Some alleles have multiple phenotypic effects

Mendel’s principles were further extended when it was discovered that a single allele can influence more than one phenotype. In such a case, we say that the allele is pleiotropic. An example is the heritable human disease phenylketonuria, which causes mental retardation and reduced hair and skin pigmentation. The disease occurs in people who have a mutation in the gene for a liver enzyme that converts the amino acid phenylalanine to tyrosine. Without a functional form of this enzyme, phenylalanine builds up in the body to toxic levels, and this affects development in a variety of ways. Given what we now know about genes and their functions, it is not surprising that a gene with such an important metabolic role should have pleiotropic effects. Other examples of pleiotropy include plant and animal genes whose products affect hormone levels, since many hormones play multiple roles in the body.