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Open AccessJournal ArticleDOI

The DNA sequence of human chromosome 22

Ian Dunham, +223 more
- 02 Dec 1999 - 
- Vol. 402, Iss: 6761, pp 489-495
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TLDR
The sequence of the euchromatic part of human chromosome 22 is reported, which 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.
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.

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Journal ArticleDOI

A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility.

TL;DR: In an outstanding piece of sleuthing, Maria Karayiorgou and colleagues now show that genetic variation in proline dehydrogenase on human chromosome 22q11 is a likely and significant cause of schizophrenia.
Journal ArticleDOI

Genetic Abnormalities of Chromosome 22 and the Development of Psychosis

TL;DR: Although a number of genes have been implicated as possible schizophrenia susceptibility loci, further confirmatory studies are required, and compelling evidence that haploinsufficiency of TBX1 is likely to be responsible for many of the physical features associated with the deletion is provided.
Journal ArticleDOI

Cloning, chromosome mapping and functional characterization of a human homologue of murine gtse-1 (B99) gene.

TL;DR: GTSE-1 is reported as the human functional homologue of murine Gtse-1, a wt-p53 inducible gene that encodes a microtubule-localized protein which is able to induce G(2)/M phase accumulation when ectopically expressed.
Journal ArticleDOI

Genes, isochores and bands in human chromosomes 21 and 22.

TL;DR: The recently available DNA sequences from chromosomes 21 and 22 enabled the relationships of different band types with isochores and with gene concentration to be defined and to compare these relationships with previous results to indicate the human genome contains about 30,000 genes.
References
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Journal ArticleDOI

Basic Local Alignment Search Tool

TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
Journal ArticleDOI

tRNAscan-SE: a program for improved detection of transfer RNA genes in genomic sequence.

TL;DR: A program is described, tRNAscan-SE, which identifies 99-100% of transfer RNA genes in DNA sequence while giving less than one false positive per 15 gigabases.
Journal ArticleDOI

The Complete Genome Sequence of Escherichia coli K-12

TL;DR: The 4,639,221-base pair sequence of Escherichia coli K-12 is presented and reveals ubiquitous as well as narrowly distributed gene families; many families of similar genes within E. coli are also evident.
Journal ArticleDOI

Prediction of Complete Gene Structures in Human Genomic DNA

TL;DR: A general probabilistic model of the gene structure of human genomic sequences which incorporates descriptions of the basic transcriptional, translational and splicing signals, as well as length distributions and compositional features of exons, introns and intergenic regions is introduced.
Journal ArticleDOI

The SWISS-PROT protein sequence data bank and its supplement TrEMBL in 1999.

TL;DR: The Human Proteomics Initiative (HPI), a major project to annotate all known human sequences according to the quality standards of SWISS-PROT, is described.
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