Article

Extra-haplotype rescue mosaicism mediates multi-lineage functional restoration in a monogenic condition

2026-07-23

Abstract excerpt

<title>Abstract</title> <p>Fanconi anaemia (FA) is a heritable DNA repair disorder in which somatic genetic rescue is frequently observed and selected, conferring improved haematopoietic outcomes. Here we identify a distinct class of genetic rescue which we term extra-haplotype rescue mosaicism, in which an additional parental allele enables functional rescue through allelic combination rather than sequence-level...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5a52effa-361b-5176-b969-a6edec307fcf
DOI: 10.21203/rs.3.rs-10063641/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Extra-haplotype rescue mosaicism mediates multi-lineage functional restoration in a monogenic conditionDOI 10.21203/rs.3.rs-10063641/v1Read

Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemiaSemantic proximity Read

Mechanisms and consequences of somatic mosaicism in humans.Semantic proximity Read

Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.Semantic proximity Read

Genotype-phenotype correlations in Fanconi anemia.Semantic proximity Read

Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalizationSemantic proximity Read

Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.Semantic proximity Read

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.Semantic proximity Read

Somatic genetic rescue in Mendelian haematopoietic diseasesSemantic proximity Read

Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders.Semantic proximity Read

Parental genomes segregate into different blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocystsSemantic proximity Read

Loss of rad51 in zebrafish (Danio rerio) : a novel Fanconi anaemia modelSemantic proximity Read

Revertant mosaicism in genodermatoses.Semantic proximity Read