Skrypkina I. Characterization of novel genes on human chromosome 21 and identification of their homologues in mouse

The object is studying of genes on human chromosome 21; dissertation is devoted to the analysis of three human genes which cDNAs have been previously mapped on the long arm of chromosome 21, identification and comparative analysis of their murine homologues in view of subsequent investigation of their role in Down Syndrome; the metods are screening of genomic and cDNA libraries, restriction analisys, cloning of the DNA fragments, Southern and Northern blots hybridizations, RT-PCR, DNA sequencing, the analysis of the resulting sequences by computer programs; novel cDNA sequences of murine arginine-N-methyltransferase 2 (HRMT1L1), novel nuclear protein (NNP-1) and intersectin 1 (ITSN1) were obtained, full nucleotide sequence of murine gene coding novel nuclear protein (NNP-1) has been detected, using cDNA and genomic sequences of genes under investigation and human and murine sequences presented in databases we determined the structures of human genes HRMT1L1, NNP-1, ITSN1 and their homologues in mouse, different levels of expression of human HRMT1L1 gene during embryogenesis in different tissues have been revealed by Northern blot analysis, it has been established that the level of expression of HRMT1L1 and NNP-1 genes is identical in normal and trisomic (Ts65Dn) murine tissues, which suggested that these genes are not important for Down Syndrome, new isoforms of murine and human ITSN1 genes transcripts have been discovered by RT-PCR, their developmental and tissue specificity has been shown; the field - Molecular Biology, Medicine