Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The paper investigates the heritability of primary sex ratios in Lycoriella ingenua, finding evidence for heritable variation but no significant environmental effect.

The paper investigates how sexual dimorphism in wing color patterns of the harlequin ladybug evolves by analyzing the role of the doublesex gene and its regulation of the h gene.

The paper identifies a transcriptional regulatory network in murine gonadal supporting cells that underlies sex differentiation, revealing how chromatin changes and gene expression drive Sertoli and granulosa cell fates.

The paper identifies sex-biased genes and eQTL across the human genome, showing their association with autoimmune diseases and sex differences in gene regulation.

This study presents a high-quality genome assembly of Anolis distichus, revealing insights into neo-sex chromosome evolution and differential evolutionary pressures.

The paper investigates dosage compensation in the eastern three-lined skink, finding that X chromosome expression in sex-reversed individuals matches their genotype rather than phenotype.

This paper reviews 20 years of sex chromosome aneuploidy studies, finding geographic concentration and underrepresentation of diverse racial, ethnic, and socioeconomic groups in participant demographics.

The paper identifies a conserved CSD locus in Ooceraea biroi where heterozygosity triggers female development, showing evolutionary conservation across ant species.

This paper identifies a Y-linked duplication of the anti-Mullerian hormone gene (amhy) as the primary sex determination gene in threespine stickleback, showing its necessity and sufficiency for male sex determination.

This study shows that X chromosome dosage compensation mechanisms evolved independently in two nematode lineages through parallel evolution of SMC complexes.

The paper generates isogenic hiPSCs with controlled sex chromosomes to study sex differences and X-haploinsufficiency effects on gene expression.

This study characterizes the U and V sex chromosomes in red algae, revealing their evolutionary origin and structural features, and highlights their role in sex determination.

The paper identifies a genomic region containing a gene related to male sexual differentiation in the pill bug Armadillidium vulgare, potentially involved in sex-ratio distortion.

The paper shows that X-chromosome upregulation occurs gene-by-gene at both RNA and protein levels in mouse pluripotent stem cells.

The paper uses single-cell RNA-seq to show no evidence of meiotic sex chromosome inactivation in threespine stickleback fish, suggesting MSCI is not conserved in teleosts.

This study compares the sequence evolution of sex-determination related genes in bivalves, mammals, and Drosophila, finding shared patterns in bivalves and mammals but not in Drosophila.

This study investigates the evolution of sex-determining genes in anurans, finding that gene duplication is rare and sex chromosome turnover is driven by mutations in developmental pathway genes rather than translocation.

The paper investigates the evolutionary conservation of Meiotic Sex Chromosome Inactivation (MSCI) across Drosophila species by analyzing transcriptomes during spermatogenesis, revealing its role in regulating gene expression patterns.

This study maps sex-specific transcriptome dynamics in Anopheles gambiae embryos, revealing early sex-biased gene expression and dosage compensation mechanisms.

The paper compares brain transcriptomes of four sexual genotypes in African pygmy mice to show that both gonadal and chromosomal sex influence gene expression, with X*Y females showing unique patterns linked to sex-linked genes.

This study identifies sex-biased gene expression, alternative splicing, and isoform dynamics in bovine embryos, linking male-biased metabolism to faster development and female-biased X-linked gene expression to sex-specific regulation.

The paper analyzes brown algal genomes to trace the origin and evolution of U/V sex chromosomes, revealing gene gain-driven evolution and the demise of these systems through hermaphroditism and gene hierarchy shifts.

The paper reports the genome of the Amazon guppy, revealing conserved sex chromosomes and complete X chromosome dosage compensation despite Y chromosome degeneration.

The paper investigates the evolution of sex chromosomes in varanid lizards, showing retrotransposons mediated gene recruitment and recombination suppression in the W chromosome.

The paper identifies the Y-chromosome in newts and finds it not homologous to the balanced lethal system, refuting a proposed sex chromosome origin for the system.

The paper shows that deleting Xist upstream sequences disrupts TAD organization, affects Xist expression, and leads to dysregulation of autosomal genes.

This study identifies Ctr9t, a testis-specific paralog of Paf1C subunit, as critical for male germline differentiation and sex chromosome gene regulation in Drosophila.

The paper identifies key transcription factors and regulatory elements involved in mouse gonadal sex determination through integrated transcriptomic and chromatin accessibility analyses.

This study investigates sex chromosome evolution in Nothobranchius killifishes, identifying multiple origins and structural differences in sex chromosomes across species.