Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The paper investigates the role of PDGFRA and ERK signaling in fetal testis morphogenesis and Leydig cell development using genetic and molecular approaches.

The paper examines the prevalence, morbidity, and mortality of sex chromosome aneuploidy in men from the MVP cohort, finding a prevalence of 1 in 370 males with higher healthcare utilization and poorer HRQoL but similar life expectancy compared to controls.

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.

The paper shows that reactivation of inactive X-chromosome alleles in female neural cells during differentiation enhances resilience to X-linked neurodevelopmental disorders.

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 presents chromosome-level genome assemblies of Pieris mannii and its sister species, revealing the W chromosome's origin from Z-autosome fusion and its rapid evolution.

The paper identifies sex-linked markers in a lizard with homomorphic sex chromosomes using transcriptomes from 3 males and 3 females, enabling PCR-based sexing and comparative analysis of sex determination systems.

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 study shows that loss of NR5A1 in Sertoli cells after sex determination leads to their transdifferentiation, anoikis, and testis abnormalities.

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 identifies Y-linked protamine-like genes as meiotic drivers in Drosophila by showing they cause nuclear decompaction and biased demise of X-bearing sperm through dominant-negative effects.

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.

This study shows that Xist regulates Xi compaction and TAD boundaries in B cells, impacting XCI maintenance and X-linked gene expression.

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.

This study identifies associations between Y-chromosome loss, sex hormone levels, and clonal hematopoiesis in men using UK Biobank data.

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 compares the effects of sex chromosome trisomies on brain anatomy in humans and mice, finding species-specific patterns and some conserved regional impacts.

This study investigates the roles of zebrafish dmrt family genes in sex determination and oogenesis, revealing cooperative and antagonistic interactions among dmrt1, dmrt2a, and dmrt3.