HGP: Outcomes

HGP Facts
• Human genome is the largest genome to be
extensively sequenced
• A rough draft of the human genome was completed in
June 2000 and the final in 2003 (~$3Billion)
• 95% of DNA in human genome consists of non-coding
sequences
• Human DNA is 98% identical to chimpanzee DNA
• Average amount of difference between any two
humans is 0.2 percent, 99.8% similar
• Humans have approximately 30,000 genes
– Expected earlier 100,000
 HGP: Outcomes
Genome Size vs Number of Genes
Organism Genome Size Estimated
(Bases) Genes
Human (Homo sapiens) 3 billion 30,000
Laboratory mouse (M.
2.6 billion 30,000
musculus)

Mustard weed (A. thaliana) 100 million 25,000

Roundworm (C. elegans) 97 million 19,000

Fruit fly (D. melanogaster) 137 million 13,000
Yeast (S. cerevisiae) 12.1 million 6,000
Bacterium (E. coli) 4.6 million 3,200
Human immunodeficiency virus (HIV) 9700 9
 HGP: Outcomes
HGP Facts
Marked variation in the
distribution of;
• Genes
• Transposable
elements
• GC content
• CpG islands
• recombination rate
 HGP: Outcomes

Although about half of the human genome is derived from

transposable elements (45%), there has been a marked
decline in the overall activity of such elements in the
hominoid lineage
 HGP: Outcomes
• Segmental duplication is much more frequent in humans than
in yeast, fly or worm
• The mutation rate is about twice as high in male as in female
meiosis, showing that most mutation occurs in males
• Hundreds of human genes have resulted from horizontal
transfer from bacteria
• More than 1.4 million single nucleotide polymorphisms
(SNPs) have been identified
• Genes (or at least their coding regions) comprise only a tiny
fraction of the human DNA
• Small exons (encoding an average of only 50 codons)
separated by long introns (some exceeding 10 kb)
• This creates a signal-to-noise problem
 Characteristics of Human Genes
• Human genome Project explored some interesting
features in human genes
Median Mean
Internal exon 122 bp 145 bp
Exon number 7 8.8
Introns 1,023 bp 3,365 bp
3 UTR 400 bp 770 bp
5 UTR 240 bp 300 bp
Coding sequence 1,100 bp 1,340 bp
(CDS) 367 aa 447 aa
Genomic extent 14 kb 27 kb
HGP: Characteristics of Human Genes
HGP: Characteristics of Human Genes
HGP: Characteristics of Human Genes
HGP: Characteristics of Human Genes
HGP: Characteristics of Human Genes