Biology subjects

Schlebusch, S. A.

Publications and source records attributed to Schlebusch, S. A..

5 recordsLinked to original sources

bioRxiv2026

Functional characterization of bat limb regulatory elements

Bats are the only mammals capable of powered flight and roost head-down. However, the molecular changes shaping bat limbs remain largely unknown. Here, we used comparative functional genomics coupled with mouse-bat sequence swaps to identify key regulatory elements important in bat limb development. We generated and compared bat and mouse forelimb and hindlimb genomic datasets at key wing developmental timepoints, followed by mouse enhancer assays to characterize sequences showing differences between species. We then swapped six mouse enhancer sequences with their corresponding bat sequences, obtaining a variety of bat limb associated phenotypes, including ossification delay, longer digits, thicker skin and symmetrical hindlimb digits. Our work provides a genomic catalog of genes and regulatory elements involved in bat limb development and through extensive characterization in mice shows how changes in regulatory elements lead to small phenotypic changes that together contribute to bat limb development.

developmental biology↗

bioRxiv2026

Transcriptional regulation of the response to water availability in the resurrection plant Xerophyta elegans

Vegetative desiccation tolerance (VDT) has evolved independently across vascular plants, but its genetic basis remains poorly understood. Although VDT is associated with expansion of the ELIP gene family, the contribution of other lineage-specific expansions is unclear. We assembled genomes for Xerophyta elegans and Xerophyta humilis, identifying expanded gene families largely involved in chlorophyll metabolism and abscisic acid-mediated stress responses. Using a dense dehydration-rehydration transcriptome series in X. elegans seedlings, we reconstructed the regulatory network underlying VDT. Transcription factors from the ABF, ZAT and HSFC families were associated with early responses to desiccation. Key regulators of the seed maturation programme, including NAC transcription factors (ATAF1 and ANAC032), DOG genes and the trihelix factor ASIL1, were also implicated. These findings indicate that VDT arises through integration of abiotic stress signalling with rewiring of the seed maturation network, enabling desiccation tolerance in vegetative tissues.

plant biology↗

bioRxiv2026

Stable but turbulent: the two faces of the germline-restricted chromosome of passerine birds

Germline-restricted chromosomes (GRCs) are essential, supernumerary chromosomes that undergo programmed elimination in somatic cells and are only retained in the germline. Despite their recurrent emergence across animals, their genetic composition, function and evolution remain poorly understood. Here we present the most complete and contiguous GRC assemblies, including one nearly telomere-to-telomere GRC assembly, from four closely related passerine bird species, providing an unprecedented insight into the GRCs composition and its evolution over short evolutionary timescales. We show that the passerine GRC is highly enriched in repetitive sequences, with massive, species-specific satellite expansions resulting in enormous differences in GRC size among species. Among mostly recently added sequences, we found only two ancestral genes dating back to the presumed GRC origin, offering clues to its essential function. Importantly, we demonstrate that the GRC undergoes extensive fine-scale within-chromosome rearrangements and copy number changes resulting in little collinearity between species. Our findings indicate that programmed DNA elimination has profoundly changed the GRCs evolution by altering the selection pressures and mutational mechanisms it is exposed to. This makes the GRC an extraordinarily dynamic element in an otherwise stable avian karyotype, retaining core functions while diversifying rapidly, with important implications for germline biology, adaptive evolution and speciation.

evolutionary biology↗

bioRxiv2025

Programmed DNA elimination drives rapid genomic innovation in two thirds of all bird species

Bird genomes are among the most stable in terms of synteny and gene content across vertebrates. However, germline-restricted chromosomes (GRCs) represent a striking exception where programmed DNA elimination confines large-scale genomic changes to the germline. GRCs are known to occur in songbirds (oscines), but have been studied only in a few species of Passerides such as the zebra finch, the key model for passerine genomics. Their presence and evolutionary dynamics in most major passerine lineages remain largely unexplored, with suboscines entirely unexamined by cytogenetic or genomic methods. Here, we present the most comprehensive comparative analysis of GRCs to date, spanning 44 million years of passerine evolution. By generating the first germline reference genomes of an oscine and a suboscine, 22 novel germline draft genomes spanning nearly all major passerine lineages and a germline draft genome of a parrot outgroup, we show that the GRC is likely present in 6,700 passerine species. Our results reveal that the GRC evolves rapidly and distinctly from the standard A chromosomes (autosomes and sex chromosomes), yet retains functionally important, selectively maintained genes. We observed gene and repeat turnover occuring orders of magnitude faster than on the A chromosomes. Some GRC genes, such as cpeb1 and pim1, are widespread from an ancient duplication. In contrast, other GRC genes, like mfsd2b and bmp15, have been independently duplicated onto the GRC multiple times, suggesting adaptive constraints. The discovery of zglp1 on the zebra finch GRC, initially copied from chromosome 30 and subsequently lost from it, indicates functional replacement, where the GRC permits gene loss from the standard genome. As the GRC harbors the only zglp1 copy in most of the [~]4000 Passerides species, GRC loss would compromise essential germline functions. Our findings establish the GRC as a genomic innovator driving rapid germline evolution. This fact highlights its evolutionary significance for passerine diversification and suggests that programmed DNA elimination may be an overlooked yet phylogenetically widespread mechanism in many understudied animal lineages.

genomics↗

bioRxiv2025

Germline-restricted chromosome of songbirds has different centromere compared to regular chromosomes

Centromeres are an important part of chromosomes which direct chromosome segregation during cell division. Their modifications can therefore explain the unusual mitotic and meiotic behaviour of certain chromosomes, such as the germline-restricted chromosome (GRC) of songbirds. This chromosome is eliminated from somatic cells during early embryogenesis and later also from male germ cells during spermatogenesis. Although the mechanism of elimination is not yet known, it is possible that it involves a modification of the centromeric sequence on the GRC, resulting in problems with the attachment of this chromosome to the mitotic or meiotic spindle and its lagging during anaphase, which eventually leads to its elimination from the nucleus. However, the repetitive nature and rapid evolution of centromeres make their identification and comparative analysis across species and chromosomes challenging. Here, we used a combination of cytogenetic and genomic approaches to identify the centromeric sequence of two closely related songbird species, the common nightingale (Luscinia megarhynchos) and the thrush nightingale (L. luscinia). We found a 436-bp satellite repeat present in the centromeric regions of all regular chromosomes, making it a strong candidate for the centromeric repeat. This centromeric repeat was highly similar between the two nightingale species. Interestingly, hybridization of the probe to this satellite repeat on meiotic spreads suggested that this repeat is missing on the GRC. Our results indicate that the change of the centromeric sequence may underlie the unusual inheritance and programmed DNA elimination of the GRC in songbirds.

genomics↗