The CpG dinucleotide and human genetic disease

CpG-rich islands and the function of DNA methylation

Bird, A. P. (1986) · Nature · doi:10.1038/321209a0 · Cited by 3,777

CpG Islands in vertebrate genomes

Gardiner-Garden, M., & Frommer, M. (1987) · Journal of Molecular Biology · doi:10.1016/0022-2836(87)90689-9 · Cited by 3,353

Molecular basis of base substitution hotspots in Escherichia coli

Coulondre, C., Miller, J. H., Farabaugh, P. J., & Gilbert, W. (1978) · Nature · doi:10.1038/274775a0 · Cited by 1,193

DNA methylation and the frequency of CpG in animal DNA

Bird, A. P. (1980) · Nucleic Acids Research · doi:10.1093/nar/8.7.1499 · Cited by 1,175

Enzymatic Synthesis of Deoxyribonucleic Acid

Josse, J., Kaiser, A. D., & Kornberg, A. (1961) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64321-2 · Cited by 753

A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA

Bird, A., Taggart, M., Frommer, M., Miller, O. J., & Macleod, D. (1985) · Cell · doi:10.1016/0092-8674(85)90312-5 · Cited by 712

DNA methylation affects the formation of active chromatin

Keshet, I., Lieman-Hurwitz, J., & Cedar, H. (1986) · Cell · doi:10.1016/0092-8674(86)90263-1 · Cited by 588

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

BARKER, D., SCHAFER, M., & WHITE, R. (1984) · Cell · doi:10.1016/0092-8674(84)90081-3 · Cited by 573

Use of restriction enzymes to detect potential gene sequences in mammalian DNA

Lindsay, S., & Bird, A. P. (1987) · Nature · doi:10.1038/327336a0 · Cited by 382

A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

Tsuji, S., Choudary, P. V., Martin, B. M., Stubblefield, B. K., Mayor, J. A., Barranger, J. A., & Ginns, E. I. (1987) · New England Journal of Medicine · doi:10.1056/nejm198703053161002 · Cited by 345

DNA methylation patterns Formation and function

Razin, A., & Szyf, M. (1984) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/0167-4781(84)90043-5 · Cited by 316

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

Lehrman, M. A., Goldstein, J. L., Brown, M. S., Russell, D. W., & Schneider, W. J. (1985) · Cell · doi:10.1016/s0092-8674(85)80054-4 · Cited by 297

An estimate of unique DNA sequence heterozygosity in the human genome

Cooper, D. N., Smith, B. A., Cooke, H. J., Niemann, S., & Schmidtke, J. (1985) · Human Genetics · doi:10.1007/bf00293024 · Cited by 293

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

Kidd, V. J., Wallace, R. B., Itakura, K., & Woo, S. L. C. (1983) · Nature · doi:10.1038/304230a0 · Cited by 275

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Youssoufian, H., Kazazian, H. H., Phillips, D. G., Aronis, S., Tsiftis, G., Brown, V. A., & Antonarakis, S. E. (1986) · Nature · doi:10.1038/324380a0 · Cited by 262

DNA polymorphism and molecular pathology of the human globin gene clusters

Antonarakis, S. E., Kazazian, H. H., & Orkin, S. H. (1985) · Human Genetics · doi:10.1007/bf00295521 · Cited by 249

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

DiLella, A. G., Marvit, J., Lidsky, A. S., Güttler, F., & Woo, S. L. C. (1986) · Nature · doi:10.1038/322799a0 · Cited by 247

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

Gitschier, J., Wood, W. I., Tuddenham, E. G. D., Shuman, M. A., Goralka, T. M., Chen, E. Y., & Lawn, R. M. (1985) · Nature · doi:10.1038/315427a0 · Cited by 202

Non-methylated CpG-rich islands at the human alpha-globin locus: implications for evolution of the alpha-globin pseudogene.

Bird, A. P., Taggart, M. H., Nicholls, R. D., & Higgs, D. R. (1987) · The EMBO Journal · doi:10.1002/j.1460-2075.1987.tb04851.x · Cited by 201

Long-range restriction site mapping of mammalian genomic DNA

Brown, W. R. A., & Bird, A. P. (1986) · Nature · doi:10.1038/322477a0 · Cited by 191

Eukaryotic DNA methylation

Cooper, D. N. (1983) · Human Genetics · doi:10.1007/bf00292363 · Cited by 183

Unmethlated domains in vertebrate DNA

Cooper, D. N., Taggart, M. H., & Bird, A. P. (1983) · Nucleic Acids Research · doi:10.1093/nar/11.3.647 · Cited by 183

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4

Bentley, A. (1986) · Cell · doi:10.1016/0092-8674(86)90319-3 · Cited by 176

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.

Wallace, M. R., Dwulet, F. E., Conneally, P. M., & Benson, M. D. (1986) · Journal of Clinical Investigation · doi:10.1172/jci112573 · Cited by 160

Three mutant insulins in man

Shoelson, S., Haneda, M., Blix, P., Nanjo, A., Sanke, T., Inouye, K., Steiner, D., Rubenstein, A., & Tager, H. (1983) · Nature · doi:10.1038/302540a0 · Cited by 157

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

Cooper, D. N., & Schmidtke, J. (1984) · Human Genetics · doi:10.1007/bf00275182 · Cited by 147

DNA methylation at asymmetric sites is associated with numerous transition mutations.

Selker, E. U., & Stevens, J. N. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.23.8114 · Cited by 146

Heat- and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNA

Wang, R. Y. ‐., Kuo, K. C., Gehrke, C. W., Huang, L.-H., & Ehrlich, M. (1982) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/0167-4781(82)90101-4 · Cited by 130

Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.

Nukiwa, T., Satoh, K., Brantly, M., Ogushi, F., Fells, G. A., Courtney, M., & Crystal, R. G. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)66664-5 · Cited by 123

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

Cohn, D. H., Byers, P. H., Steinmann, B. U., & Gelinas, R. E. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.16.6045 · Cited by 120

Higher frequencies of transitions among point mutations

Vogel, F., & Kopun, M. (1977) · Journal of Molecular Evolution · doi:10.1007/bf01732746 · Cited by 99

Eukaryotic dinucleotide preference rules and their implications for degenerate codon usage

Nussinov, R. (1981) · Journal of Molecular Biology · doi:10.1016/0022-2836(81)90264-3 · Cited by 97

The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene.

Cladaras, C., Hadzopoulou-Cladaras, M., Felber, B. K., Pavlakis, G., & Zannis, V. I. (1987) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)61655-2 · Cited by 92

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

Bonthron, D. T., Markham, A. F., Ginsburg, D. S., & Orkin, S. H. (1985) · Journal of Clinical Investigation · doi:10.1172/jci112050 · Cited by 82

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

Rees, D. J. G., Rizza, C. R., & Brownlee, G. G. (1985) · Nature · doi:10.1038/316643a0 · Cited by 81

A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.

Chan, S. J., Seino, S., Gruppuso, P. A., Schwartz, R., & Steiner, D. F. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.8.2194 · Cited by 80

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.

Daar, I. O., Artymiuk, P. J., Phillips, D. C., & Maquat, L. E. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.20.7903 · Cited by 78

Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.

Haneda, M., Chan, S. J., Kwok, S. C. M., Rubenstein, A. H., & Steiner, D. F. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.20.6366 · Cited by 62

Nucleotide sequence of 16-kilobase pairs of DNA 5' to the human epsilon-globin gene.

Li, Q., Powers, P. A., & Smithies, O. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)95678-4 · Cited by 59

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.

Shibasaki, Y., Kawakami, T., Kanazawa, Y., Akanuma, Y., & Takaku, F. (1985) · Journal of Clinical Investigation · doi:10.1172/jci111973 · Cited by 56

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

Valerio, D., Dekker, B. M. M., Duyvesteyn, M. G. C., van der Voorn, L., Berkvens, T. M., van Ormondt, H., & van der Eb, A. J. (1986) · The EMBO Journal · doi:10.1002/j.1460-2075.1986.tb04184.x · Cited by 54

Evolution of the primate β-globin gene region

Savatier, P., Trabuchet, G., Faure, C., Chebloune, Y., Gouy, M., Verdier, G., & Nigon, V. (1985) · Journal of Molecular Biology · doi:10.1016/0022-2836(85)90024-5 · Cited by 54

Tangier disease. The complete mRNA sequence encoding for preproapo-A-I.

Law, S. W. T., & Brewer, H. B. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)38949-4 · Cited by 33

Diagnosis of genetic disease using recombinant DNA. Supplement

Cooper, D. N., & Schmidtke, J. (1987) · Human Genetics · doi:10.1007/bf00284717 · Cited by 27

Structure and evolution of the human genes encoding protein C and coagulation factor IX

Long, G. L. (1987) · Journal of Cellular Biochemistry · doi:10.1002/jcb.240330305 · Cited by 6

Positional cloning of the mouse obese gene and its human homologue

Zhang, Y., Proenca, R., Maffei, M., Barone, M., Leopold, L., & Friedman, J. M. (1994) · Nature · doi:10.1038/372425a0 · Cited by 13,419

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587

Functions of DNA methylation: islands, start sites, gene bodies and beyond

Jones, P. A. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3230 · Cited by 6,061

Instability and decay of the primary structure of DNA

Lindahl, T. (1993) · Nature · doi:10.1038/362709a0 · Cited by 5,679

Mechanisms of DNA damage, repair, and mutagenesis

Chatterjee, N., & Walker, G. C. (2017) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22087 · Cited by 2,039