Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7736
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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
Publisher: NATURE PUBLISHING GROUP
Issue Date: 1996
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
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; Humans; Fanconi Anemia; Proteins; 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; Haplotypes; Heterozygote; Mutation; 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
RMID: 0030005431
DOI: 10.1038/ng1196-324
Description (link): http://www.ncbi.nlm.nih.gov/pubmed/8896564
Appears in Collections:Paediatrics publications

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