PHF2, a novel PHD finger gene located on human Chromosome 9q22

We have isolated and characterized a novel PHD finger gene, PHF2, which map s to human Chromosome (Chr) 9q22 close to D9S196. Its mouse homolog was als o characterized and mapped to the syntenic region on mouse Chr 13. The pred icted human and mouse proteins are 98% identical and contain a PHD finger d omain, eight possible nuclear localization signals, two potential PEST sequ ences, and a novel conserved hydrophobic domain. Northern analysis shows wi despread expression of PHF2 in adult tissues, while in situ hybridization o n mouse embryos reveals staining in the neural tube and dorsal root ganglia significantly above a ubiquitous low level expression signal. From its exp ression pattern and its chromosomal localization, PHF2 is a candidate gene for hereditary sensory neuropathy type I, HSN1.