The contigs are connected into scaffolds, shown in red, by pairing end sequences, which are also called mates. If there is a gap between consecutive contigs, it has a known size. Next, the scaffolds are mapped to the genome gray line using sequence tagged site STS information, represented by blue stars.
Figure 6: How to sequence DNA. This step produces a mixture of newly synthesized DNA strands that differ in length by a single nucleotide. C The DNA mixture is separated by electrophoresis. D The electropherogram results show peaks representing the color and signal intensity of each DNA band.
From these data, the sequence of the newly synthesized DNA strand is determined, as shown above the peaks. Dennis, C. Used with permission. Panel B shows nine newly synthesized DNA strands. Each of the strands differs in length by a single nucleotide and is labeled at the 3' end with a fluorescently-labeled ddNTP base.
Panel C shows the electrophoresis results. The DNA strands have been separated by size and appear as columns of colored bands. Panel D shows the electropherogram results, which are a series of colored peaks, with red representing T, black representing G, blue representing C, and green representing A. Shown above the peaks is the DNA sequence. From Rough Draft to Final Form. During this phase, the researchers filled in gaps and resolved DNA sequences in ambiguous areas that were not solved during the shotgun phase.
The final form of the human genome contained 2. Furthermore, the IHGSC reduced the number of gaps by fold; only gaps out of , gaps remained. The remaining gaps were associated with technically challenging chromosomal regions.
Although the earlier draft publications had predicted as many as 40, protein-encoding genes, the finishing phase reduced this estimate to between 20, and 25, protein-encoding genes.
Future challenges identified by the IHGSC during this phase included the identification of polymorphisms as a platform for understanding genetic links to human disease , the identification of functional elements within the genome genes, proteins, elements involved in gene regulation , and structural elements , and the identification of gene and protein "modules" that act in concert with one another. From Digital Information to Molecular Medicine. One particularly striking finding of the Human Genome Project research is that the human nucleotide sequence is nearly identical However, a single nucleotide change in a single gene can be responsible for causing human disease.
Because of this, our knowledge of the human genome sequence has also contributed immensely to our understanding of the molecular mechanisms underlying a multitude of human diseases. Furthermore, a merging of cytogenetic approaches with the human genome sequence will continue to propel our understanding of human disease to an entirely new level.
Thus, although it was met with skepticism at its inception, the Human Genome Project will certainly be heralded as one of the most important scientific endeavors of our time. Within a span of only 13 years, an amalgam of public and private researchers was able to successfully complete the Human Genome Project.
Although these scientists used a number of different methods in their work, they nonetheless obtained the same results. In doing so, the researchers not only silenced their critics, but they also beat their own estimated project timeline by two entire years.
Perhaps even more importantly, these scientists inspired an ongoing revolution in our fight against human disease and provided a new vision of the future of medicine-although that future has yet to be fully realized.
References and Recommended Reading Hood, L. The digital code of DNA. Nature , — link to article Venter, J. Article History Close.
Share Cancel. Revoke Cancel. Keywords Keywords for this Article. Save Cancel. Flag Inappropriate The Content is: Objectionable. Flag Content Cancel. Email your Friend. John Sulston and Bob Waterston led the way for the Human Genome Project after they successfully sequenced the genome of the nematode worm, Caenorhabditis elegans, the first animal to be sequenced. If you have any other comments or suggestions, please let us know at comment yourgenome. Can you spare minutes to tell us what you think of this website?
Open survey. In: Facts Animals and Plants. A single-stranded RNA virus that infects the family of bacteria that includes E. Why was it sequenced? This was the first genome to be completely sequenced. How many bases? A bacteriophage virus that attacks bacteria containing a single circle of DNA. This was the first DNA-based genome to be sequenced. Who sequenced it? A non-moving rod-shaped bacterium that causes meningitis.
This was the first bacteria to be sequenced. A heat-loving, methane-producing, single-celled organism. This was the first archaeon to be sequenced. She hopes that future human genome sequences will cover everything, including the newly sequenced sections — not just the parts that are easy to read. This should be easier now that the reference genome has been completed and some of the technical snags have been worked out.
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