Homo sapiens cerebral organoids transcriptome. CNTN6 is involved in human cortical development.. Homo sapiens

Neurodevelopmental disorders represent a class of heterogeneous diseases with a significant genetic contribution, including pathologies resulting from copy number variations (CNVs). Recent advancements in genetic diagnostic technologies have led to the identification of new genes associated with neurodevelopmental disorders through CNVs. One such gene is CNTN6, mutations in which lead to mental retardation and autism spectrum disorders. However, the specific molecular and cellular mechanisms of this pathology remain elusive. Through various techniques of modeling human brain development pathologies, such as somatic cell reprogramming, cerebral organoid, and genome editing, we established that CNTN6 locus is involved in the lumenization and cell identity of radial glial cells, as well as in regulating their proliferation. Furthermore, we found that protein CNTN6 is involved in the nuclear-cytoplasmic translocation of PAX6 protein, a key regulator of forebrain development. Detailed molecular studies revealed that CNTN6 primarily functions through the Notch signaling pathway during the early stages of human brain development. Therefore, our findings indicate a previously unknown role of CNTN6 locus in the early stages of human cortex development.Here you can find transcriptome raw sequencing data of cerebral organoids for genotypes with mutations in CNTN6 gene and wild type data..