov ◽  
M. A. Lagarkova ◽  
S. L. Kiselev ◽  
A. N. Bogomazova
Keyword(s):  
Stem Cells ◽  
X Chromosome ◽  
Pluripotent Stem Cells ◽  
Replication Timing ◽  
Chromosome Territory ◽  
Late Replication ◽  
Facultative Heterochromatin ◽  
X Chromosomes ◽  
Inactive X Chromosome ◽  
The Status

Dosage compensation of the X chromosomes in mammals is performed via the formation of facultative heterochromatin on extra X chromosomes in female somatic cells. Facultative heterochromatin of the inactivated X (Xi), as well as constitutive heterochromatin, replicates late during the S-phase. It is generally accepted that Xi is always more compact in the interphase nucleus. The dense chromosomal folding has been proposed to define the late replication of Xi. In contrast to mouse pluripotent stem cells (PSCs), the status of X chromosome inactivation in human PSCs may vary significantly. Fluorescence in situ hybridization with a whole X-chromosome-specific DNA probe revealed that late-replicating Xi may occupy either compact or dispersed territory in human PSCs. Thus, the late replication of the Xi does not depend on the compactness of chromosome territory in human PSCs. However, the Xi reactivation and the synchronization in the replication timing of X chromosomes upon reprogramming are necessarily accompanied by the expansion of X chromosome territory.

scholarly journals Extreme selective sweeps independently targeted the X chromosomes of the great apes

2015 ◽  
Vol 112 (20) ◽  
pp. 6413-6418 ◽  
Author(s):  
Kiwoong Nam ◽  
Kasper Munch ◽  
Asger Hobolth ◽  
Julien Yann Dutheil ◽  
Krishna R. Veeramah ◽  
...  
Keyword(s):  
X Chromosome ◽  
Synonymous Substitution ◽  
Male Meiosis ◽  
Direct Selection ◽  
Chromosome Polymorphism ◽  
Genomic Feature ◽  
Selective Sweeps ◽  
X Chromosomes ◽  
Intragenomic Conflict ◽  
Accelerated Evolution

The unique inheritance pattern of the X chromosome exposes it to natural selection in a way that is different from that of the autosomes, potentially resulting in accelerated evolution. We perform a comparative analysis of X chromosome polymorphism in 10 great ape species, including humans. In most species, we identify striking megabase-wide regions, where nucleotide diversity is less than 20% of the chromosomal average. Such regions are found exclusively on the X chromosome. The regions overlap partially among species, suggesting that the underlying targets are partly shared among species. The regions have higher proportions of singleton SNPs, higher levels of population differentiation, and a higher nonsynonymous-to-synonymous substitution ratio than the rest of the X chromosome. We show that the extent to which diversity is reduced is incompatible with direct selection or the action of background selection and soft selective sweeps alone, and therefore, we suggest that very strong selective sweeps have independently targeted these specific regions in several species. The only genomic feature that we can identify as strongly associated with loss of diversity is the location of testis-expressed ampliconic genes, which also have reduced diversity around them. We hypothesize that these genes may be responsible for selective sweeps in the form of meiotic drive caused by an intragenomic conflict in male meiosis.

scholarly journals Bisection of the X chromosome disrupts the initiation of chromosome silencing during meiosis in Caenorhabditis elegans

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yisrael Rappaport ◽  
Hanna Achache ◽  
Roni Falk ◽  
Omer Murik ◽  
Oren Ram ◽  
...  
Keyword(s):  
Caenorhabditis Elegans ◽  
Rna Polymerase Ii ◽  
X Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Transcription Analysis ◽  
X Chromosomes ◽  
Unique Character ◽  
Active Transcription ◽  
Heterogametic Sex

AbstractDuring meiosis, gene expression is silenced in aberrantly unsynapsed chromatin and in heterogametic sex chromosomes. Initiation of sex chromosome silencing is disrupted in meiocytes with sex chromosome-autosome translocations. To determine whether this is due to aberrant synapsis or loss of continuity of sex chromosomes, we engineered Caenorhabditis elegans nematodes with non-translocated, bisected X chromosomes. In early meiocytes of mutant males and hermaphrodites, X segments are enriched with euchromatin assembly markers and active RNA polymerase II staining, indicating active transcription. Analysis of RNA-seq data showed that genes from the X chromosome are upregulated in gonads of mutant worms. Contrary to previous models, which predicted that any unsynapsed chromatin is silenced during meiosis, our data indicate that unsynapsed X segments are transcribed. Therefore, our results suggest that sex chromosome chromatin has a unique character that facilitates its meiotic expression when its continuity is lost, regardless of whether or not it is synapsed.

scholarly journals DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Richard S. Lee ◽  
Sophia Q. Song ◽  
Henri M. Garrison-Desany ◽  
Jenny L. Carey ◽  
Patricia Lasutschinkow ◽  
...  
Keyword(s):  
Pilot Study ◽  
X Chromosome ◽  
Child Behavior Checklist ◽  
Epigenetic Modification ◽  
Cpg Methylation ◽  
Monoamine Oxidase A ◽  
Low Fertility ◽  
X Chromosomes ◽  
Behavioral Dysfunction ◽  
Study Results

Abstract Background Equal dosage of X-linked genes between males and females is maintained by the X-inactivation of the second X chromosome in females through epigenetic mechanisms. Boys with aneuploidy of the X chromosome exhibit a host of symptoms such as low fertility, musculoskeletal anomalies, and cognitive and behavioral deficits that are presumed to be caused by the abnormal dosage of these genes. The objective of this pilot study is to assess the relationship between CpG methylation, an epigenetic modification, at several genes on the X chromosome and behavioral dysfunction in boys with supernumerary X chromosomes. Results Two parental questionnaires, the Behavior Rating Inventory of Executive Function (BRIEF) and Child Behavior Checklist (CBCL), were analyzed, and they showed expected differences in both internal and external behaviors between neurotypical (46,XY) boys and boys with 49,XXXXY. There were several CpGs in AR and MAOA of boys with 49,XXXXY whose methylation levels were skewed from levels predicted from having one active (Xa) and three inactive (Xi) X chromosomes. Further, methylation levels of multiple CpGs in MAOA showed nominally significant association with externalizing behavior on the CBCL, and the methylation level of one CpG in AR showed nominally significant association with the BRIEF Regulation Index. Conclusions Boys with 49,XXXXY displayed higher levels of CpG methylation at regulatory intronic regions in X-linked genes encoding the androgen receptor (AR) and monoamine oxidase A (MAOA), compared to that in boys with 47,XXY and neurotypical boys. Our pilot study results suggest a link between CpG methylation levels and behavior in boys with 49,XXXXY.

scholarly journals Absence of X-chromosome dosage compensation in the primordial germ cells of Drosophila embryos

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ryoma Ota ◽  
Makoto Hayashi ◽  
Shumpei Morita ◽  
Hiroki Miura ◽  
Satoru Kobayashi
Keyword(s):  
X Chromosome ◽  
Germ Cells ◽  
Dosage Compensation ◽  
Sex Chromosome ◽  
Primordial Germ Cells ◽  
Histone H4 ◽  
X Chromosomes ◽  
Essential Components ◽  
Msl Complex ◽  
Male Specific

AbstractDosage compensation is a mechanism that equalizes sex chromosome gene expression between the sexes. In Drosophila, individuals with two X chromosomes (XX) become female, whereas males have one X chromosome (XY). In males, dosage compensation of the X chromosome in the soma is achieved by five proteins and two non-coding RNAs, which assemble into the male-specific lethal (MSL) complex to upregulate X-linked genes twofold. By contrast, it remains unclear whether dosage compensation occurs in the germline. To address this issue, we performed transcriptome analysis of male and female primordial germ cells (PGCs). We found that the expression levels of X-linked genes were approximately twofold higher in female PGCs than in male PGCs. Acetylation of lysine residue 16 on histone H4 (H4K16ac), which is catalyzed by the MSL complex, was undetectable in these cells. In male PGCs, hyperactivation of X-linked genes and H4K16ac were induced by overexpression of the essential components of the MSL complex, which were expressed at very low levels in PGCs. Together, these findings indicate that failure of MSL complex formation results in the absence of X-chromosome dosage compensation in male PGCs.

scholarly journals Escape from X Chromosome Inactivation and the Female Predominance in Autoimmune Diseases

2021 ◽  
Vol 22 (3) ◽  
pp. 1114
Author(s):  
Ali Youness ◽  
Charles-Henry Miquel ◽  
Jean-Charles Guéry
Keyword(s):  
Autoimmune Diseases ◽  
X Chromosome ◽  
Gene Dosage ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
X Chromosomes ◽  
Female Sex Hormones ◽  
Inactive X Chromosome ◽  
Immune Related Genes ◽  
Female Specific

Women represent 80% of people affected by autoimmune diseases. Although, many studies have demonstrated a role for sex hormone receptor signaling, particularly estrogens, in the direct regulation of innate and adaptive components of the immune system, recent data suggest that female sex hormones are not the only cause of the female predisposition to autoimmunity. Besides sex steroid hormones, growing evidence points towards the role of X-linked genetic factors. In female mammals, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in a cellular mosaicism, where about one-half of the cells in a given tissue express either the maternal X chromosome or the paternal one. X chromosome inactivation (XCI) is however not complete and 15 to 23% of genes from the inactive X chromosome (Xi) escape XCI, thereby contributing to the emergence of a female-specific heterogeneous population of cells with bi-allelic expression of some X-linked genes. Although the direct contribution of this genetic mechanism in the female susceptibility to autoimmunity still remains to be established, the cellular mosaicism resulting from XCI escape is likely to create a unique functional plasticity within female immune cells. Here, we review recent findings identifying key immune related genes that escape XCI and the relationship between gene dosage imbalance and functional responsiveness in female cells.

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