News about PHD fingers

PHD fingers have been identified in several new genes related to human disease!

December 1997 Nagamine et al. (1997) and A Finnish-German APECED Consortium (1997) have identified a novel gene AIRE (AutoImmune REgulator) located on chromosome 21q22.3 which is mutated in Autoimmune polyglandular syndrome type I (APS 1, also called APECED). The protein encoded by the AIRE gene carries two PHD fingers and several LXXLL-motifs. The function of the protein is unknown.
The AIRE protein also has a SAND domain just N-terminally to the PHD fingers (Gibson et al. 1998). We speculate that the SAND domain may be a DNA binding domain.

October 1997 Gibbons et al. (1997) and Gibbons et al. (1995) have recently identified mutations in the PHD finger of the ATRX gene as the most likely cause of the Alpha-Thalassemia/mental Retardation syndrome, X-linked (ATR-X). The ATRX gene encodes a protein with two PHD fingers and a putative helicase domain. The function of the protein is unknown.
April 1998 Cardoso et al. (1998) finds that the PHD-finger/Helicase ATRX interacts with the E(z) homologue, EZH2 - see also my E(z) web-pages .
June 1998 Wade et al. (1998) (Curr. Biol. 8:843-846.) shows that a Xenopus homologue of the Mi-2 protein is part of a multiprotein complex which contains in addition: Rpd3, RbAp48/p46 and copurifies with a histone deacetylase activity. Mi-2 has two PHD fingers, two chromo domains and a putative "DNA helicase"-like ATPase domain. Mi-2 was identified as an autoantigen in dermatomyositis.













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This page was created by Rein Aasland, December 9. 1997. Last updated July 7. 1998.