Polymorphisms in human immunoglobulin heavy chain variable genes and their upstream regions.

5' Untranslated Regions Alleles Codon, Initiator Genes, Immunoglobulin Heavy Chain Humans Immunoglobulin Variable Region / genetics Molecular Sequence Annotation Polymorphism, Genetic Sequence Analysis, DNA TATA Box

Journal

Nucleic acids research
ISSN: 1362-4962
Titre abrégé: Nucleic Acids Res
Pays: England
ID NLM: 0411011

Informations de publication

Date de publication:
04 06 2020
Historique:
accepted: 20 04 2020
received: 09 04 2020
pubmed: 5 5 2020
medline: 18 8 2020
entrez: 5 5 2020
Statut: ppublish

Résumé

Germline variations in immunoglobulin genes influence the repertoire of B cell receptors and antibodies, and such polymorphisms may impact disease susceptibility. However, the knowledge of the genomic variation of the immunoglobulin loci is scarce. Here, we report 25 potential novel germline IGHV alleles as inferred from rearranged naïve B cell cDNA repertoires of 98 individuals. Thirteen novel alleles were selected for validation, out of which ten were successfully confirmed by targeted amplification and Sanger sequencing of non-B cell DNA. Moreover, we detected a high degree of variability upstream of the V-REGION in the 5'UTR, L-PART1 and L-PART2 sequences, and found that identical V-REGION alleles can differ in upstream sequences. Thus, we have identified a large genetic variation not only in the V-REGION but also in the upstream sequences of IGHV genes. Our findings provide a new perspective for annotating immunoglobulin repertoire sequencing data.

Identifiants

DOI: 10.1093/nar/gkaa310 PMID: 32365177 PMC: PMC7261178
pubmed: 32365177
pii: 5828916
doi: 10.1093/nar/gkaa310
pmc: PMC7261178
doi:

Substances chimiques

5' Untranslated Regions 0
Codon, Initiator 0
Immunoglobulin Variable Region 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

5499-5510

Informations de copyright

© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.

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Auteurs

Ivana Mikocziova (I)

K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway.

Moriah Gidoni (M)

Faculty of Engineering, Bar Ilan University, Ramat Gan 5290002, Israel.

Ida Lindeman (I)

K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway.

Ayelet Peres (A)

Faculty of Engineering, Bar Ilan University, Ramat Gan 5290002, Israel.

Omri Snir (O)

K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway.

Gur Yaari (G)

Faculty of Engineering, Bar Ilan University, Ramat Gan 5290002, Israel.

Ludvig M Sollid (LM)

K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Régions non traduites › Régions 5' non traduites › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Codon › Codon d'initiation › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes de chaine lourde d'immunoglobuline › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Région variable d'immunoglobuline › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Annotation de séquence moléculaire › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Polymorphisms in human immunoglobulin heavy...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Régions promotrices (génétique) › Boite TATA › Polymorphisms in human immunoglobulin heavy...