PHF2, a novel PHD finger gene located on human chromosome 9q22.
We have isolated and characterized a novel PHD finger gene, PHF2, which maps to human Chromosome (Chr) 9q22 close to D9S196. Its mouse homolog was also characterized and mapped to the syntenic region on mouse Chr 13. The predicted human and mouse proteins are 98% identical and contain a PHD finger domain, eight possible nuclear localization signals, two potential PEST sequences, and a novel conserved hydrophobic domain. Northern analysis shows widespread expression of PHF2 in adult tissues, while in situ hybridization on mouse embryos reveals staining in the neural tube and dorsal root ganglia significantly above a ubiquitous low level expression signal. From its expression pattern and its chromosomal localization, PHF2 is a candidate gene for hereditary sensory neuropathy type I, HSN1.
Hasenpusch-Theil
K
K
Molecular Analysis of Mammalian Mutation, Imperial Cancer Research Fund, London WC2A 3PX, UK.
Chadwick
B P
BP
Theil
T
T
Heath
S K
SK
Wilkinson
D G
DG
Frischauf
A M
AM
D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003001:Cloning, Molecular; D018076:DNA, Complementary; D018398:Homeodomain Proteins; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D019913:Nuclear Localization Signals; D011506:Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
D018076:DNA, Complementary; D018398:Homeodomain Proteins; D019913:Nuclear Localization Signals; C117905:PHF2 protein, human; D011506:Proteins