Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Reexamination Certificate
2005-10-04
2005-10-04
Carlson, Karen Cochrane (Department: 1653)
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
C435S325000, C435S320100, C435S069100, C435S070100, C435S440000, C514S04400A
Reexamination Certificate
active
06951928
ABSTRACT:
APECED (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) is the only described systemic autoimmune disease with monogenic background. We have isolated a novel polynucleotide in chromosome 21q22.3 and identified five different mutations APECED patients originating from different populations. We named polypeptide, which is encoded by the said polynucleotide, APGD1 (i.e., autoimmune polyglandular disease type 1). The APGD1 polypeptide consists of 545 amino acid residues comprising two Cys(4)-His-Cys(3) double-paired finger motif similar to the PHD finger domains (zinc finger-like motifs). The identification of the polynucleotide facilitates direct genetic diagnosis of APECED and provides tools for dissection of the molecular pathogenesis of the disease.
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Aaltonen Johanna
Björses Petra
Horelli-Kuitunen Nina
Lehrach Hans
Palotie Aarno
Carlson Karen Cochrane
DLA Piper Rudnick Gray Cary US LLP
Liu Samuel W.
National Public Health Institute
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