Article
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
Cell reports - 26 Mar 2024
Ushiki Aki, Sheng Rory R, Zhang Yichi, Zhao Jingjing, Nobuhara Mai, Murray Elizabeth, Ruan Xin, Rios Jonathan J, Wise Carol A, Ahituv Nadav
Abstract excerpt
Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A genome-wide association study identified a female-specific AIS susceptibility locus near the PAX1 gene. Here, we use mouse enhancer assays, three mouse enhancer knockouts, and subsequent phenotypic analyses to characterize this region. Using mouse enhancer assays, we characterize...
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