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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

Recurrent involvement of chromosomal region 6q21 in heterotaxy

TL;DR: The present observation suggests additional heterogeneity in heterotaxy in humans, and it is speculated that the two breakpoints lead to the disruption of the function of a single gene, either directly or through long distance effects.
Journal ArticleDOI

A new approach to genome mapping and sequencing: slalom libraries

TL;DR: Since the efficiency of contig assembly in the slalom approach is virtually independent of length of sequence reads, even short sequences produced by rapid, high throughput sequencing techniques would suffice to complete a physical map and a sequence scan of a small genome.
Journal ArticleDOI

Vertebrate patatin-like phospholipase domain-containing protein 4 (PNPLA4) genes and proteins: a gene with a role in retinol metabolism

TL;DR: PNPLA4 is an ancient gene in evolution which has resulted from a duplication of an ancestral invertebrate ATGL-like gene (encoding adipose triglyceride lipase) and exhibited wide tissue expression at a higher than average level.
Journal ArticleDOI

Defining a common region of DNA amplification at 22q11.2-12 in head and neck squamous cell carcinomas by quantitative FISH analysis.

TL;DR: The definition of the common region with the highest level of copy number increases by FISH provides a starting point for identifying the gene that may play an important role in the development of HNSCC.
Journal ArticleDOI

Accelerating discoveries in the proteome and genome with MALDI TOF MS.

TL;DR: This review is intended to illustrate how matrix-assisted laser desorption/ionisation (MALDI) time-of-flight (TOF) MS is typically used to generate information about biomolecules under investigation.
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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