Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Distinct developmental mechanisms influence sexual dimorphisms in the milkweed bug Oncopeltus fasciatus

The paper investigates the genetic mechanisms of sexual dimorphism in the milkweed bug, showing distinct roles of doublesex, intersex, and fruitless in different dimorphic structures.

Loss of NR5A1 in Sertoli cells after sex determination changes their cellular identity and induces their death by anoikis

This study shows that loss of NR5A1 in Sertoli cells after sex determination leads to their transdifferentiation, anoikis, and testis abnormalities.

In-vitro cellular reprogramming to model gonad development and its disorders

This paper describes in-vitro protocols to differentiate mouse and human pluripotent cells into gonadal progenitors, revealing their functional equivalence to in-vivo cells and modeling DSDs.

Sex differences in early and term placenta are conserved in adult tissues

The paper identifies sex differences in gene expression in placenta at different pregnancy stages and shows these differences are conserved in adult tissues.

Deregulation of Y-linked protamine-like genes in sex chromosome-biased spermatid demise

The paper identifies Y-linked protamine-like genes as meiotic drivers in Drosophila by showing they cause nuclear decompaction and biased demise of X-bearing sperm through dominant-negative effects.

Fadrozole-mediated sex reversal in the embryonic chicken gonad involves a PAX2 positive undifferentiated supporting cell state

The paper shows that fadrozole induces ovotestis in female chicken embryos by creating PAX2-positive undifferentiated supporting cells, while male embryos treated with estrogen lack these cells.

DLC3/Cv-c function in testis development in humans and Drosophila: implication for variants of sex development

The paper shows DLC3/Cv-c is essential for testis development in humans and Drosophila, with the StART domain mediating function independent of the GAP domain.

Gene essentiality in cancer cell lines is modified by the sex chromosomes

The paper identifies 178 genes with sex-dependent essentiality in cancer cell lines by analyzing CRISPR screens and integrating with gene expression and mutation data.

Age acquired skewed X Chromosome Inactivation is associated with adverse health outcomes in humans

This study shows that age-related skewed X chromosome inactivation in females is linked to increased cardiovascular disease risk and cancer incidence.

Remodeling and compaction of the inactive X is regulated by Xist during female B cell activation

This study shows that Xist regulates Xi compaction and TAD boundaries in B cells, impacting XCI maintenance and X-linked gene expression.

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta

The paper uses isogenic hiPSCs to study monosomy X effects on trophoblast gene expression and finds altered placental gene levels and preserved co-expression modules in placental tissues.

Age-related loss of the Y chromosome is associated with sex hormone binding globulin and selected drivers of clonal hematopoiesis

This study identifies associations between Y-chromosome loss, sex hormone levels, and clonal hematopoiesis in men using UK Biobank data.

Masculinizer-induced dosage compensation is achieved by transcriptional downregulation of both copies of Z-linked genes in the silkworm, Bombyx mori

The paper investigates dosage compensation in silkworm males by analyzing allele-specific expression and finds both Z chromosomes are transcriptionally downregulated.

Contribution of the Wolffian duct mesenchyme to the formation of the female reproductive tract

The paper shows that Wolffian duct mesenchyme persists in female embryos and contributes to female reproductive tract formation through unique transcriptomic and anatomical changes.

A cross-species study of sex chromosome dosage effects on mammalian brain anatomy

This study compares the effects of sex chromosome trisomies on brain anatomy in humans and mice, finding species-specific patterns and some conserved regional impacts.

The zebrafish dmrt family genes have cooperative and antagonistic roles in sex determination and oogenesis

This study investigates the roles of zebrafish dmrt family genes in sex determination and oogenesis, revealing cooperative and antagonistic interactions among dmrt1, dmrt2a, and dmrt3.

Prediction of sex-determination mechanisms in avian primordial germ cells using RNA-seq analysis

This study uses RNA-seq to analyze gene expression in male and female avian primordial germ cells, revealing sex-biased gene expression and suggesting a combination of cell-autonomous and somatic regulation in sex determination.

Sex-linked markers in an Australian frog Platyplectrum ornatum with a small genome and homomorphic sex chromosomes

The paper identifies sex-linked markers in the Australian frog Platyplectrum ornatum, revealing two distinct population clusters with different sex-determining systems.

GATA transcription factors drive initial Xist upregulation after fertilization through direct activation of a distal enhancer element

This study identifies GATA transcription factors as essential for initiating Xist upregulation and X-chromosome inactivation in mouse embryos through direct activation of a distal enhancer.

Transcriptome analysis in the silkworm Bombyx mori overexpressing piRNA-resistant Masculinizer gene

The paper analyzes transcriptome changes in silkworm larvae overexpressing a piRNA-resistant Masculinizer gene, finding global repression of Z-linked genes in females but minimal effect on males.

TRIM28-dependent SUMOylation protects the adult ovary from the testicular pathway

This study identifies TRIM28's role in preventing female-to-male sex reversal in the adult mouse ovary by maintaining the ovarian pathway through SUMOylation.

Induction and inhibition of Drosophila X chromosome gene expression are both impeded by the dosage compensation complex

The paper examines how DCC binding affects gene expression changes on the X chromosome in Drosophila under various treatments, finding that DCC-bound genes are less likely to be up- or down-regulated.

Structural basis for interaction between CLAMP and MSL2 proteins involved in the specific recruitment of the dosage compensation complex in Drosophila

The paper determines the structural basis of the interaction between CLAMP and MSL2 proteins, showing how this interaction enables specific recruitment of the dosage compensation complex to the male X chromosome in Drosophila.

The evolution of widespread recombination suppression on the Dwarf Hamster (Phodopus) X chromosome

This study identifies widespread recombination suppression on the X chromosome of the dwarf hamster, showing it is independent of structural changes and associated with heterochromatin formation.

Meiotic pairing and double strand break formation along the heteromorphic threespine stickleback sex chromosomes

This study examines meiotic pairing and double strand break formation in threespine stickleback sex chromosomes, finding that they pair non-homologously and repair breaks similarly to autosomes.

X upregulation is not global and extent of upregulation differs between ancestral and acquired X-linked genes

The paper investigates X-chromosome upregulation (XCU) in mouse embryos and finds it is not global, differs between ancestral and acquired X-linked genes, and may not drive the evolution of X-chromosome inactivation (XCI).

Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonad

The paper identifies and characterizes a previously uncharacterized supporting-like cell lineage in developing mouse gonads, showing its origin, specification, and sex-specific differentiation.

A temporally controlled sequence of X-chromosomeinactivation and reactivation defines female mouse in vitro germ cells with meiotic potential

This study investigates X-chromosome inactivation and reactivation dynamics in female mouse PGCLCs, showing that a precise temporal sequence is critical for meiotic potential.

X chromosome inactivation in the human placenta is patchy and distinct from adult tissues

The paper examines X chromosome inactivation in the human placenta and finds it is patchy, differing from the mosaic pattern observed in adult tissues.

X-linked palindromic gene families 4930567H17Rik and Mageb5 are dispensable for male mouse fertility

The paper shows that deletion of X-linked palindromic gene families 4930567H17Rik and Mageb5 does not affect male fertility, spermatogenesis, or gene regulation, but may influence sperm head morphology.