Biology subjects

Janke, A.

Publications and source records attributed to Janke, A..

6 recordsLinked to original sources

bioRxiv2018

Limited Introgression Supports Division of Giraffe into Four Species

All giraffe (Giraffa) were previously assigned to a single species (G. Camelopardalis) and nine subspecies. However, multi-locus analyses of all subspecies have shown that there are four genetically distinct clades and suggest four giraffe species. This conclusion might not be fully accepted due to limited data and lack of explicit gene flow analyses. Here we present an extended study based on 21 independent nuclear loci from 137 individuals. Explicit gene flow analyses identify less than one migrant per generation, including between the closely related northern and reticulated giraffe. Thus, gene flow analyses and population genetics of the extended dataset confirm four genetically distinct giraffe clades and support four independent giraffe species. The new findings call for a revision of the IUCN classification of giraffe taxonomy. Three of the four species are threatened with extinction, mostly occurring in politically unstable regions, and as such, require the highest conservation support possible.

ecology↗

bioRxiv2018

DeepQSM - Using Deep Learning to Solve the Dipole Inversion for MRI Susceptibility Mapping

Quantitative susceptibility mapping (QSM) aims to extract the magnetic susceptibility of tissue from magnetic resonance imaging (MRI) phase measurements. The mapping of magnetic susceptibility in vivo has gained broad interest in several fields of science and medicine because it yields relevant information on biological tissue properties, predominantly myelin, iron and calcium. Thereby, QSM can also reveal pathological changes of these key components in devastating diseases such as Parkinsons disease, Multiple Sclerosis, or hepatic iron overload. As QSM requires the solution of an ill-posed field-to-source-inversion, current techniques utilize manual optimization of regularization parameters to balance between smoothing, artifacts and quantification accuracy. We trained a fully convolutional deep neural network - DeepQSM - to invert the magnetic dipole kernel convolution. This network is capable of solving the ill-posed field-to-source inversion on real-world in vivo MRI phase data without the need for manual parameter tuning, which proves that this network has generalized the underlying mathematical principle of the dipole inversion. We demonstrate that DeepQSMs susceptibility maps enable identification of deep brain substructures that are not visible in MRI phase data and provide information on their respective magnetic tissue properties. We illustrate DeepQSMs clinical relevance in a patient with multiple sclerosis showing its sensitivity to white matter lesions. In summary, DeepQSM can be used to determine the composition of myelin sheets of nerve fibers in the brain, and to assess quantitative information on iron homeostasis and its dysregulation, and will subsequently contribute to a better understanding of these biological processes in health and disease.

neuroscience↗

bioRxiv2017

Building a high-resolution in vivo minimum deformation average model of the human hippocampus

ObjectiveMinimum deformation averaging (MDA) procedures exploit the information contained in inter-individual variations to generate high-resolution, high-contrast models through iterative model building. However, MDA models built from different image contrasts reside in disparate spaces and their complementary information cannot be utilized easily. The aim of this work was to develop an algorithm for the non-linear alignment of two MDA models with different contrasts to create a high-resolution in vivo model of the human hippocampus with a spatial resolution of 300 m.\n\nMethodsA Turbo Spin Echo MDA model covering the hippocampus was contrast matched to a whole-brain MP2RAGE MDA model and aligned using cross-correlation and non-linear transformation. The contrast matching algorithm followed a global voxel location-based approach to estimate the relationship between intensity values of the two models. The performance of the algorithm was evaluated by comparing it to a non-linear registration obtained using mutual information without contrast matching. The complimentary information from both contrasts was then utilized in an automated hippocampal subfield segmentation pipeline.\n\nResultsThe contrast of the Turbo Spin Echo MDA model could successfully be matched to the MP2RAGE MDA model. Registration using cross correlation provided more accurate alignment of the models compared to a mutual information based approach. The segmentation using ASHS resulted in hippocampal subfield delineations that resembled the tissue boundaries observed in the Turbo Spin Echo MDA model.\n\nConclusionThe developed contrast matching algorithm facilitated the creation of a high-resolution multi-modal in vivo MDA model of the human hippocampus. This model can be used to improve algorithms for hippocampal subfield segmentation and could potentially support the early detection of neurodegenerative diseases.

neuroscience↗

bioRxiv2017

Phylogenetic Conflict In Bears Identified By Automated Discovery Of Transposable Element Insertions In Low Coverage Genomes

Compared to sequence analyses, phylogenetic reconstruction from transposable elements (TEs) offers an additional perspective to study evolutionary processes. However, detecting phylogenetically informative TE insertions requires tedious experimental work, limiting the power of phylogenetic inference. Here, we analyzed the genomes of seven bear species using high throughput sequencing data to detect thousands of TE insertions. The newly developed pipeline for TE detection called TeddyPi (TE detection and discovery for Phylogenetic Inference) obtained 150,513 high-quality TE insertions in the genomes of ursine and tremarctine bears. By integrating different TE insertion callers and using a stringent filtering approach, the TeddyPi pipeline produced highly reliable TE insertion calls, which were confirmed by extensive in vitro validation experiments. Screening for single nucleotide substitutions in the flanking regions of the TEs show that these substitutions correlate with the phylogenetic signal from the TE insertions. Our phylogenomic analyses show that TEs are a major driver of genomic variation in bears and enabled phylogenetic reconstruction of a well-resolved species tree, even with strong signals for incomplete lineage sorting and introgression. The analyses show that the Asiatic black, sun and sloth bear form a monophyletic clade. TeddyPi is open source and can be adapted to various TE and structural variation callers. The pipeline makes it easy to confidently extract thousands of TE insertions even from low coverage genomes of non-model organisms, opening new possibilities for biologists to study phylogenies, evolutionary processes as well as rates and patterns of (retro-)transposition and structural variation.

evolutionary biology↗

bioRxiv2016

Screening for the ancient polar bear mitochondrial genome reveals low integration of mitochondrial pseudogenes (numts) in bears

Phylogenetic analyses of nuclear and mitochondrial genomes have shown that polar bears captured the mitochondrial genome of brown bears some 160,00 years ago. This hybridization event likely led to an extinction of the original polar bear mitochondrial genome. However, parts of the mitochondrial DNA occasionally integrates into the nuclear genome, forming pseudogenes called numts (nuclear mitochondrial integrations). Screening the polar bear genome for numts, we identified only 13 such integrations. Analyses of whole-genome sequences from additional polar bears, brown and American black bears as well as the giant panda indicates that the discovered numts entered the bear lineage before the initial ursid radiation some 14 million years ago. Our findings suggests a low integration rate of numts in the bear lineage and a complete loss of the original polar bear mitochondrial genome.

evolutionary biology↗

bioRxiv2016

The evolutionary history of bears is shaped by gene flow across species

Bears are iconic mammals with a complex evolutionary history. Natural bear hybrids and studies of few nuclear genes indicate that gene flow among bears may be more common than expected and not limited to the closely related polar and brown bears. Here we present a genome analysis of the bear family with representatives of all living species. Phylogenomic analyses of 869 mega base pairs divided into 18,621 genome fragments yielded a well-resolved coalescent species tree despite signals for extensive gene flow across species. However, genome analyses using three different statistical methods show that gene flow is not limited to closely related species pairs. Strong ancestral gene flow between the Asiatic black bear and the ancestor to polar, brown and American black bear explains numerous uncertainties in reconstructing the bear phylogeny. Gene flow across the bear clade may be mediated by intermediate species such as the geographically wide-spread brown bears leading to massive amounts of phylogenetic conflict. Genome-scale analyses lead to a more complete understanding of complex evolutionary processes. The increasing evidence for extensive inter-specific gene flow, found also in other animal species, necessitates shifting the attention from speciation processes achieving genome-wide reproductive isolation to the selective processes that maintain species divergence in the face of gene flow.

evolutionary biology↗