Environmental Effects on Gene Expression

The expression of some genotypes is critically dependent on the presence of a specific environment. For example, the himalayan allele in rabbits produces dark fur at the extremities of the body — on the nose, ears, and feet ( FIGURE 5.19). The dark pigment develops, however, only when the rabbit is reared at 25°C or less; if a Himalayan rabbit is reared at 30°C, no dark patches develop. The expression of the himalayan allele is thus temperature dependent — an enzyme necessary for the production of dark pigment is inactivated at higher temperatures. The pigment is normally restricted to the nose, feet, and ears of Himalayan rabbits because the animal's core body temperature is normally above 25°C and the enzyme is functional only in the cells of the relatively cool extremities. The himalayan allele is an example of a temperature-sensitive allele, an allele whose product is functional only at certain temperatures.

Some types of albinism in plants are temperature dependent. In barley, an autosomal recessive allele inhibits chlorophyll production, producing albinism when the plant is grown below 7°C. At temperatures above 18°C, a plant homozygous for the albino allele develops normal chlorophyll and is green. Similarly, among Drosophila melanogaster homozygous for the autosomal mutation vestigial, greatly reduced wings develop at 25°C, but wings near normal size develop at higher temperatures (see Figure 5.18).

Environmental factors also play an important role in the expression of a number of human genetic diseases. Glucose-6-phosphate dehydrogenase is an enzyme taking part in supplying energy to the cell. In humans, there are a number of genetic variants of glucose-6-phosphate dehy-drogenase, some of which destroy red blood cells when the body is stressed by infection or by the ingestion of certain drugs or foods. The symptoms of the genetic disease appear only in the presence of these specific environmental factors.

Another genetic disease, phenylketonuria (PKU), is due to an autosomal recessive allele that causes mental retardation. The disorder arises from a defect in an enzyme that normally metabolizes the amino acid phenylalanine. When this enzyme is defective, phenylalanine is not metabolized, and its buildup causes brain damage in children. A simple

5.19 The expression of some genotypes depends on specific environments. The expression of a temperature-sensitive allele, himalayan, m is shown in rabbits reared at different ■

temperatures.

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