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

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

American journal of human genetics - 1 Nov 1995

Ellis N A, Lennon D J, Proytcheva M, Alhadeff B, Henderson E E, German J

Abstract excerpt

Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low-SCE mosaicism; conversely, mosaicism arises predominantly in persons who do not share a common...

Topics

Bloom Syndrome
Chromosome Deletion
Chromosome Mapping
DNA
Humans
Phenotype
Recombination, Genetic
Sister Chromatid Exchange

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7485150
PMCID: PMC1801389

Genes

BLM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7485150-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.PMID 7485150Read ↗

Molecular genetics of Bloom's syndrome.Semantic proximity Read ↗

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

Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.Semantic proximity Read ↗

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.Semantic proximity Read ↗

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.Semantic proximity Read ↗

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.Semantic proximity Read ↗

Intrachromosomal recombination between highly diverged DNA sequences is enabled in human cells deficient in Bloom helicase.Semantic proximity Read ↗

Three new BLM gene mutations associated with Bloom syndrome.Semantic proximity Read ↗

Relatively common mutations of the Bloom syndrome gene in the Japanese population.Semantic proximity Read ↗

Genome-wide phenotype analysis in ES cells by regulated disruption of Bloom's syndrome gene.Semantic proximity Read ↗

The Bloom's syndrome gene product is homologous to RecQ helicases.Semantic proximity Read ↗

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.Semantic proximity Read ↗

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