Fine exon-intron structure of the fanconi anemia group A (FAA) gene and characterization of two genomic deletions

Genomics

Volumn 51, Issue 3, 1998, Pages 463-467

  Centra, Marta ^a   Memeo, Elena ^a   D'Apolito, Maria ^a   Savino, Maria ^a   Ianzano, Leonarda ^a   Notarangelo, Angelo ^a   Liu, Jingmei ^b   Doggett, Norman A ^b   Zelante, Leopoldo ^a   Savoia, Anna ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b LOS ALAMOS NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXON; FANCONI ANEMIA; GENE DELETION; GENE MAPPING; GENE STRUCTURE; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0032144186     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5353     Document Type: Article

References (16)

1. Buchwald M. Complementation groups: One or more per gene. Nat. Genet. 11:1995;228-230.
2. Butturini A., Gale R. P., Verlander P. C., Adler-Brecher B., Gillio A., Auerbach A. D. Hematologic abnormalities in Fanconi anemia. An international Fanconi anemia study. Blood. 84:1994;1650-1655.
3. Nat. Genet. 14:1996;324-328.
4. Ianzano L., d'Apolito M., Centra M., Savino M., Levran O., Auerbach A. D., Cleton-Jansen A.-M., Doggett N., Pronk J. C., Tipping A. J., Gibson R. A., Mathew C. G., Whitmore S. A., Apostolou S., Callen D. F., Zelante L., Savoia A. The genomic organization of the Fanconi anemia group A (FAA. Genomics. 41:1997;309-314.
5. Joenje H., Lo Ten Foe J. R., Oostra A. B., van Berkel C. G. M., Rooimans M. A., Schroeder-Kurth T., Wegner R.-D., Gille J. J. P., Buchwald M., Arwert F. Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype. Blood. 86:1995;2156-2160.
6. Joenje H., Oostra A. B., Wijker M., Di Summa F., Van Berker C., Ebell W., Van Weel M., Pronk J. C., Buchwald M., Arwert F. Evidence for at least 8 Fanconi anemia genes. Am. J. Hum. Genet. 61:1997;940-944.
7. Kariya Y., Kato K., Hayashizaki Y., Himeno S., Tarui S., Matsubara K. Revision of consensus sequence of humanAlu. Gene. 53:1987;1-10.
8. Levran O., Erlich T., Magdalena N., Gregory J. J., Batish S. D., Verlander P. C., Auerbach A. D. Sequence variation in the Fanconi anemia geneFAA. Proc. Natl. Acad. Sci. USA. 94:1997;13051-13056.
9. Lo Ten Foe J., Rooimans A. A., Bosnoyan-Collins L., Alon N., Wijker M., Parker L., Lightfoot J., Carreau M., Callen D. F., Savoia A., Cheng N. C., van Berkel C. G. M., Strunk M. H. P., Gille J. J. P., Pals G., Kruyt F. A. E., Pronk J. C., Arwert F., Buchwald M., Joenje H. Expression cloning of a cDNA for the major Fanconi anemia gene,FAA. Nat. Genet. 14:1996;320-323.
10. Nicholls R. D., Fischel-Ghodsian N., Higgs D. R. Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints. Cell. 49:1997;369-378.
11. Rudiger N. S., Heinsvingn E. M., Hansen F. A., Faergeman O., Bolund L., Gregersen N. DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia. Clin. Genet. 39:1991;451-462.
12. Rudiger N. S., Gregersen N., Kielland-Brandt M. C. One short well conserved region ofAlu. Nucleic Acids Res. 23:1995;256-260.
13. Savino M., Ianzano L., Strippoli P., Ramenghi U., Arslanian A., Bagnara G. P., Joenje H., Zelante L., Savoia A. Mutations of the Fanconi anemia group A gene (FAA. Am. J. Hum. Genet. 61:1997;1246-1253.
14. Savoia A., Piemontese M. R., Savino M., Zatterale A., Pronk J., Arwert F., Joenje H., Ramenghi U., Dagna-Bricarelli F., Dallapiccola B., Zelante L. Linkage analysis of Fanconi anemia in Italy and mapping of the complementation group A gene. Hum. Genet. 99:1997;93-97.
15. Strathdee C. A., Duncan A. M. V., Buchwald M. Evidence for at least four Fanconi anemia genes includingFACC. Nat. Genet. 1:1992;196-198.
16. Wijker M., Morgan N. V., Herterich S., van Berkel C. G. M., Tipping A. J., Schindler D., Gille J. J. P., Pals G., Savino M., Altay C., Mohan S. P., Dokal I., Cavenagh J., Marsh J., Van Weel M., Ortega J. J., Schuler D., Samochatova E., Karwacki M., Berkassy A., Abecasis M., Ebell W., Kwee M. L., Gibson R. A., Gluckman E., Arwert F., Joenje H., Savoia A., Hoehn H., Pronk J. C., Mathew C. G. Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur. J. Hum. Genet. 1998.