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]
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Cites
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hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum
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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
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Research works printed but not linked: 1
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Items 401–420 of 420
Schanz, S. (2008) · Zurich Open Repository and Archive (University of Zurich) · doi:10.3929/ethz-a-005710407
Lymphotropism of Hepatitis C Virus
Machida, K., & Lai, M. M. C. (2012) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814299794_0011
B‐Cell Antigen Receptor: Assembly and Diversification
Mohammad, M. M., Guillou, M. L., Ghamlouch, H., & Aoufouchi, S. (2020) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0028602
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Kreisel, K. (2021) · Gothenburg University Publications Electronic Archive (Gothenburg University)
Role of G-quadruplexes in targeting of somatic hypermutation
Honkonen, E. (2021) · UTUPub (University of Turku)
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UNG–RPA interaction governs the choice between high-fidelity and mutagenic uracil repair
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Riquet, A. (2014) · theses.fr (ABES) · doi:10.70675/22734470z04b6z47b0zb189ze9a0b3dfaeb6
“La Polη qui a une très faible fidélité, va synthétiser le fragment d’ADN manquant en introduisant des mutations au niveau de paires de bases dA:dT, en aval de la lésion dU (Peled et al., 2008; Petersen-Mahrt et al., 2002; Wilson et al., 2005), (Delbos et al., 2007; Zeng et al., 2001).”
BackgroundChaaya, N. (2019) · theses.fr (ABES) · doi:10.70675/35fc78abz1a3az4411za3dfzae9a3f86907a
Nebot-Bral, L. (2021) · theses.fr (ABES) · doi:10.70675/e1797b79z28d4z4e65zbd29zdc771b604d21
Ranjit, S. (2010) · eScholarship@UMassChan
Iglesias-Ussel, M. D., ZIQIANG, L., & Scharff, M. D. (2007) · Elsevier eBooks · doi:10.1016/b978-012369454-6/50083-2
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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