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Type: Journal article
Title: Positional cloning of the Fanconi anaemia group A gene
Author: Apostolou, S.
Whitmore, S.
Crawford, J.
Lennon, G.
Sutherland, G.
Callen, D.
Ianzano, L.
Savino, M.
d'Apolito, M.
Notarangelo, A.
Memeo, E.
Piemontese, M.
Zelante, L.
Savoia, A.
Gibson, R.
Tipping, A.
Morgan, N.
Hassock, S.
Jansen, S.
de Ravel, T.
et al.
Citation: Nature Genetics, 1996; 14(3):324-328
Issue Date: 1996
ISSN: 1061-4036
Statement of
Sinoula Apostolou, Scott A. Whitmore, Joanna Crawford, Gregory Lennon, Grant R. Sutherland, David F. Callen, Leonarda lanzano, Maria Savino, Maria D'Apolito, Angelo Notarangeio, Elena Memeo, Maria Rosaria Piemontese, Leopoldo Zelante, Anna Savoia, Rachel A. Gibson, Alex J. Tipping, Neil V. Morgan, Sheila Hassock, Stander Jansen, Thomy J. de Ravel, Carola Van Berkell, Jan C. Pronk, Douglas F. Easton, Christopher G. Mathew, Orna Levran, Peter C. Verlander, Sat Dev Batish, Tamar Erlich, Arleen D. Auerbach, Anne-Marie Cleton-Jansen, Elna W. Moerland, Cees J. Cornelisse, Norman A. Doggett, Larry L. Deaven & Robert K. Moyzis
Abstract: The Fanconi anaemia/Breast cancer consortium* Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition to acute myeloid leukaemia1. Cells from FA patients show increased sensitivity to bifunctional DNA crosslinking agents such as diepoxybutane and mitomycin C, with characteristic chromosome breakage2. FA is genetically heterogeneous, at least five different complementation groups (FA-A to FA-E) having been described3,4. The gene for group C (FAC) was cloned by functional complementation and mapped to chromosome 9q22.3 (refs 3, 5), but the genes for the other complementation groups have not yet been identified. The group A gene (FAA) has recently been mapped to chromosome 16q24.3 by linkage analysis6, and accounts for 60−65% of FA cases7,8. We narrowed the candidate region by linkage and allelic association analysis, and have isolated a gene that is mutated in FA-A patients. The 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.
Keywords: Fanconi anaemia/Breast cancer consortium
Fanconi Anemia
Cell Cycle Proteins
DNA-Binding Proteins
Nuclear Proteins
Chromosome Mapping
Cloning, Molecular
Polymerase Chain Reaction
Sequence Analysis, DNA
Gene Deletion
Amino Acid Sequence
Base Sequence
Tissue Distribution
Polymorphism, Single-Stranded Conformational
Molecular Sequence Data
Fanconi Anemia Complementation Group Proteins
Fanconi Anemia Complementation Group C Protein
Genetic Linkage
Rights: © 1996 Nature Publishing Group
DOI: 10.1038/ng1196-324
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Appears in Collections:Aurora harvest 4
Paediatrics publications

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