title: 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.
abstract: Previous studies show that humans have a large genomic deletion downstream of the Androgen Receptor gene that eliminates an ancestral mammalian regulatory enhancer that drives expression in developing penile spines and sensory vibrissae. Here we use a combination of large-scale sequence analysis and PCR amplification to demonstrate that the penile spine/vibrissa enhancer is missing in all humans surveyed and in the Neandertal and Denisovan genomes, but is present in DNA samples of chimpanzees and bonobos, as well as in multiple other great apes and primates that maintain some form of penile integumentary appendage and facial vibrissae. These results further strengthen the association between the presence of the penile spine/vibrissa enhancer and the presence of penile spines and macro- or micro- vibrissae in non-human primates as well as show that loss of the enhancer is both a distinctive and characteristic feature of the human lineage.
authors.affiliation: Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
authors.forename: Philip L
authors.initials: PL
authors.lastname: Reno
authors.affiliation: Department of Computer Science, Stanford University, Stanford, California, United States of America.
authors.forename: Cory Y
authors.initials: CY
authors.lastname: McLean
authors.affiliation: Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.
authors.forename: Jasmine E
authors.initials: JE
authors.lastname: Hines
authors.affiliation: Department of Developmental Biology, Stanford University School of Medicine, Stanford, California, United States of America.
authors.forename: Terence D
authors.initials: TD
authors.lastname: Capellini
authors.affiliation: Department of Computer Science, Stanford University, Stanford, California, United States of America ; Department of Developmental Biology, Stanford University School of Medicine, Stanford, California, United States of America.
authors.forename: Gill
authors.initials: G
authors.lastname: Bejerano
authors.affiliation: Department of Developmental Biology, Stanford University School of Medicine, Stanford, California, United States of America ; Howard Hughes Medical Institute, Stanford, California, United States of America.
authors.forename: David M
authors.initials: DM
authors.lastname: Kingsley
mesh_terms: D000818:Animals; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D053476:Extinction, Biological; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010413:Penis / Q000378:metabolism*; D011323:Primates / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D017421:Sequence Analysis; D013003:Somatosensory Cortex / Q000502:physiology; D013045:Species Specificity; D014738:Vibrissae / Q000378:metabolism* / Q000502:physiology
chemical_list: D011944:Receptors, Androgen