Fig. 2

Pathogenesis schemes of inherited disease in which lncRNA participate. a – Deletion of SNORD116 snoRNA cluster leads to the absence of sno-lncRNA which normally binds to FOX2 splicing factor. The absence of sno-lncRNA results in excess of free FOX2 and splicing alteration leading to Prader-Willi syndrome. b – in Alzheimer’s disease stress conditions lead to upregulation of BACE1-AS lncRNA. BACE1-AS forms an RNA duplex with BACE1 mRNA stabilizing it. As a result the level of BACE1 is increased, which is involved in the formation of amyloid plaques leading to disease progression. c – CAG repeat expansion in the Ataxin-7 gene in spinocelebellar ataxia type 7 leads to disruption of CTCF binding leading to SCAANT1 downregulation. SCAANT1 negatively regulates Ataxin-7 level and when SCAANT1 expression is decreased the level of cytotoxic Ataxin-7 is upregulated. d – Decrease in the number of D4Z4 repeats below 11 as a result of deletion leads to disruption of PcG binding to chromatin and transcription activation of DBE-T lncRNA occurs. DBE-T recruits Ash1L protein to chromatin, activating the transcription of nearby genes whose products possess high myopathic potential