Science at the Edge Seminar

Speaker: James Noonan, Department of Genetics, Yale University

Title: Genetic Models of Human Evolution

Refreshments at 11:15 am.

Date: Fri, 31 Mar 2017, 11:30 am - 12:30 pm  

Type: Seminar

Location: 1400 BPS Bldg.

Uniquely human traits, such as the increased size and complexity of our brain, are encoded within the millions of genetic changes that distinguish us from other primates. Some of these changes, such as those located in Human Accelerated Regions (HARs), have been tentatively linked to human phenotypes. However, the precise role of these human-specific genomic changes in human traits remains elusive. This is because we lack two essential tools: the means to overcome the species barrier and employ the power of experimental genetics to study uniquely human genomic features in model organisms, and the ability to access and compare developmental processes in humans and other great apes. We will describe our recent work combining reverse genetic models of human-specific sequence changes with comparative analyses of primate development to identify the biological pathways, mechanisms, and cell types that were altered in our evolution.


  • Prabhakar S, Visel A, Akiyama JA, Shoukry M, Lewis KD, Holt A, Plajzer-Frick I, Morrison H, FitzPatrick DR, Afzal V, Pennacchio LA, Rubin EM, Noonan JP. (2008). Human-specific gain of function in a developmental enhancer. Science 321: 1346-50.
  • Cotney J, Leng J, Yin J, Reilly SK, DeMare LE, Emera D, Ayoub AE, Rakic P, Noonan JP. (2013). The evolution of lineage-specific regulatory activities in the human embryonic limb. Cell 154: 185-196.
  • Reilly SK, Yin J, Ayoub AE, Emera D, Leng J, Cotney J, Sarro R, Rakic P, Noonan JP (2015). Evolutionary changes in promoter and enhancer activity during human corticogenesis. Science347: 1155-9.