© 2000 by Kazusa DNA Research Institute
A Novel Gene, DSCR5, from the Distal Down Syndrome Critical Region on Chromosome 21q22.2
1Department of Virology, The Institute of Medical Science, University of Tokyo 4-6-1, Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
2Genomic Sciences Center, Institute of Physical and Chemical Research (RIKEN-GSC) 2-1, Hirosawa, Wako-shi, Saitama 351-0106, Japan
3Human Genome Center, The Institute of Medical Science, University of Tokyo 4-6-1, Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
* To whom correspondence should be addressed. Human Genome Center, The Institute of Medical Science, University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo 108-8639, Japan, Tel. +81-3-5449-5623, Fax. +81-3-5449-5445, E-mail: sakaki{at}ims.u-tokyo.ac.jp
Based on a detailed sequence of the distal Down syndrome critical region (DSCR), we predicted and molecularly cloned a novel gene, designated DSCR5. We determined the sequences of expressed sequence tags (ESTs) that almost matched the predicted cDNA sequence of DSCR5. Northern blot analysis showed that DSCR5 is expressed in several tissues including the liver, skeletal muscle, heart, pancreas and testis. To determine the 5'-end of DSCR5, the oligo-capping method was employed. Combining the EST sequence data and that from the oligo-capping experiments, we obtained the full-length cDNA sequence of DSCR5. DSCR5 had at least four types of alternatively spliced variants. According to the number of exons, they could be classified into two subtypes: DSCR5
1 and DSCR5ß. DSCR5 includes three splice variant subtypes, DSCR51, 2 and 3, which each has different first non-coding exon. In addition, the most abundantly isolated form, DSCR51, shows microheterogeneity of the mRNA start site. Comparison of the sequences between the predicted cDNA and the molecularly cloned cDNA revealed that the computer programs had limited validity to correctly predict the terminal exons. Thus, molecular cloning should always be required to complement the inadequacy of the computer predictions.
Key words: cDNA cloning; Down syndrome; oligo-capping
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