Human Chromosome 21 Gene Annotation I: Evolutionary Conservation and Organizational Features

Katheleen Gardiner
Eleanor Roosevelt Institute
1899 Gaylord Street
Denver, CO 80206 USA
telephone: 1-303-336-5652
fax: 1-303-333-8423
prestype: Platform
presenter: Katheleen Gardiner

Katheleen Gardiner and Dobromir Slavov

Analysis of the recently completed genomic sequence of human chromosome 21 (Hattori et al 2000) identified ~225 genes and gene models. Analysis of the evolutionary conservation of these genes and investigation of gene-specific organizational features can be expected to aid in functional determinations and in understanding regulation of gene expression.With these goals in mind, we have carried out several analyses. i) Protein sequences of 122 of the 225 genes/models showing similarity to complete proteins or protein domains of experimentally verified function were divided among 20 broad functional catagories; such classifications are useful but can be limited, misleading and/or only marginally informative. ii) A search with chromosome 21 mRNA sequences of the complete sequences of Drosophila, C.elegans and S.cerevisiae identified >60, >45 and >30 homologous genes, respectively, in each organism; Drosophila, in particular, provides interesting opportunities for further mutational analyses. iii) A similar search for orthologous genes in mouse identified >125 candidates; interestingly, more than 25% of these show strong, gene-specific conservation in untranslated regions. iv) A search of the protein and draft sequence databases showed that a number of chromosome 21 genes have homologues elsewhere in the human genome; this suggests interesting possibilities for overlapping expression patterns and functions that may have broad implications for research in Down syndrome and other chromosome 21 associated diseases. Lastly, analysis of expression patterns and regulation have revealed uncommon features of gene structures, including antisense transcripts, overlapping genes and possible non-coding RNAs.

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