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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 novel insulinoma tumor suppressor gene locus on chromosome 22q with potential prognostic implications.

TL;DR: The observed high frequency of chromosome 22q12 deletions in insulinomas is suggestive for a region compatible with harboring a tumor suppressor gene, and the hSNF5/INI1 gene is most likely not the candidate gene, because no alterations could be identified.
Journal ArticleDOI

Frequency and coverage of trinucleotide repeats in eukaryotes.

TL;DR: Possible constraints in tri-repeat expansion seem to be structural and conserved along the evolutionary scale: a motif-specific relaxation of the relevant controls may be responsible for the occasional expansions found in mouse and man.
Journal ArticleDOI

Manhattan versus Reykjavik

Alison Abbott
- 27 Jul 2000 - 
TL;DR: Where is it best to hunt for genes that underlie cancer and heart disease?
Journal ArticleDOI

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.

TL;DR: ACGH is demonstrated to be an equivalent methodology to telomere FISH for detecting submicroscopic deletions and small duplications that are not easily visible by FISH can be accurately detected using aCGH.
Journal ArticleDOI

Genome and protein evolution in eukaryotes

TL;DR: The past year has seen the completion of the genome sequence of the flowering plant Arabidopsis thaliana and the initial sequence reports of the human genome, revealing a huge diversity of gene content within eukaryotic genomes, reflecting different functional demands in different species.
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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