Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

This study identifies a novel sex-linked region in Salix nigra, demonstrating XY heterogamety and recombination suppression, with implications for understanding sex chromosome evolution in plants.

The paper shows that trans-homolog interactions between X-linked alleles regulate sex-biased expression of the yellow gene in Drosophila.

The paper identifies Polycomb's role in suppressing a female gene regulatory network in Sertoli cells to maintain testicular differentiation.

The paper investigates how germline sex determination regulates signaling between germline stem cells and their niche, showing JAK/STAT signaling promotes male identity while Sex lethal blocks it in XX cells.

This study shows that knocking out the HMG domain of the porcine SRY gene causes sex reversal in pigs, leading to female genitalia in genetically male pigs.

This study identifies autosomal genetic factors that interact with growth hormone to regulate sex-specific gene expression in mouse liver, revealing over 200 instances of sex-specificity changes across strains.

The paper identifies gsdf as a novel sex determining gene in Atlantic halibut by analyzing genome structure and recombination patterns.

The paper assembles and analyzes the genomes of female and male spinach to study sex determination mechanisms, identifying key features of the sex chromosomes.

MADloy improves mLOY detection using genotype-array-intensity data, showing better accuracy and statistical power in disease association studies.

The paper studies the pseudoautosomal boundary (PAB) evolution in strepsirrhine primates and finds it has remained stable, unlike in haplorrhines where PAB shifts occurred due to recombination suppression.

This study identifies Aalbdsx as critical for ovarian development in Aedes albopictus by regulating the vitellogenin receptor (VgR) gene.

This paper studies meiosis in the African pygmy mouse to reveal early steps in neo-XY sex chromosome differentiation, showing delayed synapsis, suppressed recombination, and unique metaphase-I associations in the neo-PAR.

This study shows that the N-terminal region of MSL1 is essential for MSL complex stability and function in dosage compensation in Drosophila males.

The paper investigates the genetic basis of spontaneous masculinization in XX female rainbow trout using GWAS and WGS, identifying candidate genes associated with maleness.

This study identifies an XY and ZW sex determination system in two Populus species and proposes a model linking transposon activity to sex chromosome turnover.

This study identifies a deletion of FUNDC2 and CMC4 on Xq28 as sufficient to cause hypergonadotropic hypogonadism in men by disrupting apoptosis, inflammation, and FSH regulation.

The paper maps the trajectory of early Drosophila germline cells to reveal mechanisms of zygotic activation and sex determination.

This study investigates the regulatory effects of the Uty/Ddx3y locus on chrY genes and autosomal transcripts in adult mouse non-reproductive cells through gene trap analysis and transcriptomic profiling.

The paper identifies conserved sex-biased DNA methylation patterns in guppy sex chromosomes and related tissues, linking them to testis-specific gene regulation and evolutionary constraints.

This study characterizes the sex determination system and sex chromosomes in goldfish, identifying a large non-recombining region on linkage group 22 as the likely Y chromosome and developing sex-linked genetic markers.

The paper maps the sex-determining region in guppies, confirms its location near the pseudo-autosomal region, and identifies potential assembly errors and linkage disequilibrium.

The paper uses allele-specific single-cell RNA-sequencing to study Xist upregulation and gene silencing during X-chromosome inactivation in mouse embryonic stem cells, identifying Nanog downregulation as a trigger and genetic variation's role in XCI.

This study shows that the Nix gene can convert female Aedes aegypti mosquitoes into fertile males, which can then produce sex-converted offspring, but require mating with wild-type females to fly, and myo-sex is essential for male flight.

The paper identifies cis- and trans-acting factors that drive meiotic DNA break formation in the mouse pseudoautosomal region, revealing structural and molecular mechanisms essential for recombination and segregation.

The paper shows Runt counter-represses Groucho to activate SxlPe in female Drosophila embryos, but not in males.

The paper shows that Sox8 and Sox9 redundantly compensate for Rspo1 loss in female-to-male sex reversal in mice, preventing ovarian-to-testicular reprogramming.

This study shows that Doublesex (Dsx) regulates male-specific traits and genitalia morphology in Nasonia vitripennis during specific developmental stages, highlighting its role in suppressing female traits and promoting male-specific development.

The paper identifies a large amplified intronless gene, Laidx, on the X chromosome in mice, shows its evolutionary origin from a horizontal gene transfer, and finds no reproductive defects in its absence.

This study uses a k-mer-based approach to identify sex-related genomic differences in Arapaima gigas, finding that certain k-mers from repetitive regions show sex-specific variation.