Tissue Sampling Methods and Standards for Vertebrate Genomics

The recent rise in speed and efficiency of new sequencing technologies have facilitated high-throughput sequencing, assembly and analyses of genomes, advancing ongoing efforts to analyze genetic sequences across major vertebrate groups. Standardized procedures in acquiring high quality DNA and RNA and establishing cell lines from target species will facilitate these initiatives. We provide a legal and methodological guide according to four standards of acquiring and storing tissue for the Genome 10K Project and similar initiatives as follows: four-star (banked tissue/cell cultures, RNA from multiple types of tissue for transcriptomes, and sufficient flash-frozen tissue for 1 mg of DNA, all from a single individual);three-star (RNA as above and frozen tissue for 1 mg of DNA); two-star (frozen tissue for at least 700 μg of DNA); and one-star (ethanol-preserved tissue for 700 μg of DNA or less of mixed quality). At a minimum, all tissues collected for the Genome 10K and other genomic projects should consider each species’ natural history and follow institutional and legal requirements. Associated documentation should detail as much information as possible about provenance to ensure representative sampling and subsequent sequencing. Hopefully, the procedures outlined here will not only encourage success in the Genome 10K Project but also inspire the adaptation of standards by other genomic projects, including those involving other biota

A comparative genomics multitool for scientific discovery and conservation

A whole-genome alignment of 240 phylogenetically diverse species of eutherian mammal-including 131 previously uncharacterized species-from the Zoonomia Project provides data that support biological discovery, medical research and conservation. The Zoonomia Project is investigating the genomics of shared and specialized traits in eutherian mammals. Here we provide genome assemblies for 131 species, of which all but 9 are previously uncharacterized, and describe a whole-genome alignment of 240 species of considerable phylogenetic diversity, comprising representatives from more than 80% of mammalian families. We find that regions of reduced genetic diversity are more abundant in species at a high risk of extinction, discern signals of evolutionary selection at high resolution and provide insights from individual reference genomes. By prioritizing phylogenetic diversity and making data available quickly and without restriction, the Zoonomia Project aims to support biological discovery, medical research and the conservation of biodiversity.Peer reviewe

Preservation of animal genetic resources: current practices and future opportunities

Part of SPNHC 2019 | https://osf.io/view/SPNHC201

Data from: Molecular phylogeny and chromosomal evolution of Alcelaphini (Antilopinae)

Robertsonian (Rb) translocations, in particular centric fusions, are thought to play a primary role in evolution and speciation of the Bovidae family. However, Rb fusions are often polymorphic within species, being suggested as phylogenetically uninformative characters. This work studies chromosome variation in 72 captive individuals of 6 species of Alcelaphini (Antilopinae): The hartebeest (genus Alcelaphus), hirola (Beatragus), black and blue wildebeests (Connochaetes), and the topi and bontebok (Damaliscus). We infer the phylogenic relationships among Alcelaphini species and determine patterns of chromosomal evolution using G-banded karyotypes and complete mitochondrial genome sequences. The molecular phylogeny showed an early divergence of Connochaetes, followed by the split of Alcelaphus plus Beatragus + Damaliscus as sister taxa. Mitochondrial and chromosomal phylogenies only differed in the position of the critically endangered Beatragus, likely due to homoplasic chromosome characters. Patterns of chromosome evolution, reconstructed using a probabilistic approach, suggest that chromosome changes leading to speciation in Alcelaphini do not exclusively involve consecutive reduction of diploid number through centric fusion but also the losses and reversions of Rb translocations in Beatragus and Damaliscus lineages. Our results provide evidence that complex scenarios of chromosomal rearrangements can be detected in relatively recent-diverged bovids, as in this group of antelopes

Behavioral genomics in the white-throated sparrow

Most behavioral traits are complex and are the product of interactions between multiple genes and/or environments. Therefore, ideal models in which to examine the relative roles of genetic effects should have, 1) variation in behavioral phenotypes, 2) the potential to identify the genetic bases of these behavioral traits, 3) an obvious association between phenotype and genotype, 4) the potential to identify relevant environmental conditions contributing to the establishment of behavioral phenotypes so that partitioning of gene-by-environment effects is possible, and 5) a strong understanding of the evolutionary forces influencing the system. Given these desires, an unexpected new animal model emerges for the study of behavioral genomics – morphs of the white-throated sparrow (Zonotrichia albicollis) exhibit alternative strategies of monogamy/high parental effort vs. promiscuity/low parental effort. These behaviors are absolutely correlated with the presence or absence of a large chromosomal rearrangement. We have amassed 22+ years of detailed behavioral, physiological, ecological, and evolutionary data on this species making it possible to identify the genetic, epigenetic, and environmental bases of behavior. Here we further outline the utility of the species, as well as present current cytogenetic and molecular data showing that rearrangements and linkage in multiple chromosomes are key to the evolution of alternative phenotypes. In addition, comparative analyses among the Zonotrichia suggest an interesting and slightly counterintuitive evolutionary pathway in this group. Genomic studies in the white-throated sparrow will identify the gene(s) associated with complex behaviors, as well as provide us with information on how environment interacts with genetic architecture to affect aggressive, social, sexual, and parental phenotypes. Morphs of the sparrow provide us with a unique opportunity to study intraspecific genomic differences, which have resulted from two separate, yet linked evolutionary trajectories. Such results can transform our understanding of the evolution of genomes

The value of avian genomics to the conservation of wildlife

Background: Genomic studies in non-domestic avian models, such as the California condor and white-throated sparrow, can lead to more comprehensive conservation plans and provide clues for understanding mechanisms affecting genetic variation, adaptation and evolution. Developing genomic tools and resources including genomic libraries and a genetic map of the California condor is a prerequisite for identification of candidate loci for a heritable embryonic lethal condition. The white-throated sparrow exhibits a stable genetic polymorphism (i.e. chromosomal rearrangements) associated with variation in morphology, physiology, and behavior (e.g., aggression, social behavior, sexual behavior, parental care). In this paper we outline the utility of these species as well as report on recent advances in the study of their genomes. Results: Genotyping of the condor resource population at 17 microsatellite loci provided a better assessment of the current population's genetic variation. Specific New World vulture repeats were found in the condor genome. Using condor BAC library and clones, chicken-condor comparative maps were generated. A condor fibroblast cell line transcriptome was characterized using the 454 sequencing technology. Our karyotypic analyses of the sparrow in combination with other studies indicate that the rearrangements in both chromosomes 2(m) and 3(a) are complex and likely involve multiple inversions, interchromosomal linkage, and pleiotropy. At least a portion of the rearrangement in chromosome 2(m) existed in the common ancestor of the four North American species of Zonotrichia, but not in the one South American species, and that the 2(m) form, originally thought to be the derived condition, might actually be the ancestral one. Conclusion: Mining and characterization of candidate loci in the California condor using molecular genetic and genomic techniques as well as linkage and comparative genomic mapping will eventually enable the identification of carriers of the chondrodystrophy allele, resulting in improved genetic management of this disease. In the white-throated sparrow, genomic studies, combined with ecological data, will help elucidate the basis of genic selection in a natural population. Morphs of the sparrow provide us with a unique opportunity to study intraspecific genomic differences, which have resulted from two separate yet linked evolutionary trajectories. Such results can transform our understanding of evolutionary and conservation biology

Comparative Analysis of Gene-Expression Patterns in Human and African Great Ape Cultured Fibroblasts

Although much is known about genetic variation in human and African great ape (chimpanzee, bonobo, and gorilla) genomes, substantially less is known about variation in gene-expression profiles within and among these species. This information is necessary for defining transcriptional regulatory networks that contribute to complex phenotypes unique to humans or the African great apes. We took a systematic approach to this problem by investigating gene-expression profiles in well-defined cell populations from humans, bonobos, and gorillas. By comparing these profiles from 18 human and 21 African great ape primary fibroblast cell lines, we found that gene-expression patterns could predict the species, but not the age, of the fibroblast donor. Several differentially expressed genes among human and African great ape fibroblasts involved the extracellular matrix, metabolic pathways, signal transduction, stress responses, as well as inherited overgrowth and neurological disorders. These gene-expression patterns could represent molecular adaptations that influenced the development of species-specific traits in humans and the African great apes