Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.
Raquel Martinez RamosReginaldo José PetroliNathália Da Roz D' AlessandreGabriela Der Agopian GuardiaAna Caroline de Freitas AfonsoMirian Yumie NishiSorahia DomenicePedro Alexandre Favoretto GalanteBerenice Bilharinho MendoncaRafael Loch BastistaPublished in: The Journal of clinical endocrinology and metabolism (2023)
Our findings underscore a robust genotype-phenotype relationship regarding small indels in the AR gene in AIS, with a vast majority presenting CAIS. Triplets regions and homopolymeric runs emerged as prone loci for small indels within the AR. Most were frameshift indels, with polymerase slippage potentially explaining half of AR indel occurrences. Complex frameshift indels exhibited an association with palindromic runs. These discoveries advance our understanding of the genetic basis of AIS and shed light on potential mechanisms underlying pathogenic small indel events.