Science, Space and Technology News 2024
Model showing the interaction between a portion of the AFF3 protein and ubiquitin ligase , the protein that regulates its degradation. Amino acids mutated in KINSSHIP syndrome patients are shown as yellow atoms. The ubiquitin ligase amino acids with which they interact are depicted as colored atoms. Credit: Nicolas Guex © UNIL
A team of scientists presents a major step forward in the detection of a rare genetic disease. For the first time, the researchers show that both the accumulation and the deficiency of the so-called AFF3 protein are detrimental to development. The research was led by Alexandre Reymond, an expert in human genetics at the Center for Integrative Genomics and professor at the Faculty of Biology and Medicine of the University of Lausanne .
“In our previous study we demonstrated that this pathology resulted from an abnormal accumulation of the AFF3 protein. Meanwhile, available genetic data from individuals of the general population suggested that a lack of this same protein could be similarly deleterious,” explains Dr. Sissy Bassani, a postdoctoral researcher in Professor Reymond’s team and the lead author of the current study.
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