Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Regulation of Sex-biased Gene Expression by the Ancestral X-Y Chromosomal Gene Pair Kdm5c-Kdm5d

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.

Paternal genome elimination, monogenic reproduction, and the evolutionary genetics of atypical sex chromosome systems

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

A novel downstream factor in willows replaces the ancestral sex determining gene

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

Where is the boundary of the human pseudoautosomal region?

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.

Four-Core Genotypes mice harbour a 3.2MB X-Y translocation that perturbs Tlr7 dosage

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

Independent effects of testosterone, estradiol, and sex chromosomes on gene expression in immune cells of trans- and cisgender individuals

Frequencies of house fly proto-Y chromosomes across populations are predicted by temperature heterogeneity within populations

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.

Genomic sequencing to detect cross-breeding quality in dogs: an example studying disorders in sexual development

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.

Dosage compensation and sexual conflict in female heterogametic methylomes

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 Hypolimnas misippus genome supports a common origin of the W chromosome in Lepidoptera

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.

Zebrafish Foxl2l functions in proliferating germ cells for female meiotic entry

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.

Autosomal suppression of sex-ratio meiotic drive influences the dynamics of X and Y chromosome coevolution

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.

Single-cell X-chromosome inactivation analysis links biased chimerism to differential gene expression and epigenetic erosion

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.

A Sex specific homologue of snake Waprin is essential for Embryonic Development in the Red Flour Beetle, Tribolium castaneum

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

Multi-layered dosage compensation of the avian Z chromosome

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.

Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Design, and Methods for the GALAXY Registry

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

Diverse somatic Transformer and sex chromosome karyotype pathways regulate gene expression in Drosophila gonad development

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.

Testicular mosaicism in non-mosaic postpubertal Klinefelter patients with focal spermatogenesis and in non-mosaic prepubertal Klinefelter boys

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.

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types

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.

A second X chromosome improves cognition in aging male and female mice

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

Evolution of the sex-determination gene Doublesex within the termite lineage

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

Evolutionary and biomedical implications of sex differences in the primate brain transcriptome

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.

Rbpms2 promotes female fate upstream of the nutrient sensing Gator2 complex component, Mios

The paper identifies Rbpms2 as a regulator of oocyte fate by repressing testis factors and promoting oocyte factors through the Gator2 complex in zebrafish.

An iPSC-based model of Jacob Syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with X aneuploid cells.

This study uses iPSCs to analyze transcriptional dysregulation in Jacob Syndrome, finding shared gene expression patterns with Klinefelter Syndrome and a DNA methylation-independent mechanism.

Identification of BiP as a temperature sensor mediating temperature-induced germline sex reversal

The paper identifies BiP as a temperature sensor that mediates temperature-induced germline sex reversal in C. elegans by transducing temperature signals into germline sex determination.

Transposon fusion gave birth to Fem, Bombyx mori female determining gene

The paper identifies Fem, a W-linked piRNA precursor in Bombyx mori, as a chimeric sequence derived from transposons, challenging previous hypotheses about its origin.

SLRfinder: a method to detect candidate sex-linked regions with linkage disequilibrium clustering

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

A candidate sex determination locus in amphibians, evolved by structural variation between X- and Y-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.

X-chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome

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

XIST dampens X chromosome activity in a SPEN-dependent manner during early human development

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.