Geneticists at the US National Institute of Environmental Sciences have discovered a gene that causes some people to be born without a nose. The results of the research have been published magazine Science Advances.
This condition is called aronia. This is a rare congenital anomaly in which there are no nostrils and no entrance to the nasal cavity. This condition develops if a lumen has not formed in the olfactory placode during embryonic development. Previously, scientists did not know the genetic basis of this disease.
In the new study, the scientists used cells from people with aronia to analyze their genomes. They also examined healthy embryonic cells in which the SMCHD1 gene, a mutation that causes shoulder-blade-facial muscular dystrophy, has been disabled. Previously, scientists assumed that this gene was responsible for the absence of a nose.
As a result, it turned out that embryonic cells with a disability gene lost the ability to group into clusters. In addition, the DUX4 gene was activated in them due to the interruption of the process of transferring DNA into RNA form. According to scientists, all this can lead to aronia. Their discovery will help develop new strategies to predict this anomaly and prevent it in the future.