May 17, 2006

And now the fun begins...

The Human Genome Project has been quietly cranking away sequencing the Chromosomes of Homo Sap. since 1990. They just finished the last Chromosome. Reuters has the news:
Last chromosome in human genome sequenced
Scientists have reached a landmark point in one of the world's most important scientific projects by sequencing the last chromosome in the Human Genome, the so-called "book of life".

Chromosome 1 contains nearly twice as many genes as the average chromosome and makes up eight percent of the human genetic code.

It is packed with 3,141 genes and linked to 350 illnesses including cancer, Alzheimer's and Parkinson's disease.

"This achievement effectively closes the book on an important volume of the Human Genome Project," said Dr Simon Gregory who headed the sequencing project at the Sanger Institute in England.

The project was started in 1990 to identify the genes and DNA sequences that provide a blueprint for human beings.

Chromosome 1 is the biggest and contains, per chromosome, the greatest number of genes.
This last one took the team ten years to do... Here is the introduction to the Nature Paper.
The DNA sequence and biological annotation of human chromosome 1
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.
And I didn't count each and every one but it looks like there are about 170 co-authors listed. Lots of people working on an incredibly important and valuable work. The spin-offs from this will take three or four years to appear but they will be incredible. Good job! Posted by DaveH at May 17, 2006 8:38 PM
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