Publications by authors named "J A Lukin"
is an X-linked RNA helicases that escapes X chromosome inactivation and is expressed at higher levels in female brains. Mutations in are associated with intellectual disability (ID) and autism spectrum disorder (ASD) and are predominantly identified in females. Using cellular and mouse models, we show that mediates sexual dimorphisms in brain development at a molecular, cellular, and behavioral level.
View Article and Find Full Text PDFEmerging X-linked genes associated with neurodevelopmental disorders in females.
Curr Opin Neurobiol
October 2024
A significant source of risk for neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism spectrum disorder (ASD), lies in genes located on the X chromosome. Males can be particularly vulnerable to X-linked variation because of hemizygosity, and male-specific segregation in pedigrees has guided earlier gene discovery for X-linked recessive conditions. More recently, X-linked disorders disproportionally affecting females, with complex inheritance patterns and/or presenting with sex differences, have surfaced.
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- Circular RNAs (circRNAs) are noncoding RNAs, and many have unknown biological functions due to challenges in studying them.
- This study specifically investigated circTulp4, a circRNA found in the brain, by creating a mouse model that lacks circTulp4 while preserving normal mRNA and protein levels.
- The findings show that circTulp4 is essential for proper brain function, influencing neurotransmission and responses to negative stimuli, highlighting the importance of circRNAs in neural regulation.
Article Synopsis
- A subset of circular RNAs (circRNAs) and linear RNAs can block microRNA activity, with some RNAs leading to microRNA degradation via a process called Target RNA-Directed MicroRNA Degradation (TDMD).
- In this study, researchers explored how the shape (circular vs. linear) of RNA targets impacts TDMD, finding that the circular RNA Cdr1as protects the microRNA miR-7, while an artificial linear version promotes its degradation.
- The findings suggest that RNA circularity significantly affects TDMD dynamics, influencing the stability and activity of specific microRNAs beyond just their nucleotide sequences.
The prognosis of children with acute myeloid leukemia (AML) has improved incrementally over the last few decades. However, at relapse, overall survival (OS) is approximately 40-50% and is even lower for patients with chemo-refractory disease. Effective and less toxic therapies are urgently needed for these children.
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