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Freshwater Bivalves at the edge: Adaptation genomics under climate-change scenarios

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The crown pearl V2: an improved genome assembly of the European freshwater pearl mussel Margaritifera margaritifera (Linnaeus, 1758)
Publication . Gomes-dos-Santos, André; Lopes-Lima, Manuel; Machado, André M.; Forest, Thomas; Achaz, Guillaume; Teixeira, Amílcar; Prié, Vincent; Castro, L. Filipe C.; Froufe, Elsa
Contiguous assemblies are fundamental to deciphering the composition of extant genomes. In molluscs, this is considerably challenging owing to the large size of their genomes, heterozygosity, and widespread repetitive content. Consequently, long-read sequencing technologies are fundamental for high contiguity and quality. The first genome assembly of Margaritifera margaritifera (Linnaeus, 1758) (Mollusca: Bivalvia: Unionida), a culturally relevant, widespread, and highly threatened species of freshwater mussels, was recently generated. However, the resulting genome is highly fragmented since the assembly relied on short-read approaches. Here, an improved reference genome assembly was generated using a combination of PacBio CLR long reads and Illumina paired-end short reads. This genome assembly is 2.4 Gb long, organized into 1,700 scaffolds with a contig N50 length of 3.4 Mbp. The ab initio gene prediction resulted in 48,314 protein-coding genes. Our new assembly is a substantial improvement and an essential resource for studying this species’ unique biological and evolutionary features, helping promote its conservation.
Population-specific phenotypic plasticity of endangered bivalves in response to extreme events
Publication . Gomes-dos-Santos, André; Lopes-Lima, Manuel; Silva, Beatriz; Machado, André M.; Pinto, Rui; Österling, Martin; Wallerius, Magnus Lovén; Urbańska, Maria; Golski, Janusz; Runowski, Sławomir; Kaźmierczak, Sandra; Teixeira, Amilcar; Sousa, Ronaldo; Castro, L. Filipe C.; Castro, Paulo; Carvalho, Francisco; Fonseca, Elza; Froufe, Elsa
Freshwater mussels are among the most endangered animal groups, highly sensitive to climate change due to their strict dependence on freshwater habitats. While freshwater mussels are often considered ecologically strict, their distribution across broad environmental gradients raises the possibility of population-specific adaptations mediated by phenotypic plasticity. This study investigates whether geographically and climatically distinct populations of two freshwater mussel species (Unio pictorum and Unio delphinus) exhibit different transcriptomic responses to prolonged heat stress and whether these responses reveal signs of local adaptation. We exposed northern and southern populations of both species to gradually increasing temperatures in controlled laboratory conditions, simulating a prolonged thermal extreme event, and RNA-seq was used to quantify differential gene expression. Results showed strong differences between northern and southern populations of the two species, both in the magnitude and functional composition of transcriptomic responses. Southern populations exhibited intense expression shifts involving classical stress pathways, heat shock proteins, detoxification (cytochrome P450s), apoptosis, and energy metabolism, while northern populations, particularly U. delphinus, showed a markedly subdued response. Notably, U. pictorum's northern population relied heavily on the cytochrome P450 family even at moderate temperatures, while the southern populations of both species activated broader proteostasis and immune responses at higher stress thresholds. These findings demonstrate clear population-specific phenotypic plasticity, shaped by environmental conditions rather than phylogenetic proximity. They underscore the need for conservation strategies to move beyond species-level management, embracing intraspecific variation as a buffer against climate impacts. As climate change accelerates, safeguarding the evolutionary potential encoded within populations, not just species, is essential to preserving biodiversity resilience.
The gill transcriptome of threatened European freshwater mussels
Publication . Gomes-dos-Santos, André; Machado, André M.; Castro, L. Filipe C.; Prié, Vincent; Teixeira, Amílcar; Lopes-Lima, Manuel; Froufe, Elsa
Genomic tools applied to non-model organisms are critical to design successful conservation strategies of particularly threatened groups. Freshwater mussels of the Unionida order are among the most vulnerable taxa and yet almost no genetic resources are available. Here, we present the gill transcriptomes of five European freshwater mussels with high conservation concern: Margaritifera margaritifera, Unio crassus, Unio pictorum, Unio mancus and Unio delphinus. The final assemblies, with N50 values ranging from 1069–1895 bp and total BUSCO scores above 90% (Eukaryote and Metazoan databases), were structurally and functionally annotated, and made available. The transcriptomes here produced represent a valuable resource for future studies on these species’ biology and ultimately guide their conservation.
The silent extinction of freshwater mussels in Portugal
Publication . Lopes-Lima, Manuel; Reis, Joaquim; Alvarez, Maria G.; Anastácio, Pedro M.; Banha, Filipe; Beja, Pedro; Castro, Paulo S.; Gama, Mafalda; Gil, Maria G.; Gomes-dos-Santos, André; Miranda, Fernando Jorge Veloso; Nogueira, Joana Garrido; Sousa, Ronaldo; Teixeira, Amílcar; Varandas, Simone; Froufe, Elsa
Freshwater mussels are one of the most threatened animal groups in the world. In the European Union, threatened and protected mussel species are not adequately monitored, while species considered to be common and widespread receive even less attention. This is particularly worrying in the Mediterranean region, where species endemism is high and freshwater habitats are severely affected by water scarcity. In the absence of hard data on population trends, we report here a long-term comparison of freshwater mussel assemblages at 132 sites covering 15 different hydrological basins in Portugal. This study reveals a widespread decline of 60 % in the number of sites and 67 % in the overall abundance of freshwater mussels across Portugal over the last 20 years, indicating that all species are rapidly declining and threatened with extinction. These results show that current legislation and conservation measures are largely ineffective and highlight the importance of updating the Habitats Directive to enforce standard monitoring protocols for threatened species in the European Union and to extend monitoring to other freshwater species thought to be common and widespread. Efficient water management, restrictions on irrigation expansion in important biodiversity areas, mitigation of hydrological changes and loss of aquatic habitat connectivity caused by physical alterations are urgently needed to reverse these declining population trends. For the severely endangered species Margaritifera margaritifera, Potomida littoralis, and Unio tumidiformis, where populations are now critically low, more urgent action is needed, such as ex-situ conservation, protection of remaining populations and large-scale habitat restoration.

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Entidade financiadora

Fundação para a Ciência e a Tecnologia

Programa de financiamento

Concurso para Financiamento de Projetos de Investigação Científica e Desenvolvimento Tecnológico em Todos os Domínios Científicos - 2020

Número da atribuição

PTDC/CTA-AMB/3065/2020

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