Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Deciphering cell lineage specification during male sex determination with single-cell RNA sequencing

Time-course single-cell RNA-seq of NR5A1-GFP+ mouse XY gonad cells points to one multipotent somatic progenitor pool that yields Sertoli cells and, progressively, steroidogenic Leydig precursors.

Free-living human cells reconfigure their chromosomes in the evolution back to uni-cellularity

The paper studies chromosomal evolution in cancer cell lines, finding that cells lose sex chromosomes and gain autosomes, leading to a 2:3 X:A ratio that may enhance fitness.

Sex Differentiation In Grayling (Salmonidae) Goes Through An All-Male Stage And Is Delayed In Genetic Males Who Instead Grow Faster

Sequence and structural diversity of mouse Y chromosomes

The paper examines sequence and copy number diversity of sex-linked genes in three mouse subspecies, finding reduced sequence diversity in non-repetitive regions consistent with positive selection during spermatogenesis.

Rapid evolution of female-biased genes among four species of Anopheles malaria mosquitoes

The paper investigates the evolutionary dynamics of sex-biased genes in four Anopheles mosquito species, finding female-biased genes evolve faster than male-biased ones due to sex-specific challenges.

Cross-species Y chromosome function between malaria vectors of the Anopheles gambiae species complex

The paper demonstrates that Y chromosomes from two malaria vector species in the Anopheles gambiae complex function interchangeably, suggesting no hybrid incompatibility loci on the Y and enabling potential cross-species sex-distorting Y drive interventions.

Neo-sex chromosomes in the Monarch butterfly, Danaus plexippus

The paper identifies a neo-sex chromosome in the Monarch butterfly and its relatives, using sequencing coverage and ortholog counts to assign chromosomes and detect assembly errors.

Induction of X-chromosome Inactivation by the Histone Demethylase SMCX/KDM5C

This study shows that SMCX/KDM5C, a histone demethylase, is required for X-inactivation in female mammals by inducing Xist RNA and silencing X-linked genes.

The House Fly Y Chromosome is Young and Minimally Differentiated from its Ancient X Chromosome Partner

The paper investigates the House fly's sex chromosomes and finds minimal differentiation between X and Y, suggesting the Y was replaced by an X carrying a male-determining gene.

Sex chromosome evolution, heterochiasmy and physiological QTL in the salmonid Brook Charr Salvelinus fontinalis

This study identifies the sex chromosome in Brook Charr, characterizes heterochiasmy, and identifies QTL for growth, reproductive, and stress-related traits in salmonids.

Stepwise approach to oocyte depletion in Sry mutated XY female mice

This study investigates germ cell depletion in XY sex-reversed females by analyzing transcriptomes of primordial germ cells and oocytes, revealing developmental disruptions and gene expression changes.

Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X

The paper identifies a critical genomic region on chromosome 19 that protects the active X chromosome from XIST-mediated silencing, linking its disruption to embryonic female loss.

X-chromosome inactivation and its implications for human disease

This paper reviews the regulation of X-chromosome inactivation and its clinical implications for X-linked diseases in females.

Single Cell Expression Data Reveal Human Genes that Escape X-Chromosome Inactivation

The paper identifies human genes that escape X-chromosome inactivation using single-cell RNA-Seq and allelic expression analysis, finding 25-31 escapee genes with high confidence.