Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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

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

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

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.

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.

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.

The paper shows that the X-Y gene pair Kdm5c-Kdm5d regulates sex-biased gene expression in mouse ESCs, with loss of either gene neutralizing sex bias.

The paper develops theoretical models to test evolutionary genetic principles in species with paternal genome elimination and monogeny.

The paper identifies a novel sex-determining gene in willows that replaces the ancestral ARR17-like duplicates in the S. polyclona complex.

The paper re-examines the boundary of the human pseudoautosomal region 1 (PAR1) using genomic data and finds evidence supporting its original position, narrowing it to a 201-bp window.

The paper identifies an X-Y translocation in Four-Core Genotypes mice that increases Tlr7 expression and affects genetic interpretation.

The paper measures proto-Y chromosome frequencies in house fly populations across the U.S. and finds that temperature range, not latitudinal clines, explains their distribution.

This study uses genomic sequencing to investigate genetic factors contributing to Disorders of Sexual Development in a French Bulldog and links findings to breeding practices.

This study shows that NF-κB signaling is necessary for maintaining X-chromosome inactivation in female T cells after activation.

The paper examines DNA methylation patterns in avian species, finding that dosage compensation is not achieved through methylation on the Z chromosome but rather through other mechanisms, with implications for sexual conflict resolution.

The paper presents genome assemblies of two Hypolimnas species and analyzes the evolution of W chromosomes in Lepidoptera, suggesting a common origin despite conflicting hypotheses.

This study identifies Foxl2l as a key regulator of female meiosis in zebrafish, showing its role in preventing premeiotic germ cell accumulation and promoting oogenesis.

This study uses simulations to show that autosomal suppressors can block the invasion of Y-linked suppressors and prevent cyclic dynamics in sex chromosome evolution.

The paper introduces a computational method to analyze X-chromosome inactivation at the single-cell level using sc/snRNA-Seq data and shows its application in identifying biased inactivation and its association with gene expression and epigenetic changes.

The paper identifies a female-specific waprin homologue in Tribolium castaneum essential for embryonic development, independent of the sex-determination cascade.

The paper examines dosage compensation mechanisms on the avian Z chromosome in female, male, and intersex chickens, revealing transcriptional and translational strategies similar to mammalian X-chromosome compensation.

The paper introduces the GALAXY Registry, a longitudinal study aimed at improving diagnosis and understanding of sex chromosome aneuploidies through increased demographic diversity.

The paper investigates how somatic Transformer and sex chromosome karyotype pathways regulate gene expression during Drosophila gonad development, showing their combined and exclusive effects on germ cell development.

The paper investigates testicular mosaicism in non-mosaic Klinefelter Syndrome patients, finding that spermatogonia are euploid while surrounding Sertoli cells show karyotype differences between prepubertal and postpubertal stages.

The paper identifies sex-chromosomal and autosomal gene responses to Xi and Y dosage in four human cell types, showing robustness in sex-chromosomal effects and cell-type-specific autosomal responses.

The paper shows that a second X chromosome in aging mice improves cognition, with female gonads and sex chromosomes contributing to cognitive resilience.

The paper examines the evolution of the Doublesex gene in termites, finding structural and expression differences that may relate to caste development.

The paper studies neo-sex chromosome evolution in butterflies, finding that rare recombination can reverse degradation and create divergence plateaus on neo-W chromosomes.

The paper analyzes sex-biased gene expression in rhesus macaque brains to understand its evolutionary and biomedical implications, finding similarities with human patterns and associations with neurodevelopmental disorders.