Cloning of cDNAs for Fanconi's anaemia by functional complementation

  title={Cloning of cDNAs for Fanconi's anaemia by functional complementation},
  author={Craig A. Strathdee and Hanna Gavish and William R. Shannon and Manuel Buchwald},
Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pan-cytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC… 
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
The isolation of a cDNA representing the FAA gene is reported, following an expression cloning method similar to the one used to clone the FAC gene.
Positional cloning of the Fanconi anaemia group A gene
A gene encodes a protein of 1,455 amino acids that has no significant homology to any other known proteins, and may therefore represent a new class of genes associated with the prevention or repair of DNA damage.
Molecular analysis of Fanconi anaemia
  • M. Digweed, K. Sperling
  • Biology, Medicine
    BioEssays : news and reviews in molecular, cellular and developmental biology
  • 1996
This work takes into account the wealth of experimental findings available and offers a novel hypothesis involving feedback control of DNA replication during S phase of the cell cycle to explain the basic defect in the disease.
Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p
Microcell mediated chromosome transfer utilizes functional complementation to identify the disease bearing chromosome13 and the successful use of this technique is reported to map the gene for the rare FA complementation group D (FA(D)).
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
It is concluded that a common mutation in FACC accounts for the majority of Fanconi anaemia in Ashkenazi–Jewish families.
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
The gene mutated in Fanconi anaemia group F patients by complementation cloning is identified as FANCF, which has no introns and encodes a polypeptide with homology to the prokaryotic RNA binding protein ROM.
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3
A panel of families classified as FA-A by complementation analysis is established, and a search for the FAA gene by linkage analysis is obtained, obtaining conclusive evidence for linkage of FAA to microsatellite markers on chromosome 16q24.3.


Identification of two complementation groups in Fanconi anemia
Testing for complementation in somatic cell hybrids constructed from Fanconi anemia patients revealed the presence of at least two complementation groups, suggesting that there may be two or more different FA genes.
Complementation and Gene Transfer Studies in Fanconi Anemia
In the cases of XP, AT, and FA, it has been possible to use somatic cell genetic techniques to demonstrate the existence of multiple complementation groups and the increased incidence of cancer and increased susceptibility to DNA damaging agents.
Oxygen Metabolism and Chromosomal Breakage in Fanconi Anemia
This work has promoted an experimental approach that complements investigations at the level of DNA repair and suggests that either cellular overproduction of “activated” oxygen species such as superoxide radicals, hydrogen peroxide, and hydroxyl radicals or a deficient cellular detoxification process might be primarily responsible for the chromosomal instability in FA.
A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents.
Peripheral blood lymphocytes of patients with Fanconi9s anemia were tested for their susceptibility to chromosome breakage by caffeine, chloramphenicol, actinomycin D, methylmethanesulfonate, nitrogen mustard and mitomycin C, and the specifically increased susceptibility to these compounds is interpreted as an indication that the FA cells are defective in the repair mechanism to tolerate the cross-links produced in their DNA.
The molecular basis of the sparse fur mouse mutation.
A single base substitution in the complementary DNA for ornithine transcarbamylase from the sparse fur mouse has been identified by means of a combination of two recently described techniques for rapid mutational analysis, simpler than conventional complementary DNA library construction, screening, and sequencing.
Fanconi Anaemia: Clinical, Cytogenetic and Experimental Aspects
This Molecular Genetics in Diseases of chapters describes the clinical disorder puterised retrieval systems, outlines the state of molecular knowledge, and describes in more and in some respects with specialised detail the work undertaken by the books that contain extensive biblioauthor(s).
Stable replication of plasmids derived from Epstein–Barr virus in various mammalian cells
It is shown that circular DNAs containing oriP, the EBNA-1 gene and a selectable marker replicate autonomously in cells derived from at at least four developmental lineages and from at least three species.