Positional cloning of the Fanconi anaemia group A gene
| Autor: | Leopoldo Zelante, Sinoula Apostolou, Peter C. Verlander, Elna W. Moerland, Douglas F. Easton, Maria Savino, Alex J. Tipping, Gregory G. Lennon, Leonarda lanzano, Neil V. Morgan, Anne-Marie Cleton-Jansen, S.A. Whitmore, Larry L. Deaven, Tamar Erlich, David F. Callen, Sheila Hassock, Christopher G. Mathew, Arleen D. Auerbach, Orna Levran, Joanna Crawford, Anna Savoia, Norman A. Doggett, Maria D'Apolito, Robert K. Moyzis, Thomy J. L. de Ravel, Jan C. Pronk, Stander Jansen, Rachel A. Gibson, Sat Dev Batish, Carola Van Berkell, Elena Memeo, Grant R. Sutherland, Angelo Notarangeio, Maria Rosaria Piemontese, Cees J. Cornelisse |
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| Rok vydání: | 1996 |
| Předmět: |
Heterozygote
Fanconi anemia complementation group C Positional cloning Genetic Linkage Molecular Sequence Data Cell Cycle Proteins Biology Polymerase Chain Reaction FANCF Fanconi anemia FANCG Genetics medicine Humans Tissue Distribution Amino Acid Sequence Cloning Molecular Polymorphism Single-Stranded Conformational Base Sequence Fanconi Anemia Complementation Group C Protein Chromosome Mapping Nuclear Proteins Proteins Sequence Analysis DNA medicine.disease Molecular biology FANCA Fanconi Anemia Complementation Group Proteins FANCB Complementation DNA-Binding Proteins Fanconi Anemia Haplotypes Mutation Gene Deletion |
| Zdroj: | Nature genetics. 14(3) |
| ISSN: | 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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