• motor neuron disease

Associated with nuclear RNP bodies called omega speckles, the long non-coding RNAs encoded by Dmel\lncRNA:Hsrω are described as arcRNAs (architectural RNA). arcRNAs are thought to function as an essential scaffold or platform of nuclear bodies. RNAi targeting constructs, alleles caused by insertional mutagenesis, and loss-of-function mutations caused by imprecise excision of TE insertions have been generated for lncRNA:Hsrω.

The role of this lncRNA in neural development has been investigated using neuron-specific RNAi targeted to lncRNA:Hsrω. Sufficient knockdown of lncRNA:Hsrω requires multiple copies of both a pan-neuronal driver and an RNAi construct; it results in progressive impairment of locomotion, neuroanatomy defects at larval neuromuscular junctions, and shortened lifespan. The observed phenotypes are similar to those observed in established fly models of neurodegenerative disease, including fly models of amyotrophic lateral sclerosis. Mutations of lncRNA:Hsrω have been investigated in the context of several Drosophila models for diseases caused by expanded CAG (polyQ) repeats (assayed for exacerbation or amelioration of the disease phenotype); see below and in the lncRNA:Hsrω gene report.

Many genetic and physical interactions have been reported for lncRNA:Hsrω, including with Dmel\caz, which is orthologous to the human gene implicated in amyotrophic lateral sclerosis 6 (see FBhh0000018), and with Dmel\TBPH, which is orthologous to the human gene implicated in amyotrophic lateral sclerosis 10 (see FBhh0000017). See below and in the lncRNA:Hsrω gene report.

[updated Mar. 2019 by FlyBase; FBrf0222196]