Search bioRxiv⌕ Search

bioRxiv · 10.1101/2023.11.08.566342

Two wild Spinacia species, S. turkestanica and S. tetrandra, genomes reveal a sex chromosome turnover in the genus

Abstract

Spinach (Spinacia oleracea) is a dioecious species (with male and female flowers on separate individuals). Spinach and its closest wild relative, S. turkestanica, has homomorphic sex chromosomes, but the more distant relative S. tetrandra has heteromorphic sex chromosomes. We report high-quality genome assemblies for S. turkestanica and S. tetrandra. These diverged approximately 6.3 million years ago (Mya), while S. turkestanica split from S. oleracea much more recently, around 0.8 Mya, supporting previous suggestions that S. turkestanica is the direct progenitor of cultivated spinach. Using a combination of genomic approaches, we identified a sex-linked region (SLR) of [~]133 Mb in S. tetrandra. In all three species, the SLRs are within a large pericentromeric region of chromosome 4. We describe evidence that, in S. tetrandra, this region has completely stopped recombining in male meiosis, creating a large Y-linked region (YLR) that has partially degenerated; loss of recombination appears to have evolved in two events that created two "evolutionary strata", one of which and is highly rearranged, relative to the X. The SLRs of S. turkestanica and S. oleracea are much smaller: both include only a 10 Mb Y-specific region which is not detected in S. tetrandra. This was duplicated into a 14 Mb inverted region, and is termed the Y-duplicated region, or "YDR". These findings suggest that a turnover event created the YDR before these species diverged, replacing an extensive ancestral Y-linked region like the S. tetrandra YLR.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

She, H., Liu, Z., Xu, Z., Zhang, H., Wu, J., Wang, X., Cheng, F., Charlesworth, D., Qian, W.. 2023-11-13. Two wild Spinacia species, S. turkestanica and S. tetrandra, genomes reveal a sex chromosome turnover in the genus. https://doi.org/10.1101/2023.11.08.566342

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Reconstruction of the Prox gene family evolution in vertebrates reveals multiple lineage-specific gene losses

Prospero-related homeobox (Prox) genes encode a family of transcription factors that play essential roles in the development of several organs and systems, including the central nervous system, lymphatic endothelium, musculature, and liver. Despite their developmental importance, the evolutionary history of the vertebrate Prox gene family remains poorly understood. In this study we combined phylogenetic and synteny analysis to characterise the evolution of the Prox family in vertebrates. Our results reveal that two to three Prox subfamilies were already present in the last common ancestor of jawed vertebrates. We clarify the identity and evolutionary relationships of well-studied members of this family and identify multiple independent losses of Prox2 and Prox3 genes in specific vertebrate lineages. Furthermore, we uncover evidence for the existence of a fourth Prox gene in the ancestral vertebrate genome, which was subsequently lost. Overall, this study provides the first comprehensive analysis of the evolutionary history of the vertebrate Prox gene family and establishes a foundations for future studies on the functional roles of these genes.

genomics↗

Gene flux shapes diversity and evolution of the ancient 17q21.31 inversion polymorphism

A hallmark of chromosomal inversions is that they suppress recombination between haplotypes, allowing inversion haplotypes to persist as single co-inherited units. To determine the extent to which inversions nevertheless permit genetic exchange, we investigated a common 979-kb inversion polymorphism at the human 17q21.31 locus. This locus exhibits deep divergence between the reference (H1) and inverted (H2) haplotypes, extensive segmental duplications (SDs) flanking the inversion, and association with neurodegenerative diseases, developmental disorders, and fertility-related phenotypes. Using single-cell sperm genome sequencing data, we directly measured recombination rates between H1 and H2 haplotypes and found near-complete suppression of single-crossover events between the haplotypes. The rare single crossovers that did occur were mediated by non-allelic homologous recombination between shared H1 and H2 SDs, generating novel duplication architectures. In contrast, two-switch events consistent with gene conversion or double crossovers, spanning 17-150 kb, occurred throughout the inversion at rates exceeding genome-wide estimates for events of comparable size. Consistent with recurring genetic exchange, we identified 99 distinct H1-H2 recombinant haplotypes segregating in All of Us genomes, including 26 with combinations of H1 and H2 SDs. These recombinant haplotypes facilitated dissection of the inversion's effects on fertility-related phenotypes; using a large parent-embryo dataset, we found that H2 additively increases female crossover rates across chromosomes and that KANSL1 duplications do not explain this effect. Finally, ancestral recombination graphs dated H1-H2 gene flux (the exchange of genetic material between alternative arrangements) to approximately 100-500 thousand years ago, revealing that H1 and H2 haplotypes have co-segregated for at least half a million years. Together, these results demonstrate that inversions can be permeable barriers to recombination, with ongoing gene flux influencing the diversity and evolution of inversion polymorphisms.

genomics↗

Genomic correlates of metastatic competence and progression in human melanoma

Genomic events and their timing that grant a primary tumour the competence to disseminate remain poorly defined. We performed sequencing of 247 stage I/II primary cutaneous melanomas (CMs) and 60 matched metastases without intervening therapy from a prospectively followed registry cohort with a median followup of 92 months, integrating copy-number, mutational, protein and spatial-transcriptomic analyses. Relapse was not distinguished by oncogenic point mutations, which were largely shared between primaries and metastases, but by somatic copy-number alterations (SCNAs) and global chromosomal instability. We defined OncoCycle, a six-gene copy-number signature (amplification of CDK4, MCL1 and CD276; biallelic loss of CDKN2A, CDKN2B and TP53BP1) that predicted relapse independently of established clinicopathological features in melanoma, and a pan-cancer analysis. In matched pairs, metastatic progression was driven by continued copy-number evolution and reduction in intra-tumoural heterogeneity, rather than by acquired point mutations, and OncoCycle alterations from primary tumours were preserved in metastasis seeding clones. Clonal reconstruction revealed both monoclonal and polyclonal metastasis seeding, and spatial transcriptomics resolved copy-number-defined metastatic subclones occupying and programming distinct immune and stromal niches. Thus, metastatic competence was primed early by focal SCNAs on a background of chromosomal instability, elaborated by continued copy-number evolution during dissemination and spatio-temporal interactions with the tumour-microenvironment.

genomics↗