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    Hum Mutat. 2005 Mar;25(3):319.

    Two novel mutations of the AIRE protein affecting its homodimerization properties.

    Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC.

    Istituto di Neurogenetica e Neurofarmacologia, National Research Council, Cagliari, Italy.

    We report two novel mutations, c.230T>C (p.F77S) and c.64_69del (p.V22_D23del) within the HSR domain of the AIRE protein in two patients of Italian descent affected by APECED. Both mutations were found in the compound heterozygous state respectively with c.994+5G>T and c.232T>A (p.W78R). With the two-hybrid assay in the yeast system we found that constructs containing the two mutations fail to interact with the wild-type protein. These findings indicate that both mutations negatively affected the homodimerization properties of the AIRE protein, thereby leading to a defective function. (c) 2005 Wiley-Liss, Inc.

    PMID: 15712268 [PubMed - indexed for MEDLINE]

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