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Genetic models are biological systems which allow the study of genetic phenomena. For example, certain pure-bred dog varieties may serve as a model for investigating genetic bottlenecks.
Roberts syndrome (RBS) is an autosomal recessive disorder with profound growth deficiency and limb reduction caused by ESCO2 loss-of-function variants. Here, the authors show that the pathogenesis of limb reduction in an Esco2 cohesinopathy mouse model of Roberts syndrome has an underlying vascular etiology that is mediated by p53-signaling, sharing commonality with thalidomide embryopathy.
The use of automated tools to reconstruct lipid metabolic pathways is not warranted in plants. Here, the authors construct Plant Lipid Module for Arabidopsis rosette using constraint-based modeling, demonstrate its integration in other plant metabolic models, and use it to dissect the genetic architecture of lipid metabolism.
Assembling egg cells involves cytoplasmic and nuclear processes that together enable embryonic development. A study now defines a set of transcription factors required for cytoplasmic, but not key nuclear, processes.