We find that the enhancer sequence is missing from all modern and extinct human genomes tested, but is present in all non-human primates examined, confirming that the enhancer deletion arose early in the human lineage and is not deleted in multiple primates that still retain penile spines and vibrissae.Īll human traces in the NCBI Trace Archives as of February 2011 were tested for their ability to align to the 4,839 base pair (bp) chimpanzee enhancer (panTro3.chrX:67,539,730-67,544,568) using LASTZ with the parameters T=0 W=6 Q=HoxD55.q K=1800 M=0 L=5400. To further examine whether loss of the penile spine/vibrissa enhancer is polymorphic in humans and other primates, we survey for the relevant enhancer sequences in large numbers of human individuals, the recently available Denisovan genome, a panel of chimpanzee and bonobo individuals, and in the genomes of gorillas, orangutans, gibbons, rhesus, marmoset, and bushbaby. In addition, although penile spines have also been reported both morphologically and histologically in chimpanzees, the structures are rarely studied and could conceivably be polymorphic in chimpanzees or other ape lineages. Some researchers have speculated that PPP could be evolutionary vestiges of penile spines. Thus, there exists strong correlative evidence that loss of these structures is related to this genomic deletion that occurred in the human lineage since our divergence from chimpanzees.Īlthough humans are usually described as lacking penile spines, a significant fraction of human males develop small white papules on the penis, variably known as Tyson's glands, papillae of the penis, acral angiofibromas, and pearly penile papules (PPP). Interestingly, both penile spines and vibrissae are structures that, while present in chimpanzees, macaques, and mice, are missing in humans. Androgen signaling is known to play a key role in development of both structures as castration or mutational inactivation of the AR gene results in and the loss of penile spines in rodents and primates and reduced growth of vibrissae in male mice. The orthologous enhancer from both species consistently drives gene expression in penile spines and vibrissae in transgenic mice. This deletion (hCONDEL.569) removes an otherwise highly conserved mammalian enhancer located 218 kb and 300 kb from the AR transcriptional start sites of chimpanzees and mice, respectively. We previously reported that humans have an approximately 60 kilobase (kb) genomic deletion located downstream of the Androgen Receptor (AR) gene on the X chromosome. The rapid accumulation of sequence information from many species is making it possible to search for genomic events associated with lineage-specific phenotypes. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Ĭompeting interests: The authors have the following interests. The University of Louisiana at Lafayette New Iberia Research Center is funded by NIH NCRR (RR015087, RR014491, RR016483). is an investigator of the Howard Hughes Medical Institute (). is a Packard Fellow () and Microsoft Research Fellow () and D.M.K. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.įunding: This work was funded in part by a Center for Excellence in Genomic Sciences grant (5P50HG2568) from the National Institutes of Health (nih.gov). Received: SeptemAccepted: NovemPublished: December 19, 2013Ĭopyright: © 2013 Reno et al. PLoS ONE 8(12):Įditor: Roscoe Stanyon, University of Florence, Italy Citation: Reno PL, McLean CY, Hines JE, Capellini TD, Bejerano G, Kingsley DM (2013) A Penile Spine/Vibrissa Enhancer Sequence Is Missing in Modern and Extinct Humans but Is Retained in Multiple Primates with Penile Spines and Sensory Vibrissae.
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