Mounia Tannour-Louet and her colleagues show that 1–3% of cases of male genitourinary tract malformations are associated with increased copy number variations of the VAMP7 gene, which encodes a SNARE protein involved in vesicular transport. They show that overexpression of human VAMP7 in mice is sufficient to replicate the condition in this species and that the phenotype is due to alterations in the balance between androgen and estrogen signaling.
- Mounia Tannour-Louet
- Shuo Han
- Dolores J Lamb