Anthony, K. | bioRxiv Science

bioRxiv2024

Mitochondrial DNA mutations in human oocytes undergo frequency-dependent selection but do not increase with age

Mitochondria, cellular powerhouses, harbor DNA (mtDNA) inherited from the mothers. MtDNA mutations can cause diseases, yet whether they increase with age in human germline cells--oocytes--remains understudied. Here, using highly accurate duplex sequencing of full-length mtDNA, we detected de novo mutations in single oocytes, blood, and saliva in women between 20 and 42 years of age. We found that, with age, mutations increased in blood and saliva but not in oocytes. In oocytes, mutations with high allele frequencies ([≥]1%) were less prevalent in coding than non-coding regions, whereas mutations with low allele frequencies (<1%) were more uniformly distributed along mtDNA, suggesting frequency-dependent purifying selection. In somatic tissues, mutations caused elevated amino acid changes in protein-coding regions, suggesting positive or destructive selection. Thus, mtDNA in human oocytes is protected against accumulation of mutations having functional consequences and with aging. These findings are particularly timely as humans tend to reproduce later in life. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=200 SRC="FIGDIR/small/627454v1_ufig1.gif" ALT="Figure 1"> View larger version (40K): org.highwire.dtl.DTLVardef@18242f6org.highwire.dtl.DTLVardef@fa5a97org.highwire.dtl.DTLVardef@51a452org.highwire.dtl.DTLVardef@1fb2374_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗

bioRxiv2024

Reproducing within-reef variability in coral dynamics with a metacommunity modelling framework

Reef systems span spatial scales from 10s to 100s and even 1000s of kilometres, with substantial spatial variability across these scales. Managing and predicting the future of coral reefs requires insights into reef functioning at all spatial scales. However, investigations of reef functioning often consider individual reefs as the smallest unit (10s of kilometres), despite substantial spatiotemporal variability occurring within-reefs (100s of meters). We developed C[~]scape, a coral metacommunity modelling framework that integrates the demography of corals with population-level responses to physical and environmental spatial layers, to simulate a mosaic of interacting coral communities across a heterogenous seascape. Coral communities are linked using biophysical connectivity modelling. Coral community growth is modelled with a logistic growth model, with the intrinsic growth parameter determined from taxa-specific Integral Projection Models to incorporate demographic mechanisms. Site-specific coral habitat parameters, derived from satellite-based geomorphic and benthic habitat maps, define the maximum coral cover and are used to modulate community growth spatially and temporally as a function of the available space suitable for corals. These parameters are a proxy for the many interacting physical and environmental factors -- e.g., depth, light, wave exposure, temperature, and substrate type -- that drive within-reef variability in coral demography. Using a case study from the Great Barrier Reef, we show that modulating community growth using site-specific habitat parameters enables more accurate hindcasts of coral cover dynamics, while overlooking within-reef variability may lead to misleading conclusions about metacommunity dynamics. More generally, C[~]scape provides a valuable framework for predicting spatiotemporal dynamics of coral communities within and between reefs, offering a mechanistic approach to test a range of management and restoration options.

ecology↗