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Information × Registration Number 0206U009242, 0101U009210 , R & D reports Title Regulation of gene expression: alternative transcripts in leukemia and Down syndrome popup.stage_title Head Rynditch Alla Volodymyrivna, Доктор біологічних наук Registration Date 27-12-2006 Organization Institute of molecular biology & genetics popup.description2 Structure of human intersectin 1 gene, mapped on chromosome 21 and encoded evolutionary conserved adapter protein involved in clathrin-mediated endocytosis, cell signaling and regulation of actin rearrangement, was defined and characterized. In view of investigation mouse model of Down syndrome we determined the structural of mouse homologue of Itsn1 gene. The investigation revealed 16 novel splice variants of Itsn1 transcripts both, in human and in mice. The expression of alternatively spliced isoforms in normal tissues, as well as in tissues of human embryo with chromosome 21 trisomy (Down syndrome), was analyzed. Brain and development-specific expression of Itsn1 isoforms with exon 20 was found. Besides, Itsn1 isoforms without SH3C domain showed higher level of expression in brain of embryo with trisomy of chromosome 21. Northern-blot hybridization revealed 1,5-2 fold increase of Itsn1 expression Down syndrome. Analysis of transcription of alpha-globin gene domain in leukemic showed presence of giant domain alpha-globin transcripts which include all the genes and intergenic regions and is part of the nuclear matrix. Product Description popup.authors popup.nrat_date 2020-04-02 Close