Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

This study shows that the mir-35 family of microRNAs in C. elegans is essential for embryonic viability and links maternal germline sex determination to embryonic lethality.

The paper reanalyzes single-cell RNA-seq data to show X-linked genes are not upregulated in male human embryos and their expression ratio decreases, contradicting Ohno's hypothesis.

The paper identifies a regulatory pathway controlling the timing of sexual differentiation in C. elegans and shows its conservation in mice and humans.

This study investigates the role of the GLD-1-FOG-2 complex in regulating C. elegans hermaphrodite spermatogenesis through multiple RNA-binding interactions and quantitative modeling.

The paper uses single-cell allele-specific expression to identify novel XCI escapees and reveals cellular heterogeneity in XCI driven by XIST.

This paper shows that wnt4a promotes female sex determination and reproductive duct development in zebrafish, similar to its role in mammals.

The paper investigates non-canonical dosage compensation on the Drosophila X chromosome, showing that repressive chromatin domains contribute to gene expression balance in males.

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

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 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 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.

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.

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.