Ingo Ebersberger - Academia.edu (original) (raw)

Papers by Ingo Ebersberger

Research paper thumbnail of PhyloProfile: dynamic visualization and exploration of multi-layered phylogenetic profiles

Bioinformatics

Phylogenetic profiles form the basis for tracing proteins and their functions across species and ... more Phylogenetic profiles form the basis for tracing proteins and their functions across species and through time. Novel genome sequences nowadays often represent species from the remotest corner of the tree of life. Thus, phylogenetic profiling becomes increasingly important for functionally annotating this data and to integrate it into a comprehensive view on organismal evolution. To strengthen the link between the sharing of a gene across species and of the corresponding function, it is meanwhile common to complement phylogenetic profiles with additional information, such as domain architecture similarities between orthologs, or pairwise similarities of other protein features. However, there are few visualization tools that facilitate an intuitive integration of these various information layers. Here, we present PhyloProfile, an R-based tool to visualize, explore and analyze multi-layered phylogenetic profiles.

Research paper thumbnail of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

BMC Evolutionary Biology, 2015

Background: Life history traits like developmental time, age and size at maturity are directly re... more Background: Life history traits like developmental time, age and size at maturity are directly related to fitness in all organisms and play a major role in adaptive evolution and speciation processes. Comparative genomic or transcriptomic approaches to identify positively selected genes involved in species divergence can help to generate hypotheses on the driving forces behind speciation. Here we use a bottom-up approach to investigate this hypothesis by comparative analysis of orthologous transcripts of four closely related European Radix species. Results: Snails of the genus Radix occupy species specific distribution ranges with distinct climatic niches, indicating a potential for natural selection driven speciation based on ecological niche differentiation. We then inferred phylogenetic relationships among the four Radix species based on whole mt-genomes plus 23 nuclear loci. Three different tests to infer selection and changes in amino acid properties yielded a total of 134 genes with signatures of positive selection. The majority of these genes belonged to the functional gene ontology categories "reproduction" and "genitalia" with an overrepresentation of the functions "development" and "growth rate".

Research paper thumbnail of A neutral explanation for the correlation between diversity levels and recombination rates in human

Research paper thumbnail of TabHsfs plants modified

Research paper thumbnail of Table: Plant Hsfs and sequence data base

data base containing sequences and analysis tools for 850 Hsfs from 33 plants with full length se... more data base containing sequences and analysis tools for 850 Hsfs from 33 plants with full length sequence available, see:http://www.cibiv.at/services/hsf/ (Scharf, Berberich, Ebersberger, Nover BBA 2012)

Research paper thumbnail of DNA sequence variation among humans and apes (abstract only)

Proceedings of the fourth annual international conference on Computational molecular biology - RECOMB '00, 2000

In order to shed light on the rate and mode of evolution of DNA sequence evolution in the germ li... more In order to shed light on the rate and mode of evolution of DNA sequence evolution in the germ line of humans and chimpanzees, we have sequenced 136 kb around the human ZFY gene as well as a total of 180 kb of genomic DNA surrounding the ZFX and ZFY genes on the chimpanzee X and Y chromosome, respectively. The

Research paper thumbnail of A transcriptome approach to ecdysozoan phylogeny

Molecular phylogenetics and evolution, 2014

The monophyly of Ecdysozoa, which comprise molting phyla, has received strong support from severa... more The monophyly of Ecdysozoa, which comprise molting phyla, has received strong support from several lines of evidence. However, the internal relationships of Ecdysozoa are still contended. We generated expressed sequence tags from a priapulid (penis worm), a kinorhynch (mud dragon), a tardigrade (water bear) and five chelicerate taxa by 454 transcriptome sequencing. A multigene alignment was assembled from 63 taxa, which comprised after matrix optimization 24,249 amino acid positions with high data density (2.6% gaps, 19.1% missing data). Phylogenetic analyses employing various models support the monophyly of Ecdysozoa. A clade combining Priapulida and Kinorhyncha (i.e. Scalidophora) was recovered as the earliest branch among Ecdysozoa. We conclude that Cycloneuralia, a taxon erected to combine Priapulida, Kinorhyncha and Nematoda (and others), are paraphyletic. Rather Arthropoda (including Onychophora) are allied with Nematoda and Tardigrada. Within Arthropoda, we found strong suppo...

Research paper thumbnail of Lophophorata monophyletic - after all

The lophophorates are mainly marine, sessile invertebrates that are characterized by a lophophore... more The lophophorates are mainly marine, sessile invertebrates that are characterized by a lophophore, a horseshoe-shaped tentacular filter apparatus surrounding the mouth opening. Lophophorata comprises three divergent lineages, Phoronida, Brachiopoda and Ectoprocta (Bryozoa). Their phylogenetic relationships to other metazoan phyla as well as to each other have long remained unclear. Based on ontological and morphological evidence, Lophophorata was long considered to be the sister or paraphyletic stem-group of Deuterostomia. In contrast, phylogenomic analyses indicated that the lophophorates are more closely related to trochozoans than to deuterostomes in accordance with previous molecular analyses. The phylogenomic studies supported monophyletic Brachiozoa including Brachiopoda and Phoronida as well as Polyzoa including Ectoprocta, Entoprocta and Cycliophora, thus rendering Lophophorata polyphyletic. In contrast to previous molecular phylogenetic studies, the phylogenomic analyses pr...

Research paper thumbnail of Phylogeny Reconstruction

Research paper thumbnail of Higher Plant Proteins of Cyanobacterial Origin: Are They or Are They Not Preferentially Targeted to Chloroplasts?

Research paper thumbnail of The association of late-acting snoRNPs with human pre-ribosomal complexes requires the RNA helicase DDX21

Nucleic acids research, Jan 9, 2015

Translation fidelity and efficiency require multiple ribosomal (r)RNA modifications that are most... more Translation fidelity and efficiency require multiple ribosomal (r)RNA modifications that are mostly mediated by small nucleolar (sno)RNPs during ribosome production. Overlapping basepairing of snoRNAs with pre-rRNAs often necessitates sequential and efficient association and dissociation of the snoRNPs, however, how such hierarchy is established has remained unknown so far. Here, we identify several late-acting snoRNAs that bind pre-40S particles in human cells and show that their association and function in pre-40S complexes is regulated by the RNA helicase DDX21. We map DDX21 crosslinking sites on pre-rRNAs and show their overlap with the basepairing sites of the affected snoRNAs. While DDX21 activity is required for recruitment of the late-acting snoRNAs SNORD56 and SNORD68, earlier snoRNAs are not affected by DDX21 depletion. Together, these observations provide an understanding of the timing and ordered hierarchy of snoRNP action in pre-40S maturation and reveal a novel mode of...

Research paper thumbnail of Evolution of Jak and Stat Proteins

Jak-Stat Signaling : From Basics to Disease, 2012

ABSTRACT

Research paper thumbnail of Should the draft chimpanzee sequence be finished?

Trends in Genetics, 2006

Owing to the availability of genome working drafts (WDs), current comparative-sequence studies ar... more Owing to the availability of genome working drafts (WDs), current comparative-sequence studies are frequently performed on a genome-wide scale. In this article, we appraise the utility of WD sequences in the detection of genomic differences in closely related species. We compared human DNA sequences with draft and high-quality versions of the corresponding chimpanzee loci to reveal the overall high quality of the chimp WD sequence. Nevertheless, a significant proportion of the differences between WD and high-quality sequences we observed can be attributed to sequencing errors in the draft. Although we suggest methods to reduce the number of such false positives efficiently, our study emphasizes the benefit expected from finishing the chimpanzee genome sequence.

Research paper thumbnail of Genome-Wide RNAi Screen Identifies Genes Involved in Intestinal Pathogenic Bacterial Infection

Science, 2009

Innate immunity represents the first line of defense in animals. We report a genome-wide in vivo ... more Innate immunity represents the first line of defense in animals. We report a genome-wide in vivo Drosophila RNA interference screen to uncover genes involved in susceptibility or resistance to intestinal infection with the bacterium Serratia marcescens. We employed first whole-organism gene suppression followed by tissue-specific silencing in gut epithelium or hemocytes to identify several hundred genes involved in intestinal anti-bacterial immunity. Among the pathways identified, we showed that the JAK-STAT signaling pathway controls host defense in the gut by regulating stem cell proliferation and thus epithelial cell homeostasis. Thus, we revealed multiple genes involved in anti-bacterial defense and the regulation of innate immunity.

Research paper thumbnail of Transcriptome Data Reveal Syndermatan Relationships and Suggest the Evolution of Endoparasitism in Acanthocephala via an Epizoic Stage

PLoS ONE, 2014

The taxon Syndermata comprises the biologically interesting wheel animals (&a... more The taxon Syndermata comprises the biologically interesting wheel animals ("Rotifera": Bdelloidea + Monogononta + Seisonidea) and thorny-headed worms (Acanthocephala), and is central for testing superordinate phylogenetic hypotheses (Platyzoa, Gnathifera) in the metazoan tree of life. Recent analyses of syndermatan phylogeny suggested paraphyly of Eurotatoria (free-living bdelloids and monogononts) with respect to endoparasitic acanthocephalans. Data of epizoic seisonids, however, were absent, which may have affected the branching order within the syndermatan clade. Moreover, the position of Seisonidea within Syndermata should help in understanding the evolution of acanthocephalan endoparasitism. Here, we report the first phylogenomic analysis that includes all four higher-ranked groups of Syndermata. The analyzed data sets comprise new transcriptome data for Seison spec. (Seisonidea), Brachionus manjavacas (Monogononta), Adineta vaga (Bdelloidea), and Paratenuisentis ambiguus (Acanthocephala). Maximum likelihood and Bayesian trees for a total of 19 metazoan species were reconstructed from up to 410 functionally diverse proteins. The results unanimously place Monogononta basally within Syndermata, and Bdelloidea appear as the sister group to a clade comprising epizoic Seisonidea and endoparasitic Acanthocephala. Our results support monophyly of Syndermata, Hemirotifera (Bdelloidea + Seisonidea + Acanthocephala), and Pararotatoria (Seisonidea + Acanthocephala), rejecting monophyly of traditional Rotifera and Eurotatoria. This serves as an indication that early acanthocephalans lived epizoically or as ectoparasites on arthropods, before their complex lifecycle with arthropod intermediate and vertebrate definite hosts evolved.

Research paper thumbnail of The evolution of the ribosome biogenesis pathway from a yeast perspective

Nucleic Acids Research, 2014

Ribosome biogenesis is fundamental for cellular life, but surprisingly little is known about the ... more Ribosome biogenesis is fundamental for cellular life, but surprisingly little is known about the underlying pathway. In eukaryotes a comprehensive collection of experimentally verified ribosome biogenesis factors (RBFs) exists only for Saccharomyces cerevisiae. Far less is known for other fungi, animals or plants, and insights are even more limited for archaea. Starting from 255 yeast RBFs, we integrated ortholog searches, domain architecture comparisons and, in part, manual curation to investigate the inventories of RBF candidates in 261 eukaryotes, 26 archaea and 57 bacteria. The resulting phylogenetic profiles reveal the evolutionary ancestry of the yeast pathway. The oldest core comprising 20 RBF lineages dates back to the last universal common ancestor, while the youngest 20 factors are confined to the Saccharomycotina. On this basis, we outline similarities and differences of ribosome biogenesis across contemporary species. Archaea, so far a rather uncharted domain, possess 38 well-supported RBF candidates of which some are known to form functional sub-complexes in yeast. This provides initial evidence that ribosome biogenesis in eukaryotes and archaea follows similar principles. Within eukaryotes, RBF repertoires vary considerably. A comparison of yeast and human reveals that lineage-specific adaptation via RBF exclusion and addition characterizes the evolution of this ancient pathway.

Research paper thumbnail of Multiplex amplification of the mammoth mitochondrial genome and the evolution of Elephantidae

Nature, 2006

In studying the genomes of extinct species, two principal limitations are typically the small qua... more In studying the genomes of extinct species, two principal limitations are typically the small quantities of endogenous ancient DNA and its degraded condition 1 , even though products of up to 1,600 base pairs (bp) have been amplified in rare cases 2 . Using small overlapping polymerase chain reaction products, longer stretches of sequences or even whole mitochondrial genomes 3,4 can be reconstructed, but this approach is limited by the number of amplifications that can be performed from rare samples. Thus, even from well-studied Pleistocene species such as mammoths, ground sloths and cave bears, no DNA sequences of more than about 1,000 bp have been reconstructed 5-7 . Here we report the complete mitochondrial genome sequence of the Pleistocene woolly mammoth Mammuthus primigenius. We used about 200 mg of bone and a new approach that allows the simultaneous retrieval of multiple sequences from small amounts of degraded DNA. Our phylogenetic analyses show that the mammoth was more closely related to the Asian than to the African elephant. However, the divergence of mammoth, African and Asian elephants occurred over a short time, corresponding to only about 7% of the total length of the phylogenetic tree for the three evolutionary lineages.

Research paper thumbnail of Support for the monophyletic origin of Gnathifera from phylogenomics

Molecular Phylogenetics and Evolution, 2009

The monophyletic origin of Spiralia within the metazoan tree of life is supported by many large-s... more The monophyletic origin of Spiralia within the metazoan tree of life is supported by many large-scale phylogenomic data. While there is now substantial molecular evidence for Lophotrochozoa being a monophyletic taxon within Spiralia, the phylogenetic affiliations of many other spiralian phyla remain unclear. Here we focus on the question of a monophyletic taxon Gnathifera, which was originally characterized by jaw morphology as comprising the taxa Rotifera, Acanthocephala and Gnathostomulida. Based on a large-scale molecular sequence dataset of 11,146 amino acid residues, we reconstructed phylogenetic trees of spiralian phyla using maximum-likelihood and Bayesian approaches. We obtain the first phylogenomic evidence for the clade Gnathifera, linking Syndermata (Rotifera + Acanthocephala) with Gnathostomulida. Furthermore, our data support recent findings concerning the paraphyly of Eurotatoria.

Research paper thumbnail of EST sequencing of Onychophora and phylogenomic analysis of Metazoa

Molecular Phylogenetics and Evolution, 2007

Onychophora (velvet worms) represent a small animal taxon considered to be related to Euarthropod... more Onychophora (velvet worms) represent a small animal taxon considered to be related to Euarthropoda. We have obtained 1873 5 0 cDNA sequences (expressed sequence tags, ESTs) from the velvet worm Epiperipatus sp., which were assembled into 833 contigs. BLAST similarity searches revealed that 51.9% of the contigs had matches in the protein databases with expectation values lower than 10 À4 . Most ESTs had the best hit with proteins from either Chordata or Arthropoda ($40% respectively). The ESTs included sequences of 27 ribosomal proteins. The orthologous sequences from 28 other species of a broad range of phyla were obtained from the databases, including other EST projects. A concatenated amino acid alignment comprising 5021 positions was constructed, which covers 4259 positions when problematic regions were removed. Bayesian and maximum likelihood methods place Epiperipatus within the monophyletic Ecdysozoa (Onychophora, Arthropoda, Tardigrada and Nematoda), but its exact relation to the Euarthropoda remained unresolved. The ''Articulata'' concept was not supported. Tardigrada and Nematoda formed a well-supported monophylum, suggesting that Tardigrada are actually Cycloneuralia. In agreement with previous studies, we have demonstrated that random sequencing of cDNAs results in sequence information suitable for phylogenomic approaches to resolve metazoan relationships.

Research paper thumbnail of A Consistent Phylogenetic Backbone for the Fungi

Molecular Biology and Evolution, 2012

The kingdom of fungi provides model organisms for biotechnology, cell biology, genetics, and life... more The kingdom of fungi provides model organisms for biotechnology, cell biology, genetics, and life sciences in general. Only when their phylogenetic relationships are stably resolved, can individual results from fungal research be integrated into a holistic picture of biology. However, and despite recent progress, many deep relationships within the fungi remain unclear. Here, we present the first phylogenomic study of an entire eukaryotic kingdom that uses a consistency criterion to strengthen phylogenetic conclusions. We reason that branches (splits) recovered with independent data and different tree reconstruction methods are likely to reflect true evolutionary relationships. Two complementary phylogenomic data sets based on 99 fungal genomes and 109 fungal expressed sequence tag (EST) sets analyzed with four different tree reconstruction methods shed light from different angles on the fungal tree of life. Eleven additional data sets address specifically the phylogenetic position of Blastocladiomycota, Ustilaginomycotina, and Dothideomycetes, respectively. The combined evidence from the resulting trees supports the deep-level stability of the fungal groups toward a comprehensive natural system of the fungi. In addition, our analysis reveals methodologically interesting aspects. Enrichment for EST encoded data-a common practice in phylogenomic analyses-introduces a strong bias toward slowly evolving and functionally correlated genes. Consequently, the generalization of phylogenomic data sets as collections of randomly selected genes cannot be taken for granted. A thorough characterization of the data to assess possible influences on the tree reconstruction should therefore become a standard in phylogenomic analyses.

Research paper thumbnail of PhyloProfile: dynamic visualization and exploration of multi-layered phylogenetic profiles

Bioinformatics

Phylogenetic profiles form the basis for tracing proteins and their functions across species and ... more Phylogenetic profiles form the basis for tracing proteins and their functions across species and through time. Novel genome sequences nowadays often represent species from the remotest corner of the tree of life. Thus, phylogenetic profiling becomes increasingly important for functionally annotating this data and to integrate it into a comprehensive view on organismal evolution. To strengthen the link between the sharing of a gene across species and of the corresponding function, it is meanwhile common to complement phylogenetic profiles with additional information, such as domain architecture similarities between orthologs, or pairwise similarities of other protein features. However, there are few visualization tools that facilitate an intuitive integration of these various information layers. Here, we present PhyloProfile, an R-based tool to visualize, explore and analyze multi-layered phylogenetic profiles.

Research paper thumbnail of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

BMC Evolutionary Biology, 2015

Background: Life history traits like developmental time, age and size at maturity are directly re... more Background: Life history traits like developmental time, age and size at maturity are directly related to fitness in all organisms and play a major role in adaptive evolution and speciation processes. Comparative genomic or transcriptomic approaches to identify positively selected genes involved in species divergence can help to generate hypotheses on the driving forces behind speciation. Here we use a bottom-up approach to investigate this hypothesis by comparative analysis of orthologous transcripts of four closely related European Radix species. Results: Snails of the genus Radix occupy species specific distribution ranges with distinct climatic niches, indicating a potential for natural selection driven speciation based on ecological niche differentiation. We then inferred phylogenetic relationships among the four Radix species based on whole mt-genomes plus 23 nuclear loci. Three different tests to infer selection and changes in amino acid properties yielded a total of 134 genes with signatures of positive selection. The majority of these genes belonged to the functional gene ontology categories "reproduction" and "genitalia" with an overrepresentation of the functions "development" and "growth rate".

Research paper thumbnail of A neutral explanation for the correlation between diversity levels and recombination rates in human

Research paper thumbnail of TabHsfs plants modified

Research paper thumbnail of Table: Plant Hsfs and sequence data base

data base containing sequences and analysis tools for 850 Hsfs from 33 plants with full length se... more data base containing sequences and analysis tools for 850 Hsfs from 33 plants with full length sequence available, see:http://www.cibiv.at/services/hsf/ (Scharf, Berberich, Ebersberger, Nover BBA 2012)

Research paper thumbnail of DNA sequence variation among humans and apes (abstract only)

Proceedings of the fourth annual international conference on Computational molecular biology - RECOMB '00, 2000

In order to shed light on the rate and mode of evolution of DNA sequence evolution in the germ li... more In order to shed light on the rate and mode of evolution of DNA sequence evolution in the germ line of humans and chimpanzees, we have sequenced 136 kb around the human ZFY gene as well as a total of 180 kb of genomic DNA surrounding the ZFX and ZFY genes on the chimpanzee X and Y chromosome, respectively. The

Research paper thumbnail of A transcriptome approach to ecdysozoan phylogeny

Molecular phylogenetics and evolution, 2014

The monophyly of Ecdysozoa, which comprise molting phyla, has received strong support from severa... more The monophyly of Ecdysozoa, which comprise molting phyla, has received strong support from several lines of evidence. However, the internal relationships of Ecdysozoa are still contended. We generated expressed sequence tags from a priapulid (penis worm), a kinorhynch (mud dragon), a tardigrade (water bear) and five chelicerate taxa by 454 transcriptome sequencing. A multigene alignment was assembled from 63 taxa, which comprised after matrix optimization 24,249 amino acid positions with high data density (2.6% gaps, 19.1% missing data). Phylogenetic analyses employing various models support the monophyly of Ecdysozoa. A clade combining Priapulida and Kinorhyncha (i.e. Scalidophora) was recovered as the earliest branch among Ecdysozoa. We conclude that Cycloneuralia, a taxon erected to combine Priapulida, Kinorhyncha and Nematoda (and others), are paraphyletic. Rather Arthropoda (including Onychophora) are allied with Nematoda and Tardigrada. Within Arthropoda, we found strong suppo...

Research paper thumbnail of Lophophorata monophyletic - after all

The lophophorates are mainly marine, sessile invertebrates that are characterized by a lophophore... more The lophophorates are mainly marine, sessile invertebrates that are characterized by a lophophore, a horseshoe-shaped tentacular filter apparatus surrounding the mouth opening. Lophophorata comprises three divergent lineages, Phoronida, Brachiopoda and Ectoprocta (Bryozoa). Their phylogenetic relationships to other metazoan phyla as well as to each other have long remained unclear. Based on ontological and morphological evidence, Lophophorata was long considered to be the sister or paraphyletic stem-group of Deuterostomia. In contrast, phylogenomic analyses indicated that the lophophorates are more closely related to trochozoans than to deuterostomes in accordance with previous molecular analyses. The phylogenomic studies supported monophyletic Brachiozoa including Brachiopoda and Phoronida as well as Polyzoa including Ectoprocta, Entoprocta and Cycliophora, thus rendering Lophophorata polyphyletic. In contrast to previous molecular phylogenetic studies, the phylogenomic analyses pr...

Research paper thumbnail of Phylogeny Reconstruction

Research paper thumbnail of Higher Plant Proteins of Cyanobacterial Origin: Are They or Are They Not Preferentially Targeted to Chloroplasts?

Research paper thumbnail of The association of late-acting snoRNPs with human pre-ribosomal complexes requires the RNA helicase DDX21

Nucleic acids research, Jan 9, 2015

Translation fidelity and efficiency require multiple ribosomal (r)RNA modifications that are most... more Translation fidelity and efficiency require multiple ribosomal (r)RNA modifications that are mostly mediated by small nucleolar (sno)RNPs during ribosome production. Overlapping basepairing of snoRNAs with pre-rRNAs often necessitates sequential and efficient association and dissociation of the snoRNPs, however, how such hierarchy is established has remained unknown so far. Here, we identify several late-acting snoRNAs that bind pre-40S particles in human cells and show that their association and function in pre-40S complexes is regulated by the RNA helicase DDX21. We map DDX21 crosslinking sites on pre-rRNAs and show their overlap with the basepairing sites of the affected snoRNAs. While DDX21 activity is required for recruitment of the late-acting snoRNAs SNORD56 and SNORD68, earlier snoRNAs are not affected by DDX21 depletion. Together, these observations provide an understanding of the timing and ordered hierarchy of snoRNP action in pre-40S maturation and reveal a novel mode of...

Research paper thumbnail of Evolution of Jak and Stat Proteins

Jak-Stat Signaling : From Basics to Disease, 2012

ABSTRACT

Research paper thumbnail of Should the draft chimpanzee sequence be finished?

Trends in Genetics, 2006

Owing to the availability of genome working drafts (WDs), current comparative-sequence studies ar... more Owing to the availability of genome working drafts (WDs), current comparative-sequence studies are frequently performed on a genome-wide scale. In this article, we appraise the utility of WD sequences in the detection of genomic differences in closely related species. We compared human DNA sequences with draft and high-quality versions of the corresponding chimpanzee loci to reveal the overall high quality of the chimp WD sequence. Nevertheless, a significant proportion of the differences between WD and high-quality sequences we observed can be attributed to sequencing errors in the draft. Although we suggest methods to reduce the number of such false positives efficiently, our study emphasizes the benefit expected from finishing the chimpanzee genome sequence.

Research paper thumbnail of Genome-Wide RNAi Screen Identifies Genes Involved in Intestinal Pathogenic Bacterial Infection

Science, 2009

Innate immunity represents the first line of defense in animals. We report a genome-wide in vivo ... more Innate immunity represents the first line of defense in animals. We report a genome-wide in vivo Drosophila RNA interference screen to uncover genes involved in susceptibility or resistance to intestinal infection with the bacterium Serratia marcescens. We employed first whole-organism gene suppression followed by tissue-specific silencing in gut epithelium or hemocytes to identify several hundred genes involved in intestinal anti-bacterial immunity. Among the pathways identified, we showed that the JAK-STAT signaling pathway controls host defense in the gut by regulating stem cell proliferation and thus epithelial cell homeostasis. Thus, we revealed multiple genes involved in anti-bacterial defense and the regulation of innate immunity.

Research paper thumbnail of Transcriptome Data Reveal Syndermatan Relationships and Suggest the Evolution of Endoparasitism in Acanthocephala via an Epizoic Stage

PLoS ONE, 2014

The taxon Syndermata comprises the biologically interesting wheel animals (&a... more The taxon Syndermata comprises the biologically interesting wheel animals ("Rotifera": Bdelloidea + Monogononta + Seisonidea) and thorny-headed worms (Acanthocephala), and is central for testing superordinate phylogenetic hypotheses (Platyzoa, Gnathifera) in the metazoan tree of life. Recent analyses of syndermatan phylogeny suggested paraphyly of Eurotatoria (free-living bdelloids and monogononts) with respect to endoparasitic acanthocephalans. Data of epizoic seisonids, however, were absent, which may have affected the branching order within the syndermatan clade. Moreover, the position of Seisonidea within Syndermata should help in understanding the evolution of acanthocephalan endoparasitism. Here, we report the first phylogenomic analysis that includes all four higher-ranked groups of Syndermata. The analyzed data sets comprise new transcriptome data for Seison spec. (Seisonidea), Brachionus manjavacas (Monogononta), Adineta vaga (Bdelloidea), and Paratenuisentis ambiguus (Acanthocephala). Maximum likelihood and Bayesian trees for a total of 19 metazoan species were reconstructed from up to 410 functionally diverse proteins. The results unanimously place Monogononta basally within Syndermata, and Bdelloidea appear as the sister group to a clade comprising epizoic Seisonidea and endoparasitic Acanthocephala. Our results support monophyly of Syndermata, Hemirotifera (Bdelloidea + Seisonidea + Acanthocephala), and Pararotatoria (Seisonidea + Acanthocephala), rejecting monophyly of traditional Rotifera and Eurotatoria. This serves as an indication that early acanthocephalans lived epizoically or as ectoparasites on arthropods, before their complex lifecycle with arthropod intermediate and vertebrate definite hosts evolved.

Research paper thumbnail of The evolution of the ribosome biogenesis pathway from a yeast perspective

Nucleic Acids Research, 2014

Ribosome biogenesis is fundamental for cellular life, but surprisingly little is known about the ... more Ribosome biogenesis is fundamental for cellular life, but surprisingly little is known about the underlying pathway. In eukaryotes a comprehensive collection of experimentally verified ribosome biogenesis factors (RBFs) exists only for Saccharomyces cerevisiae. Far less is known for other fungi, animals or plants, and insights are even more limited for archaea. Starting from 255 yeast RBFs, we integrated ortholog searches, domain architecture comparisons and, in part, manual curation to investigate the inventories of RBF candidates in 261 eukaryotes, 26 archaea and 57 bacteria. The resulting phylogenetic profiles reveal the evolutionary ancestry of the yeast pathway. The oldest core comprising 20 RBF lineages dates back to the last universal common ancestor, while the youngest 20 factors are confined to the Saccharomycotina. On this basis, we outline similarities and differences of ribosome biogenesis across contemporary species. Archaea, so far a rather uncharted domain, possess 38 well-supported RBF candidates of which some are known to form functional sub-complexes in yeast. This provides initial evidence that ribosome biogenesis in eukaryotes and archaea follows similar principles. Within eukaryotes, RBF repertoires vary considerably. A comparison of yeast and human reveals that lineage-specific adaptation via RBF exclusion and addition characterizes the evolution of this ancient pathway.

Research paper thumbnail of Multiplex amplification of the mammoth mitochondrial genome and the evolution of Elephantidae

Nature, 2006

In studying the genomes of extinct species, two principal limitations are typically the small qua... more In studying the genomes of extinct species, two principal limitations are typically the small quantities of endogenous ancient DNA and its degraded condition 1 , even though products of up to 1,600 base pairs (bp) have been amplified in rare cases 2 . Using small overlapping polymerase chain reaction products, longer stretches of sequences or even whole mitochondrial genomes 3,4 can be reconstructed, but this approach is limited by the number of amplifications that can be performed from rare samples. Thus, even from well-studied Pleistocene species such as mammoths, ground sloths and cave bears, no DNA sequences of more than about 1,000 bp have been reconstructed 5-7 . Here we report the complete mitochondrial genome sequence of the Pleistocene woolly mammoth Mammuthus primigenius. We used about 200 mg of bone and a new approach that allows the simultaneous retrieval of multiple sequences from small amounts of degraded DNA. Our phylogenetic analyses show that the mammoth was more closely related to the Asian than to the African elephant. However, the divergence of mammoth, African and Asian elephants occurred over a short time, corresponding to only about 7% of the total length of the phylogenetic tree for the three evolutionary lineages.

Research paper thumbnail of Support for the monophyletic origin of Gnathifera from phylogenomics

Molecular Phylogenetics and Evolution, 2009

The monophyletic origin of Spiralia within the metazoan tree of life is supported by many large-s... more The monophyletic origin of Spiralia within the metazoan tree of life is supported by many large-scale phylogenomic data. While there is now substantial molecular evidence for Lophotrochozoa being a monophyletic taxon within Spiralia, the phylogenetic affiliations of many other spiralian phyla remain unclear. Here we focus on the question of a monophyletic taxon Gnathifera, which was originally characterized by jaw morphology as comprising the taxa Rotifera, Acanthocephala and Gnathostomulida. Based on a large-scale molecular sequence dataset of 11,146 amino acid residues, we reconstructed phylogenetic trees of spiralian phyla using maximum-likelihood and Bayesian approaches. We obtain the first phylogenomic evidence for the clade Gnathifera, linking Syndermata (Rotifera + Acanthocephala) with Gnathostomulida. Furthermore, our data support recent findings concerning the paraphyly of Eurotatoria.

Research paper thumbnail of EST sequencing of Onychophora and phylogenomic analysis of Metazoa

Molecular Phylogenetics and Evolution, 2007

Onychophora (velvet worms) represent a small animal taxon considered to be related to Euarthropod... more Onychophora (velvet worms) represent a small animal taxon considered to be related to Euarthropoda. We have obtained 1873 5 0 cDNA sequences (expressed sequence tags, ESTs) from the velvet worm Epiperipatus sp., which were assembled into 833 contigs. BLAST similarity searches revealed that 51.9% of the contigs had matches in the protein databases with expectation values lower than 10 À4 . Most ESTs had the best hit with proteins from either Chordata or Arthropoda ($40% respectively). The ESTs included sequences of 27 ribosomal proteins. The orthologous sequences from 28 other species of a broad range of phyla were obtained from the databases, including other EST projects. A concatenated amino acid alignment comprising 5021 positions was constructed, which covers 4259 positions when problematic regions were removed. Bayesian and maximum likelihood methods place Epiperipatus within the monophyletic Ecdysozoa (Onychophora, Arthropoda, Tardigrada and Nematoda), but its exact relation to the Euarthropoda remained unresolved. The ''Articulata'' concept was not supported. Tardigrada and Nematoda formed a well-supported monophylum, suggesting that Tardigrada are actually Cycloneuralia. In agreement with previous studies, we have demonstrated that random sequencing of cDNAs results in sequence information suitable for phylogenomic approaches to resolve metazoan relationships.

Research paper thumbnail of A Consistent Phylogenetic Backbone for the Fungi

Molecular Biology and Evolution, 2012

The kingdom of fungi provides model organisms for biotechnology, cell biology, genetics, and life... more The kingdom of fungi provides model organisms for biotechnology, cell biology, genetics, and life sciences in general. Only when their phylogenetic relationships are stably resolved, can individual results from fungal research be integrated into a holistic picture of biology. However, and despite recent progress, many deep relationships within the fungi remain unclear. Here, we present the first phylogenomic study of an entire eukaryotic kingdom that uses a consistency criterion to strengthen phylogenetic conclusions. We reason that branches (splits) recovered with independent data and different tree reconstruction methods are likely to reflect true evolutionary relationships. Two complementary phylogenomic data sets based on 99 fungal genomes and 109 fungal expressed sequence tag (EST) sets analyzed with four different tree reconstruction methods shed light from different angles on the fungal tree of life. Eleven additional data sets address specifically the phylogenetic position of Blastocladiomycota, Ustilaginomycotina, and Dothideomycetes, respectively. The combined evidence from the resulting trees supports the deep-level stability of the fungal groups toward a comprehensive natural system of the fungi. In addition, our analysis reveals methodologically interesting aspects. Enrichment for EST encoded data-a common practice in phylogenomic analyses-introduces a strong bias toward slowly evolving and functionally correlated genes. Consequently, the generalization of phylogenomic data sets as collections of randomly selected genes cannot be taken for granted. A thorough characterization of the data to assess possible influences on the tree reconstruction should therefore become a standard in phylogenomic analyses.