EDAR and other genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the proper formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
A point mutation in EDAR, 370A, found in most East Asians but not common in African or European populations, is thought to be responsible for a number of differences between these populations, including the thicker hair, more numerous sweat glands, smaller breasts, and dentition characteristic of East Asians. The difference in dentition was not visible in mice due to the radically different structure of mice from human teeth, but it is considered reasonable that that difference also is due to the mutation. The 370A mutation arose in humans approximately 30,000 years ago, and now is found in 93% of Han Chinese and in the majority of people in nearby Asian populations.
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