Pseudogenes

The globin gene superfamily provides an interesting example of the generation of both functional and nonfunctional duplicated genes (Figure 3). Based on nucleotide sequence data, it appears that a gene duplication occurred about 600 to 800 million years ago, yielding myoglobin and hemoglobin genes. Another duplication of the hemoglobin gene occurred about 500 million years ago, yielding α-globin and β-globin genes. (Adult human hemoglobin contains two α and two β strands.) These are all functional genes, found on three different human chromosomes. The α-globin and β-globin genes further duplicated, yielding both pseudogenes and functional genes. Possession of more than one globin gene provides a selective advantage because it compensates for the variation of oxygen in the prenatal versus postnatal environment.

The α-globin gene cluster consists of three functional genes and three pseudogenes. There is also an additional gene that is expressed but not incorporated into a hemoglobin molecule. In other words, this would be an example of an expressed pseudogene. The β-globin gene complex consists of five functional genes and one pseudogene. Examples of other processed polypeptide-encoding pseudogenes include those derived from actin, ferritin, and glyceraldehyde 3-phosphate dehydrogenase genes.