Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The paper sequences a male-specific genome region containing the sex determination switch gene Nix in Aedes aegypti.

This study shows that CLAMP directly interacts with MSL2 to aid in the recruitment of the MSL complex to the X chromosome in Drosophila.

The paper uses single-cell RNA sequencing to study sex determination in mouse gonadal somatic cells, identifying early progenitors and sex-specific fate acquisition in different cell lineages.

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

This study examines how supernumerary sex chromosomes affect limbic structure volume and shape in patients compared to controls, finding reduced amygdala volume but no hippocampal volume changes after brain size correction.

The paper assembles the Drosophila miranda Y chromosome using long reads and chromatin conformation capture, revealing its expansion through repetitive sequences.

The paper shows that in Drosophila, gonad stem cell niches can switch between male and female programs in dsx mutants, indicating dsx tips the balance rather than instructs the fate.

The paper identifies a Y-linked gene zkY in Atlantic cod that functions as a master sex-determining gene by suppressing germ cell division in males.

The paper investigates how sex chromosome dosage affects gene expression in humans by analyzing diverse aneuploidies and identifies SCD-sensitive genes and their regulatory networks.

The paper investigates how the siRNA pathway modulates chromatin at X-linked repeats in Drosophila to guide dosage compensation by influencing X chromosome recognition.

The paper investigates whether palindromic structures on the X chromosome are necessary for post-meiotic gene expression and fertility in male mice, finding that gene expression and fertility are unaffected by deletions of these regions.

The study investigates sex determination in C. versicolor, finding temperature does not regulate gonadal differentiation, AI induces male sex reversal, and a consistent sex bias occurs regardless of incubation conditions.

The paper uses miRNA target site analysis to show preexisting gene dosage sensitivities influenced the evolution of mammalian and avian sex chromosomes.

The paper identifies a core set of 675 genes with consistent sex-biased expression in three Daphnia species, showing a female overexpression bias and similar proportions to species with genetic sex determination.

Time-course single-cell RNA-seq of NR5A1-GFP+ mouse XY gonad cells points to one multipotent somatic progenitor pool that yields Sertoli cells and, progressively, steroidogenic Leydig precursors.

The paper studies chromosomal evolution in cancer cell lines, finding that cells lose sex chromosomes and gain autosomes, leading to a 2:3 X:A ratio that may enhance fitness.

The paper examines sequence and copy number diversity of sex-linked genes in three mouse subspecies, finding reduced sequence diversity in non-repetitive regions consistent with positive selection during spermatogenesis.

The paper investigates the evolutionary dynamics of sex-biased genes in four Anopheles mosquito species, finding female-biased genes evolve faster than male-biased ones due to sex-specific challenges.

The paper demonstrates that Y chromosomes from two malaria vector species in the Anopheles gambiae complex function interchangeably, suggesting no hybrid incompatibility loci on the Y and enabling potential cross-species sex-distorting Y drive interventions.

The paper identifies a neo-sex chromosome in the Monarch butterfly and its relatives, using sequencing coverage and ortholog counts to assign chromosomes and detect assembly errors.

This study shows that SMCX/KDM5C, a histone demethylase, is required for X-inactivation in female mammals by inducing Xist RNA and silencing X-linked genes.

The paper investigates the House fly's sex chromosomes and finds minimal differentiation between X and Y, suggesting the Y was replaced by an X carrying a male-determining gene.

This study identifies the sex chromosome in Brook Charr, characterizes heterochiasmy, and identifies QTL for growth, reproductive, and stress-related traits in salmonids.

This study investigates germ cell depletion in XY sex-reversed females by analyzing transcriptomes of primordial germ cells and oocytes, revealing developmental disruptions and gene expression changes.

The paper identifies a critical genomic region on chromosome 19 that protects the active X chromosome from XIST-mediated silencing, linking its disruption to embryonic female loss.

This paper reviews the regulation of X-chromosome inactivation and its clinical implications for X-linked diseases in females.

The paper identifies human genes that escape X-chromosome inactivation using single-cell RNA-Seq and allelic expression analysis, finding 25-31 escapee genes with high confidence.