The Human Genome Project: Medical Implication:

The human genome project was initiated in 1990 and carried out by many scientific institutions worldwide. The project was publicly funded with $300 million with the initial goal of completion in 15 years (Coghlan and Boyce, 2000) However, with the engagement of the private genomic company Celera a race to completely sequence human genome was raised resulting in the acceleration of the project. Discoveries through this project were expected to provide insights into human genome structure and its molecular biology, human evolutionary history, medical application and many other fields. The human genome is the largest vertebrate genome so far to be extensively sequenced (International Human Genome Sequencing Consortium (IHGSC), 2001)

Preliminary results of the Human Genome Project were publicly announced by Bill Clinton, president of United states; Francis Collins, the Head of Human Genome Project; and Craig Venter, the founder of Celera on June 26, 2000 (Coghlan and Boyce, 2000). In the paper, discoveries were introduced to understand human genetics and genome with medical implication in addition.

Human genome and genetics

Human genome contains about 3.1 billion base-pair with the small difference between the public and private groups (Coghlan and Boyce, 2000).. A 2.91-billion base pair sequence of the euchromatic part of the human genome (Venter, et al., 2001), equal to more than 96% of that part (IHGSC, 2001), is confirmed. A little portion of human genome is to accommodate exon sequences (1.1%) while introns contribute 24% and intergenic DNA or "junk" DNA is the major part of human genome (75%) (Venter, et al., 2001)

Table 1. Partial summary of sequencing human genome.

Chromosome

Amount of sequenced base-pairs

Annotated genes

Pseudo-genes

1¹

223,875,858

3,141

991

2²

237 million

1,346

1,239

3³

199,344,050

1,463

122

4²

186 million

796

778

5⁴

177.7 million

923

577

6⁵

166,880,988

1,577

633

7⁶

More than 153 million

1,150

941

8⁷

144,556,489

793

301

9⁸

109,044,351

1,149

426

10⁹

131,666,441

927

430

11¹⁰

131,130,853

1,524

765

12¹¹

132,449,811

1,324

93

13¹²

95,564,076

633

296

14¹³

87,410,661

1,050

393

15¹⁴

81,871,010

695

250

16¹⁵

78,884,754

899

344

17¹⁶

78,839,971

1,266

274

19¹⁷

55.8 million

1,461

321

20¹⁸

59,187,298

727

168

21²⁹

33,546,361

225

59

X²⁰

151,005,926

1,098

173

Y²⁰

?

76

?

1 Gregory, et al., 2006. 6. Hillier, et al., 2003. 11. Scherer, et al., 2006

2 Hillier, et al., 2005. 7. Nusbaum, et al., 2006. 12. Dunham, et al., 2004
3 Muzny, et al., 2006. 8. Humpray, et al., 2004. 13. Heilig, et al., 2003

4 Schmutz, et al., 2004. 9. Deloukas, et al., 2004. 14. Zody, et al., 2006

5 Mungall, et al., 2003. 10. Taylor, et al., 2006. 15. Martin, et al., 2004

16. Zody, et al., 2006

17. Grimwood, et al., 2004

18. Deloukas, et al., 2001

19. Hattori, et al., 2000

20. Ross, et al. 2005

The research consortium estimates about 30,000-40,000 protein-coding genes in the human genome, which only double the gene number in worm and fly. However, the genes found in humans are more complex, with more alternative splicing producing a larger quantity of protein products per gene (IHGSC, 2001). Hundreds of these appear likely to derive from bacterial gene transfer at some time in the vertebrate lineage. Dozens appear to have been derived from transposable elements.

Sources Cited:

Deloukas, P., et al. (2001). The DNA sequence and comparative analysis of human

chromosome 20. Nature 414: 865-871.

Deloukas, P.,et al. (2004). The DNA sequence and comparative analysis of human

chromosome 10. Nature 429: 375-382.

Dunham, A., et al. (2004). The DNA sequence and analysis of human chromosome 13.

Nature 428:522-528.

Gregory, S.G., et al. (2006). The DNA sequence and biological annotation of human

chromosome 1. Nature 441, 315-321.

Grimwood, J., et al. (2004). The DNA sequence and biology of human chromosome 19.

Nature 428: 529-625.

International Human Genome Sequencing Consortium. (2001). Initial sequencing and analysis of

the human genome. Nature 409: 860-921.