Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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.

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.

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

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.

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.

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.

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

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.

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

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

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.

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.

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.

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

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.

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

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.

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

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.

This paper develops a Bayesian method to estimate mosaic loss of chromosome Y from bulk RNA-seq data, showing it can detect large LOY events with moderate accuracy.

This study shows that sex chromosomes have a larger effect on gene expression in somatic tissues than gonadal sex, while gonadal sex has a larger effect in gonads, using threespine stickleback fish.

The paper investigates a female-limited color polymorphism in Anolis sagrei, showing that allelic variation at CCDC170 affects color patterns through estradiol-dependent gene expression.

The paper investigates how evolutionary origins and chromatin states influence X-chromosome upregulation patterns in eutherian and metatherian embryogenesis.

The paper investigates the association between menopause and XCI-skew in females, finding early surgical menopause and low testosterone polygenic scores increase XCI-skew risk.

The paper investigates how sex chromosome aneuploidy affects gene expression and DNA methylation in different cell types, revealing cell-type specific dosage compensation mechanisms.

The paper investigates how sex-biased gene expression influences sex differences in gene essentiality using CRISPR screens and transcriptomic data.

The paper identifies a female-specific GHR gene copy on the W chromosome that correlates with reverse sexual size dimorphism in certain bird lineages.

The paper investigates maternal genetic sex determination in fungus gnats, showing reproductive morphs diverge in life history traits and gene expression, supporting adaptive specialisation.

The paper identifies the Y-linked gene draupnir in Anopheles gambiae, showing it escapes transcriptional silencing during spermatogenesis and is necessary for Y-chromosome-based sex-ratio distortion.

The paper studies Y chromosome evolution in Mercurialis annua, identifying two recombination suppression stages and a candidate master sex-determination gene.