The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes
Abstract
To determine whether DNA polymerase eta plays a role in the hypermutation of immunoglobulin variable genes, we examined the frequency and pattern of substitutions in variable VH6 genes from the peripheral blood lymphocytes of three patients with xeroderma pigmentosum variant disease, whose polymerase eta had genetic defects. The frequency of mutation was normal but the types of base changes were different: there was a decrease in mutations at A and T and a concomitant rise in mutations at G and C. We propose that more than one polymerase contributes to hypermutation and that if one is absent, others compensate. The data indicate that polymerase eta is involved in generating errors that occur predominantly at A and T and that another polymerase(s) may preferentially generate errors opposite G and C.
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“is characterized by a pattern of mutations that has been attributed to pol h (see the Discussion section for details) recruited for the repair of DNA damaged by AID during somatic hypermutation in immunoglobulin genes [28][29][30] .”
From DNA polymerase η mutational signatures are found in a variety of different types of cancer (2018) · cites this paper as [30]
Citations
Cites
Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae
Pâques, F., & Haber, J. E. (1999) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.63.2.349-404.1999 · Cited by 2,120
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η
Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., & Hanaoka, F. (1999) · Nature · doi:10.1038/21447 · Cited by 1,292
Intraclonal generation of antibody mutants in germinal centres
Jacob, J., Kelsoe, G. H., Rajewsky, K., & Weiss, U. K. (1991) · Nature · doi:10.1038/354389a0 · Cited by 1,092
Efficient Bypass of a Thymine-Thymine Dimer by Yeast DNA Polymerase, Polη
Johnson, R. E., Prakash, S., & Prakash, L. (1999) · Science · doi:10.1126/science.283.5404.1001 · Cited by 736
hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum
Johnson, R. E., Kondratick, C. M., Prakash, S., & Prakash, L. (1999) · Science · doi:10.1126/science.285.5425.263 · Cited by 732
Thymine-Thymine Dimer Bypass by Yeast DNA Polymerase ζ
Nelson, J. R., Lawrence, C. W., & Hinkle, D. C. (1996) · Science · doi:10.1126/science.272.5268.1646 · Cited by 660
Eukaryotic polymerases ι and ζ act sequentially to bypass DNA lesions
Johnson, R. E., Washington, M. T., Haracska, L., Prakash, S., & Prakash, L. (2000) · Nature · doi:10.1038/35023030 · Cited by 632
Lehman, A. R., Kirk-Bell, S., Arlett, C. F., Paterson, M. C., Lohman, P. H., de Weerd-Kastelein, E. A., & Bootsma, D. (1975) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.72.1.219 · Cited by 614
Mechanisms of accurate translesion synthesis by human DNA polymerase η
Masutani, C., Kusumoto, R., Iwai, S., & Hanaoka, F. (2000) · The EMBO Journal · doi:10.1093/emboj/19.12.3100 · Cited by 504
Somatic hypermutagenesis in immunoglobulin genes
Rogozin, I. B., & Kolchanov, N. A. (1992) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/0167-4781(92)90134-l · Cited by 465
Research works printed but not linked: 1
- Wood, R. D., Gearhart, P. J. & Neuberger, M. S. Hypermutation in antibody genes. Phil. Trans. R. Soc. Lond. B 356, 1–125 (2001).
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Molecular Mechanisms of Antibody Somatic Hypermutation
Noia, J. M. D., & Neuberger, M. S. (2007) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.76.061705.090740 · Cited by 1,108
AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification
Petersen‐Mahrt, S. K., Harris, R. S., & Neuberger, M. S. (2002) · Nature · doi:10.1038/nature00862 · Cited by 901
Error-Prone Repair DNA Polymerases in Prokaryotes and Eukaryotes
Goodman, M. F. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.083101.124707 · Cited by 727
Hübscher, U., Maga, G., & Spadari, S. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.090501.150041 · Cited by 691
Y-family DNA polymerases and their role in tolerance of cellular DNA damage
Sale, J. E., Lehmann, A. R., & Woodgate, R. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3289 · Cited by 665
“Recognition of dU can also result in the formation of a single-strand gap, and the filling of these gaps by Pol η results in mutations at dA–dT base pair”
Self-citation
Metadata
- Authors
- Zeng, X., Winter, D. B., Kasmer, C., Kraemer, K. H., Lehmann, A. R., & Gearhart, P. J.
- Affiliations
- National Institutes of Health (US)
- Walter Reed Army Institute of Research (US)
- University of Sussex (GB)
- Corresponding author
- Gearhart, Patricia J.
- Venue
- Nature Immunology
- Published
- 2001-06
- Volume
- 2
- Issue
- 6
- Pages
- 537-541
- ISSN
- 1529-2908 (ISSN-L)
- 1529-2916
- OpenAlex
- W1560486125
- Semantic Scholar
- 8a9d17ca74ddcb4e43d0ff02f4b768b9cb457829
- Cited by
- 420
- References
- 49
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 6 · 2022: 7 · 2021: 11 · 2020: 12 · 2019: 12 · 2018: 10 · 2017: 10 · 2016: 11 · 2015: 8 · 2014: 12 · 2013: 15 · 2012: 15
- FWCI
- 13.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Immunology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (Z01BC004517)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- DNA polymerase eta, somatic hypermutation, immunoglobulin variable region genes, xeroderma pigmentosum variant, peripheral blood lymphocytes, error-prone mutagenesis
- MeSH terms
- Y-Family DNA Polymerases, Animals, B-Lymphocytes, Base Sequence, DNA, DNA-Directed DNA Polymerase, Genes, Immunoglobulin, Humans, Immunoglobulin Variable Region, Molecular Sequence Data, Mutation, Xeroderma Pigmentosum, Base Pairing, Mice
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