Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

Molecular and cellular biology - 1 Aug 2000

Gomez C A, Ptaszek L M, Villa A, Bozzi F, Sobacchi C, Brooks E G, Notarangelo L D, Spanopoulou E, Pan Z Q, Vezzoni P, Cortes P, Santagata S

Abstract excerpt

The V(D)J recombination reaction is composed of multiple nucleolytic processing steps mediated by the recombination-activating proteins RAG1 and RAG2. Sequence analysis has suggested that RAG2 contains six kelch repeat motifs that are predicted to form a six-bladed beta-propeller structure, with the second beta-strand of each repeat demonstrating marked conservation both within and between kelch repeat-containing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Nucleus
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Nuclear Proteins

Share to Protein Conformation

Share to Recombinant Proteins

Share to Recombination, Genetic

Share to Repetitive Sequences, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 10891502
DOI: 10.1128/MCB.20.15.5653-5664.2000
PMCID: PMC86034

Genes

RAG2
RAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.PMID 10891502Read ↗

Crystal structure of the V(D)J recombinase RAG1-RAG2.Semantic proximity Read ↗

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.Semantic proximity Read ↗

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.Semantic proximity Read ↗

Human RAG mutations: biochemistry and clinical implications.Semantic proximity Read ↗

Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition.Semantic proximity Read ↗

Autoinhibition of DNA cleavage mediated by RAG1 and RAG2 is overcome by an epigenetic signal in V(D)J recombination.Semantic proximity Read ↗

RAG2’s Acidic Hinge Restricts Repair-Pathway Choice and Promotes Genomic StabilitySemantic proximity Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.Semantic proximity Read ↗

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.Semantic proximity Read ↗

Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiencySemantic proximity Read ↗

Role of recombination activating genes in the generation of antigen receptor diversity and beyond.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.