scholarly journals Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height

2021 ◽  
Author(s):  
Atsushi Hattori ◽  
Atsuhito Seki ◽  
Naoto Inaba ◽  
Kazuhiko Nakabayashi ◽  
Kazue Takeda ◽  
...  
Keyword(s):  
Sex Difference ◽  
Sex Chromosome ◽  
Phenotypic Diversity ◽  
Pseudoautosomal Region ◽  
Monoallelic Expression ◽  
Adult Women ◽  
Adult Men ◽  
Y Chromosomes ◽  
Male Specific ◽  
Novel Model

AbstractAdult men are, on average, ∼13 cm taller than adult women. Although previous studies have suggested a significant contribution of sex chromosomal genes to sexual dimorphism in height, all attempts to identify a male-specific growth gene have failed. In the present study, we analyzed transcripts from cartilage tissues, and found that the expression of SHOX, a growth-promoting gene in the pseudoautosomal region on the X and Y chromosomes, was lower in females than in males. DNA methylation analyses showed that SHOX has some characteristics of genes subjected to X chromosome inactivation (XCI). These findings indicate that sex difference in human height is mainly ascribed to incomplete spreading of XCI on a pseudoautosomal gene. More importantly, RT-PCR of fibroblast clones revealed XCI-independent random clonal monoallelic expression of SHOX. We presume that during eutherian evolution, SHOX translocated from an autosome to the proto-sex chromosome without losing the epigenetic memory of random clonal monoallelic expression and subsequently underwent partial XCI. This study provides a novel model of epigenetic gene regulation leading to phenotypic diversity in humans.

Male Sterility and Meiotic Drive Associated With Sex Chromosome Rearrangements in Drosophila: Role of X-Y Pairing

Genetics ◽  
1998 ◽  
Vol 149 (1) ◽  
pp. 143-155 ◽  
Author(s):  
Bruce D McKee ◽  
Kathy Wilhelm ◽  
Cynthia Merrill ◽  
Xiao-jia Ren
Keyword(s):  
Male Sterility ◽  
Sex Chromosome ◽  
Meiotic Drive ◽  
Repeated Sequence ◽  
Meiotic Pairing ◽  
Intergenic Spacers ◽  
Male Specific ◽  
The Relationship ◽  
Novel Model

Abstract In Drosophila melanogaster, deletions of the pericentromeric X heterochromatin cause X-Y nondisjunction, reduced male fertility and distorted sperm recovery ratios (meiotic drive) in combination with a normal Y chromosome and interact with Y-autosome translocations (T(Y;A)) to cause complete male sterility. The pericentromeric heterochromatin has been shown to contain the male-specific X-Y meiotic pairing sites, which consist mostly of a 240-bp repeated sequence in the intergenic spacers (IGS) of the rDNA repeats. The experiments in this paper address the relationship between X-Y pairing failure and the meiotic drive and sterility effects of Xh deletions. X-linked insertions either of complete rDNA repeats or of rDNA fragments that contain the IGS were found to suppress X-Y nondisjunction and meiotic drive in Xh−/Y males, and to restore fertility to Xh−/T(Y;A) males for eight of nine tested Y-autosome translocations. rDNA fragments devoid of IGS repeats proved incapable of suppressing either meiotic drive or chromosomal sterility. These results indicate that the various spermatogenic disruptions associated with X heterochromatic deletions are all consequences of X-Y pairing failure. We interpret these findings in terms of a novel model in which misalignment of chromosomes triggers a checkpoint that acts by disabling the spermatids that derive from affected spermatocytes.

The Continuum of Psychosis and Its Genetic Origins

1990 ◽  
Vol 156 (6) ◽  
pp. 788-797 ◽  
Author(s):  
T. J. Crow
Keyword(s):  
Sex Chromosome ◽  
Homo Sapiens ◽  
Polymorphic Marker ◽  
Cerebral Dominance ◽  
Homo Erectus ◽  
Evolutionary Development ◽  
Pseudoautosomal Region ◽  
Sibling Pairs ◽  
Homo Habilis ◽  
Y Chromosomes

Attempts to draw a line of genetic demarcation between schizophrenic and affective illnesses have failed. It must be assumed that these diseases are genetically related. A post-mortem study has demonstrated that enlargement of the temporal horn of the lateral ventricle in schizophrenia but not in Alzheimer-type dementia is selective to the left side of the brain. This suggests that the gene for psychosis is the ‘cerebral dominance gene‘, the factor that determines the asymmetrical development of the human brain. That the psychosis gene is located in the pseudoautosomal region of the sex chromosomes is consistent with observations that sibling pairs with schizophrenia are more often than would be expected of the same sex and share alleles of a polymorphic marker at the short-arm telomeres of the X and Y chromosomes above chance expectation. That the cerebral dominance gene also is pseudoautosomal is suggested by the pattern of verbal and performance deficits associated with sex-chromosome aneuploidies. The psychoses may thus represent aberrations of a late evolutionary development underlying the recent and rapid increase in brain weight in the transition fromAustralopithecusthroughHomo habilisandHomo erectustoHomo sapiens.

scholarly journals New Insights into Mammalian Sex Chromosome Structure and Evolution from High-quality Bovine X and Y Chromosome Sequences

2019 ◽  
Author(s):  
Ruijie Liu ◽  
Wai Yee Low ◽  
Rick Tearle ◽  
Sergey Koren ◽  
Jay Ghurye ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Immune Modulation ◽  
Sex Chromosome ◽  
Inflammatory Responses ◽  
Structure Evolution ◽  
Pseudoautosomal Region ◽  
Evolutionary Divergence ◽  
High Quality ◽  
Global Regulators ◽  
Y Chromosomes

Abstract Background Mammalian X chromosomes are mainly euchromatic with a similar size and structure among species whereas Y chromosomes are smaller, have undergone substantial evolutionary changes and accumulated male specific genes and genes involved in sex determination. The PAR is conserved on the X and Y and pair during meiosis. The structure, evolution and function of mammalian sex chromosomes is still poorly understood because few species have high quality sex chromosome assemblies. Results Here we report the first bovine sex chromosome assemblies that include the complete pseudoautosomal region (PAR) spanning 6.84 Mb and three Y chromosome X-degenerate (X-d) regions. We show that the ruminant PAR comprises 31 genes and is similar to the PAR of pig and dog but extends further than those of human and horse. Differences in the pseudoautosomal boundaries are consistent with evolutionary divergence times. Conclusions A bovidae-specific expansion of members of the lipocalin gene family in the PAR may reflect immune-modulation and anti-inflammatory responses that contribute to parasite resistance in ruminants. Comparison of the X-d regions of Y chromosomes across species reveal five conserved X-Y gametologs, which are global regulators of gene activity, and may have a fundamental role in mammalian sexual dimorphism.

scholarly journals New Insights into Mammalian Sex Chromosome Structure and Evolution from High-quality Bovine X and Y Chromosome Sequences

2019 ◽  
Author(s):  
Ruijie Liu ◽  
Wai Yee Low ◽  
Rick Tearle ◽  
Sergey Koren ◽  
Jay Ghurye ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Immune Modulation ◽  
Sex Chromosome ◽  
Inflammatory Responses ◽  
Structure Evolution ◽  
Pseudoautosomal Region ◽  
Evolutionary Divergence ◽  
High Quality ◽  
Global Regulators ◽  
Y Chromosomes

Abstract Background Mammalian X chromosomes are mainly euchromatic with a similar size and structure among species whereas Y chromosomes are smaller, have undergone substantial evolutionary changes and accumulated male specific genes and genes involved in sex determination. The PAR is conserved on the X and Y and pair during meiosis. The structure, evolution and function of mammalian sex chromosomes is still poorly understood because few species have high quality sex chromosome assemblies. Results Here we report the first bovine sex chromosome assemblies that include the complete pseudoautosomal region (PAR) spanning 6.84 Mb and three Y chromosome X-degenerate (X-d) regions. We show that the ruminant PAR comprises 31 genes and is similar to the PAR of pig and dog but extends further than those of human and horse. Differences in the pseudoautosomal boundaries are consistent with evolutionary divergence times. Conclusions A bovidae-specific expansion of members of the lipocalin gene family in the PAR may reflect immune-modulation and anti-inflammatory responses that contribute to parasite resistance in ruminants. Comparison of the X-d regions of Y chromosomes across species reveal five conserved X-Y gametologs, which are global regulators of gene activity, and may have a fundamental role in mammalian sexual dimorphism.

scholarly journals The sequence of a male-specific genome region containing the sex determination switch in Aedes aegypti

2017 ◽  
Author(s):  
Joe Turner ◽  
Ritesh Krishna ◽  
Arjen E. Van’t Hof ◽  
Elizabeth R. Sutton ◽  
Kelly Matzen ◽  
...  
Keyword(s):  
Aedes Aegypti ◽  
Sex Determination ◽  
Sex Chromosome ◽  
Bac Library ◽  
Principal Vector ◽  
Genome Region ◽  
Large Gene ◽  
Y Chromosomes ◽  
Repetitive Nature ◽  
Male Specific

Aedes aegypti is the principal vector of several important arboviruses. Among the methods of vector control to limit transmission of disease are genetic strategies that involve the release of sterile or genetically modified non-biting males (Alphey 2014), which has generated interest in manipulating mosquito sex ratios (Gilles et al. 2014; Adelman and Tu 2016). Sex determination in Ae. aegypti is controlled by a non-recombining Y chromosome-like region called the M locus (Craig et al. 1960), yet characterisation of this locus has been thwarted by the repetitive nature of the genome (Hall et al. 2015). In 2015, an M locus gene named Nix was identified that displays the qualities of a sex determination switch (Hall et al. 2015). With the use of a whole-genome BAC library, we amplified and sequenced a ~200kb region containing this male-determining gene. In this study, we show that Nix is comprised of two exons separated by a 99kb intron, making it an unusually large gene. The intron sequence is highly repetitive and exhibits features in common with old Y chromosomes, and we speculate that the lack of recombination at the M locus has allowed the expansion of repeats in a manner characteristic of a sex-limited chromosome, in accordance with proposed models of sex chromosome evolution in insects.

scholarly journals New Insights into Mammalian Sex Chromosome Structure and Evolution from High-quality Bovine X and Y Chromosome Sequences

2019 ◽  
Author(s):  
Ruijie Liu ◽  
Wai Yee Low ◽  
Rick Tearle ◽  
Sergey Koren ◽  
Jay Ghurye ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Immune Modulation ◽  
Sex Chromosome ◽  
Inflammatory Responses ◽  
Structure Evolution ◽  
Pseudoautosomal Region ◽  
Evolutionary Divergence ◽  
High Quality ◽  
Global Regulators ◽  
Y Chromosomes

Abstract Background Mammalian X chromosomes are mainly euchromatic with a similar size and structure among species whereas Y chromosomes are smaller, have undergone substantial evolutionary changes and accumulated male specific genes and genes involved in sex determination. The PAR is conserved on the X and Y and pair during meiosis. The structure, evolution and function of mammalian sex chromosomes is still poorly understood because few species have high quality sex chromosome assemblies. Results Here we report the first bovine sex chromosome assemblies that include the complete pseudoautosomal region (PAR) spanning 6.84 Mb and three Y chromosome X-degenerate (X-d) regions. We show that the ruminant PAR comprises 31 genes and is similar to the PAR of pig and dog but extends further than those of human and horse. Differences in the pseudoautosomal boundaries are consistent with evolutionary divergence times. Conclusions A bovidae-specific expansion of members of the lipocalin gene family in the PAR may reflect immune-modulation and anti-inflammatory responses that contribute to parasite resistance in ruminants. Comparison of the X-d regions of Y chromosomes across species reveal five conserved X-Y gametologs, which are global regulators of gene activity, and may have a fundamental role in mammalian sexual dimorphism.

scholarly journals New insights into mammalian sex chromosome structure and evolution using high-quality sequences from bovine X and Y chromosomes

BMC Genomics ◽  
2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Ruijie Liu ◽  
Wai Yee Low ◽  
Rick Tearle ◽  
Sergey Koren ◽  
Jay Ghurye ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Immune Modulation ◽  
Sex Chromosome ◽  
Inflammatory Responses ◽  
Structure Evolution ◽  
Pseudoautosomal Region ◽  
Evolutionary Divergence ◽  
Chromosome X ◽  
High Quality ◽  
Y Chromosomes

Abstract Background Mammalian X chromosomes are mainly euchromatic with a similar size and structure among species whereas Y chromosomes are smaller, have undergone substantial evolutionary changes and accumulated male specific genes and genes involved in sex determination. The pseudoautosomal region (PAR) is conserved on the X and Y and pair during meiosis. The structure, evolution and function of mammalian sex chromosomes, particularly the Y chromsome, is still poorly understood because few species have high quality sex chromosome assemblies. Results Here we report the first bovine sex chromosome assemblies that include the complete PAR spanning 6.84 Mb and three Y chromosome X-degenerate (X-d) regions. The PAR comprises 31 genes, including genes that are missing from the X chromosome in current cattle, sheep and goat reference genomes. Twenty-nine PAR genes are single-copy genes and two are multi-copy gene families, OBP, which has 3 copies and BDA20, which has 4 copies. The Y chromosome X-d1, 2a and 2b regions contain 11, 2 and 2 gametologs, respectively. Conclusions The ruminant PAR comprises 31 genes and is similar to the PAR of pig and dog but extends further than those of human and horse. Differences in the pseudoautosomal boundaries are consistent with evolutionary divergence times. A bovidae-specific expansion of members of the lipocalin gene family in the PAR reported here, may affect immune-modulation and anti-inflammatory responses in ruminants. Comparison of the X-d regions of Y chromosomes across species revealed that five of the X-Y gametologs, which are known to be global regulators of gene activity and candidate sexual dimorphism genes, are conserved.

M31 and macroH2A1.2 colocalise at the pseudoautosomal region during mouse meiosis

2001 ◽  
Vol 114 (18) ◽  
pp. 3367-3375 ◽  
Author(s):  
James M. A. Turner ◽  
Paul S. Burgoyne ◽  
Prim B. Singh
Keyword(s):  
Meiotic Prophase ◽  
Sex Chromosome ◽  
Centromeric Heterochromatin ◽  
Pseudoautosomal Region ◽  
Male And Female ◽  
Female Mice ◽  
Steroid Sulphatase ◽  
Meiotic Sex Chromosome Inactivation ◽  
Y Chromosomes ◽  
Surface Spread

Progression through meiotic prophase is associated with dramatic changes in chromosome condensation. Two proteins that have been implicated in effecting these changes are the mammalian HP1-like protein M31 (HP1β or MOD1) and the unusual core histone macroH2A1.2. Previous analyses of M31 and macroH2A1.2 localisation in mouse testis sections have indicated that both proteins are components of meiotic centromeric heterochromatin and of the sex body, the transcriptionally inactive domain of the X and Y chromosomes. This second observation has raised the possibility that these proteins co-operate in meiotic sex chromosome inactivation. In order to investigate the roles of M31 and macroH2A1.2 in meiosis in greater detail, we have examined their localisation patterns in surface-spread meiocytes from male and female mice. Using this approach, we report that, in addition to their previous described staining patterns, both proteins localise to a focus within the portion of the pseudoautosomal region (PAR) that contains the steroid sulphatase (Sts) gene. In light of the timing of its appearance and of its behaviour in sex-chromosomally variant mice, we suggest a role for this heterochromatin focus in preventing complete desynapsis of the terminally associated X and Y chromosomes prior to anaphase I.

scholarly journals Evolution of a Multiple Sex-Chromosome System by Three-Sequential Translocations among Potential Sex-Chromosomes in the Taiwanese Frog Odorrana swinhoana

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 661
Author(s):  
Ikuo Miura ◽  
Foyez Shams ◽  
Si-Min Lin ◽  
Marcelo de Bello Cioffi ◽  
Thomas Liehr ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Rare Case ◽  
Sex Chromosome ◽  
Sex Chromosome System ◽  
Brown Frog ◽  
Male Specific

Translocation between sex-chromosomes and autosomes generates multiple sex-chromosome systems. It happens unexpectedly, and therefore, the evolutionary meaning is not clear. The current study shows a multiple sex chromosome system comprising three different chromosome pairs in a Taiwanese brown frog (Odorrana swinhoana). The male-specific three translocations created a system of six sex-chromosomes, ♂X1Y1X2Y2X3Y3 -♀X1X1X2X2X3X3. It is unique in that the translocations occurred among three out of the six members of potential sex-determining chromosomes, which are known to be involved in sex-chromosome turnover in frogs, and the two out of three include orthologs of the sex-determining genes in mammals, birds and fishes. This rare case suggests sex-specific, nonrandom translocations and thus provides a new viewpoint for the evolutionary meaning of the multiple sex chromosome system.

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.

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