Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.
Fanconi anemia (FA) is a genetically heterogeneous disease with at least eight genes on the basis of complementation groups (FAA to FAH). The analysis of the FAA gene in patients suggested the existence of deletions, none of which have thus far been characterized at the genomic level. A detailed restriction map of the FAA gene with the fine localization of its 43 exons is reported in this paper. We also describe the first two genomic deletions, one of 5.0 kb and another of at least 120 kb. The former was likely the result of a recombination between related Alu sequences. Since these interspersed repeats could generate deletions and insertions by mispairing, rearrangements of this gene are a possibility in those FA families in which FAA mutations have not been identified.
Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, I-71013, Italy.
M
M
Centra
E
E
Memeo
M
M
d'Apolito
M
M
Savino
L
L
Ianzano
A
A
Notarangelo
J
J
Liu
N A
NA
Doggett
L
L
Zelante
A
A
Savoia
D001483:Base Sequence; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D011506:Proteins / Q000235:genetics*; D011995:Recombination, Genetic / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins