Dr. Christine Grossen

Inzucht kann zu Inzuchteffekten führen. Viele denken dabei an Missbildungen, wie sie bei Haustieren vorkommen können; oder an Bilder von Luchsen mit verkümmerten Ohren, die mit möglicher Inzucht in Verbindung gebracht wurden. Bei Bartgeiern gibt es den Verdacht, dass ein Federdefekt durch Inzucht verursacht wird. Hinter Inzuchteffekten stecken schädliche Mutationen, sogenannte Gendefekte. Alle Organismen tragen schädliche Mutationen in sich. Jeder Mensch trägt mehrere Mutationen im Erbgut, die zu schweren Deformationen oder tödlichen Krankheiten führen könnten. Doch was genau sind schädliche Mutationen und warum stellen sie vor allem bei Inzucht ein Problem dar? Welche Rolle spielen schädliche Mutationen für den Artenschutz?

La consanguinité peut avoir des effets graves. On pense généralement à des malformations telles qu’on peut les observer chez certains animaux domestiques ou à ces Lynx aux oreilles atrophiées dont les photos ont circulé il y a quelque temps. On soupçonne aussi la consanguinité d’être à l’origine de défauts dans le plumage du Gypaète barbu. Ces effets dits de consanguinité sont dus à des mutations délétères, ou défauts génétiques. Tous les organismes sont porteurs de mutations délétères. Tout être humain porte dans son patrimoine génétique plusieurs mutations qui sont susceptibles d’entraîner de graves malformations ou des maladies mortelles. Mais en quoi consistent exactement ces mutations délétères et pourquoi posent-elles particulièrement problème en cas de consanguinité? Quel rôle jouent les mutations délétères dans la conservation des espèces?

Improving the understanding of the causes and effects of anthropogenic hybridization is fundamental to ensure species conservation, particularly in the case of hybridization between wild species and their domestic relatives. Knowledge is missing for many species also because of a lack of appropriate tools for hybrid identification. Here, coupling genotype and phenotype analysis, we carried out an extensive investigation of ongoing hybridization in Alpine ibex Capra ibex, a mountain ungulate of conservation concern from a genetic perspective. By genotyping 63 diagnostic and 465 neutral SNPs, 20 suspected hybrids and 126 Alpine ibex without suspicious phenotype, representing 8 populations across a major part of the species distribution, we found evidence for ongoing hybridization between Alpine ibex and domestic goat. We identified different levels of hybridization including backcrosses into both Alpine ibex and domestic goat. Our results suggest a lack of reproductive barriers between the two species and good survival and reproductive success of the hybrids. Hybridization was locally intense, like a hybrid swarm, but not spread across the rest of the species distribution. Most of the hybrids were discovered in two locations in the north-west of Italy, while random sampling of individuals from different areas did not provide evidence of recent hybridization. Our method, based on amplicon sequencing of 63 diagnostic SNPs specifically developed for this purpose, allowed us to identify hybrids and backcrosses up to the fourth to fifth generations and was suitable for genetic samples of different quality, although with varying levels of certainty regarding the exact number of generations passed since hybridization. Based on the paired analysis of genotype and phenotype, we provide guidelines for the first identification of hybrids in the field and suggest a procedure for the reliable identification of hybrids.

Effective population size (Ne) is one of the most important parameters in evolutionary biology, as it is linked to the long-term survival capability of species. Therefore, Ne greatly interests conservation geneticists, but it is also very relevant to policymakers, managers, and conservation practitioners. Molecular methods to estimate Ne rely on various assumptions, including no immigration, panmixia, random sampling, absence of spatial genetic structure, and/or mutation-drift equilibrium. Species are, however, often characterized by fragmented populations under changing environmental conditions and anthropogenic pressure. Therefore, the estimation methods' assumptions are seldom addressed and rarely met, possibly leading to biased and inaccurate Ne estimates. To address the challenges associated with estimating Ne for conservation purposes, the COST Action 18134, Genomic Biodiversity Knowledge for Resilient Ecosystems (G-BiKE), organized an international workshop that met in August 2022 in Brașov, Romania. The overarching goal was to operationalize the current knowledge of Ne estimation methods for conservation practitioners and decision-makers. We set out to identify datasets to evaluate the sensitivity of Ne estimation methods to violations of underlying assumptions and to develop data analysis strategies that addressed pressing issues in biodiversity monitoring and conservation. Referring to a comprehensive body of scientific work on Ne, this meeting report is not intended to be exhaustive but rather to present approaches, workshop findings, and a collection of papers that serve as fruits of those efforts. We aimed to provide insights and opportunities to help bridge the gap between scientific research and conservation practice.

We tend to assume that all genetic variation is good: the higher the variation in a population, the more diverse its gene pool, the more secure its future. Unfortunately, the relationship between genetic variation and survival of a population or a species is more complex. Some genetic variants are advantageous, increasing the survival and reproductive output of an individual, while others may be neutral now (but potentially advantageous in the future), and finally, some genetic variants are disadvantageous. All organisms carry a burden of disadvantageous genetic variants, called ‘genetic load’. This genetic load can lead to diseases or morphological abnormalities and reduce survival or reproduction. Although genetic load has been studied for decades, recent technological advances now enable a more detailed understanding of its characteristics and potential consequences in wild species.

Hybridization can result in the transfer of adaptive genetic material from one species to another, known as adaptive introgression. Bottlenecked (and hence genetically depleted) species are expected to be particularly receptive to adaptive introgression, since introgression can introduce new or previously lost adaptive genetic variation. The Alpine ibex (Capra ibex), which recently recovered from near extinction, is known to hybridize with the domestic goat (Capra aegagrus hircus), and signals of introgression previously found at the major histocompatibility complex were suggested to potentially be adaptive. Here, we combine two ancient whole genomes of Alpine ibex with 29 modern Alpine ibex genomes and 31 genomes representing six related Capra species to investigate the genome-wide patterns of introgression and confirm the potential relevance of immune loci. We identified low rates of admixture in modern Alpine ibex through various F statistics and screening for putative introgressed tracts. Further results based on demographic modelling were consistent with introgression to have occurred during the last 300 years, coinciding with the known species bottleneck, and that in each generation, 1–2 out of 100 Alpine ibex had a domestic goat parent. The putatively introgressed haplotypes were enriched at immune-related genes, where the adaptive value of alternative alleles may give individuals with otherwise depleted genetic diversity a selective advantage. While interbreeding with domestic species is a prevalent issue in species conservation, in this specific case, it resulted in putative adaptive introgression. Our findings highlight the complex interplay between hybridization, adaptive evolution, and the potential risks and benefits associated with anthropogenic influences on wild species.

Our ability to assess the threat posed by the genetic load to small and declining populations has been greatly improved by advances in genome sequencing and computational approaches. Yet, considerable confusion remains around the definitions of the genetic load and its dynamics, and how they impact individual fitness and population viability. We illustrate how both selective purging and drift affect the distribution of deleterious mutations during population size decline and recovery. We show how this impacts the composition of the genetic load, and how this affects the extinction risk and recovery potential of populations. We propose a framework to examine load dynamics and advocate for the introduction of load estimates in the management of endangered populations.

Background: The Aldabra giant tortoise (Aldabrachelys gigantea) is one of only two giant tortoise species left in the world. The species is endemic to Aldabra Atoll in Seychelles and is listed as Vulnerable on the International Union for Conservation of Nature Red List (v2.3) due to its limited distribution and threats posed by climate change. Genomic resources for A. gigantea are lacking, hampering conservation efforts for both wild and ex situ populations. A high-quality genome would also open avenues to investigate the genetic basis of the species' exceptionally long life span. Findings: We produced the first chromosome-level de novo genome assembly of A. gigantea using PacBio High-Fidelity sequencing and high-throughput chromosome conformation capture. We produced a 2.37-Gbp assembly with a scaffold N50 of 148.6 Mbp and a resolution into 26 chromosomes. RNA sequencing-assisted gene model prediction identified 23,953 protein-coding genes and 1.1 Gbp of repetitive sequences. Synteny analyses among turtle genomes revealed high levels of chromosomal collinearity even among distantly related taxa. To assess the utility of the high-quality assembly for species conservation, we performed a low-coverage resequencing of 30 individuals from wild populations and two zoo individuals. Our genome-wide population structure analyses detected genetic population structure in the wild and identified the most likely origin of the zoo-housed individuals. We further identified putatively deleterious mutations to be monitored. Conclusions: We establish a high-quality chromosome-level reference genome for A. gigantea and one of the most complete turtle genomes available. We show that low-coverage whole-genome resequencing, for which alignment to the reference genome is a necessity, is a powerful tool to assess the population structure of the wild population and reveal the geographic origins of ex situ individuals relevant for genetic diversity management and rewilding efforts.