Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

This study investigates the role of mitochondrial and nuclear genes in sex determination in bivalves, finding that male mtDNA sncRNAs inhibit female development while nuclear factors remain inconclusive.

This study shows that DMRT1 is essential for testis determination in rabbits and also critical for female fertility, revealing its conserved role across vertebrates.

This study shows Wnt4a is essential for genital duct elongation in medaka but not for gonadal sex differentiation, suggesting homology between mouse Mullerian ducts and teleost genital ducts.

The paper identifies Spenito's role in sex-specific metabolic differences in Drosophila fat storage cells, showing it regulates sex determination and metabolic gene expression.

The paper identifies the X chromosome as an ancient feature in insects, conserved across orders and springtails, with a turnover observed in Lepidoptera.

This study identifies a TOPBP1 mutation causing male infertility by disrupting ATR-dependent MSCI dynamics without affecting SB formation.

The paper presents long-read assemblies of 43 diverse human Y chromosomes, revealing extensive structural complexity and variation across 180,000 years of evolution.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.

This study tests if immediate dosage compensation occurs in Drosophila miranda by inducing neo-Y deletions and analyzing gene expression in F1 males.

The paper identifies a Y-linked copy number variation of the TOR gene associated with sexual size dimorphism in seed beetles, suggesting adaptive potential on the Y chromosome.

The paper develops a qPCR technique to identify avian sex using the W chromosome gene HINTW and validates it in chick, quail, and duck embryos.

This study examines chromosomal abnormalities and genetic variants in amenorrheic patients, finding common karyotypes and genotype frequencies associated with primary and secondary amenorrhea.

This study identifies the genetic mechanisms controlling sex-specific piRNA programs in Drosophila, showing that sex chromosome presence and sexual identity regulate piRNA biogenesis.

This paper reviews recent advances in squamate genomics, highlighting the exponential growth in high-quality genome assemblies and their utility for studying sex chromosome and microchromosome evolution.

The paper identifies X-linked genes that escape X-inactivation in twins across tissues, showing variability between individuals and suggesting genetic and environmental influences.

The paper identifies TOX3 as a transcription factor regulated by DMRT1 that modulates steroidogenic cell lineage expansion in chicken gonads.

This paper shows that Lhx2 in germ cells is important for testicular tubular organization in mice, affecting multiple cell types and vascular development.

This study identifies an XX/XY sex determination system in the cnidarian Hydractinia symbiolongicarpus, establishing it as a model for studying sex determination in non-bilaterian animals.

The paper shows that the inactive X chromosome modulates the expression of the active X chromosome in humans, affecting 38% of X-linked genes and contributing to sex differences in disease.

The paper investigates the genetic mechanisms of sexual dimorphism in the milkweed bug, showing distinct roles of doublesex, intersex, and fruitless in different dimorphic structures.

This paper describes in-vitro protocols to differentiate mouse and human pluripotent cells into gonadal progenitors, revealing their functional equivalence to in-vivo cells and modeling DSDs.

The paper identifies sex differences in gene expression in placenta at different pregnancy stages and shows these differences are conserved in adult tissues.

The paper shows that fadrozole induces ovotestis in female chicken embryos by creating PAX2-positive undifferentiated supporting cells, while male embryos treated with estrogen lack these cells.

The paper shows DLC3/Cv-c is essential for testis development in humans and Drosophila, with the StART domain mediating function independent of the GAP domain.

The paper identifies 178 genes with sex-dependent essentiality in cancer cell lines by analyzing CRISPR screens and integrating with gene expression and mutation data.

This study shows that age-related skewed X chromosome inactivation in females is linked to increased cardiovascular disease risk and cancer incidence.

The paper uses isogenic hiPSCs to study monosomy X effects on trophoblast gene expression and finds altered placental gene levels and preserved co-expression modules in placental tissues.

The paper investigates dosage compensation in silkworm males by analyzing allele-specific expression and finds both Z chromosomes are transcriptionally downregulated.

The paper shows that Wolffian duct mesenchyme persists in female embryos and contributes to female reproductive tract formation through unique transcriptomic and anatomical changes.

This study uses RNA-seq to analyze gene expression in male and female avian primordial germ cells, revealing sex-biased gene expression and suggesting a combination of cell-autonomous and somatic regulation in sex determination.