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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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Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.

TL;DR: Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochchleosaccular degeneration) remain to be elucidated.
Journal ArticleDOI

Advances in Radiotherapy and Implications for the Next Century: A Historical Perspective

TL;DR: The use of ionizing radiation for the treatment of cancer dates back to the late 19th century, remarkably soon after Roentgen described X-rays in 1895 and the use of brachytherapy after Marie and Pierre Curie discovered radium in 1898.
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A question of size: the eukaryotic proteome and the problems in defining it

TL;DR: The problems in defining the extent of the proteomes for completely sequenced eukaryotic organisms, focusing on yeast, worm, fly and human, are discussed, and the current estimates for the numbers of human genes are surveyed and a range for the size of the human proteome is estimated.
Journal ArticleDOI

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

TL;DR: Combination of WES with traditional approaches, consistent with linkage analysis, has had the greatest impact on those disorders following autosomal mode of inheritance; in more than 60 identified genes, the causal variants have been transmitted at homozygous or compound heterozygous state.
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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