Retroviral and Pseudogene Insertion Sites Reveal the Lineage of Human Salivary and Pancreatic Amylase Genes from a Single Gene during Primate Evolution

Abstract

We have analyzed the junction regions of inserted elements within the human amylase gene complex. This complex contains five genes which are expressed at high levels either in the pancreas or in the parotid gland. The proximal 5′-flanking regions of these genes contain two inserted elements. A γ-actin pseudogene is located at a position 200 base pairs upstream of the first coding exon. All of the amylase genes contain this insert. The subsequent insertion of an endogenous retrovirus interrupted the γ-actin pseudogene within its 3′-untranslated region. Nucleotide sequence analysis of the inserted elements associated with each of the five human amylase genes has revealed a series of molecular events during the recent history of this gene family. The data indicate that the entire gene family was generated during primate evolution from one ancestral gene copy and that the retroviral insertion activated a cryptic promoter.