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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

Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more
- 15 Feb 2001 - 
TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Journal ArticleDOI

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 - 
TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Journal ArticleDOI

The Human Genome Browser at UCSC

TL;DR: A mature web tool for rapid and reliable display of any requested portion of the genome at any scale, together with several dozen aligned annotation tracks, is provided at http://genome.ucsc.edu.
Journal ArticleDOI

BLAT—The BLAST-Like Alignment Tool

TL;DR: How BLAT was optimized is described, which is more accurate and 500 times faster than popular existing tools for mRNA/DNA alignments and 50 times faster for protein alignments at sensitivity settings typically used when comparing vertebrate sequences.
Journal ArticleDOI

Initial sequencing and comparative analysis of the mouse genome.

Robert H. Waterston, +222 more
- 05 Dec 2002 - 
TL;DR: The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.
References
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Journal ArticleDOI

Structure and alternative splicing of the gene encoding α1G, a human brain T calcium channel α1 subunit

TL;DR: Molecular diversity generated by alternative splicing and post-translational modification of this and other members of the T alpha1 subunit gene family may account for the observed heterogeneity of T currents in central neurons.
Journal ArticleDOI

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

TL;DR: The results show that the instability of the 22q11 region is not restricted to humans but may have been present throughout evolution and underscore the importance of detailed comparative mapping of genes in mice and humans as a prerequisite for the development of mouse models of human diseases involving chromosomal rearrangements.
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Integration of telomere sequences with the draft human genome sequence

TL;DR: This work uses specialized linear yeast artificial chromosome clones, each carrying a large telomere-terminal fragment of human DNA, to integrate most human telomeres with the working draft sequence, indicating that human subtelomeric regions are not simply buffers of nonfunctional ‘junk DNA’ next to the moleculartelomere, but are instead functional parts of the expressed genome.
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Identification of the gene-richest bands in human chromosomes.

TL;DR: An improved protocol for in situ hybridization and cloned H3 isochore DNA is used, showing that the number of bands which are characterized by strong hybridization signals, and which are here called T or H3+, is 28 and that H3+ and H3* bands contain all the gene-richest isochores of the human genome.
Journal ArticleDOI

A high-density YAC contig map of human chromosome 22

TL;DR: A high-resolution clone map of human chromosome 22 is constructed which integrates the available physical and genetic information, establishing a single consensus and represents the practical limits of currently available YAC resources.
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