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Rives, N.

Publications and source records attributed to Rives, N..

3 recordsLinked to original sources

Transposable Elements Facilitate the De Novo Origin of Antifreeze Protein and the Diversification of Its Gene Family in Snailfishes

Transposable elements (TEs) are increasingly recognized as important sources of genomic innovation, yet mechanistically resolved examples of how they help generate new functional genes in vertebrates remain rare. Type I antifreeze proteins (AFPI) in fishes are life-saving adaptations shaped by strong freezing selection and provide an exceptional system for studying new gene evolution under extreme environmental pressure. We recently showed that AFPI in flounder, cunner, and sculpin evolved independently through distinct partial de novo routes, converging on a nearly identical alanine-rich antifreeze protein. Here, we elucidate the origin and evolution of AFPI in the last remaining unresolved lineage, snailfishes, using a chromosome-scale genome assembly for Liparis atlanticus together with multi-tissue Iso-Seq, tissue-specific RNA-seq, and comparative genomics across AFPI-bearing and AFPI-lacking snailfishes and teleost outgroups. We show that snailfish AFPI originated within Liparis and rapidly diversified as a young gene family with multiple isoforms and lineage- and population-specific copy-number change. Genome-wide homology searches support a de novo origin of the alanine-rich coding region from noncoding sequence rather than from a pre-existing protein-coding precursor. In contrast, the surrounding regulatory architecture was assembled through sequence recruitment: a hAT-derived fragment contributes promoter- and transcription-start-site-proximal sequence, and a conserved noncoding segment together with a Ty3/Gypsy-derived long terminal repeat (LTR) contributes the 3' regulatory region. TE-rich locus structure also provides plausible mechanisms for subsequent locus expansion and translocation. Together, these results reveal a TE-facilitated, mosaic route to new gene evolution in vertebrates, demonstrating how noncoding DNA, repetitive sequence, and TE-derived regulatory fragments can be assembled into a strongly selected adaptive innovation. Author SummaryWhere do new genes with brand-new functions come from? We tackled this question using one of evolutions clearest natural experiments: antifreeze proteins, life-saving molecules favored by selection because fish without them freeze in icy seawater. In this study, we show that mobile DNA called transposable elements helped build a new antifreeze gene in stages. Different transposable elements appear to have played different roles: one helped switch on a previously silent stretch of noncoding DNA, others contributed control sequences at the beginning and end of the gene, and repeat-rich DNA around the locus likely promoted gene duplication, movement to a new chromosomal location, and rapid diversification into a gene family. This is an unusually clear vertebrate example of how a new gene can emerge not in a single leap, but through stepwise assembly from different pieces of the genome. More broadly, our work shows that transposable elements do much more than disrupt genomes. Under strong natural selection, they can help turn noncoding DNA into a life-saving adaptation and then help that innovation expand and diversify.

genetics↗

Diverse origins of near-identical antifreeze proteins in unrelated fish lineages provide insights into evolutionary mechanisms of new gene birth and protein sequence convergence

Determining the origins of novel genes and the genetic mechanisms underlying the emergence of new functions is challenging yet crucial for understanding evolutionary innovations. The convergently evolved fish antifreeze proteins provide excellent opportunities to investigate evolutionary origins and pathways of new genes. Particularly notable is the near-identical type I antifreeze proteins (AFPI) in four phylogenetically divergent fish taxa. This study tested the hypothesis of protein sequence convergence beyond functional convergence in three unrelated AFPI-bearing fish lineages, revealing different paths by which a similar protein arose from diverse genomic resources. Comprehensive comparative analyses of de novo sequenced genome of the winter flounder and grubby sculpin, available high-quality genome of the cunner and 14 other relevant species found that the near-identical AFPI originated from a distinct genetic precursor in each lineage. Each independently evolved a coding region for the novel ice-binding protein while retaining sequence identity in the regulatory regions with their respective ancestor. The deduced evolutionary processes and molecular mechanisms are consistent with the Innovation-Amplification-Divergence (IAD) model applicable to AFPI formation in all three lineages, a new Duplication-Degeneration-Divergence (DDD) model we propose for the sculpin lineage, and a DDD model with gene fission for the cunner lineage. This investigation illustrates the multiple ways by which a novel functional gene with sequence convergence at the protein level could evolve across divergent species, advancing our understanding of the mechanistic intricacies in new gene formation.

evolutionary biology↗

Steroidogenesis and androgen/estrogen signaling pathways are altered in in vitro matured testicular tissues of prepubertal mice

Children undergoing cancer treatments are at risk for impaired fertility. Cryopreserved prepubertal testicular biopsies could theoretically be later matured in vitro to produce spermatozoa for assisted reproductive technology. A complete in vitro spermatogenesis has been obtained from mouse prepubertal testicular tissue, although with low efficiency. Steroid hormones being essential for the progression of spermatogenesis, the aim of this study was to investigate steroidogenesis and steroid signaling in organotypic cultures. Histological, RT-qPCR, western blot analyses and steroid hormone measurements were performed on in vitro cultured mouse prepubertal testicular tissues and age-matched in vivo controls. Despite a conserved density of Leydig cells after 30 days of culture (D30), transcript levels of adult Leydig cell and steroidogenic markers were decreased. Increased amounts of progesterone and estradiol and reduced androstenedione levels were observed at D30, together with decreased transcript levels of steroid metabolizing genes and steroid target genes. hCG was insufficient to facilitate Leydig cell differentiation, restore steroidogenesis and improve sperm yield. In conclusion, this study reports the failure of adult Leydig cell development and altered steroid production and signaling in tissue cultures. The organotypic culture system will need to be further improved before it can be translated in clinics for childhood cancer survivors.

developmental biology↗