Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis
Authors' conclusion
Our findings underscore a robust genotype-phenotype relationship regarding small indels in the AR gene in AIS, with a vast majority presenting complete AIS. Triplet 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 association with palindromic runs. These discoveries advance understanding of the genetic basis of AIS and shed light on potential mechanisms underlying pathogenic small indel events.
Study context
- Population
- Individuals with androgen insensitivity syndrome (AIS) with small indels in the androgen receptor (AR) gene coding regionindels incl
- Participants
- 82 individuals
- Comparison
- AR coding-region small indels in AIS vs population controls
- AISn = 82
- Outcome
- Distribution, phenotype and mechanisms of AR small indels
Methodological detailsincludes 3 novel indels, comparison with genomic population data
- Includes 3 novel indels
- Comparison with genomic population data
Pooled result
As reported in the abstract
Small deletions
59.7%
Indels within triplet regions (most in nonrepetitive sequences)
15.8%
Original publication
Composed by AI from the published abstract and checked against it. How Briefs are made →