Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Re-inventing sex: A W chromosome and a path out of parthenogenesis for Bunonema nematodes

The paper describes the evolution of a new W chromosome in Bunonema nematodes that helps escape lethal mutations from parthenogenesis.

Contrasting modes of dosage compensation on ancestral and neo-Z chromosomes in butterflies

This study examines dosage compensation mechanisms on ancestral and neo-Z chromosomes in butterflies, revealing varied gene expression patterns and highlighting the role of evolutionary history and gene function in shaping these mechanisms.

Sexually antagonistic environments and the stability of environmental sex determination

The paper examines how sexually antagonistic environmental conditions influence the evolution and stability of environmental sex determination (ESD) through Charnov-Bull effects.

Gene-transcription factor regulatory networks implicate primary cilia in the evolution of vertebrate sex determination and expand models of epigenetic regulation

This paper models regulatory networks in turtles with different sex determination mechanisms to identify evolutionary changes in gene regulation and highlights the role of primary cilia in TSD.

DNA Methylation in Sex Chromosomes and Genes under Selection Underpins the Emergence of Sexual Size Dimorphism

The paper investigates DNA methylation's role in sexual size dimorphism in Cynoglossus semilaevis, finding sex-specific methylation patterns and their evolutionary implications.

Transcription-dependent heterochromatin at the Xist promoter shapes the random choice of the inactive X chromosome

The paper identifies H3K9me3 accumulation at the Xist promoter as a transcription-dependent mechanism that influences random XCI choice in female cells.

Recombination on 'non-recombining' sex chromosomes: empirical insights from the blackspotted stickleback

The paper identifies a recombination event within a non-recombining sex chromosome in blackspotted sticklebacks, challenging the notion that recombination suppression is irreversible.

Evolutionary dynamics of sex chromosomes and candidate sex-determining genes across the beetle phylogeny

This study examines sex chromosome evolution in beetles using genome assemblies, finding conserved X regions, variable Y chromosomes, and independent neo-X and neo-Y formation.

Monotremes provide novel insights into evolution of the DMRT gene family in vertebrates

The paper analyzes DMRT gene family evolution in monotremes and other vertebrates, identifying conserved genes and unique features in monotremes.

Sex-biased expression in whole bodies, tissues and cell-types: patterns across and within levels

The paper examines sex-biased gene expression across whole bodies, tissues, and cell-types in Drosophila, showing that whole body sex bias reflects both local regulation and compositional differences, with reproductive tissues playing a key role in adaptive evolution.

Emergence and stabilisation of a neo-Y chromosome in nematode species with rare males

The paper shows that a neo-Y chromosome emerged in nematodes with rare males, showing degeneration and male-beneficial genes, supporting its maintenance in autopseudogamy.

A conserved regulatory atlas reveals enhancers critical for mouse and human gonadal development

The paper constructs a comparative regulatory atlas of gonad development using mouse and human data, identifies a conserved enhancer critical for gonadal development, and prioritizes non-coding variants in DSD patients.

Genome editing of marsupial RSX reveals conserved and divergent principles in mammalian X-inactivation

This study uses CRISPR-Cas9 in opossums to show RSX is required for initiating X-inactivation, with divergent Polycomb regulation compared to eutherians.

Neo-sex Chromosomes Anchor a Sex-Limited Polymorphism Under Gene Flow

The paper shows that a male-limited color polymorphism in Anolis distichus is maintained by a neo-sex chromosome, with additive genetic contributions from neo-Y haplotypes and autosomal variants.

Direct probabilistic quantification of mosaic loss of chromosome Y from sequencing data

This paper introduces BaySeq-Y, a Bayesian method to directly quantify mosaic loss of chromosome Y from sequencing data, showing improved accuracy over existing methods.

Age-related erosion of X chromosome inactivation in human tissues

The paper investigates age-related X chromosome inactivation (XCI) erosion in human females using bulk and single-cell datasets, finding age-dependent escape from XCI in specific genes.

Coexisting Y haplotypes reveal cyclic sex chromosome differentiation around a shared sex-determining region

The paper investigates sex chromosome evolution in frogs by analyzing coexisting Y haplotypes, revealing cyclic differentiation dynamics rather than unidirectional degeneration.

Doublesex-mediated regulation of insulin signaling drives sex-specific body growth

The paper identifies female-specific Doublesex splice variants that activate insulin-like peptide 2 to drive female-biased body growth in the rice stem borer.

Thermally driven sex reversal reveals divergent sex determination dynamics in wild viviparous reptile populations

The paper shows sex reversal in wild viviparous reptiles under thermal stress, revealing climate impacts on sex determination.

X chromosome inactivation as a novel mechanism for chondrogenesis

This study shows BMP signaling induces X-inactivation and promotes chondrogenesis in both sexes by suppressing X-linked genes like Tmsb4x.

PhaseWY: A pipeline for haplotype phasing, sex chromosome identification and extraction of sex-limited sequences

PhaseWY is a pipeline that identifies sex-chromosomal regions and extracts Y/W sequences from whole-genome sequencing data, demonstrating its utility in non-model organisms.

DNA methylation regulates a key sex differentiation gene in Pogona vitticeps, a dragon lizard with sex reversal

The paper investigates DNA methylation's role in sex differentiation in Pogona vitticeps, finding that Amh gene expression is regulated by methylation in both genetic and temperature-induced females.

Characterising differential gene expression and alternative splicing in a sex reversing skink, Bassiana duperreyi

The paper investigates alternative splicing and gene expression differences in three sex conditions of the eastern three-lined skink, identifying sex reversal-specific intron retention in Ttll7.

Dosage compensation defects due to roX RNA deletion are rescued by recalibration of X/autosome stoichiometry

The paper shows that deletion of roX RNA in Drosophila male cells leads to X chromosome duplication to compensate for dosage imbalance, and full-length roX2 restores normal function.

Xist expression in male Peromyscus leucopus is associated with restricted chromatin repression and incomplete X-to-autosome dosage compensation

This study identifies robust Xist expression in male Peromyscus leucopus somatic cells, showing gene-selective repression rather than global X-chromosome inactivation.

Gonadal PIP-seq reveals genes involved in germ cell development and sexual differentiation in sea lamprey ( Petromyzon marinus )

The paper uses PIP-seq to analyze gonadal cell transcriptomes in sea lamprey, identifying gene expression patterns associated with germ cell development and sexual differentiation.

Two melanic pigment patterns are associated with a sex chromosome-linked oncogene in the mountain swordtail Xiphophorus nezahualcoyotl

This study identifies two melanic pigmentation patterns in Xiphophorus nezahualcoyotl linked to the sex chromosome-linked oncogene xmrk through long-read sequencing and GWAS.

Rapid turnover of sex-determining architecture in invasive mussels

The paper compares sex-determining architectures in zebra and quagga mussels, finding divergent genetic systems and identifying potential contributors to rapid evolutionary changes in sex determination.

Sex chromosomes and sex hormones contribute jointly and independently to sex biases in cardiac development.

The paper investigates how sex chromosomes and gonadal hormones jointly and independently influence sex-biased gene expression in cardiac development across multiple stages.

Supporting-like cells constitute an alternative steroidogenic lineage conserved in amniotes

The paper identifies supporting-like cells as an alternative steroidogenic lineage in mammals, conserved across amniotes, and shows their role in embryonic development and evolution.