Low nucleotide diversity in man.

Li, W H; Sadler, L A

doi:10.1093/genetics/129.2.513

Cited by 501Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

Low nucleotide diversity in man.

Open access

Li, W H, Sadler, L A·1991·Genetics

DOI 10.1093/genetics/129.2.513

Open this paper in CoChat — free account

Abstract

The nucleotide diversity (pi) in humans is studied by using published cDNA and genomic sequences that have been carefully checked for sequencing accuracy. This measure of genetic variability is defined as the number of nucleotide differences per site between two randomly chosen sequences from a population. A total of more than 75,000 base pairs from 49 loci are compared. The DNA regions studied are the 5' and 3' untranslated regions and the amino acid coding regions. The coding regions are divided into nondegenerate sites (i.e., sites at which all possible changes are nonsynonymous), twofold degenerate sites (i.e., sites at each of which one of the three possible changes is synonymous) and fourfold degenerate sites (i.e., sites at which all three possible changes are synonymous). The pi values estimated are, respectively, 0.03 and 0.04% for the 5' and 3' UT regions, and 0.03, 0.06 and 0.11% for nondegenerate, twofold degenerate and fourfold degenerate sites. Since the highest pi value is only 0.11%, which is about one order of magnitude lower than those in Drosophila populations, the nucleotide diversity in humans is very low. The low diversity is probably due to a relatively small long-term effective population size rather than any severe bottleneck during human evolution.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1093/genetics/129.2.513

Cites

131 of 131 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Humans have limited genetic variation: the heterozygosity rate for single-nucleotide polymorphisms (SNPs) is ~1 in 1000 bases.
“As predicted by classical theory (29), humans have limited genetic variation: The heterozygosity rate for single-nucleotide polymorphisms (SNPs) is ~1 in 1000 bases (30–32).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [31]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Mathematical model for studying genetic variation in terms of restriction endonucleases.
Nei, M., & Li, W. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.10.5269 · Cited by 10,501 · see citing works
Self-citation
THE GENETIC BASIS OF EVOLUTIONARY CHANGE
Felsenstein, J. (1975) · Evolution · doi:10.1111/j.1558-5646.1975.tb00851.x · Cited by 3,551 · see citing works
Human tumour necrosis factor: precursor structure, expression and homology to lymphotoxin
Pennica, D., Nedwin, G. E., Hayflick, J. S., Seeburg, P. H., Derynck, R., Palladino, M. A., Kohr, W. J., Aggarwal, B. B., & Goeddel, D. V. (1984) · Nature · doi:10.1038/312724a0 · Cited by 1,732 · see citing works
Fundamentals of molecular evolution
(1991) · Journal of Human Evolution · doi:10.1016/0047-2484(91)90069-8 · Cited by 1,669 · see citing works
Isolation and characterization of genomic and cDNA clones of human erythropoietin
Jacobs, K. A., Shoemaker, C. B., Rudersdorf, R. A., Neill, S. D., Kaufman, R. J., Mufson, A., Seehra, J. S., Jones, S. S., Hewick, R. M., Fritsch, E. F., et al. (1985) · Nature · doi:10.1038/313806a0 · Cited by 1,077 · see citing works
A new method for estimating synonymous and nonsynonymous rates of nucleotide substitution considering the relative likelihood of nucleotide and codon changes.
Li, W., Wu, C., & Luo, C. C. (1985) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040343 · Cited by 1,053 · see citing works
Self-citation
Characterization of the human factor VIII gene
Gitschier, J. M., Wood, W. I., Goralka, T. M., Wion, K. L., Chen, E. Y., Eaton, D. H., Vehar, G. A., Capon, D. J., & Lawn, R. M. (1984) · Nature · doi:10.1038/312326a0 · Cited by 985 · see citing works
Nucleotide substitution at major histocompatibility complex class II loci: evidence for overdominant selection.
Hughes, A. L. H., & Nei, M. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.3.958 · Cited by 893 · see citing works
Molecular cloning and expression of cDNA for human granulocyte colony-stimulating factor
Nagata, S., Tsuchiya, M., Asano, S., Kaziro, Y., Yamazaki, T., Yamamoto, O., Hirata, Y., Kubota, N., Oh‐eda, M., Nomura, H., et al. (1986) · Nature · doi:10.1038/319415a0 · Cited by 812 · see citing works
Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster
Kreitman, M. (1983) · Nature · doi:10.1038/304412a0 · Cited by 722 · see citing works
Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B)
Yoshitake, S., Schach, B. G., Foster, D. C., et al. (1985) · Biochemistry · doi:10.1021/bi00335a049 · Cited by 667 · see citing works
C. Genetics of Man Enzyme polymorphisms in man
Harris, H. (1966) · Proceedings of the Royal Society of London. Series B. Biological Sciences · doi:10.1098/rspb.1966.0032 · Cited by 611 · see citing works
The Human Androgen Receptor: Complementary Deoxyribonucleic Acid Cloning, Sequence Analysis and Gene Expression in Prostate
Lubahn, D. B., JOSEPH, D. R., Sar, M., Tan, J.-A., Higgs, H. N., Larson, R. E., French, F. S., & Wilson, E. M. (1988) · Molecular Endocrinology · doi:10.1210/mend-2-12-1265 · Cited by 570 · see citing works
Structure of human steroid 21-hydroxylase genes.
White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569 · see citing works
Structure of the gene for human von Willebrand factor
Mancuso, D. J., Tuley, E., Westfield, L. A., et al. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)47144-5 · Cited by 500 · see citing works
Human Lymphotoxin and tumor necrosis factor genes: structure, homology and chromosomal localization
Nedwin, G. E., Naylor, S. L., Sakaguchi, A. Y., Smith, D. H., Jarrett‐Nedwin, J., Pennica, D., Goeddel, D. V., & Gray, P. W. (1985) · Nucleic Acids Research · doi:10.1093/nar/13.17.6361 · Cited by 500 · see citing works
The Aldo-Keto Reductase Superfamily
Bohren, K. M., Bullock, B., Wermuth, B., & Gabbay, K. H. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)60566-6 · Cited by 453 · see citing works
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
Lubahn, D. B., Brown, T. R., Simental, J. A., Higgs, H. N., Migeon, C. J., Wilson, E. M., & French, F. S. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.23.9534 · Cited by 447 · see citing works
Molecular cloning of the beta‐subunit of human prolyl 4‐hydroxylase. This subunit and protein disulphide isomerase are products of the same gene.
Pihlajaniemi, T. A., Helaakoski, T., Tasanen, K., Myllylä, R., Huhtala, M., Koivu, J., & Kivirikko, K. I. (1987) · The EMBO Journal · doi:10.1002/j.1460-2075.1987.tb04803.x · Cited by 425 · see citing works
Structure and expression of human thrombomodulin, a thrombin receptor on endothelium acting as a cofactor for protein C activation.
Suzuki, K., Kusumoto, H., Deyashiki, Y., et al. (1987) · The EMBO Journal · doi:10.1002/j.1460-2075.1987.tb02448.x · Cited by 372 · see citing works
lyl-1, a novel gene altered by chromosomal translocation in T cell leukemia, codes for a protein with a helix-loop-helix DNA binding motif
Mellentin, J. D., Smith, S. D., & Cleary, M. L. (1989) · Cell · doi:10.1016/0092-8674(89)90404-2 · Cited by 346 · see citing works
HLA-A and B polymorphisms predate the divergence of humans and chimpanzees
Lawlor, D. A., Ward, F. E., Ennis, P. D., et al. (1988) · Nature · doi:10.1038/335268a0 · Cited by 340 · see citing works
Characterization of the Human p53 Gene
Lamb, P., & Crawford, L. (1986) · Molecular and Cellular Biology · doi:10.1128/mcb.6.5.1379 · Cited by 328 · see citing works
Molecular cloning, nucleotide sequence, and expression of the gene encoding human eosinophil differentiation factor (interleukin 5).
Campbell, H. D., Tucker, W. T., Hort, Y., Martinson, M., Mayo, G. M. E., Clutterbuck, E. J., Sanderson, C. J., & Young, I. G. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.19.6629 · Cited by 317 · see citing works
Cloning and characterization of two cDNAs coding for human von Willebrand factor.
Sadler, J. E., Shelton-Inloes, B. B., Sorace, J. M., et al. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.19.6394 · Cited by 303 · see citing works
A simple genealogical structure of strongly balanced allelic lines and trans-species evolution of polymorphism.
Takahata, N. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.7.2419 · Cited by 297 · see citing works
Inferring the evolutionary histories of the Adh and Adh-dup loci in Drosophila melanogaster from patterns of polymorphism and divergence.
Kreitman, M., & Hudson, R. R. (1991) · Genetics · doi:10.1093/genetics/127.3.565 · Cited by 294 · see citing works
Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs.
Kimura, S., Kotani, T., McBride, O. W., Umeki, K., Hirai, K., Nakayama, T., & Ohtaki, S. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.16.5555 · Cited by 282 · see citing works
Nucleotide sequence and structure of the human apolipoprotein E gene.
Paik, Y. K., Chang, D. J., Reardon, C. A., Davies, G. E., Mahley, R. W., & Taylor, J. M. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.10.3445 · Cited by 281 · see citing works
Cloning and sequencing of the intronless gene for angiogenin, a human angiogenesis factor
Kurachi, K., Davie, E. W., Strydom, D. J., et al. (1985) · Biochemistry · doi:10.1021/bi00341a032 · Cited by 274 · see citing works
Isolation and Characterization of the Human Chromosomal Gene for Polypeptide Chain Elongation Factor-1α
Uetsuki, T., Naito, A., Nagata, S., & Kaziro, Y. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)83619-5 · Cited by 272 · see citing works
Cloning and sequence analysis of cDNA for human renin precursor.
Tasuku, I. M. A. I., Miyazaki, H., Hirose, S., Hori, H., Hayashi, T., Kageyama, R., Ohkubo, H., Nakanishi, S., & Murakami, K. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.24.7405 · Cited by 271 · see citing works
Identification of a human gene (HCK) that encodes a protein-tyrosine kinase and is expressed in hemopoietic cells.
Quintrell, N. A., Lebo, R. V., VARMUS, H. E., Bishop, J. M., Pettenati, M. J., Beau, M. M. L., Dı́az, M. O., & Rowley, J. D. (1987) · Molecular and Cellular Biology · doi:10.1128/mcb.7.6.2267 · Cited by 266 · see citing works
Structure of cloned DNA complementary to rat prolactin messenger RNA.
Cooke, N. E., Coit, D., Weiner, R. I., et al. (1980) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)43768-4 · Cited by 263 · see citing works
Extent of protein polymosphism and the neutral mutation theory
Nei, M., & Graur, D. (1984) · Evolutionary Biology · Cited by 260 · see citing works
Full‐length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit.
Verweij, C. L., Diergaarde, P. J., Hart, M. H. L., & Pannekoek, H. (1986) · The EMBO Journal · doi:10.1002/j.1460-2075.1986.tb04435.x · Cited by 258 · see citing works
Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.
Levanon, D., Lieman‐Hurwitz, J., Dafni, N., Wigderson, M., Sherman, L., Bernstein, Y., Laver-Rudich, Z., DANCIGER, E., Stein, O. E., & Groner, Y. (1985) · The EMBO Journal · doi:10.1002/j.1460-2075.1985.tb02320.x · Cited by 250 · see citing works
Novel protein-tyrosine kinase gene (hck) preferentially expressed in cells of hematopoietic origin.
Ziegler, S. F., Marth, J. D., Lewis, D. B., et al. (1987) · Molecular and Cellular Biology · doi:10.1128/mcb.7.6.2276 · Cited by 247 · see citing works
Nucleotide sequences of chimpanzee MHC class I alleles: evidence for trans‐species mode of evolution.
Mayer, W. E., Jonker, M., Klein, D. C., Ivanyi, P., van Seventer, G. A., & Klein, J. (1988) · The EMBO Journal · doi:10.1002/j.1460-2075.1988.tb03131.x · Cited by 243 · see citing works
The chromosomal gene structure and two mRNAs for human granulocyte colony‐stimulating factor.
Nagata, S., Tsuchiya, M., Asano, S., et al. (1986) · The EMBO Journal · doi:10.1002/j.1460-2075.1986.tb04249.x · Cited by 226 · see citing works
The human tissue plasminogen activator gene.
Degen, S. J., Rajput, B., & Reich, E. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)62711-0 · Cited by 222 · see citing works
Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.
Michelson, A. M., Markham, A. F., & Orkin, S. H. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.2.472 · Cited by 222 · see citing works
Cloning of the cDNA for human 5-lipoxygenase.
Dixon, R. A., Jones, R. E., Diehl, R. E., Bennett, C. D., Kargman, S., & Rouzer, C. A. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.2.416 · Cited by 221 · see citing works
Human p53 cellular tumor antigen: cDNA sequence and expression in COS cells.
Zakut, R., Bienz-Tadmor, B., Givol, D., & Oren, M. (1985) · The EMBO Journal · doi:10.1002/j.1460-2075.1985.tb03768.x · Cited by 218 · see citing works
Molecular cloning and amino acid sequence of human 5-lipoxygenase.
Matsumoto, T., Funk, C. D., Rådmark, O., Höög, J. O., Jörnvall, H., & Samuelsson, B. O. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.1.26 · Cited by 210 · see citing works
Nucleotide sequence of the human parathyroid hormone gene.
Vasicek, T. J., McDevitt, B. E., Freeman, M. W., Fennick, B. J., Hendy, G. N., Potts, J. T. J., Rich, A., & Kronenberg, H. M. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.8.2127 · Cited by 206 · see citing works
Cloning of cDNA for human T-cell replacing factor (interieukin-5) and comparison with the murine homologue
Azuma, C., Tanabe, T., Konishi, M., et al. (1986) · Nucleic Acids Research · doi:10.1093/nar/14.22.9149 · Cited by 206 · see citing works
Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C
Leytus, S. P., Foster, D. C., Kurachi, K., & Davie, E. W. (1986) · Biochemistry · doi:10.1021/bi00366a018 · Cited by 204 · see citing works
cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms
Shelton-Inloes, B. B., Titani, K., & Sadler, J. E. (1986) · Biochemistry · doi:10.1021/bi00359a014 · Cited by 204 · see citing works
Human Thymidine Kinase Gene: Molecular Cloning and Nucleotide Sequence of a cDNA Expressible in Mammalian Cells
Bradshaw, H. D., & Deininger, P. L. (1984) · Molecular and Cellular Biology · doi:10.1128/mcb.4.11.2316 · Cited by 203 · see citing works
Genomic sequence for human prointerleukin 1 beta: possible evolution from a reverse transcribed prointerleukin 1 alpha gene
Clark, B. D., Collins, K. L., Gandy, M. S., et al. (1986) · Nucleic Acids Research · doi:10.1093/nar/14.20.7897 · Cited by 202 · see citing works
Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA.
Sherman, L., Dafni, N., Lieman‐Hurwitz, J., & Groner, Y. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.18.5465 · Cited by 191 · see citing works
Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.
Hendy, G. N., Kronenberg, H. M., Potts, J. T. J., et al. (1981) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.78.12.7365 · Cited by 185 · see citing works
Isolation and characterization of the human prolactin gene.
Truong, A. T., Duez, C., Belayew, A., et al. (1984) · The EMBO Journal · doi:10.1002/j.1460-2075.1984.tb01824.x · Cited by 184 · see citing works
Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.
Datta, S., Luo, C. C., Li, W., et al. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)57271-4 · Cited by 183 · see citing works
Self-citation
.gamma. and .gamma.' chains of human fibrinogen are produced by alternative mRNA processing
Chung, D. W., & Davie, E. W. (1984) · Biochemistry · doi:10.1021/bi00313a033 · Cited by 175 · see citing works
Evolution and organization of the human protein C gene.
Plutzky, J., Hoskins, J., Long, G. L., et al. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.3.546 · Cited by 174 · see citing works
Isolation and characterization of full-length cDNA clones coding for cholinesterase from fetal human tissues.
Prody, C. A., Zevin‐Sonkin, D., Gnatt, A. L., Goldberg, O., & Soreq, H. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.11.3555 · Cited by 172 · see citing works
The primary structure of the α subunit of human elongation factor 1
Brands, J. H. G. M., Maassen, J. A., van Hemert, F. J., Amons, R., & Möller, W. J. (1986) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1986.tb09472.x · Cited by 170 · see citing works
Mutational pressure as the main cause of molecular evolution and polymorphism
Ohta, T. (1974) · Nature · doi:10.1038/252351a0 · Cited by 169 · see citing works
Complete sequence and structure of the gene for human adenosine deaminase
Wiginton, D. A., Kaplan, D. J., States, J. C., et al. (1986) · Biochemistry · doi:10.1021/bi00373a017 · Cited by 158 · see citing works
Primary structure of human preangiotensinogen deduced from the cloned cDNA sequence
Kageyama, R., Ohkubo, H., & Nakanishi, S. (1984) · Biochemistry · doi:10.1021/bi00311a006 · Cited by 154 · see citing works
Human apolipoprotein E mRNA. cDNA cloning and nucleotide sequencing of a new variant.
McLean, J. W., Elshourbagy, N. A., Chang, D. J., Mahley, R. W., & Taylor, J. M. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(20)82169-3 · Cited by 149 · see citing works
Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene
Kimura, S., Hong, Y. S., Kotani, T., Ohtaki, S., & Kikkawa, F. (1989) · Biochemistry · doi:10.1021/bi00436a054 · Cited by 146 · see citing works
The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs
Beckmann, R. J., Schmidt, R. J., Santerre, R. F., et al. (1985) · Nucleic Acids Research · doi:10.1093/nar/13.14.5233 · Cited by 146 · see citing works
Sequences of cDNAs for human salivary and pancreatic α-amylases
Nakamura, Y., Ogawa, M., Nishide, T., et al. (1984) · Gene · doi:10.1016/0378-1119(84)90265-8 · Cited by 144 · see citing works
Alternative RNA processing events in human calcitonin/calcitonin gene-related peptide gene expression.
Jonas, V., Lin, C., Kawashima, E. H., et al. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.7.1994 · Cited by 138 · see citing works
Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.
Ginsburg, D., Konkle, B. A., Gill, J. C., et al. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.10.3723 · Cited by 137 · see citing works
Structure of the human renin gene.
Miyazaki, H., Fukamizu, A., Hirose, S., et al. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.19.5999 · Cited by 136 · see citing works
The rosy region of Drosophila melanogaster and Drosophila simulans. I. Contrasting levels of naturally occurring DNA restriction map variation and divergence.
Aquadro, C. F., Lado, K. M., & Noon, W. A. (1988) · Genetics · doi:10.1093/genetics/119.4.875 · Cited by 132 · see citing works
Primary structure of human ribosomal protein S14 and the gene that encodes it.
Rhoads, D. D., Dixit, A., & Roufa, D. J. (1986) · Molecular and Cellular Biology · doi:10.1128/mcb.6.8.2774 · Cited by 131 · see citing works
Sequence, structure and promoter characterization of the human thymidine kinase gene
Flemington, E. K., Bradshaw, H. D., Traina‐Dorge, V., et al. (1987) · Gene · doi:10.1016/0378-1119(87)90053-9 · Cited by 128 · see citing works
Human triosephosphate isomerase cDNA and protein structure. Studies of triosephosphate isomerase deficiency in man.
Maquat, L. E., Chilcote, R. R., & Ryan, P. M. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)83687-6 · Cited by 126 · see citing works
Structure of gene and pseudogenes of human apoferritin H
Costanzo, F. S., Colombo, M. P., Staempfli, S., Santoro, C., Marone, M., Frank, R., Delius, H., & Cortese, R. (1986) · Nucleic Acids Research · doi:10.1093/nar/14.2.721 · Cited by 126 · see citing works
Human thrombomodulin gene is intron depleted: nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control.
Jackman, R. W., Beeler, D. L., Fritze, L. M. S., et al. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.18.6425 · Cited by 126 · see citing works
Structure of the human hepatic triglyceride lipase gene
Cai, S. J., Wong, D. M., Chen, S. H., & Chan, L. (1989) · Biochemistry · doi:10.1021/bi00449a002 · Cited by 122 · see citing works
Structure of the Human Vasoactive Intestinal Polypeptide Gene
Tsukada, T., Horovitch, S. J., Montminy, M., et al. (1985) · DNA · doi:10.1089/dna.1985.4.293 · Cited by 121 · see citing works
cDNA cloning of IL-1α and IL-1β from mRNA of U937 cell line
Nishida, T., Nishino, N., Takano, M., et al. (1987) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(87)90671-1 · Cited by 120 · see citing works
Genomic Organization and Chromosomal Localization of the Human Cathepsin G Gene
Hohn, P. A., Popescu, N. C., Hanson, R. D., Salvesen, G. S., & Ley, T. J. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)80012-6 · Cited by 118 · see citing works
Structure of the human α1acid glycoprotein gene: sequence homology with other human acute phase protein genes
Dente, L., Ciliberto, G., & Cortese, R. (1985) · Nucleic Acids Research · doi:10.1093/nar/13.11.3941 · Cited by 116 · see citing works
Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain.
Michelson, A. M., Blake, C., Evans, S. T., et al. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.20.6965 · Cited by 114 · see citing works
Restriction map variation in the Adh region of Drosophila.
Langley, C. H., Montgomery, E. A., & Quattlebaum, W. F. (1982) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.79.18.5631 · Cited by 112 · see citing works
Cloning of the human keratin 18 gene and its expression in nonepithelial mouse cells.
Kulesh, D. A., & Oshima, R. G. (1988) · Molecular and Cellular Biology · doi:10.1128/mcb.8.4.1540 · Cited by 111 · see citing works
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.
Broderick, T. P., Schaff, D. A., Bertino, A. M., et al. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.10.3349 · Cited by 107 · see citing works
Cloning and Sequence Determination of Human Placental Aldose Reductase Gene
Chung, S., & LaMendola, J. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)63766-4 · Cited by 104 · see citing works
Brain cDNA clone for human cholinesterase.
McTiernan, C. F., Adkins, S., Chatonnet, A., Vaughan, T. A., Bartels, C. F., Kott, M., Rosenberry, T. L., Du, B. N. L., & Lockridge, O. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.19.6682 · Cited by 103 · see citing works
cDNA sequence coding for human glutathione peroxidase
Sukenaga, Y., Ishida, K., Takeda, T., & Takagi, K. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7178 · Cited by 100 · see citing works
Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family.
Brown, J. R., Daar, I. O., Krug, J., et al. (1985) · Molecular and Cellular Biology · doi:10.1128/mcb.5.7.1694 · Cited by 99 · see citing works
Organization and sequence of the human α-lactalbumin gene
Hall, L. N., Emery, D. C., Davies, M. S., et al. (1987) · Biochemical Journal · doi:10.1042/bj2420735 · Cited by 98 · see citing works
Cloning the human lysozyme cDNA: inverted Alu repeat in the mRNA and in situ hybridization for macrophages and Paneth cells.
Chung, L.-P., Keshav, S., & Gordon, S. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.17.6227 · Cited by 98 · see citing works
Polymorphism and the subunit structure of enzymes: a contribution to the neutralist-selectionist controversy.
Harris, H., Hopkinson, D. A., & Edwards, Y. H. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.2.698 · Cited by 94 · see citing works
Sequence of a cDNA coding for human glutathione peroxidase confirms TGA encodes active site selenocysteine
Mullenbach, G. T., Tabrizi, A., Irvine, B. D., Bell, G. I., & Hallewell, R. A. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.13.5484 · Cited by 90 · see citing works
Comparison of mouse and human keratin 18: A component of intermediate filaments expressed prior to implantation
Oshima, R. G., Millán, J. L., & Ceceña, G. (1986) · Differentiation · doi:10.1111/j.1432-0436.1986.tb00411.x · Cited by 89 · see citing works
Cloning and sequencing of a full length cDNA coding for a human apoferritin H chain: evidence for a multigene family.
Costanzo, F. S., Santoro, C., Colantuoni, V., Bensi, G., Raugei, G., Romano, V., & Cortese, R. (1984) · The EMBO Journal · doi:10.1002/j.1460-2075.1984.tb01756.x · Cited by 89 · see citing works
Human interleukin-1 beta gene
Bensi, G., Raugei, G., Palla, E., et al. (1987) · Gene · doi:10.1016/0378-1119(87)90398-2 · Cited by 85 · see citing works
Characterization of the human gene for a polypeptide that acts both as the beta subunit of prolyl 4-hydroxylase and as protein disulfide isomerase.
Tasanen, K., PARKKONEN, T., Chow, L. T., Kivirikko, K. I., & Pihlajaniemi, T. A. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)37581-1 · Cited by 82 · see citing works
Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.
McGraw, R. A., Davis, L. M., Noyes, C. M., et al. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.9.2847 · Cited by 81 · see citing works
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
Shanske, S., Sakoda, S., Hermodson, M. A., et al. (1987) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)47840-4 · Cited by 80 · see citing works
Molecular cloning and structure of the human interleukin-5 gene.
Tanabe, T., Konishi, M., Mizuta, T.-R., et al. (1987) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)49295-2 · Cited by 79 · see citing works
A cDNA encoding a small common precursor for human pancreatic polypeptide and pancreatic icosapeptide.
Boel, E., Schwartz, T. W., Norris, K. E., & Fiil, N. P. (1984) · The EMBO Journal · doi:10.1002/j.1460-2075.1984.tb01904.x · Cited by 78 · see citing works
A "housekeeping" gene on the X chromosome encodes a protein similar to ubiquitin.
Toniolo, D., Persico, M. G., & Alcalay, M. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.3.851 · Cited by 76 · see citing works
Genomic organization of human lactate dehydrogenase-A gene
Chung, F., Tsujibo, H., Bhattacharyya, U., Sharief, F. S., & Li, S.-L. (1985) · Biochemical Journal · doi:10.1042/bj2310537 · Cited by 75 · see citing works
Primary structure of human salivary α-amylase gene
Nishide, T., Yusuke, N., Emi, M., et al. (1986) · Gene · doi:10.1016/0378-1119(86)90110-1 · Cited by 74 · see citing works
Isolation and DNA Sequence of Full-Length cDNA and of the Entire Gene for Human Apolipoprotein AI—Discovery of a New Genetic Polymorphism in the apo AI Gene
Seilhamer, J. J., Protter, A. A., Frossard, P., et al. (1984) · DNA · doi:10.1089/dna.1.1984.3.309 · Cited by 71 · see citing works
Human lysozyme: Sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae
Yoshimura, K., Toibana, A., & Nakahama, K. (1988) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(88)90461-5 · Cited by 70 · see citing works
Nucleotide sequences of the cDNA and an intronless pseudogene for human lactate dehydrogenase‐A isozyme
Tsujibo, H., Tiano, H. F., & LI, S. S. ‐. (1985) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1985.tb08711.x · Cited by 69 · see citing works
Nucleotide sequence of the gene for the .gamma. chain of human fibrinogen
Rixon, M. W., Chung, D. W., & Davie, E. W. (1985) · Biochemistry · doi:10.1021/bi00329a041 · Cited by 68 · see citing works
Comparison of the nucleotide sequence of cloned human and guinea-pig pre-α-lactalbumin cDNA with that of chick pre-lysozyme cDNA suggests evolution from a common ancestral gene
Hall, L., CRAIG, R. K., Edbrooke, M. R., et al. (1982) · Nucleic Acids Research · doi:10.1093/nar/10.11.3503 · Cited by 65 · see citing works
Nucleotide sequence of a human gene for glutathione peroxidase
Ishida, K., Morino, T., Takagi, K., et al. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.23.10051 · Cited by 61 · see citing works
Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.
Adrian, G. S., Wiginton, D. A., & Hutton, J. J. (1984) · Molecular and Cellular Biology · doi:10.1128/mcb.4.9.1712 · Cited by 59 · see citing works
Genomic and cDNA cloning of the human C1 inhibitor
Carter, P. E., Dunbar, B., & Fothergill, J. E. (1988) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1988.tb13980.x · Cited by 58 · see citing works
Gene Structure of Human Thrombomodulin, a Cofactor for Thrombin Catalyzed Activation of Protein C1
Shirai, T., Shiojiri, S., Ito, H., et al. (1988) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a122261 · Cited by 53 · see citing works
Organization of the human alpha 2-plasmin inhibitor gene.
Hirosawa, S., Nakamura, Y., Miura, O., et al. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.18.6836 · Cited by 52 · see citing works
Nucleotide sequence of the human APRT gene
Hidaka, Y., Tarlé, S. A., O’Toole, T. E., et al. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.21.9086 · Cited by 52 · see citing works
The cDNA and protein sequences of human lactate dehydrogenase B
Sakai, I., Sharief, F. S., Pan, Y.-C. E., et al. (1987) · Biochemical Journal · doi:10.1042/bj2480933 · Cited by 51 · see citing works
Human apolipoprotein A-II: Nucleotide sequence of a cloned cDNA, and localization of its structural gene on human chromosome 1
Moore, M. N., Kao, F., Tsao, Y.-K., et al. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(84)90371-1 · Cited by 50 · see citing works
No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles.
Xiong, W. J., Li, W., Posner, I., et al. (1991) · PubMed · Cited by 49 · see citing works
Self-citation
Structure of a precursor to human pancreatic polypeptide.
Leiter, A. B., Keutmann, H. T., & Goodman, R. H. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)42659-7 · Cited by 49 · see citing works
Distinguishing the forces controlling genetic variation at the Xdh locus in Drosophila pseudoobscura.
Riley, M. A., Hallas, M. E., & Lewontin, R. C. (1989) · Genetics · doi:10.1093/genetics/123.2.359 · Cited by 48 · see citing works
Structure of the human lactate dehydrogenase B gene
Takeno, T., & Li, S. S. L. (1989) · Biochemical Journal · doi:10.1042/bj2570921 · Cited by 47 · see citing works
Exons of the human pancreatic polypeptide gene define functional domains of the precursor.
Leiter, A. B., Montminy, M., Jamieson, E., et al. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)38830-0 · Cited by 46 · see citing works
Isolation, sequence, and differential expression of a human K7 gene in simple epithelial cells.
Glass, C. A., & Fuchs, E. V. (1988) · The Journal of Cell Biology · doi:10.1083/jcb.107.4.1337 · Cited by 46 · see citing works
Cloning of human lysozyme gene and expression in the yeast Saccharomyces cerevisiae
Castañón, M. J., Spevak, W., Adolf, G. R., et al. (1988) · Gene · doi:10.1016/0378-1119(88)90359-9 · Cited by 43 · see citing works
Isolation of a cDNA clone encoding pancreatic polypeptide.
Takeuchi, T., & Yamada, T. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.5.1536 · Cited by 42 · see citing works
Isolation and characterization of the human apolipoprotein A-II gene. Electron microscopic analysis of RNA:DNA hybrids, nucleotide sequence, identification of a polymorphic MspI site, and general structural organization of apolipoprotein genes.
Tsao, Y.-K., Wei, C. F., Robberson, D. L., et al. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)95725-x · Cited by 41 · see citing works
Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase
Tsujino, S., Sakoda, S., Mizuno, R., et al. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)84831-7 · Cited by 37 · see citing works
Cloning of cDNA for human T-cell replacing factor (interleukin-5) and comparison with the murine homologue
東, 千. (1989) · Medical Entomology and Zoology · Cited by 36 · see citing works
Structure of Human α2-Plasmin Inhibitor Deduced from the cDNA Sequence1
Tone, M., Kikuno, R. F., Kume-Iwaki, A., & Hashimoto-Gotoh, T. (1987) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a122141 · Cited by 31 · see citing works
Nucleotide sequence of cDNA for human aldose reductase
Graham, A., Hedge, P., Powell, S. J., et al. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.20.8368 · Cited by 24 · see citing works
Historical effective size and the level of genetic diversity in Drosophila melanogaster and Drosophila pseudoobscura
Choudhary, M., & Singh, R. S. (1987) · Biochemical Genetics · doi:10.1007/bf00498950 · Cited by 11 · see citing works
Difference in the nucleotide sequence of human angiotensinogen cDNA
Kunapuli, S. P., & Kumar, A. (1986) · Nucleic Acids Research · doi:10.1093/nar/14.18.7509 · Cited by 5 · see citing works

Flagged first, then by citations

Research works printed but not linked: 5

AQUADRO, C. F., 1991 Molecular population genetics of Drosoph- ila, in Molecular Approaches to Pure and Applied Entomology, edited by J. OAKESHOTL and M. WHITTEN. Springer-Verlag, New York (in press).
CRABTREEand G . L. LONG, 1985 The structure and evolution 909-9 12. 23 16-2320. 8966-8971. 6629-6633. Downloaded from https://academic.oup.com/genetics/article/129/2/513/6007055 by guest on 17 July 2024
HARRIS, H., 1966 Enzyme polymorphisms in man. Proc. R. SOC. Lond. Ser. B 164: 198-3 10.
HUGHES, A. L., and M. NEI, 1989 Nucleotidesubstitution at major histocompatibility complex class I1 loci: evidence for overdom- inant selection. Proc. Natl. Acad. Sci. USA 8 6 958-962.
JARRETT-NEDWIN, J. v. PENNICA, D. GOEDDELand P. w. GRAY, Downloaded from https://academic.oup.com/genetics/article/129/2/513/6007055 by guest on 17 July 2024 trophoretic identity of proteins between taxa. J. Mol. Evol. 2:

Sorted by citations

The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977 · see citing works
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Lane, C. R., Lim, E. P., Kalyanaraman, N., Nemesh, J., et al. (1999) · Nature Genetics · doi:10.1038/10290 · Cited by 1,547 · see citing works
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works
Bottlenecks and broomsticks: the molecular evolution of Mycobacterium bovis
Smith, N. H., Gordon, S. V., de la Rua-Domenech, R., Clifton-Hadley, R. S., & Hewinson, R. G. (2006) · Nature Reviews Microbiology · doi:10.1038/nrmicro1472 · Cited by 375 · see citing works
The costs of human inbreeding and their implications for variations at the DNA level.
Bittles, A. H., & Neel, J. V. (1994) · Nature Genetics · doi:10.1038/ng1094-117 · Cited by 311 · see citing works
Evidence for recent positive selection at the human AIM1 locus in a European population
Soejima, M., Tachida, H., Ishida, T., Sano, A., & Koda, Y. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msj018 · Cited by 84 · see citing works

Excess of Nonsynonymous Polymorphism at Acph-1 in Different Gene Arrangements of Drosophila subobscura
Navarro‐Sabaté, À. (2003) · Molecular Biology and Evolution · doi:10.1093/molbev/msg196 · Cited by 10 · see citing works
Plasmodium vivax synonymous substitution frequencies, evolution and population structure deduced from diversity in AMA 1 and MSP 1 genes
Figtree, M., Pasay, C. J., Slade, R., et al. (2000) · Molecular and Biochemical Parasitology · doi:10.1016/s0166-6851(00)00204-8 · Cited by 107 · see citing works
Small effective population sizes and rare nonsynonymous variants in potyviruses
Hughes, A. L. (2009) · Virology · doi:10.1016/j.virol.2009.07.016 · Cited by 25 · see citing works
Contributions of Protein-Coding and Regulatory Change to Adaptive Molecular Evolution in Murid Rodents
Halligan, D. L., Kousathanas, A., Ness, R. W., Harr, B., Eöry, L., Keane, T., Adams, D. J., & Keightley, P. D. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003995 · Cited by 101 · see citing works
Low genetic diversity among Cucumber vein yellowing virus isolates from Spain
Janssen, D., Velasco, L., Martín, G., et al. (2006) · Virus Genes · doi:10.1007/s11262-006-0026-3 · Cited by 20 · see citing works

Authors: Li, W. H., & Sadler, L. A.
Affiliations: The University of Texas Health Science Center at Houston (US)
ORCID: Li, W H
Venue: Genetics
Publisher: Oxford University Press (OUP)
Published: 1991-10-01
Volume: 129
Issue: 2
Pages: 513-523
ISSN: 0016-6731 (ISSN-L)
1943-2631
DOI: 10.1093/genetics/129.2.513
OpenAlex: W2149318232
Cited by: 501
References: 131
Citations by year: 2026: 3 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 6 · 2021: 5 · 2020: 3 · 2019: 9 · 2018: 5 · 2017: 4 · 2016: 8 · 2015: 9 · 2014: 7 · 2013: 10 · 2012: 14
FWCI: 6.42
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
Locations: Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: nucleotide diversity, human genetic variation, synonymous sites, 5' and 3' untranslated regions, effective population size, population bottleneck, human evolution, Drosophila comparison
MeSH terms: Animals, Chromosome Deletion, DNA, Drosophila, Humans, Mutation, Genetic Variation

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Low nucleotide diversity in man.

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Self-check

Cites

Cited by

Related

Record

About these checks