'Lose-to-gain' adaptation to genome decay in the structure of the smallest eukaryotic ribosomes

The evolution of microbial parasites involves the interplay of two opposing forces. On the one hand, the pressure to survive drives parasites to improve through Darwinian natural selection. On the other, frequent genetic drifts result in genome decay, an evolutionary process in which an ever-increasing burden of deleterious mutations leads to gene loss and gradual genome reduction. Here, seeking to understand how this interplay occurs at the scale of individual macromolecules, we describe cryo-EM and evolutionary analyses of ribosomes from Encephalitozoon cuniculi, a eukaryote with one of the most reduced genomes in nature. We show that E. cuniculi ribosomes, the smallest eukaryotic cytoplasmic ribosomes to be structurally characterized, employ unparalleled structural innovations that allow extreme rRNA reduction without loss of ribosome integrity. These innovations include the evolution of previously unknown rRNA features such as molten rRNA linkers and bulgeless rRNA. Furthermore, we show that E. cuniculi ribosomes withstand the loss of rRNA and protein segments by evolving a unique ability to effectively trap small molecules and use them as ribosomal building-blocks and structural mimics of degenerated rRNA and protein segments. Overall, our work reveals a recurrent evolutionary pattern, which we term 'lose-to-gain' evolution, where it is only through the loss of rRNA and protein segments that E. cuniculi ribosomes evolve their major innovations. Our study shows that the molecular structures of intracellular parasites long viewed as reduced, degenerated, and suffering from various debilitating mutations instead possess an array of systematically overlooked and extraordinary structural features. These features allow them to not only adapt to molecular reduction but evolve new activities that parasites can possibly use to their advantage.

Genetic diversity in seedling populations of Dipterocarpus gracilis in Kecubung Ulolanang Nature Conservation Reserve, Indonesia

Romadini NP, Indrioko S, Widiyatno, Faridah E, Ratnaningrum YWN. 2021. Genetic diversity in seedling populations of Dipterocarpus gracilis in Kecubung Ulolanang Nature Conservation Reserve, Indonesia. Biodiversitas 22: 1138-1145. Dipterocarpus gracilis Blume is one of the native Dipterocarpus species in Java Island, Indonesia. It has commercial value as timber (wood) and non-timber forest products (oleoresin). This species has been considered vulnerable following the Red List of Threatened Species criteria by The International Union for Conservation of Nature (IUCN). We aimed to study the genetic diversity and genetic structure of seedlings as the natural regenerating population of Dipterocarpus gracilis Blume in The Kecubung Ulolanang Nature Conservation Reserve, Batang District, Central Java Province, Indonesia. The D. gracilis population in this area is distributed in four zones. We observed a total of 137 juvenile seedlings representing all the zones. Isozyme markers detected the genetic diversity of D. gracilis by peroxidase (PRX), esterase (EST), and acid phosphatase (ACP) enzymes. The mean observed heterozygosity of all the zones was lower (HO=0.078) than expected heterozygosity (HE=0.203). Genetic depletion occurred because of genetic drifts and founder effects due to low parental diversity. The genetic structure of seedlings is similar to the consequence of inbreeding. We conclude that the genetic diversity of D. gracilis decreases when mature trees are reduced. This population has essential values ​​in Java Island and should be a priority evaluation in the in-situ and ex-situ conservation of genetic resources.

Genetic diversity of maize landraces from the South-West of France

From the 17th century until the arrival of hybrids in 1960s, maize landraces were cultivated in the South-West of France (SWF), a traditional region for maize cultivation. A set of landraces were collected in this area between the 1950s and 1980s and were then conserved ex situ in a germplam collection. Previous studies using molecular markers on approx. twenty landraces from this region suggested that they belonged to a Pyrenees-Galicia Flint genetic group and originated from hybridizations between Caribbean and Northern Flint germplasms introduced to Europe. In this study, we assessed the structure and genetic diversity of 194 SWF maize landraces to better elucidate their origin, using a 50K SNP array and a bulk DNA approach. We identified two weakly differentiated genetic groups, one in the Western part and the other in the Eastern part of the studied region. We highlighted the existence of a longitudinal gradient along the SWF area that was probably maintained through the interplay between genetic drifts and restricted gene flows. The contact zone between the two groups observed near the Garonne valley may be the result of these evolutionnary forces. We found in landraces from the East part of the region significant cases of admixture between landraces from the Northern Flint group and landraces from either the Caribbean, Andean or Italian groups. We then assumed that SWF landraces had a multiple origin with a predonderance of Northern Flint germplasm for the two SWF groups, notably for the East part.

Are current avian influenza vaccines a solution for smallholder poultry farmers?

Vaccination against highly pathogenic avian influenza (HPAI) viruses, along with other measures, was successful in eradicating AI in very few countries where the competence of national veterinary services or the geography and bird density have contributed favorably to the outcome. The main constraints to an effective AI vaccination are vaccine composition matching field strains, reliable cold chain and logistics to target all poultry smallholders, constraints related to the availability of sufficient financial and human resources. When not conducted properly, vaccination can also contribute to the emergence of new field viral strains, through genetic drifts of HPAI viruses. While new technologies have improved the possibility to produce high quality vaccines matching field strains, recurrent issues like post-vaccination field surveillance and vaccination coverage continue to limit the relevance of AI vaccination in smallholder settings. A “game-changer” vaccine targeting smallholders should be universal to protect against all field viral strains and reduce significantly, if not totally eliminate, the need for costly post-vaccination surveillance. The ease of administration of this vaccine (eye drop or one single injection) would further contribute to its relevance in the field. These characteristics are considered essential for the product profile of an AI vaccine that can contribute in a meaningful way to the livelihoods of poultry smallholders.

Genetic diversity of maize landraces from the South-West of France

From the 17th century until the arrival of hybrids in 1960s, maize landraces were cultivated in the South-West of France, a traditional region for maize cultivation. A set of landraces were collected in this region between the 1950s and 1980s and were then conserved ex situ in a germplam collection. Previous studies using molecular markers on approx. twenty landraces fo this region showed that they belonged to a Pyrenees-Galicia Flint genetic group and originated from hybridization between Caribbean and Northern Flint germplasms introduced in Europe. In this study, we assessed the structure and genetic diversity of 194 SWF maize landraces to elucidate their origin, using a 50K SNP array and a bulk DNA approach. We identified two weakly differentiated genetic groups, one in the Western part and the other in the Eastern part. We highlighted the existence of a longitudinal gradient along the SWF area that was probably maintained through the interplay between genetic drifts and restricted gene flows, rather than through differential climatic adaptation. The contact zone between the two groups observed near the Garonne valley may be the result of these evolutionnary forces. We found only few significant cases of hybridization between Caribbean and Northern Flint germplasms in the region. We also found gene flows from various maize genetic groups to SWF landraces. Thus, we assumed that SWF landraces had a multiple origin with a slightly higher influence of Tropical germplasm in the West and preponderance of Northern Flint germplasm in the East.

Gene flow and selection evidence of sandalwood (Santalum album) under various population structures in Gunung Sewu (Java, Indonesia), and its effects on genetic differentiation

Ratnaningrum YWN, Indrioko S, Faridah E, Syahbudin A. 2017. Gene flow and selection evidence of sandalwood (Santalum album) under various population structures in Gunung Sewu (Java, Indonesia), and its effects on genetic differentiation. Biodiversitas 18: 1493-1505. Field observations on population structures and isoenzyme analysis were conducted to determine gene flow and selection evidence of sandalwood under various population structures in Gunung Sewu, and its effects on genetic differentiation. Sandalwood (Santalum album Linn., Santalaceae) is origin to the south-eastern islands but recently emerged as new landraces in Java Island, Indonesia. Results suggested that (i) natural barriers contributed to habitat fragmentation and disrupted gene flow among populations; (ii) gene flow affected selection processes regarding bottleneck effects and genetic drifts, which determined allelic richness and population diversity; and (iii) variation on gene flow and selection processes affected genetic differentiation among populations. Gene flow restriction and genetic drift occurred when population had lower genetic base, highly clonalized, fragmented, and/or more inbreeding in mating. Genetic differentiation was highest between populations within Timor island, and between Gunung Sewu (Java Island) and Sumba-Timor islands. Populations were not clustered based on geographical sites, but more by the similarity of genetic structures. Genetic differentiations were the combined effect of the differences on genetical processes regarding gene flow and selection events. Both differences existed due to differences on (i) population structures including landscape, clonality and parental genetic composition, and (ii) the disturbance histories of population, which affected the equilibrium between gene flow and drift. These findings emphasized the importance of larger gene flow and genetic base to naturally maintain genetical processes of sandalwood population under various landscapes structures.

The effects of population size on genetic parameters and mating system of sandalwood in Gunung Sewu, Indonesia

We combined feld observations with isoenzyme analysis to compare population demographic and its effects on genetic diversity and mating systems, among six populations of sandalwood in Gunung Sewu, Indonesia, during March to August 2015. This endangered economic-important species was originated from the southeastern parts of Indonesia, but is recently occured as new landraces in Gunung Sewu, Java island. The observed heterozygosity varied from Ho 0.184 to 0.385 in parents, and from Ho 0.083 to 0.348 in offspring levels, based on the degree of clonality and genetic base. Most of genetic variation is distributed within populations, and only 2.7% were presented among populations, that was indicated by the low DST and FST value (HT 0.30; HS 0.276; DST 2.4%; FST 7.98%). A dendrogram indicated a grouping of populations into three clusters. However, there were seemed to be no association between geographical and genetic distance. Genetic depletion occured due to (i) clonality events as result of heavy-exploitation and/or natural disturbance which induced root suckering, (ii) genetic drifts and bottleneck effects, (iii) the founder effects due to parental low diversity, and (iv) the alteration on mating systems to be more inbreeders. Some of the results confrmed a “reproductive assurance prediction” while some others were contradicting this. It seemed that genetic diversity and mating systems are not much affected by population size, but more by the parental heterozygosity and the degree of clonality. Our results emphasized the importance of populations’ genetic base or parental genetic diversity to naturally maintain the genetic and evolutionary processes under equilibrium conditions.

Genetic variability in a frozen batch of MCF-7 cells invisible in routine authentication affecting cell function

Common recommendations for cell line authentication, annotation and quality control fall short addressing genetic heterogeneity. Within the Human Toxome Project, we demonstrate that there can be marked cellular and phenotypic heterogeneity in a single batch of the human breast adenocarcinoma cell line MCF-7 obtained directly from a cell bank that are invisible with the usual cell authentication by short tandem repeat (STR) markers. STR profiling just fulfills the purpose of authentication testing, which is to detect significant cross-contamination and cell line misidentification. Heterogeneity needs to be examined using additional methods. This heterogeneity can have serious consequences for reproducibility of experiments as shown by morphology, estrogenic growth dose-response, whole genome gene expression and untargeted mass-spectroscopy metabolomics for MCF-7 cells. Using Comparative Genomic Hybridization (CGH), differences were traced back to genetic heterogeneity already in the cells from the original frozen vials from the same ATCC lot, however, STR markers did not differ from ATCC reference for any sample. These findings underscore the need for additional quality assurance in Good Cell Culture Practice and cell characterization, especially using other methods such as CGH to reveal possible genomic heterogeneity and genetic drifts within cell lines.

Effective population size of current human population

SummaryIn order to estimate the effective population size (Ne) of the current human population, two new approaches, which were derived from previous methods, were used in this study. One is based on the deviation from linkage equilibrium (LE) between completely unlinked loci in different chromosomes and another is based on the deviation from the Hardy–Weinberg Equilibrium (HWE). When random mating in a population is assumed, genetic drifts in population naturally induce linkage disequilibrium (LD) between chromosomes and the deviation from HWE. The latter provides information on the Ne of the current population, and the former provides the same when the Ne is constant. If Ne fluctuates, recent Ne changes are reflected in the estimates based on LE, and the comparison between two estimates can provide information regarding recent changes of Ne. Using HapMap Phase III data, the estimates were varied from 622 to 10 437, depending on populations and estimates. The Ne appeared to fluctuate as it provided different estimates for each of the two methods. These Ne estimates were found to agree approximately with the overall increment observed in recent human populations.