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

We report the nucleotide sequence of two goat beta-globin pseudogenes, psi beta X and psi beta Z, each of which is linked upstream from a functional goat beta-globin gene. Comparison to the functional beta 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 beta A and beta C genes reveal that the psi beta X-beta C pair and psi beta Z-beta 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.