On the genetic basis of tail-loss evolution in humans and apes

Abstract The loss of the tail is among the most notable anatomical changes to have occurred along the evolutionary lineage leading to humans and to the ‘anthropomorphous apes’ 1–3 , with a proposed role in contributing to human bipedalism 4–6 . Yet, the genetic mechanism that facilitated tail-loss evolution in hominoids remains unknown. Here we present evidence that an individual insertion of an Alu element in the genome of the hominoid ancestor may have contributed to tail-loss evolution. We demonstrate that this Alu element—inserted into an intron of the TBXT gene 7–9 —pairs with a neighbouring ancestral Alu element encoded in the reverse genomic orientation and leads to a hominoid-specific alternative…

• HU
  Harvard University
• NY
  New York State Stem Cell Science

  Award: C322560GG
• NI
  National Institutes of Health

  Awards: P30CA016087, P01AG051449, R35GM119703, C322560GG, DP5OD033430
• NG
  NYU Grossman School of Medicine
• NI
  National Institute on Aging

  Award: P01AG051449
• NH
  National Human Genome Research Institute

  Award: RM1HG009491
• NC
  National Cancer Institute

  Award: P30CA016087