Two related pseudogenes are the result of a gene duplication in the goat β-globin locus

We report the nucleotide sequence of two goat β-globin pseudogenes, ψβ x and ψβ z, each of which is linked upstream from a functional goat β-globin gene. Comparison to the functional β A gene indicates that these two pseudogenes share several identical mutations. These include alterations of the ATA box, an early frameshift mutation in exon 1 and alterations of the universal GT/AG excision sequence of IVS1. The shared deleterious mutations indicate that the two pseudogenes diverged from a common defective sequence. Comparison of the pseudogenes with the functional β A and β C genes reveals that the ψβ x- β C pair and ψβ Z- β A pair may have been created by a single en bloc duplication event. The persistence and duplication of defective sequences may indicate a role for these pseudogenes as a spacer or regulator.