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Article

Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.

DNA repair - 4 May 2010

Tereshchenko Irina V, Chen Yanping, McDaniel Lisa D, Schultz Roger A, Tischfield Jay A, Shao Changshun

Abstract excerpt

BLM, the gene mutated in Bloom syndrome (BS), encodes an ATP-dependent RecQ DNA helicase that is involved in the resolution of Holliday junctions, in the suppression of crossovers and in the management of damaged replication forks. Cells from BS patients have a characteristically high level of sister chromatid exchanges (SCEs), and increased chromosomal aberrations. Fibroblasts and lymphocytes of BS patients also...

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Share to Bloom Syndrome
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, X-Linked

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Share to Hypoxanthine Phosphoribosyltransferase

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Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 20299287
DOI: 10.1016/j.dnarep.2010.02.005

Genes

BLM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.PMID 20299287Read ↗

Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase.Semantic proximity Read ↗

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Mutation of the murine Bloom's syndrome gene produces global genome destabilization.Semantic proximity Read ↗

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.Semantic proximity Read ↗

Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells.Semantic proximity Read ↗

Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice.Semantic proximity Read ↗

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