scholarly journals ARX/Arx is expressed in germ cells during spermatogenesis in both marsupial and mouse

Reproduction ◽  
2014 ◽  
Vol 147 (3) ◽  
pp. 279-289 ◽  
Author(s):  
Hongshi Yu ◽  
Andrew J Pask ◽  
Yanqiu Hu ◽  
Geoff Shaw ◽  
Marilyn B Renfree
Keyword(s):  
X Chromosome ◽  
Sex Chromosome ◽  
Neurological Diseases ◽  
Tammar Wallaby ◽  
Ambiguous Genitalia ◽  
Male Reproduction ◽  
Neural Cells ◽  
X Chromosomes ◽  
Adult Testis ◽  
Meiotic Sex Chromosome Inactivation

The X-linked aristaless gene,ARX, is essential for the development of the gonads, forebrain, olfactory bulb, pancreas, and skeletal muscle in mice and humans. Mutations cause neurological diseases, often accompanied by ambiguous genitalia. There are a disproportionately high number of testis and brain genes on the human and mouse X chromosomes. It is still unknown whether the X chromosome accrued these genes during its evolution or whether genes that find themselves on the X chromosome evolve such roles.ARXwas originally autosomal in mammals and remains so in marsupials, whereas in eutherian mammals it translocated to the X chromosome. In this study, we examined autosomalARXin tammars and compared it with the X-linkedArxin mice. We detectedARXmRNA in the neural cells of the forebrain, midbrain and hindbrain, and olfactory bulbs in developing tammars, consistent with the expression in mice.ARXwas detected by RT-PCR and mRNAin situhybridization in the developing tammar wallaby gonads of both sexes, suggestive of a role in sexual development as in mice. We also detectedARX/ArxmRNA in the adult testis in both tammars and mice, suggesting a potential novel role forARX/Arxin spermiogenesis.ARXtranscripts were predominantly observed in round spermatids.ArxmRNA localization distributions in the mouse adult testis suggest that it escaped meiotic sex chromosome inactivation during spermatogenesis. Our findings suggest thatARXin the therian mammal ancestor already played a role in male reproduction before it was recruited to the X chromosome in eutherians.

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 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 Parallel Universes for Models of X Chromosome Dosage Compensation in Drosophila: A Review

2016 ◽  
Vol 148 (1) ◽  
pp. 52-67 ◽  
Author(s):  
James A. Birchler
Keyword(s):  
X Chromosome ◽  
Dosage Compensation ◽  
Sex Chromosome ◽  
Fold Increase ◽  
Molecular Data ◽  
X Chromosomes ◽  
Histone Modifiers ◽  
Parallel Universes ◽  
Msl Complex ◽  
High Level

Dosage compensation in Drosophila involves an approximately 2-fold increase in expression of the single X chromosome in males compared to the per gene expression in females with 2 X chromosomes. Two models have been considered for an explanation. One proposes that the male-specific lethal (MSL) complex that is associated with the male X chromosome brings histone modifiers to the sex chromosome to increase its expression. The other proposes that the inverse effect which results from genomic imbalance would tend to upregulate the genome approximately 2-fold, but the MSL complex sequesters histone modifiers from the autosomes to the X to mute this autosomal male-biased expression. On the X, the MSL complex must override the high level of resulting histone modifications to prevent overcompensation of the X chromosome. Each model is evaluated in terms of fitting classical genetic and recent molecular data. Potential paths toward resolving the models are suggested.

scholarly journals A second X chromosome contributes to resilience in a mouse model of Alzheimer’s disease

2020 ◽  
Vol 12 (558) ◽  
pp. eaaz5677 ◽  
Author(s):  
Emily J. Davis ◽  
Lauren Broestl ◽  
Samira Abdulai-Saiku ◽  
Kurtresha Worden ◽  
Luke W. Bonham ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Y Chromosome ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Testicular Development ◽  
X Chromosomes ◽  
Model Of Alzheimer’S Disease ◽  
Preclinical Ad ◽  
Brain Expression

A major sex difference in Alzheimer’s disease (AD) is that men with the disease die earlier than do women. In aging and preclinical AD, men also show more cognitive deficits. Here, we show that the X chromosome affects AD-related vulnerability in mice expressing the human amyloid precursor protein (hAPP), a model of AD. XY-hAPP mice genetically modified to develop testicles or ovaries showed worse mortality and deficits than did XX-hAPP mice with either gonad, indicating a sex chromosome effect. To dissect whether the absence of a second X chromosome or the presence of a Y chromosome conferred a disadvantage on male mice, we varied sex chromosome dosage. With or without a Y chromosome, hAPP mice with one X chromosome showed worse mortality and deficits than did those with two X chromosomes. Thus, adding a second X chromosome conferred resilience to XY males and XO females. In addition, the Y chromosome, its sex-determining region Y gene (Sry), or testicular development modified mortality in hAPP mice with one X chromosome such that XY males with testicles survived longer than did XY or XO females with ovaries. Furthermore, a second X chromosome conferred resilience potentially through the candidate gene Kdm6a, which does not undergo X-linked inactivation. In humans, genetic variation in KDM6A was linked to higher brain expression and associated with less cognitive decline in aging and preclinical AD, suggesting its relevance to human brain health. Our study suggests a potential role for sex chromosomes in modulating disease vulnerability related to AD.

scholarly journals The mouse X chromosome is enriched for sex-biased genes not subject to selection by meiotic sex chromosome inactivation

2004 ◽  
Vol 36 (6) ◽  
pp. 642-646 ◽  
Author(s):  
Pavel P Khil ◽  
Natalya A Smirnova ◽  
Peter J Romanienko ◽  
R Daniel Camerini-Otero
Keyword(s):  
X Chromosome ◽  
Sex Chromosome ◽  
Chromosome Inactivation ◽  
Meiotic Sex Chromosome Inactivation ◽  
Sex Chromosome Inactivation

Marsupial Cytogenetics

1989 ◽  
Vol 37 (3) ◽  
pp. 331 ◽  
Author(s):  
DL Hayman
Keyword(s):  
X Chromosome ◽  
Dna Sequences ◽  
Chromosome Numbers ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Repeated Dna ◽  
Chromosome X ◽  
X Chromosomes ◽  
Repeated Dna Sequences ◽  
Chromosome Mosaicism

This review includes a list of the chromosome numbers of marsupials and a summary of the main features of chromosome evolution in this group of mammals. Special topics discussed include sex chromosome mosaicism, the size of the marsupial X chromosome, X chromosomes and nucleolar organisers, complex sex chromosome systems, repeated DNA sequences and aspects of meiosis.

scholarly journals Dosage compensation in sciarids is achieved by hypertranscription of the single X chromosome in males.

Genetics ◽  
1994 ◽  
Vol 138 (3) ◽  
pp. 787-790
Author(s):  
P R da Cunha ◽  
B Granadino ◽  
A L Perondini ◽  
L Sánchez
Keyword(s):  
X Chromosome ◽  
Dosage Compensation ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
X Chromosomes ◽  
Different Doses

Abstract Dosage compensation refers to the process whereby females and males with different doses of sex chromosomes have similar amounts of products from sex chromosome-linked genes. We analyzed the process of dosage compensation in Sciara ocellaris, Diptera of the suborder Nematocera. By autoradiography and measurements of X-linked rRNA in females (XX) and males (XO), we found that the rate of transcription of the single X chromosome in males is similar to that of the two X chromosomes in females. This, together with the bloated appearance of the X chromosome in males, support the idea that in sciarids dosage compensation is accomplished by hypertranscription of the X chromosome in males.

scholarly journals The potential for a released autosomal X-shredder becoming a driving-Y chromosome and invasively suppressing wild populations of malaria mosquitoes

2019 ◽  
Author(s):  
Yehonatan Alcalay ◽  
Silke Fuchs ◽  
Roberto Galizi ◽  
Federica Bernardini ◽  
Roya Elaine Haghighat-Khah ◽  
...  
Keyword(s):  
Sex Ratio ◽  
Y Chromosome ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Unexpected Event ◽  
Meiotic Sex Chromosome Inactivation ◽  
Ratio Distortion ◽  
High Fraction ◽  
Malaria Mosquitoes ◽  
Population Suppression

AbstractSynthetic sex-ratio distorters based on X-chromosome shredding are predicted to be more efficient than sterile males for population suppression of malaria mosquitoes using genetic control. X-chromosome shredding operates through the targeted elimination of X-chromosome-bearing gametes during male spermatogenesis, resulting in males that have a high fraction of male offspring. Strains harboring autosomal constructs containing a modified endonuclease I-PpoI have now been developed in the malaria mosquito Anopheles gambiae, resulting in strong sex-ratio distortion towards males. Data are being gathered for these strains for submission of regulatory dossiers for contained use and subsequent field release in West Africa. Since autosomal X-shredders are transmitted in a Mendelian fashion and can be selected against their frequency in the population is expected to decline once releases are halted. However, any unintended transfer of the X-shredder to the Y-chromosome could theoretically change these dynamics: This could lead to 100% transmission of the newly Y-linked X-shredder to the predominant male-biased offspring and its insulation from negative selection in females, resulting in its potential spread in the population and ultimately to suppression. Here, we analyze plausible mechanisms whereby an autosomal X-shredder could become linked to the Y-chromosome after release and provide data regarding its potential for activity should it become linked to the Y-chromosome. Our results strongly suggest that Y-chromosome linkage through remobilization of the transposon used for the initial genetic transformation is unlikely, and that, in the unexpected event that the X-shredder becomes linked to the Y-chromosome, expression and activity of the X-shredder would likely be inhibited by meiotic sex chromosome inactivation. We conclude that a functioning X-shredding-based Y-drive resulting from a naturally induced transposition or translocation of the transgene onto the Y-chromosome is unlikely.

scholarly journals On the Origin and Evolution of Drosophila New Genes during Spermatogenesis

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1796
Author(s):  
Qianwei Su ◽  
Huangyi He ◽  
Qi Zhou
Keyword(s):  
X Chromosome ◽  
Sex Chromosome ◽  
Expression Patterns ◽  
Cell Level ◽  
Origin And Evolution ◽  
Functional Studies ◽  
New Genes ◽  
Meiotic Sex Chromosome Inactivation ◽  
New Gene ◽  
Cell Transcriptome

The origin of functional new genes is a basic biological process that has significant contribution to organismal diversity. Previous studies in both Drosophila and mammals showed that new genes tend to be expressed in testes and avoid the X chromosome, presumably because of meiotic sex chromosome inactivation (MSCI). Here, we analyze the published single-cell transcriptome data of Drosophila adult testis and find an enrichment of male germline mitotic genes, but an underrepresentation of meiotic genes on the X chromosome. This can be attributed to an excess of autosomal meiotic genes that were derived from their X-linked mitotic progenitors, which provides direct cell-level evidence for MSCI in Drosophila. We reveal that new genes, particularly those produced by retrotransposition, tend to exhibit an expression shift toward late spermatogenesis compared with their parental copies, probably due to the more intensive sperm competition or sexual conflict. Our results dissect the complex factors including age, the origination mechanisms and the chromosomal locations that influence the new gene origination and evolution in testes, and identify new gene cases that show divergent cell-level expression patterns from their progenitors for future functional studies.

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