Question: Part D – Predicting the effects of different mutations on sex
development You recognize that Athl…
Part D – Predicting the effects of different mutations on sex
development You recognize that Athlete 2 may have one of several
possible defects in the AR signaling pathway. For the molecular
defects listed below, predict what their effects would be on AR
signaling and ultimately on the development of the genitalia.
Labels may be used once, more than once, or not at all.
Show transcribed image text Molecular defect Effect on AR signaling pathway Effect on development Testes do not develop; no testosterone is made Functions normally Normal male development AR-testosterone complexes cannot form; AR-regulated target genes not transcribed None AR-testosterone complexes enter the nucleus; AR-regulated target genes not transcribed Amino acid substitution in the AR that prevents testosterone binding AR-testosterone complexes enter the nucleus; AR-regulated target genes are transcribed at reduced levels Amino acid substitution in the AR that partially reduces testosterone binding XY individual develops as anatomically female without internal testes Amino acid substitution in the AR that prevents DNA binding XY individual develops as anatomically female with internal testes XY individual develops witlh partially masculinized genitalia and internal testes Amino acid substitution in the AR that partially reduces DNA binding reset? help
Molecular defect Effect on AR signaling pathway Effect on development Testes do not develop; no testosterone is made Functions normally Normal male development AR-testosterone complexes cannot form; AR-regulated target genes not transcribed None AR-testosterone complexes enter the nucleus; AR-regulated target genes not transcribed Amino acid substitution in the AR that prevents testosterone binding AR-testosterone complexes enter the nucleus; AR-regulated target genes are transcribed at reduced levels Amino acid substitution in the AR that partially reduces testosterone binding XY individual develops as anatomically female without internal testes Amino acid substitution in the AR that prevents DNA binding XY individual develops as anatomically female with internal testes XY individual develops witlh partially masculinized genitalia and internal testes Amino acid substitution in the AR that partially reduces DNA binding reset? help
