Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The paper identifies a locus on the X chromosome in Cannabis sativa that contains three genes potentially controlling sex determination, with distinct expression patterns across monoecious and dioecious plants.

This study identifies sex-biased gene expression patterns across multiple cortical regions and cell types in the human brain using single-cell transcriptomics.

This study uses a porcine model to show that germ cell depletion leads to defects in gonadal somatic cell development, highlighting germ cells' role in shaping gonadal structure.

This study analyzes gene regulatory programs in primate gonads, finding shared and species-specific regulatory dynamics and candidate genes for sex development disorders.

The paper shows that loss of chromosome Y in immune cells of aging men affects cell fate and X-chromosome inactivation patterns.

The paper proposes and evaluates the W-mtDNA Drive Hypothesis to explain low within-population mitochondrial DNA diversity and between-population mitochondrial transfer.

The paper sequences the rat Y chromosome and reveals a short pseudoautosomal region with high recombination rate and unique evolutionary features.

The paper investigates sex-ratio meiotic drive in Drosophila obscura by identifying a driver gene and a suppressor miRNA, revealing an evolutionary arms race between them.

The paper identifies two candidate genes involved in sex determination in the dioecious wild yam Dioscorea tokoro using whole-genome sequencing and genetic analysis.

This paper reevaluates Muller's sheltering hypothesis for sex chromosome evolution, finding that restrictive assumptions in earlier models may have excluded its validity.

This study identifies convergent evolution of H4K16ac-mediated dosage compensation in a ZW species and links it to sex-dependent lifespan differences.

The paper shows that the pioneer factor Zelda induces female-specific traits in male Drosophila tissues by upregulating genes that promote feminization and override male identity.

The paper examines sex chromosomes in 14 elasmobranch species, identifying conserved X chromosomes and a shared candidate gene for sex determination.

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.

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.

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

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

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.

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

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.

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.

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.

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 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.