NUCLEIC ACID MOLECULE ENCODING A (POLY)PEPTIDE CO-SEGREGATING IN MUTATED FORM WITH AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)

摘要

The present invention relates to a nucleic acid molecule encoding a (poly)peptide co-segregating in mutated form with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). In addition, the invention relates to a mammalian, preferably murine, homologue of the above nucleic acid molecule. The present invention further relates to a nucleic acid molecule deviating by at least one mutation from the nucleic acid molecule described above wherein said mutation co-segregates with APECED and is an insertion, a deletion, a substitution and/or an inversion, and wherein said mutation further results in a loss or a gain of function of the (poly)peptide encoded by said mutated nucleic acid molecule. Furthermore, the present invention relates to a vector comprising the nucleic acid molecules described above and to a host transformed with said vector. In addition, the present invention relates to a process of recombinantly producing a (poly)peptide encoded by the nucleic acid molecules described above comprising culturing or raising said host and isolating said (poly)peptide from said culture or said host. The present invention further relates to the (poly)peptide encoded by said nucleic acid molecules or produced by the process described above. Additionally, the present invention relates to an antibody that specifically recognizes said (poly)peptides. Moreover, the present invention relates to a method for testing for a carriership for APECED or for a corresponding disease state comprising testing a sample obtained from a prospective patient or from a person suspected of carrying a predisposition for a mutation in the wild-type nucleic acid molecule described above or a mutated form of the (poly)peptide encoded by said mutated nucleic acid molecule in an immuno-assay using the antibody described above.