Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

X-chromosome inactivation in human iPSCs provides insight into escape-regulated gene expression.

This study examines escape from X-chromosome inactivation in female hiPSCs, revealing non-random patterns and their impact on gene expression and sex differences.

A female heterogametic ZW sex-determination system in Acariformes

The paper identifies a female-heterogametic ZW sex-determination system in Hermannia gibba, a species of oribatid mite, using genome assembly and allele-frequency analysis.

Gene-specific reactivation of X-linked genes upon Xist loss is linked to the chromatin states in extraembryonic endoderm and epiblast stem cells

The paper investigates how Xist loss affects X-linked gene reactivation in XEN and EpiSC, showing that chromatin states determine gene silencing stability.

Population variability in X-chromosome inactivation across 9 mammalian species

The paper measures XCI ratios across 9 mammalian species and finds stochasticity, not genetics, primarily explains XCI variability.

DMRT1 is a Testis Determining Gene in Rabbits and is Also Essential for Female Fertility

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

Quantification of escape from X chromosome inactivation with single-cell omics datasets reveals heterogeneity across cell types and tissues

The paper introduces scLinaX, a method to quantify X chromosome inactivation escape using scRNA-seq, revealing heterogeneity across cell types and tissues.

Functional coherence of the Xist and RSX protein interactomes: X chromosome inactivation marsupials

The paper identifies the RSX interactome in marsupials and shows functional coherence with the Xist interactome in XCI.

Wnt4a is indispensable for genital duct elongation but not for gonadal sex differentiation in the medaka Oryzias latipes

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.

Unraveling the role of Xist in X chromosome inactivation: insights from rabbit model and deletion analysis of exons and repeat A

This study investigates the role of Xist in X chromosome inactivation using a rabbit model, showing that certain exons and repeat regions are less critical for XCI maintenance.

Spenito-dependent metabolic sexual dimorphism intrinsic to fat storage cells

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.

Ghost W chromosomes and unique genome architecture in ghost moths of the family Hepialidae

This study investigates the W chromosome in ghost moths, revealing large genomes, absence of typical sex chromatin, and potential origin from a B chromosome.

Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation

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 complete sequence of a human Y chromosome

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

KDM6A facilitates Xist upregulation at the onset of X inactivation

This study shows that KDM6A is required for Xist upregulation during X inactivation initiation in mouse ES cells, as its knockout impairs Xist RNA coating and leads to aberrant Xi gene expression.

Single-cell transcriptome landscape of developing fetal gonads defines somatic cell lineage specification in humans

The paper maps the single-cell transcriptome of human fetal gonads to define somatic cell lineage specification during development.

Transposable element expression with variation in sex chromosome number: insights into a toxic Y effect on human longevity

The paper investigates the association between transposable element expression and Y chromosome number in humans, suggesting a toxic Y effect on male longevity.

Testis morphogenesis and fetal Leydig cell development are mediated through ERK signaling activated by platelet derived growth factor receptor alpha

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

Prevalence, Morbidity, and Mortality of 1,609 Men with Diagnosed and Undiagnosed Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program (MVP) Cohort

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.

A novel qPCR-based technique for identifying avian sex: an illustration within embryonic craniofacial bone

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.

Dynamic X-chromosomal reactivation enhances female brain resilience

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

Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients

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

Genetic control of a sex-specific piRNA program

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

A lizard is never late: squamate genomics as a recent catalyst for understanding sex chromosome and microchromosome evolution

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.

Chromosome-level assemblies of the Pieris mannii butterfly genome suggest Z-origin and rapid evolution of the W chromosome

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.

Using a handful of transcriptomes to detect sex-linked markers in a lizard with homomorphic sex chromosomes

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.

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

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

DMRT1 regulation of TOX3 modulates expansion of the gonadal steroidogenic cell lineage

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

LHX2 in germ cells control tubular organization in the developing mouse testis

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

XY sex determination in a cnidarian

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 human inactive X chromosome modulates expression of the active X chromosome

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.