Contribution of DNA polymerase eta to immunoglobulin gene hypermutation in the mouse

Autor: Jean-Claude Weill, Annie De Smet, Said Aoufouchi, Ahmad Faili, Claude-Agnès Reynaud, Frédéric Delbos
Přispěvatelé: Développement du Systeme Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ministère de la Recherche (A.C.I. Biologie du Développement et Physiologie Intégrative), Ligue Nationale Contre le Cancer, Fondation Princesse Grace de Monaco, Delbos, Frédéric, Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)
Jazyk: angličtina
Rok vydání: 2005
Předmět:
DNA Repair
DNA polymerase
Base Pair Mismatch
DNA-Directed DNA Polymerase
MESH: Base Sequence
MESH: Mice
Knockout

Mice
Peyer's Patches
0302 clinical medicine
MESH: DNA-Directed DNA Polymerase
Immunology and Allergy
MESH: Animals
Polymerase
Genetics
Mice
Knockout

MESH: DNA Repair
0303 health sciences
B-Lymphocytes
biology
Genes
Immunoglobulin

somatic hypermutation
immunoglobulin genes
DNA Polymerase iota
polymerase eta
[SDV.IMM]Life Sciences [q-bio]/Immunology
Immunoglobulin gene
congenital
hereditary
and neonatal diseases and abnormalities

MESH: Somatic Hypermutation
Immunoglobulin

[SDV.IMM] Life Sciences [q-bio]/Immunology
Mismatch repair complex
DNA repair
DNA polymerase II
Immunology
Molecular Sequence Data
Somatic hypermutation
03 medical and health sciences
MESH: B-Lymphocytes
Animals
MESH: Mice
030304 developmental biology
MESH: Base Pair Mismatch
MESH: Molecular Sequence Data
Base Sequence
Mutagenesis
Brief Definitive Report
nutritional and metabolic diseases
Molecular biology
MESH: Genes
Immunoglobulin

biology.protein
MESH: Peyer's Patches
Somatic Hypermutation
Immunoglobulin

030215 immunology
Zdroj: Journal of Experimental Medicine
Journal of Experimental Medicine, 2005, 201 (8), pp.1191-6. ⟨10.1084/jem.20050292⟩
Journal of Experimental Medicine, Rockefeller University Press, 2005, 201 (8), pp.1191-6. ⟨10.1084/jem.20050292⟩
The Journal of Experimental Medicine
The Journal of Experimental Medecine
The Journal of Experimental Medecine, The Rockefeller University Press, 2005, 201 (8), pp.1191-6. 〈10.1084/jem.20050292〉
ISSN: 0022-1007
1540-9538
DOI: 10.1084/jem.20050292⟩
Popis: International audience; The mutation pattern of immunoglobulin genes was studied in mice deficient for DNA polymerase eta, a translesional polymerase whose inactivation is responsible for the xeroderma pigmentosum variant (XP-V) syndrome in humans. Mutations show an 85% G/C biased pattern, similar to that reported for XP-V patients. Breeding these mice with animals harboring the stop codon mutation of the 129/Olain background in their DNA polymerase iota gene did not alter this pattern further. Although this G/C biased mutation profile resembles that of mice deficient in the MSH2 or MSH6 components of the mismatch repair complex, the residual A/T mutagenesis of pol eta-deficient mice differs markedly. This suggests that, in the absence of pol eta, the MSH2-MSH6 complex is able to recruit another DNA polymerase that is more accurate at copying A/T bases, possibly pol kappa, to assume its function in hypermutation.
Databáze: OpenAIRE