The DNA sequence of human chromosome 22

Abstract

Knowledge of the complete genomic DNA sequence of an organism allows a systematic approach to defining its genetic components. The genomic sequence provides access to the complete structures of all genes, including those without known function, their control elements, and, by inference, the proteins they encode, as well as all other biologically important sequences. Furthermore, the sequence is a rich and permanent source of information for the design of further biological studies of the organism and for the study of evolution through cross-species sequence comparison. The power of this approach has been amply demonstrated by the determination of the sequences of a number of microbial and model organisms. The next step is to obtain the complete sequence of the entire human genome. Here we report the sequence of the euchromatic part of human chromosome 22. The sequence obtained consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.

Genomic Exploration of the Hemiascomycetous Yeasts: 3. Methods and strategies used for sequence analysis and annotation

“…the sequences of Neisseria meningitidis [57], D. radiodurans [58], Drosophila melanogaster [59], chromosomes 2 and 4 from Arabidopsis thaliana [60,61], chromosomes 2 and 3 from Plasmodium falciparum [62,63], and chromosomes 21 and 22 from Homo sapiens [64,65] that were recently reported. For the few cases of homologies to these organisms, refer to [37^49].…”

Long-Range Heterogeneity at the 3′ Ends of Human mRNAs

“…We visualized the complex relationships between the genome and full-length mRNAs, ESTs, and 3Ј tags in the ACEDB environment (Durbin and Thierry-Mieg 1994). For chromosomes 21 and 22, which have been extensively annotated, we included the transcripts identified by the sequencing consortia (Dunham et al 1999;Hattori et al 2000); most of the examples described here were taken from chromosome 21, because they illustrate the additional information gained by using our methods relative to existing genome annotation procedures. We also developed a program called the Transcriptome Analyzer (tromer; C. Iseli, unpublished data) that uses the transcript to genome alignments to identify exon boundaries and analyzes the connectivity of these boundaries.…”

Timing and mechanism of ancient vertebrate genome duplications – the adventure of a hypothesis

“…This fourfold difference and the observed 1:4 relationship between many Drosophila and human genes (1:4 rule) [15][16][17] was an additional argument in favor of two rounds of WGD under the assumption that no subsequent gene loss had happened. The estimation that the human genome might contain as few as 25 000 genes [18][19][20][21][22] signaled that if there had been WGDs, they must have been followed by extensive gene loss; therefore, finding evidence for old duplications might not be as straightforward as originally thought.…”