The Human Genome Project

  1: What is the public project for sequencing the human genome?
  2: Has the human genome been completely sequenced?
  3: How many genes do humans have?
  4: Why is it so difficult to find the genes in a human genome sequence?
  5: Where did the sequenced human DNA come from?
  6: Is the human genome “freely available”? If not, who owns it?
  7: Why was there a Human Genome Project What is its use?
  8: Who were the members of the international consortium What was the role of each of them?
  9: What was the French contribution to the Human Genome Project?
  10: How much did the Human Genome Project cost?
  11: With the end of the Human Genome Project, are the large sequencing centers still useful?

Genoscope, the only representative of France in the Consortium, chose to sequence the long arm of human chromosome 14 (the portion of the chromosome which is sequencable, and contains the genes; see above), which amounts to about 3% of the human genome. Chromosome 14 is depicted below as one of the 23 other human chromosomes.

In 2002, this sequencing effort resulted in a continuous sequence of 87 410 661 nucleotides which extends from one end of the sequencable portion of the long arm of chromosome 14 to the other. The results of the analysis of this sequence were published on January 1, 2003 in the journal Nature (see Press Release). This was the first human chromosome sequence to be published with no gaps, and at the moment of its publication, the longest DNA sequence ever determined. To get an idea of the progress accomplished in one decade, the sequencing of the yeast genome, which was finished in 1996, mobilized almost one hundred laboratories for 6 years; however the yeast genome consists of only 13 million nucleotides, compared with 87 million for human chromosome 14.

The scientists at Genoscope used their expertise in bioinformatics to identify the genes in the sequence of chromosome 14. To the 506 genes already known on this chromosome they added 344 other validated or “putative” genes. Furthermore, two regions which are very important for the immune system were caracterized. Almost 60 genes on chromosome 14 have already been implicated in genetic diseases. Since the beginning of the decade, sequencing progress has helped several groups to identify 6 new genes for genetic disorders on this chromosome, thus economizing several months’ work (see “What is the use of the Human Genome Project?” and “What is a genetic disease?”). Dozens of other “morbid” genes followed. In order for this research to succeed, it is important for the genes to be correctly delimited, and to have a complete inventory of the genes. The Genoscope scientists are constantly striving to perfect their annotation, and they even use tools to evaluate and improve the annotation of the ensemble of the human genome.