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The total genetic information of a living thing, a complete copy of which is found in most somatic cells. The human genome (one copy of each chromosome and mitochodrial DNA) is made up of around 3,2000,000 chemical letters (nucelotide base pairs) of DNA.

 

Insights learned from the human genome sequence:

  • The human genome sequence is almost exactly the same (99.9%) in all people.
  • Repeat sequences that do not code for proteins make up at least 50% of the human genome.  
  • About 2% of the genome encodes instructions for the synthesis of proteins.
  • The total number of genes is estimated at 25,000, much lower than previous estimates of 80,000 to 140,000.
  • Chromosome 1 (the largest human chromosome) has the most genes (3,168), and Y chromosome has the fewest (344).
  • Genes appear to be concentrated in random areas along the genome, with vast expanses of noncoding DNA between.
  • The average gene consists of 3,000 base pairs, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million base pairs.
  • Functions are unknown for more than 50% of discovered genes.
  • Scientists have identified millions of locations where single-base DNA differences occur in humans. Research is finding DNA sequences associated with common diseases as cardiovascular disease, diabetes, arthritis, and cancers.

 

  • Humans have on average three times as many kinds of proteins as the fly or worm because of mRNA transcript "alternative splicing" and chemical modifications to the proteins. This process can yield different protein products from the same gene.
  • Humans share most of the same protein families with worms, flies, and plants, but the number of gene family members has expanded in humans, especially in proteins involved in development and immunity.
  • Over 40% of predicted human proteins share similarity with fruit-fly or worm proteins.

 Information from: http://www.ornl.gov/sci/techresources/Human_Genome/project/journals/insights.shtml

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