If Pygmies are known for one trait, it is their short stature¹: Pygmy men stand just 4'11" on average. But the reason why these groups are so short and neighboring groups are not remains² unclear. Scientists have proposed various theories based on natural selection, including that Pygmies' reduced size lowered nutritional³ requirements, helped them better handle hot climates, or allowed them to reach sexual maturity⁴ at an earlier age. Now a new study of the Western African Pygmies in Cameroon, led by geneticists from the University of Pennsylvania, identifies genes⁶ that may be responsible for the Pygmies' relatively⁷ small size.

The work also provides evidence based on genetic⁵ signatures of natural selection to suggest why these groups evolved to be small, with signs pointing to hormonal⁸ pathways and immune system regulation as possible drivers.

"There's been a longstanding（长期存在的） debate about why Pygmies are so short and whether it is an adaptation to living in a tropical environment," said Sarah Tishkoff, senior author on the study and a Penn Integrates Knowledge professor with appointments in the genetics department of the Perelman School of Medicine and in the biology department of the School of Arts and Sciences. "I think our findings are telling us that the genetic basis of complex traits like height may be very different in globally diverse populations."

While hundreds of studies have sought and identified genes that play a role in height variations in European populations -- nearly 180 such genes have been pinpointed⁹ -- this is the first genome-wide study of genes that contribute to stature（身高，身材） in African Pygmy populations.

"By performing a detailed¹⁰ genetic analysis, Dr. Tishkoff and her colleagues have identified many candidate genes that have played an adaptive role in Pygmy populations, including several related to stature," said Irene Eckstrand, who oversees¹¹ evolutionary¹²-biology grants at the National Institutes of Health's National Institute of General Medical Sciences, which partially¹³ funded the work. "This research illustrates¹⁴ the value of studying human traits in their evolutionary and ecological¹⁵ contexts for understanding how humans adapted to their local environments."

Tishkoff led the study with Joseph Jarvis, a Penn postdoctoral researcher at the time the study was conducted and now a senior research scientist at the Coriell Institute for Medical Research. Other Penn contributors included Laura Scheinfeldt, Sameer Soi, Charla Lambert, Bart Ferwerda and William Beggs of the Department of Genetics.

The Penn researchers collaborated¹⁶ with Larsson Omberg, Gabriel Hoffman and Jason Mezey of Cornell University; Alain Froment of the Musée de l'Homme in France; and Jean-Marie Bodo of the Ministère de la Recherche¹⁷ Scientifique et de l'Innovation in Cameroon.

Their paper was published April 26 in the journal PLoS Genetics.