Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

The genetic origin and architecture of sex determination

The paper links sex determination and sexual dimorphism across species to polyamine biochemistry and gene synteny, suggesting LUCA had viral defense mechanisms.

SPEN is Required for Xist Upregulation during Initiation of X Chromosome Inactivation

This study shows that SPEN is essential for Xist upregulation during X chromosome inactivation initiation in female mouse ESCs by silencing Tsix.

A RIF1/KAP1-based toggle switch stabilises the identities of the inactive and active X chromosomes during X inactivation

The paper identifies RIF1 and KAP1 as key factors in establishing an asymmetric state during X inactivation by coordinating Tsix and Xist expression.

Repeated translocation of a supergene underlying rapid sex chromosome turnover in Takifugu fish

The paper identifies a shared supergene involved in sex chromosome turnover across three Takifugu species, showing repeated translocations of this supergene as the mechanism for sex determination locus changes.

Harnessing natural variation to identify cis regulators of sex-biased gene expression in a multi-strain mouse liver model

The paper identifies cis regulators of sex-biased gene expression in mouse liver by comparing two strains and linking genetic variants to epigenetic and transcriptomic differences.

Chigno/CG11180 and SUMO are Chinmo-Interacting Proteins with a Role in Drosophila Testes Stem Cells

The paper identifies Chinmo-interacting proteins Chigno/CG11180 and SUMO in Drosophila testes stem cells, showing their role in maintaining testis function and preventing germ cell tumors.

The genome of New Zealand trevally (Carangidae: Pseudocaranx georgianus) uncovers a XY sex determination locus

The paper reports the genome of New Zealand trevally, identifies a XY sex determination locus, and finds a likely role for the cyp19b-like gene in sex determination.

The lupus autoantigen La is an Xist-binding protein involved in Xist folding and cloud formation

This study identifies La as an Xist-binding protein essential for X chromosome inactivation, showing its role in Xist folding and cloud formation through functional and imaging analyses.

X-Linked Histone H3K27 Demethylase Kdm6a Regulates Sexually Dimorphic Differentiation of Hypothalamic Neurons

This study shows Kdm6a regulates sex differences in hypothalamic neurons by affecting axon length and Ngn3 expression in XX neurons before masculinization.

Fetal estrogens are not involved in sex determination but critical for early ovarian differentiation.

The paper shows that fetal estrogen production is not required for ovarian determination but is essential for ovarian development and follicle formation in rabbits.

Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height

The paper identifies SHOX as a sex-biased gene with random monoallelic expression contributing to sex differences in height.

Patterns and Mechanisms of Sex Ratio Distortion in the Collaborative Cross Mouse Mapping Population

The paper quantifies sex ratio distortion in CC mouse strains and shows it arises from multilocus interactions of selfish sex-linked elements.

Epigenetic mechanisms of partial dosage compensation in an avian, female heterogametic system

The paper investigates partial dosage compensation in female heterogametic avian systems by analyzing gene expression, ATAC-seq, and 5mC methylation in Eurasian crows.

Single-cell RNA-sequencing reveals pre-meiotic X-chromosome dosage compensation in Drosophila testis

The paper uses scRNA-seq to analyze X-chromosome transcription in Drosophila testis, finding that dosage compensation occurs in somatic and pre-meiotic cells but not in meiotic or post-meiotic cells.

Assembled chromosomes of the blood fluke Schistosoma mansoni provide insight into the evolution of its ZW sex-determination system

The paper assembles the chromosomes of Schistosoma mansoni, revealing insights into the evolution of its ZW sex-determination system through gene annotation and synteny analysis.

TGIF1 is required for chicken ovarian cortical development and generation of the juxtacortical medulla

This study identifies TGIF1 as essential for chicken ovarian cortical and juxtacortical medulla development, independent of supporting cell sex lineage.

A conserved role of the duplicated Masculinizer gene in sex determination of the Mediterranean flour moth, Ephestia kuehniella

The paper identifies and characterizes duplicated Masc genes in Ephestia kuehniella, showing their conserved role in male sex determination through expression patterns and RNAi experiments.

Large palindromes on the primate X Chromosome are preserved by natural selection

The paper identifies 26 conserved palindromes on the human X Chromosome and finds that natural selection preserves protein-coding gene families within them, while spacers show structural instability.

Integrative genomics reveals paths to sex dimorphism in Salix purpurea L.

The paper identifies master regulator genes and pathways involved in sex dimorphism in Salix purpurea using integrative genomics approaches.

Whole-chromosome fusions in the karyotype evolution of Sceloporus (Iguania, Reptilia) are more intense in sex chromosomes than autosomes

The paper investigates karyotype evolution in Sceloporus lizards, finding that microchromosome fusions are more common in sex chromosomes than autosomes.

Pericentromeric heterochromatin impacts genome compartmentalization and sex chromosome evolution in a fish

The paper shows that pericentromeric heterochromatin (PCH) influences chromosome compartmentalization and contributes to the evolution of homomorphic sex chromosomes in fish.

GC-biased gene conversion in X-Chromosome palindromes conserved in human, chimpanzee, and rhesus macaque

The paper shows GC-biased gene conversion drives GC content elevation in X-chromosome palindromes across human, chimpanzee, and rhesus macaque.

A De Novo Genome Assembly, Gene Annotation, And Expression Atlas For The Monarch Butterfly Danaus plexippus

This study provides a reference genome, gene annotation, and expression atlas for the monarch butterfly, revealing gene expression patterns and sex-specific regulation across its life cycle.

A compendium of novel genomics technologies provides a chromosome-scale assembly and insights into the sex determining system of the Greenland Halibut

This study provides a chromosome-scale genome assembly for Greenland Halibut and identifies a nascent XY sex determination system with a putative Y-autosomal fusion.

A novel cis regulatory element regulates human XIST in CTCF-dependent manner

The paper identifies a novel cis regulatory element in human XIST that is regulated by CTCF and YY1 during X chromosome inactivation.

Involvement of the doublesex gene in body color masculinization of the blue-tailed damselfly, Ischnura senegalensis

The paper investigates the role of the doublesex gene in body color masculinization in Ischnura senegalensis, finding that dsx short isoform RNAi alters color patterns to gynomorphic females.

Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome

The paper develops PCR-based assays to rapidly and efficiently identify Klinefelter syndrome mouse models by detecting Sry, Amelx copy number, and Xist RNA levels.

Island-specific evolution of a sex-primed autosome in the planarian Schmidtea mediterranea

The paper identifies chromosome 1 in Schmidtea mediterranea as a sex-primed autosome through genomic analysis showing restricted recombination and sex-specific gene expression.

Loss of Mafb and Maf distorts myeloid cell ratios and disrupts fetal mouse testis vascularization and organogenesis

The paper shows that deleting Mafb and Maf genes in fetal mouse gonads causes monocyte overproduction and defects in vascularization and testis development.

The role of Cyp19a1 in female pathway of a freshwater turtle (Mauremys reevesii) with temperature-dependent sex determination