Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

• Published in: Nature genetics Vol. 22; no. 4; pp. 379 - 383
• Main Authors: Joenje, Hans, Waisfisz, Quinten, Morgan, Neil V, Savino, Maria, de Winter, Johan P, van Berkel, Carola G.M, Hoatlin, Maureen E, Ianzano, Leonarda, Gibson, Rachel A, Arwert, Fre, Savoia, Anna, Mathew, Christopher G, Pronk, Jan C
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.08.1999
• Subjects: Alleles; Anemias. Hemoglobinopathies; Base Sequence; Biological and medical sciences; Cell Cycle Proteins; Diseases of red blood cells; DNA-Binding Proteins; Dose-Response Relationship, Drug; Fanconi Anemia - genetics; Fanconi Anemia Complementation Group A Protein; Fanconi Anemia Complementation Group C Protein; Fanconi Anemia Complementation Group Proteins; Female; Frameshift Mutation; Gene Deletion; Hematologic and hematopoietic diseases; Homozygote; Humans; Male; Medical sciences; Methylation; Molecular Sequence Data; Mosaicism; Nuclear Proteins; Phenotype; Precipitin Tests; Proteins - genetics; Transfection; Human; Chromosome fragility; Allele; Reversion; Fanconi anemia; Spontaneous; Genetics; Mosaicism; Hemopathy; Mutation; Homozygosity; Genetic disease

Somatic mosaicism due to reversion of a pathogenic allele to wild type has been described in several autosomal recessive disorders. The best known mechanism involves intragenic mitotic recombination or gene conversion in compound heterozygous patients, whereby one allele serves to restore the wild-t...