AR (Androgen receptor)
The androgen receptor (AR) is a nuclear receptor that binds testosterone or dihydrotestosterone. AR is responsible for the development and function of both male and female sexual organs and the development of both primary and secondary male sexual characteristics. A human lineage specific 60.7 kb deletion upstream of AR removed a regulatory region that when investigated in transgenic mouse embryos resulted in loss of expression of AR in sensory vibrissae and penile spines. As humans lack both of these characteristics this regulatory DNA loss is a likely candidate.
Human-specific loss of regulatory DNA and the evolution of human-specific traits., , Nature, 2011 Mar 10, Volume 471, Issue 7337, p.216-9, (2011)
Molecular insights into androgen actions in male and female reproductive function from androgen receptor knockout models., , Hum Reprod Update, 2010 Sep-Oct, Volume 16, Issue 5, p.543-58, (2010)