DOI: 10.1126/science.278.5343.1580. Variations on a Theme: Cataloging Human DNA Sequence Variation

Variations on a Theme: Cataloging Human DNA Sequence Variation

10.1126/science.278.5343.1580

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Bibliography

Collins, F. S., Guyer, M. S., & Chakravarti, A. (1997). Variations on a Theme: Cataloging Human DNA Sequence Variation. Science, 278(5343), 1580â1581.

Authors 3

Francis S. Collins (first)
Mark S. Guyer (additional)
Aravinda Chakravarti (additional)

References 26 Referenced 757

Collins F. S., Nature Genet.1, 3 (1992); (10.1038/ng0492-3) / Nature Genet. by Collins F. S. (1992)
Ballabio A., ibid. 3, 277 (1993); / ibid. by Ballabio A. (1993)
Collins F. S., ibid. 9, 347 (1995). / ibid. by Collins F. S. (1995)
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) (10.1038/368258a0)
N. Papadopoulos et al. Science 263 1625 (1994)] (10.1126/science.8128251)
the MODY1 MODY2 and MODY3 genes for diabetes [K. Yamagata et al. Nature 384 458 (1996) (10.1038/384458a0)
N. Vionnet et al. ibid. 356 721 (1992) (10.1038/356721a0)
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)].
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 [Puffenberger E. G. et al. Cell 79 1257 (1994)].
10.1126/science.274.5287.536
Lander E. S., Schork N. J., ibid.265, 2037 (1994). / ibid. by Lander E. S. (1994)
Risch N., Merikangas K., ibid.273, 1516 (1996). / ibid. by Risch N. (1996)
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. Grant et al. ibid. 14 203 (1996)] and a deletion in the gene for the chemokine receptor CCR5 and AIDS resistance [M. W. Smith et al. Science 277 959 (1997)].
Spielman R. , et al., Am. J. Hum. Genet.52, 506 (1993). / Am. J. Hum. Genet. by Spielman R. (1993)
Pastinen T. , et al., Genome Res.7, 606 (1997). (10.1101/gr.7.6.606) / Genome Res. by Pastinen T. (1997)
Shuber A. P. , et al., Hum. Mol. Genet.6, 337 (1997). (10.1093/hmg/6.3.337) / Hum. Mol. Genet. by Shuber A. P. (1997)
10.1126/science.1990438
10.1101/gr.4.6.357
10.1126/science.277.5333.1752
http://www.niehs.nih.gov/dirosd/policy/egp/.
Gerhold D., Caskey C. T., Bioessays18, 973 (1996). (10.1002/bies.950181207) / Bioessays by Gerhold D. (1996)
10.1126/science.274.5287.540
Kaiser J., Ed. ibid.271, 749 (1996). / ibid. by Kaiser J. (1996)
We thank E. Jordan and M. Boehnke for helpful discussions and J. Ades for help in preparing the figure.

Dates

Type	When
Created	23 years, 1 month ago (July 27, 2002, 5:45 a.m.)
Deposited	1 year, 7 months ago (Jan. 12, 2024, 11:51 p.m.)
Indexed	1 week ago (Aug. 20, 2025, 8:54 a.m.)
Issued	27 years, 8 months ago (Nov. 28, 1997)
Published	27 years, 8 months ago (Nov. 28, 1997)
Published Print	27 years, 8 months ago (Nov. 28, 1997)

Funders 0

None

BibTeX

@article{Collins_1997, title={Variations on a Theme: Cataloging Human DNA Sequence Variation}, volume={278}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.278.5343.1580}, DOI={10.1126/science.278.5343.1580}, number={5343}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Collins, Francis S. and Guyer, Mark S. and Chakravarti, Aravinda}, year={1997}, month=nov, pages={1580–1581} }

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