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1. Gene-Level, but Not Chromosome-Wide, Divergence between a Very Young House Fly Proto-Y Chromosome and Its Homologous Proto-X Chromosome

   https://doi.org/10.1093/molbev/msaa250  

   Son, Jae Hak ; Meisel, Richard P ( September 2020 , Molecular Biology and Evolution)

   null (Ed.)

   Abstract X and Y chromosomes are usually derived from a pair of homologous autosomes, which then diverge from each other over time. Although Y-specific features have been characterized in sex chromosomes of various ages, the earliest stages of Y chromosome evolution remain elusive. In particular, we do not know whether early stages of Y chromosome evolution consist of changes to individual genes or happen via chromosome-scale divergence from the X. To address this question, we quantified divergence between young proto-X and proto-Y chromosomes in the house fly, Musca domestica. We compared proto-sex chromosome sequence and gene expression between genotypic (XY) and sex-reversed (XX) males. We find evidence for sequence divergence between genes on the proto-X and proto-Y, including five genes with mitochondrial functions. There is also an excess of genes with divergent expression between the proto-X and proto-Y, but the number of genes is small. This suggests that individual proto-Y genes, but not the entire proto-Y chromosome, have diverged from the proto-X. We identified one gene, encoding an axonemal dynein assembly factor (which functions in sperm motility), that has higher expression in XY males than XX males because of a disproportionate contribution of the proto-Y allele to gene expression. The upregulation of the proto-Y allele may be favored in males because of this gene’s function in spermatogenesis. The evolutionary divergence between proto-X and proto-Y copies of this gene, as well as the mitochondrial genes, is consistent with selection in males affecting the evolution of individual genes during early Y chromosome evolution. 

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2. Sex chromosome transformation and the origin of a male-specific X chromosome in the creeping vole

   https://doi.org/10.1126/science.abg7019  

   Couger, Matthew B. ; Roy, Scott W. ; Anderson, Noelle ; Gozashti, Landen ; Pirro, Stacy ; Millward, Lindsay S. ; Kim, Michelle ; Kilburn, Duncan ; Liu, Kelvin J. ; Wilson, Todd M. ; et al ( May 2021 , Science)

   The mammalian sex chromosome system (XX female/XY male) is ancient and highly conserved. The sex chromosome karyotype of the creeping vole (Microtus oregoni) represents a long-standing anomaly, with an X chromosome that is unpaired in females (X0) and exclusively maternally transmitted. We produced a highly contiguous male genome assembly, together with short-read genomes and transcriptomes for both sexes. We show thatM. oregonihas lost an independently segregating Y chromosome and that the male-specific sex chromosome is a second X chromosome that is largely homologous to the maternally transmitted X. Both maternally inherited and male-specific sex chromosomes carry fragments of the ancestral Y chromosome. Consequences of this recently transformed sex chromosome system include Y-like degeneration and gene amplification on the male-specific X, expression of ancestral Y-linked genes in females, and X inactivation of the male-specific chromosome in male somatic cells. The genome ofM. oregonielucidates the processes that shape the gene content and dosage of mammalian sex chromosomes and exemplifies a rare case of plasticity in an ancient sex chromosome system.

    

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3. Transposon wave remodeled the epigenomic landscape in the rapid evolution of X-Chromosome dosage compensation

   https://doi.org/10.1101/gr.278127.123  

   Metzger, David C.H. ; Porter, Imogen ; Mobley, Brendan ; Sandkam, Benjamin A. ; Fong, Lydia J.M. ; Anderson, Andrew P. ; Mank, Judith E. ( November 2023 , Genome Research)

   Sex chromosome dosage compensation is a model to understand the coordinated evolution of transcription; however, the advanced age of the sex chromosomes in model systems makes it difficult to study how the complex regulatory mechanisms underlying chromosome-wide dosage compensation can evolve. The sex chromosomes ofPoecilia pictahave undergone recent and rapid divergence, resulting in widespread gene loss on the male Y, coupled with complete X Chromosome dosage compensation, the first case reported in a fish. The recent de novo origin of dosage compensation presents a unique opportunity to understand the genetic and evolutionary basis of coordinated chromosomal gene regulation. By combining a new chromosome-level assembly ofP. pictawith whole-genome bisulfite sequencing and RNA-seq data, we determine that the YY1 transcription factor (YY1) DNA binding motif is associated with male-specific hypomethylated regions on the X, but not the autosomes. These YY1 motifs are the result of a recent and rapid repetitive element expansion on theP. pictaX Chromosome, which is absent in closely related species that lack dosage compensation. Taken together, our results present compelling support that a disruptive wave of repetitive element insertions carrying YY1 motifs resulted in the remodeling of the X Chromosome epigenomic landscape and the rapid de novo origin of a dosage compensation system.

    

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4. Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories

   https://doi.org/10.1016/j.stemcr.2019.09.011  

   D'Antonio-Chronowska, Agnieszka ; Donovan, Margaret K.R. ; Young Greenwald, William W. ; Nguyen, Jennifer Phuong ; Fujita, Kyohei ; Hashem, Sherin ; Matsui, Hiroko ; Soncin, Francesca ; Parast, Mana ; Ward, Michelle C. ; et al ( November 2019 , Stem Cell Reports)
5. The Evolution of Widespread Recombination Suppression on the Dwarf Hamster ( Phodopus ) X Chromosome

   https://doi.org/10.1093/gbe/evac080  

   Moore, Emily C. ; Thomas, Gregg W. ; Mortimer, Sebastian ; Kopania, Emily E. ; Hunnicutt, Kelsie E. ; Clare-Salzler, Zachary J. ; Larson, Erica L. ; Good, Jeffrey M. ( May 2022 , Genome Biology and Evolution)

   Mank, Judith (Ed.)

   Abstract The X chromosome of therian mammals shows strong conservation among distantly related species, limiting insights into the distinct selective processes that have shaped sex chromosome evolution. We constructed a chromosome-scale de novo genome assembly for the Siberian dwarf hamster (Phodopus sungorus), a species reported to show extensive recombination suppression across an entire arm of the X chromosome. Combining a physical genome assembly based on shotgun and long-range proximity ligation sequencing with a dense genetic map, we detected widespread suppression of female recombination across ∼65% of the Phodopus X chromosome. This region of suppressed recombination likely corresponds to the Xp arm, which has previously been shown to be highly heterochromatic. Using additional sequencing data from two closely related species (P. campbelli and P. roborovskii), we show that recombination suppression on Xp appears to be independent of major structural rearrangements. The suppressed Xp arm was enriched for several transposable element families and de-enriched for genes primarily expressed in placenta, but otherwise showed similar gene densities, expression patterns, and rates of molecular evolution when compared to the recombinant Xq arm. Phodopus Xp gene content and order was also broadly conserved relative to the more distantly related rat X chromosome. These data suggest that widespread suppression of recombination has likely evolved through the transient induction of facultative heterochromatin on the Phodopus Xp arm without major changes in chromosome structure or genetic content. Thus, substantial changes in the recombination landscape have so far had relatively subtle influences on patterns of X-linked molecular evolution in these species. 

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