A NEW HUMAN GENE LOCATED IN THE PKD1 REGION OF CHROMOSOME-16 IS A FUNCTIONAL HOMOLOG TO ERV1 OF YEAST

A new human gene has been identified on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1) by analysis of a genomic cosmid clone and cDNAs. The gene contains at least one in tron and is actively transcribed in tissues from kidney and brain. The putative gene product is predicted to be homologous to the yeast scER V1 protein by virtue of the high degree of identity (42%) over the ent ire length of the polypeptides. In former studies the yeast scERV1 gen e was found to be essential for oxidative phosphorylation, the mainten ance of mitochondrial genomes, and the cell-division cycle. In this st udy a yeast expression vector with a chimeric reading frame coding for the first 21 amino acids of the yeast protein and the terminal 100 am ino acid residues of the human factor was transformed into yeast mutan ts with two different defects for scERV1. The chimeric human gene prod uct was able to complement the yeast mutants and restored near normal viability. This identifies the human gene as a structural and function al homologue of the scERV1 gene. (C) 1995 Academic Press, Inc.