Institut für Biologie

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    Identification of novel genes including NAV2 associated with isolated tall stature
    (2023) Weiss, Birgit; Ott, Tim; Vick, Philipp; Lui, Julian C.; Roeth, Ralph; Vogel, Sebastian; Waldmüller, Stephan; Hoffmann, Sandra; Baron, Jeffrey; Wit, Jan M.; Rappold, Gudrun A.
    Very tall people attract much attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth. We studied a three-generation pedigree with five isolated (non-syndromic) tall members and one individual with normal stature by whole exome sequencing; the tallest man had a height of 211 cm. Six heterozygous gene variants predicted as damaging were shared among the four genetically related tall individuals and not present in a family member with normal height. To gain insight into the putative role of these candidate genes in bone growth, we assessed the transcriptome of murine growth plate by microarray and RNA Seq. Two (Ift140, Nav2) of the six genes were well-expressed in the growth plate. Nav2 (p-value 1.91E-62) as well as Ift140 (p-value of 2.98E-06) showed significant downregulation of gene expression between the proliferative and hypertrophic zone, suggesting that these genes may be involved in the regulation of chondrocyte proliferation and/or hypertrophic differentiation. IFT140, NAV2 and SCAF11 have also significantly associated with height in GWAS studies. Pathway and network analysis indicated functional connections between IFT140, NAV2 and SCAF11 and previously associated (tall) stature genes. Knockout of the all-trans retinoic acid responsive gene, neuron navigator 2 NAV2, in Xenopus supports its functional role as a growth promotor. Collectively, our data expand the spectrum of genes with a putative role in tall stature phenotypes and, among other genes, highlight NAV2 as an interesting gene to this phenotype.
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    Integrative description of Temnothorax siculus sp. n.: a new ant species from Sicily, Italy (Hymenoptera, Formicidae)
    (2025) Schifani, Enrico; Alicata, Antonio; Prebus, Matthew M.; Csősz, Sándor; Schifani, Enrico; Department of Chemistry, Environmental Sustainability, and Life Sciences, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy; Alicata, Antonio; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy;; Prebus, Matthew M.; Social Insect Research Group, School of Life Sciences, Arizona State University, 550 E Orange St., Tempe, AZ 85281, USA;; Csősz, Sándor; HUN-REN-ELTE-MTM Integrative Ecology Research Group, Pázmány Péter ave 1/C, 1117 Budapest, Hungary; Fernández, Fernando; Guerrero, Roberto José
    The mostly Holarctic genus Temnothorax (Hymenoptera, Formicidae) is the most diverse ant genus in temperate regions. The Mediterranean, a biodiversity hotspot of rare ant species, hosts over 150 Temnothorax taxa, including several short-range endemics. Over the last few years, phylogenomic reconstructions and integrative taxonomy have significantly improved the understanding of global Temnothorax diversity, but much taxonomic work is still needed in the Mediterranean region. Here, we present the integrative description of a new species of the genus, discovered in the central Mediterranean island of Sicily: Temnothorax siculus sp. n. is defined and compared to congeneric species integrating morphometrics and phylogenomics. It is a ground-nesting, lowland species, of which workers were regularly observed foraging on bushes and small trees. In the global phylogeny, covering all the main lineages of the region, it belongs to the Palearctic clade and is related to the tuberum and unifasciatus complexes. Morphological separation from other Sicilian Temnothorax species can generally be achieved on qualitative characters, but we also provide morphometric discriminant functions to separate it from T. apenninicus and especially T. unifasciatus . Temnothorax siculus has been rarely collected but appears to be widespread in Sicily, and may occur in neighboring regions.