Alison G. Compton

Oct 16, 2024 | nature.com | Nicole J Lake |Kaiyue Ma |Stephanie L. Battle |Kenneth Ng |Alison G. Compton |John Christodoulou | +4 more

AbstractMitochondrial DNA (mtDNA) has an important yet often overlooked role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection and represent powerful tools for identifying genetic variation that underlies human phenotypes1,2,3,4. However, nuclear constraint models are not applicable to mtDNA, owing to its distinct features.

Jul 11, 2024 | nature.com | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Sarah Stenton |Susan Walker |Jenny Lord | +42 more

AbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2.