Browsing by Subject "Genetic disease"

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Studies of human genetic diseases and developmental processes with the frog Xenopus laevis
(2020) Ott, Tim; Blum, Martin
Next generation sequencing is a driving force behind the identification of genes and alleles that are suspected to cause human genetic diseases. In silico tools are routinely used in the clinical everyday life to characterize unknown genotypes. However, these tools have a limited predictive accuracy and can only provide a first-line assessment. Especially un- or less studied genes require in every case predictive in vivo model systems that allow conclusions about disease associations. Classically, mice and zebrafish are utilized for such research, which concomitantly deepens the understanding of the involved developmental processes. In this collection of studies, the African clawed frog Xenopus laevis was used to explore and promote its suitability for the analysis of potential human disease genes, variants and their associated developmental processes. The first chapters covers potential candidate genes for primary ciliary dyskinesia (PCD). The second chapter addresses if an actin based motor protein and a novel metzincin peptidase, encoded by myosin ID (MYO1D) and leishmanolysin like peptidase (LMLN2)/tout-de-travers (TDT), respectively, are potentially causative for PCD independent laterality defects. The third chapter deals with two candidates for neurodevelopmental disorders, namely hyaluronan mediated motility receptor (HMMR) and progesterone immunomodulatory binding factor 1 (PIBF1).