An olfactory receptor gene is located in the extended human β-globin gene cluster and is expressed in erythroid cells

Abstract

An olfactory receptor gene was identified near the 3' breakpoint of a naturally occurring deletion (HPFH-1) in the human β-globin gene cluster on chromosome 11p15.5. The gene encodes an amino acid sequence that is 40 to 51% identical to that of a set of olfactory receptors that have only recently been identified as a distinct family of receptors. There are two orthologous genes in the mouse that encode amino acid sequences that are 73 and 71% identical, respectively, to that encoded by the human gene. This olfactory receptor gene is expressed at the RNA level in human and murine erythroid cells at all stages of development. This aberrant expression is probably due to the location of the gene in the transcriptionally active chromatin domain of the extended β-globin gene cluster in erythroid cells.