Molecular Cloning and Characterization of a Novel Human Gene Containing Ankyrin Repeat and Double BTB/POZ Domain

Abstract

A novel human gene containing an ankyrin repeat and BTB/POZ domains (BPOZ) was isolated from a human leukocyte cDNA library. The cDNA sequence contains an open reading frame of 1434 bp that encodes 478 amino acid residues with a predicted molecular mass of 53.9 kDa. Sequence pattern analysis shows that BPOZ contains an N-terminal ankyrin repeat, a bipartite nuclear localization signal and two BTB/POZ domains. Using semiquantitative RT-PCR, the BPOZ transcript was found to be ubiquitously expressed in all fetal tissues examined (heart, brain, liver, and kidney) suggesting that BPOZ is involved in basic cellular function. Low expression of BPOZ in adult tissues (normal and hypertrophic heart) suggests that BPOZ mRNA is developmentally regulated and may play a role in developmental processes. Chromosomal localization by radiation hybrid mapping revealed that this gene is localized between D3S1269 and D3S3606 markers corresponding to the region of chromosome 3q21, a region frequently associated with leukemia. It is thus suggested that BPOZ may be functionally involved in protein-protein interaction, perhaps in forming protein complexes, and may have an important role in normal development and in the development of leukemia.