Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Reenacting a mouse genetic evolutionary arms race in yeast reveals SLXL1/SLX compete with SLY1/2 for binding to Spindlins.

The paper demonstrates dose-dependent competition between X- and Y-linked proteins for binding to Spindlins in yeast, revealing mechanisms of evolutionary arms race in mice.

Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network

The paper uses isogenic hiPSC-derived neural crest cells to identify gene expression changes in Turner syndrome, revealing haploinsufficient drivers in cranial neural crest development.

Rapid and dynamic evolution of a giant Y chromosome in Silene latifolia

The paper describes the discovery of genes underlying male-female flower differences in Silene latifolia and relates findings to the evolution of the Y chromosome's non-recombining regions.

The Silene latifolia genome and its giant Y chromosome

This study sequences the giant Y chromosome of Silene latifolia and reveals its structure, function, and evolutionary history.

A transcriptional control model for doublesex-dependent sex differentiation in Nasonia wasps

The paper investigates DSX's role in sex differentiation in Nasonia wasps, finding it acts as both activator and repressor in males, with a subtler effect in females.

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

Evolutionary divergence between homologous X-Y chromosome genes shapes sex-biased biology

The paper analyzes functional divergence between X and Y gametologs across human tissues and finds that evolutionary distance correlates with functional divergence and sex-biased biology.

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

Sex-biased gene expression across tissues reveals unexpected differentiation in the gills of the threespine stickleback

The paper characterizes sex-biased gene expression in liver, gills, and brain of threespine sticklebacks, finding high differentiation in gills and liver but not brain, and links sex bias to dosage compensation and Y chromosome degeneration.

Altered RNA-processing provides a mechanistic framework delineating human sex reversal associated with pathogenic variants in the RNA-helicase DHX37

This study identifies how DHX37 variants disrupt RNA processing and gene expression in Sertoli-like cells, leading to 46,XY sex reversal.

The Tgf-β family member Gdf6Y determines the male sex in Nothobranchius furzeri by suppressing oogenesis-inducing genes

This study identifies Gdf6Y as the male sex-determining gene in Nothobranchius furzeri by suppressing female-specific genes through TGF-β signaling.

Developmental pathways underlying sexual differentiation in a U/V sex chromosome system

The paper investigates sexual differentiation in a U/V sex chromosome system using giant kelp, identifying key genes and transcriptome changes associated with male and female development.

Post-transcriptional cross- and auto-regulation buffer expression of the human RNA helicases DDX3X and DDX3Y

The paper shows that DDX3X and DDX3Y exhibit post-transcriptional cross- and auto-regulation, buffering their expression levels in human cells.

A near-complete genome assembly of the bearded dragon Pogona vitticeps provides insights into the origin of Pogona sex chromosomes

The paper constructs a near-complete genome assembly for the bearded dragon Pogona vitticeps and characterizes the Z sex chromosome, identifying key genes involved in sex determination.

A telomere to telomere phased genome assembly and annotation for the Australian central bearded dragon Pogona vitticeps

The paper presents a high-quality, telomere-to-telomere genome assembly and annotation for the central bearded dragon, providing insights into its sex determination mechanisms.

Single-cell RNA sequencing analysis reveals new insights for intersex gonad initiation and early sex differentiation of goats

This study uses scRNA-seq to analyze goat gonad development, identifying key genes and cell types involved in sex differentiation and intersex conditions.

Identification of the sex determination region and the development of a marker to distinguish males and females in megai abalone (Haliotis gigantea)

Dosage compensation of transposable elements in mammals

The paper investigates whether transposable elements (TEs) on the X chromosome undergo XCI or Xa-hyperactivation, finding TEs are only silenced during XCI and not activated during Xa-hyperactivation.

Z-chromosome dosage compensation and sex-specific long non-coding RNAs in octopus

This study identifies Z-chromosome dosage compensation and sex-specific long non-coding RNAs in octopus, revealing evolutionary conservation of dosage compensation mechanisms.

Recurrent sex chromosome turn-over in termites

This study examines the X chromosome evolution in termites, finding that Macrotermes natalensis has a differentiated X chromosome with dosage compensation, while other termite species have younger sex chromosomes, suggesting recurrent sex chromosome turnover.

Chromosomal fusion drives sex chromosome evolution in treehoppers despite long-term X chromosome conservation

The paper examines X chromosome evolution in treehoppers, finding long-term conservation with one exception of an X-autosome fusion in a species.

Persistent Mullerian duct syndrome in dogs: a new insight into organization of AMH and AMHR2 genes

This study investigates the genomic organization of AMH and AMHR2 genes in dogs with PMDS using bioinformatics and WGS data, revealing inaccuracies in current genome assemblies.

Sex chromosomes shape the transcriptional landscape of the preimplantation mouseembryo

This study shows sex chromosomes significantly shape the transcriptional landscape of preimplantation mouse embryos through various mechanisms including Y chromosome effects, X chromosome dosage, imprinting, and Xist.

ZW sex chromosome structure in Amborella trichopoda

The paper presents a haplotype-resolved genome assembly of Amborella trichopoda, identifying a young ZW sex chromosome system with a 3-Megabase sex-determination region that shows limited degeneration.

Deleterious mutations can contribute to the evolution of recombination suppression between sex chromosomes

This study supports the theory that recombination suppression on sex chromosomes evolves due to lower-load advantages and sheltering effects from recessive deleterious mutations.

Self-restrained sex chromosome drive through sequential asymmetric meiosis

The paper identifies a self-restraining sex chromosome driver in D. melanogaster that prevents population extinction by asymmetric segregation during meiosis.

MosCoverY: a new method to estimate mosaic Loss of Y chromosome from NGS sequencing coverage data

MosCoverY estimates mosaic loss of the Y chromosome from NGS sequencing data, showing comparable performance to existing methods and replicating known associations.

Conversion of somatic sex identity in the testis induces female-specific cellular behaviors in the soma and early oocyte specification in the germline

This study shows that loss of chinmo in Drosophila testis causes somatic cells to adopt female-specific behaviors and influence germline sex identity, leading to early oocyte specification.

Measuring X inactivation skew for retinal diseases with adaptive nanopore sequencing

This study uses adaptive nanopore sequencing to measure X inactivation skew in carrier females with X-linked retinal diseases, showing a strong correlation between skew and disease presentation.

Lineage-specific dynamics of erasure of X-upregulation during inactive-X reactivation

The paper investigates lineage-specific coordination of X-chromosome inactivation and active-X upregulation in female cells across different developmental contexts and identifies UTF1 as a mediator of X-upregulation erasure in some lineages.