Team of prof. Kris Vleminckx contributes to the discovery of important genes involved in the development of limbs and lungs

Novel research published in Nature describes the importance of novel genes for limb and lung development and revises the understanding of the biological process of how limbs and lungs develop in humans.

Clinical geneticists from different countries studied families with limb and/or lung malformations and found that mutations in the RSPO2 gene cause incomplete limb development, and that RSPO2 is a master switch that governs limb development.

The team of CRIG group leader prof. Kris Vleminckx collaborated in the study with their unique expertise in genome editing in the frog model organism Xenopus. They were able to show that absence of RSPO2 prevents limb development, and demonstrated for the first time the importance of two other RSPO-interacting genes (ZNRF3 and RNF43) for normal limb formation.

the team of prof. Vleminckx, this was a unique opportunity to demonstrate the power of genome editing (via CRISPR-Cas9) in non-mammalian vertebrates. Genes can be disrupted in the Xenopus model in a fast and efficient manner, allowing to rapidly screen candidate genes linked to rare genetic diseases as well as cancer. Indeed, the recent findings also have important implications in cancer research, since mutations in the genes RSPO2, RNF43 and ZNRF3 can also cause colorectal cancer. Hence, the knowledge on how limbs are formed in humans might lead to novel therapeutic opportunities for cancer patients.

Link to the full article in Nature