Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The paper develops a qPCR technique to identify avian sex using the W chromosome gene HINTW and validates it in chick, quail, and duck embryos.

This study examines chromosomal abnormalities and genetic variants in amenorrheic patients, finding common karyotypes and genotype frequencies associated with primary and secondary amenorrhea.

This study identifies the genetic mechanisms controlling sex-specific piRNA programs in Drosophila, showing that sex chromosome presence and sexual identity regulate piRNA biogenesis.

This paper reviews recent advances in squamate genomics, highlighting the exponential growth in high-quality genome assemblies and their utility for studying sex chromosome and microchromosome evolution.

The paper identifies X-linked genes that escape X-inactivation in twins across tissues, showing variability between individuals and suggesting genetic and environmental influences.

The paper identifies TOX3 as a transcription factor regulated by DMRT1 that modulates steroidogenic cell lineage expansion in chicken gonads.

This paper shows that Lhx2 in germ cells is important for testicular tubular organization in mice, affecting multiple cell types and vascular development.

This study identifies an XX/XY sex determination system in the cnidarian Hydractinia symbiolongicarpus, establishing it as a model for studying sex determination in non-bilaterian animals.

The paper shows that the inactive X chromosome modulates the expression of the active X chromosome in humans, affecting 38% of X-linked genes and contributing to sex differences in disease.

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.

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.

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

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.

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.

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.

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

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.

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

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

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.

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.

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.

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.

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.

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.

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.

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).

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

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

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