Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The paper investigates Z chromosome evolution in the salmon louse, finding it evolves faster than autosomes due to genetic drift, not adaptive selection.

SLRfinder identifies candidate sex-linked regions using linkage disequilibrium clustering, outperforming SATC in labile sex chromosomes.

The paper identifies a candidate sex determination locus in the European green toad, involving structural variation in the bod1l gene and a Y-specific non-coding RNA.

The paper shows that X-chromosome loss in Sertoli cells enables maturation and focal spermatogenesis in Klinefelter syndrome.

The paper shows XIST reduces X chromosome activity through SPEN-dependent mechanisms before XCI in human embryos, while XACT does not significantly affect XIST function.

The paper examines the faster-Z effect in Leptidea sinapis, showing that neo-Z chromosomes evolve at different rates due to varying selective pressures and W gametolog presence.

The paper produces gapless assemblies of ape sex chromosomes for five great apes and a lesser ape, revealing divergence in Y chromosomes and evolutionary dynamics.

The paper examines sex-biased gene expression patterns in somatic tissues of mice and humans, finding rapid evolutionary turnover and overlapping variances that challenge a binary sex classification.

The paper investigates facultative parthenogenesis in whiptail lizards, showing that post-meiotic mechanisms, not polar body fusion, cause genome-wide homozygosity and explains associated genetic consequences.

The paper identifies YY1 binding as a gene-intrinsic barrier to Xist-mediated silencing, showing YY1 eviction is delayed during XCI.

The paper identifies an ongoing sex chromosome turnover in hybridizing stickleback lineages, where younger homomorphic sex chromosomes replace older heteromorphic ones in admixed populations.

This study investigates the genetic and molecular interactions between U and V sex chromosomes in the brown alga Ectocarpus across its life cycle, revealing developmental regulation and histone modifications in the diploid sporophyte stage.

The paper identifies a unique region on the zebrafish sex chromosome that contains genes expressed in testes and embryos but silenced in ovaries, suggesting a maternal-to-zygotic transition gene regulatory block.

The paper investigates sex determination in zebrafish by comparing chromosomal systems in different strains, showing that NA zebrafish develop testes directly without a juvenile ovary phase when lacking the W chromosome.

The paper identifies a dome-shaped microtubule structure in medaka germ cells and clarifies genetic pathways regulating its formation and destabilization during sex determination.

The paper investigates cis-regulatory evolution on the Y chromosome of threespine stickleback, finding positive selection in enhancer regions and correlation with X-biased gametolog expression.

This study identifies time- and sex-specific transposable element expression and epigenetic signatures in mouse fetal gonads, suggesting their role in regulating sex-specific gene expression.

This study shows that COUP-TFII is essential for maintaining the multipotent state of bipotential gonad cells and preventing their commitment to the testicular pathway.

The paper investigates the role of imprinted XCI in polar trophoblast cells and shows that the Rlim-Rex1 axis is essential for maintaining their fate and preventing early lethality in female mice.

The paper examines variation in sex-biased gene expression across 11 human populations and finds evidence of adaptive evolution in sex-specific regulatory regions.

The paper shows that the inactive X and Y chromosomes similarly affect autosomal gene expression in human cells through shared transcription factors.

This study compares gonadal transcriptomes of turtles and alligators during temperature-sensitive periods to identify conserved molecular cues for temperature-dependent sex determination.

The paper investigates recombination patterns in the guppy Y chromosome, finding two pseudo-autosomal regions and suggesting the male-determining factor is in a repetitive region near 21 Mb.

The paper identifies a recent transposon wave that remodelled the X chromosome epigenome, leading to a novel dosage compensation mechanism in Poecilia picta.

The paper analyzes transcript isoform diversity of Y-chromosomal ampliconic genes in six great ape species using long-read sequencing and identifies evolutionary patterns and pseudogenization trends.

This study shows that DMRT1 is essential for testis determination in rabbits and also critical for female fertility, revealing its conserved role across vertebrates.

This study shows Wnt4a is essential for genital duct elongation in medaka but not for gonadal sex differentiation, suggesting homology between mouse Mullerian ducts and teleost genital ducts.

The paper identifies Spenito's role in sex-specific metabolic differences in Drosophila fat storage cells, showing it regulates sex determination and metabolic gene expression.

The paper presents long-read assemblies of 43 diverse human Y chromosomes, revealing extensive structural complexity and variation across 180,000 years of evolution.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.