Completed annotation of human chromosome 1 published in Nature

J.W. Bizzaro • May 18, 2006

Completed annotation of human chromosome 1 published in Nature

This has been in the news today. It appears in the 18 May 2006 edition of Nature. Abstract:

``The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.''

The full article is online, no subscription needed:
http://www.nature.com/nature/journal/v441/n7091/full/nature04727.html

It's been about 6 and a half years since the completion of chromosome 22, the first to be sequenced, and about 6 years since the completion of chromosome 21, the smallest (chromosome 1 is the largest):
http://bioinformatics.org/forums/forum.php?forum_id=71

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