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Article

A hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis.

Human molecular genetics - 15 Feb 2011

Jacobs Cheryl, Huang Ying, Masud Tehmina, Lu William, Westfield Gerwin, Giblin William, Sekiguchi JoAnn M

Abstract excerpt

The Artemis gene encodes a DNA nuclease that plays important roles in non-homologous end-joining (NHEJ), a major double-strand break (DSB) repair pathway in mammalian cells. NHEJ factors repair general DSBs as well as programmed breaks generated during the lymphoid-specific DNA rearrangement, V(D)J recombination, which is required for lymphocyte development. Mutations that inactivate Artemis cause a human severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21147755
DOI: 10.1093/hmg/ddq524
PMCID: PMC3024049

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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