Variations on a theme: Cataloging human DNA sequence variation

Science

Volumn 278, Issue 5343, 1997, Pages 1580-1581

  Collins, Francis S ^a   Guyer, Mark S ^a   Chakravarti, Aravinda ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA SEQUENCE; GENE ASSIGNMENT; GENETIC DISORDER; GENETIC RISK; GENOTYPE; HEREDITY; HUMAN; MEDICAL GENETICS; PRIORITY JOURNAL; SHORT SURVEY;

BASE SEQUENCE; DATABASES, FACTUAL; DNA; GENETIC DISEASES, INBORN; GENETIC MARKERS; GENOME, HUMAN; HUMANS; INTELLECTUAL PROPERTY; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 0030688004     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.278.5343.1580     Document Type: Short Survey

References (33)

1. F.S. Collins, Nature Genet. 1, 3 (1991); A. Ballabio, ibid. 3, 277 (1993); F. S. Collins, ibid. 9. 347 (1995).
2. F.S. Collins, Nature Genet. 1, 3 (1991); A. Ballabio, ibid. 3, 277 (1993); F. S. Collins, ibid. 9. 347 (1995).
3. F.S. Collins, Nature Genet. 1, 3 (1991); A. Ballabio, ibid. 3, 277 (1993); F. S. Collins, ibid. 9. 347 (1995).
4. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
5. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
6. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
7. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
8. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
9. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
10. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
11. Prominent successes of this approach include the BRCA1 [Y. Miki et al., Science 266, 66 (1994)] and BRCA2 [Wooster et al., Nature 378, 789 (1995)] genes for breast and ovarian cancer; the DNA mismatch repair genes for hereditary nonpolyposis colon cancer (HNPCC) [C.E. Bronner et al., Nature 368, 258 (1994); N. Papadopoulos et al., Science 263 (1994)]; the MODY1, MODY2, and MODY3 genes for diabetes [K. Yamagata et al., Nature 384, 458 (1996); N. Vionnet et al., ibid. 356, 721 (1992); K. Yamagata et al., ibid. 384, 455 (1996)]; and six genes involved in salt and water metabolism in families with syndromic hereditary hypertension [R. P. Lifton, Science 272, 676 (1996)].
12. A mutation in the endothelin receptor B gene, which is one of several genes leading to Hirschsprung disease with a complex phenotype in Mennonites, was identified within such a shared segment [E. G. Puffenberger et al., Cell 79, 1257 (1994)].
13. E. S. Lander, Science 274, 536 (1996).
14. _ and N. J. Schork, ibid. 265, 2037 (1994).
15. N. Risch and K. Merikangas, ibid. 273, 1516 (1996).
16. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
17. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
18. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
19. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
20. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
21. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
22. Classic examples of the success of this strategy are the human leukocyte antigen complex and a long list of autoimmune diseases such as type 1 diabetes [G.T. Nepom and H. Ehrlich, Annu. Rev. Immunol. 9, 493 (1991)]. More recently, examples of disease associations have been found between the ApoE4 allele and Alzheimer's disease [W. J. Strittmatter and A. D. Roses, Annu. Rev. Neurosci. 19, 53 (1996)], the Factor V Leiden variant and venous thrombosis [J. Voorberg et al., Lancet 343, 1535 (1994) and B. Zoller et al., ibid., p. 1536], a promoter polymorphism in the insulin gene and type I diabetes [S. T. Bennett et al., Nature Genet. 9, 284 (1995)], an Sp1 binding site in the first intron of the COL1A1 gene and osteoporosis [S. F. A. Grant et al., ibid. 14, 205 (1996)], and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al., Science 277, 959 (1997)].
23. R. Spielman et al., Am. J. Hum. Genet. 52, 506 (1993).
24. T. Pastinen et al., Genome Res. 7, 606 (1997).
25. A. P. Shuber et al., Hum. Mol. Genet. 6, 337 (1997).
26. S. P. Fodor et al., Science 251, 767 (1991).
27. K. J. Livak et al., PCR Methods Appl. 4, 357 (1995).
28. E. Marshall, Science 277, 1752 (1997).
29. http://www.niehs.nih.gov/dirosd/policy/egp/
30. D. Gerhold and C.T. Caskey, Bioessays 18, 973 (1996).
31. G. D. Schuler et al., Science 274, 540 (1996).
32. J. Kaiser, ed., ibid. 271, 749 (1996).
33. We thank E. Jordan and M. Boehnke for helpful discussions and J. Ades for help in preparing the figure.