Determining population structure among Argentinian jaguars (Panthera onca)

The jaguar (Panthera onca) is the largest felid in America and the most emblematic South American predator. This carnivore species holds a high environmental importance in all ecosystems it inhabits for its apex predator role. Jaguar populations have suffered an important decline over the last century and today this species is considered as critically endangered in Argentina. Ensuring the sustainability of theremaining jaguar populations demands a high degree of knowledge about the current state of their genetic variability levels and a description of population structure is essential, especially to allow rational translocation and reintroduction actions. The first jaguar reference genome was released in2017 (Figueiro et al. 2017) by the Jaguar Genome Project, a consortium we integrate.With the aim of generating useful resources and information for the jaguar genetics and conservation from the genomic perspective, we carried out the whole genome sequencing of 9 jaguar samples using Illumina 2500 NSG technology. Here we present the first results obtained from these 9 genomescompared to the reference. We performed a population structure analysis in order to estimate the optimal number of populations present in our data and a Multiple Correspondece Analysis (MCA) clustering of our samples based on over 280.000 homozygous variable positions in their genomes. Theestimation of the optimal number of populations present among our samples resulted in 6, according to the Structure analysis. However, the MCA clustering analysis only revealed 5 groups of individuals. The main genetic cluster of animal obtained is integrated by captive animals from zoos and natural reserves and surprisingly a Paraguayan male. Apart from this central group, a wild Argentinian sample from Misiones (a province in the north-east of the country) was located. Also, an animal of Uruguayan origin and the reference, built from a Brazilian animal, located in individual clusters.More work including heterozygous variable position analysis will be performed to better describe the genetic variability among the sequenced jaguar genomes and accurately describe the current genetic situation and population structure of this species in Argentinian territory.Fil: Pisciottano, Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; ArgentinaFil: Tarifa Reischle, Inti Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; ArgentinaFil: Pegueroles Queralt, Cinta. Centro de Regulación Genómica; España. Universitat Pompeu Fabra; EspañaFil: Willis, Jesse R.. Centro de Regulación Genómica; EspañaFil: Julca Chavez, Irene Consuelo. Centro de Regulación Genómica; España. Universitat Pompeu Fabra; EspañaFil: Gabaldón, Toni. Centro de Regulación Genómica; España. Institució Catalana de Recerca i Estudis Avançats ; EspañaFil: Saragueta, Patricia Esther. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; ArgentinaExploring Genomic Landscapes EMBO WorkshopSan Pedro de AtacamaChileEMBOCenter for Genomic Regulatio

Analysis of the P. lividus sea urchin genome highlights contrasting trends of genomic and regulatory evolution in deuterostomes

Sea urchins are emblematic models in developmental biology and display several characteristics that set them apart from other deuterostomes. To uncover the genomic cues that may underlie these specificities, we generated a chromosome-scale genome assembly for the sea urchin Paracentrotus lividus and an extensive gene expression and epigenetic profiles of its embryonic development. We found that, unlike vertebrates, sea urchins retained ancestral chromosomal linkages but underwent very fast intrachromosomal gene order mixing. We identified a burst of gene duplication in the echinoid lineage and showed that some of these expanded genes have been recruited in novel structures (water vascular system, Aristotle's lantern, and skeletogenic micromere lineage). Finally, we identified gene-regulatory modules conserved between sea urchins and chordates. Our results suggest that gene-regulatory networks controlling development can be conserved despite extensive gene order rearrangement

How genomics can help biodiversity conservation

The availability of public genomic resources can greatly assist biodiversity assessment, conservation, and restoration efforts by providing evidence for scientifically informed management decisions. Here we survey the main approaches and applications in biodiversity and conservation genomics, considering practical factors, such as cost, time, prerequisite skills, and current shortcomings of applications. Most approaches perform best in combination with reference genomes from the target species or closely related species. We review case studies to illustrate how reference genomes can facilitate biodiversity research and conservation across the tree of life. We conclude that the time is ripe to view reference genomes as fundamental resources and to integrate their use as a best practice in conservation genomics.info:eu-repo/semantics/publishedVersio

The era of reference genomes in conservation genomics

Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

The era of reference genomes in conservation genomics

info:eu-repo/semantics/publishedVersio

How genomics can help biodiversity conservation

The availability of public genomic resources can greatly assist biodiversity assessment, conservation, and restoration efforts by providing evidence for scientifically informed management decisions. Here we survey the main approaches and applications in biodiversity and conservation genomics, considering practical factors, such as cost, time, prerequisite skills, and current shortcomings of applications. Most approaches perform best in combination with reference genomes from the target species or closely related species. We review case studies to illustrate how reference genomes can facilitate biodiversity research and conservation across the tree of life. We conclude that the time is ripe to view reference genomes as fundamental resources and to integrate their use as a best practice in conservation genomics

Estudi de la recombinació en D. suboscura a nivell genòmic

[cat] La recombinació és un mecanisme universal que permet augmentar la variabilitat genètica dels organismes. Una major variabilitat es tradueix en una major capacitat d'adaptació a diferents ambients. De fet, l'estudi de la variabilitat genètica és un dels paràmetres claus a tenir en compte en la gestió d'espècies amenaçades. Un dels factors naturals que poden regular la taxa de recombinació al llarg d'un cromosoma és la presència d'inversions cromosòmiques. Les inversions, que són aberracions cromosòmiques en les que un fragment de DNA presenta una orientació invertida, redueixen la taxa de recombinació. Tot i que algunes d'aquestes inversions poden ser deletèries, en nombrosos casos s'ha observat que són adaptatives, mantenint combinacions d'al·lels favorables a un determinat ambient. Que les inversions cromosòmiques juguen un paper important en l'evolució dels organismes també s'observa pel fet que s'han descrit nombroses inversions específiques d'espècie. En la present tesi doctoral s'ha estudiat la recombinació al cromosoma O de "D. subobscura" a diferents nivells. Per una banda, s'han obtingut mapes genètics d'aquest cromosoma per dos ordenaments diferents. S'ha observat que la taxa recombinació a nivell global és força uniforme, tot i que es detecten hot i coldspots regionals. Un cop caracteritzada la recombinació en absència d'inversions, es van genotipar individus heterocariotípics per tal de determinar com les inversions modulen la recombinació. D'aquesta manera es va observar que la recombinació es troba gairebé inhibida a l'interior d'aquestes, i a més que fora d'elles la reducció és asimètrica. Per altra banda, l'anàlisi de gens nuclears candidats a estar involucrats en l'adaptació termal en individus provinents de diferents poblacions mostra que no hi ha diferències significatives, suggerint que hi ha un elevat flux gènic entre poblacions. En canvi, sí que es detecten diferències significatives en el contingut genètic de diferents ordenaments, analitzant gens localitzats dintre de les inversions. Per tant, el flux gènic es troba restringit a causa de les inversions, tot i que les estimes de recombinació mostren que aquesta no es troba totalment inhibida.[eng] Recombination is a universal mechanism that increases genetic variability of organisms. High levels of genetic diversity confer a higher capacity to adapt to different environments. For this reason, the levels of genetic variability constitute one of the key factors to take into account in the management of endangered species. Recombination rate across the chromosome is modulated by different factors, such as inversions. Chromosomal inversions, i.e. aberrations in which a chromosomal fragment is reversed, decrease the rate of genetic exchange. It is known that some inversions can be deleterious but in most of the cases, it has been shown that they are adaptive since they permit the maintenance of adaptive combination of alleles. Moreover, they play an important role in the evolution of species, since numerous inversions species-specific have been described. The main goal of this PhD thesis is to study the recombination in the O chromosome of "D. subobscura" at different levels. Genetic maps from two different types of arrangements were obtained. It was observed that at a global level, the recombination rate across the chromosome is uniform, despite some cold- and hotspots can be detected at the regional level. Furthermore, in order to determine how inversions modulate recombination rate, an analysis of heterokaryotypic lines differing by chromosomal inversions was carried out. From there, it was observed that recombination is inhibited inside inversions but also outside them, the reduction being asymmetrical in the two inversions breakpoints. On the other hand, the analysis of candidate genes to be involved in thermal adaptation in individuals from different populations presenting the same arrangement showed no significant differences, suggesting a high gene flow between arrangements. However, significant genetic differences were detected when comparing the genetic content of different arrangements. Thus, gene flux is restricted by chromosomal inversions although recombination is not totally prevented

Ethical aspects of DNA databanks of police interest.

El primer banco de datos policial basado en perfiles genéticos de DNA se introdujo en el Reino Unido en 1995. La identificación de posibles sospechosos se realiza por la comparación directa de un perfil genético recuperado del lugar de los hechos con otro almacenado en un banco de datos. Desde un principio se ha demostrado que dichos bancos de DNA son una herramienta de investigación policial poderosa, pero que presenta diversos problemas éticos. Posteriormente se fue más allá buscando coincidencias parciales, que podrían indicar un vínculo familiar entre un perfil genético almacenado y otro obtenido en el lugar de los hechos. Este procedimiento genera un elevado número de sospechosos potenciales entre personas ajenas al caso que se investiga. Recientemente la búsqueda policial basada en el DNA ha penetrado en bancos de datos de interés no criminal, sino destinados a estimar el origen étnico de personas o descubrir familiares lejanos. Este tipo de búsquedas ha suscitado la posibilidad de generar un banco de datos universal de DNA, donde toda la población estuviese incluida. Estos y otros aspectos bioéticos respecto a la información basada en el DNA y a su acceso son tratados en el presente artículo.The first police databank based on DNA genetic profiles was introduced in the UK in 1995. Identification of potential suspects is carried out by direct comparison of a genetic profile retrieved from the crime scene with another stored in a databank. DNA databanks have been proven from the outset to be a powerful police investigative tool, but they present a number of ethical issues. Later, it went further looking for partial coincidences, which could indicate a family link between a stored genetic profile and one obtained at the crime scene. This procedure generates a high number of potential suspects among people not related with the case under investigation. Recently, the DNA-based police search has penetrated databanks of non-criminal interest, but aimed at estimating the ethnic origin of people or discovering distant relatives. This type of search has raised the possibility of generating a universal DNA databank, where the entire population were included. These and other bioethical aspects regarding information based on DNA and its access are dealt with in this article