Molecular Analysis of the Genes Involved in Cardiac Defects

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To isolate novel genes involved in the morphogenesis of heart, we performed exon trapping and genomic sequencing of the DNA contigs of human chromosomes 21 and 22. We also employed cDNA screening of heart cDNA library. We have isolated several novel genes from chromosome 21 including SIM (single-minded), MNB (minibrain), KNP (keio novel protein)1, KNP3, KNP4 and so on. In collaboration with Professor Antonarakis, we found two SIM genes, SIM1 and SIM2, and determined their genomic structures and tissue expresseion patterns. The SIM genes are thought to be functioning as trascription factors during the brain development. We found a cDNA clone which is expressed only in the heart of embryos but its entire structure is not yet unveiled. In collaboration with Professor McDermid, we detected a new gene which is a human homolog of mouse Bid2 gene which is believed to regulate certain cell types during the morphogenesis of heart. Thus, we have made a good progress for the past two years. Moreover, we were able to isolate another new gene AIRE which is responsible for the pathogenesis of an autoimmune disease APECED.The AIRE gene produces a pathogenesis of an autoimmune disease APECED.The AIRE gene produces a transcription factor which seems to play a role in regulating the maturation process of immune response. this finding was made in collaboration with Professors Antonarakis and Krohn. We had a mini-symposium on the autoimune disease by inviting these two professors and their research fellows to exchange ideas together with 70 audiences. During their stay, we had fruitful discussion and determined future directions of our collaboration.