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FANCONIAGENE  [View Relations]  [View Alignment]  

PR00826

7

17-FEB-1998  (UPDATE 03-JUL-1999)

Fanconi anaemia group A protein signature

1. STRATHDEE, C.A., GAVISH, H., SHANNON, W.R. AND BUCHWALD, M.
Cloning of cDNAs for Fanconi's anaemia by functional complementation.
NATURE 356 763-767 (1992).
 
2. GIBSON, R.A., BUCHWALD, M., ROBERTS, R.G. AND MATHEW, C.G.
Characterisation of the exon structure of the Fanconi anaemia group
C gene by vectorette PCR.
HUM.MOL.GENET. 2(1) 35-38 (1993).
 
3. WALSH, C.E., NIENHUIS, A.W., SAMULSKI, R.J., BROWN, M.G., MILLER, J.L.,
YOUNG, N.S. AND LIU, J.M. 
Phenotypic correction of Fanconi anemia in human hematopoietic cells
with a recombinant adeno-associated virus vector.
J.CLIN.INVEST. 94 1440-1448 (1994).
 
4. IANZANO, L., D'APOLITO, M., CENTRA, M., SAVINO, M., LEVRAN, O., 
AUERBACH, A.D., CLETON-JANSEN, A.M., DOGGETT, N.A., PRONK, J.C., 
TIPPING, A.J., GIBSON, R.A., MATHEW, C.G., WHITMORE, S.A., APOSTOLOU, S.,
CALLEN, F.C., ZELANTE, L. AND SAVOIA, A. 
The genomic organization of the Fanconi anemia group A (FAA) gene.
GENOMICS 41(3) 309-314 (1997). 

Fanconi anaemia (FA) [1-3] is a recessive inherited disease characterised by
defective DNA repair. FA cells are sensitive to DNA cross-linking agents
that cause chromosomal instability and cell death. The disease is manifested
clinically by progressive pancytopenia, variable physical anomalies, and
predisposition to malignancy [3]. Four complementation groups have been
identified, designated A to D. The FA group A gene (FAA) has been
cloned [4], but its function remains to be elucidated. 
 
FANCONIAGENE is a 7-element fingerprint that provides a signature for
the Fanconi anaemia group A gene product. The fingerprint was derived 
from an initial alignment of 2 sequences: the motifs were drawn from
the C-terminal portion of the alignment, and include regions known to
contain disease-inducing mutation sites. A single iteration on OWL30.0
was required to reach convergence, no further sequences being identified
beyond the starting set.
 
An update on OWL31_3 identified a true set of 3 sequences.

3 codes involving  7 elements
0 codes involving  6 elements
0 codes involving  5 elements
0 codes involving  4 elements
0 codes involving  3 elements
0 codes involving  2 elements

AC005360      HSCH16FAA     HSZ83067      

AC005360    AC005360 NID: g3367514 - human.               
HSCH16FAA   HSCH16FAA NID: g1657311 - human.              
HSZ83067    HSZ83067 NID: g2230887 - human.               

OWL30_0    1  50   NSINGLE    
OWL31_3    2  10   NSINGLE    

Motif 1  width=19
Element                        Seqn Id          St    Int   Rpt 
CEQFFHLVNSEMRNFCSHG            HSZ83067       1105   1105     - 
CEQFFHLVNSEMRNFCSHG            HSCH16FAA      1105   1105     - 
 
Motif 2  width=23
Element                        Seqn Id          St    Int   Rpt 
GGALTQDITAHFFRGLLNACLRS        HSZ83067       1123     -1     - 
GGALTQDITAHFFRGLLNACLRS        HSCH16FAA      1123     -1     - 
 
Motif 3  width=10
Element                        Seqn Id          St    Int   Rpt 
REENIRKQLK                     HSZ83067       1238     92     - 
REENIRKQLK                     HSCH16FAA      1238     92     - 
 
Motif 4  width=19
Element                        Seqn Id          St    Int   Rpt 
REELLVFLFFFSLMGLLSS            HSZ83067       1253      5     - 
REELLVFLFFFSLMGLLSS            HSCH16FAA      1253      5     - 
 
Motif 5  width=19
Element                        Seqn Id          St    Int   Rpt 
CLEKRKISWLALFQLTESD            HSZ83067       1294     22     - 
CLEKRKISWLALFQLTESD            HSCH16FAA      1294     22     - 
 
Motif 6  width=18
Element                        Seqn Id          St    Int   Rpt 
APDQHTRLLPFAFYSLLS             HSZ83067       1323     10     - 
APDQHTRLLPFAFYSLLS             HSCH16FAA      1323     10     - 
 
Motif 7  width=24
Element                        Seqn Id          St    Int   Rpt 
AAIREEAFLHVAVDMYLKLVQLFV       HSZ83067       1346      5     - 
AAIREEAFLHVAVDMYLKLVQLFV       HSCH16FAA      1346      5     - 

Motif 1  width=19
Element                        Seqn Id          St    Int   Rpt 
CEQFFHLVNSEMRNFCSHG            AC005360        496    496     - 
CEQFFHLVNSEMRNFCSHG            HSZ83067       1105   1105     - 
CEQFFHLVNSEMRNFCSHG            HSCH16FAA      1105   1105     - 
 
Motif 2  width=23
Element                        Seqn Id          St    Int   Rpt 
GGALTQDITAHFFRGLLNACLRS        AC005360        514     -1     - 
GGALTQDITAHFFRGLLNACLRS        HSZ83067       1123     -1     - 
GGALTQDITAHFFRGLLNACLRS        HSCH16FAA      1123     -1     - 
 
Motif 3  width=10
Element                        Seqn Id          St    Int   Rpt 
REENIRKQLK                     AC005360        629     92     - 
REENIRKQLK                     HSZ83067       1238     92     - 
REENIRKQLK                     HSCH16FAA      1238     92     - 
 
Motif 4  width=19
Element                        Seqn Id          St    Int   Rpt 
REELLVFLFFFSLMGLLSS            AC005360        644      5     - 
REELLVFLFFFSLMGLLSS            HSZ83067       1253      5     - 
REELLVFLFFFSLMGLLSS            HSCH16FAA      1253      5     - 
 
Motif 5  width=19
Element                        Seqn Id          St    Int   Rpt 
CLEKRKISWLALFQLTESD            AC005360        685     22     - 
CLEKRKISWLALFQLTESD            HSZ83067       1294     22     - 
CLEKRKISWLALFQLTESD            HSCH16FAA      1294     22     - 
 
Motif 6  width=18
Element                        Seqn Id          St    Int   Rpt 
APDQHTRLLPFAFYSLLS             AC005360        714     10     - 
APDQHTRLLPFAFYSLLS             HSZ83067       1323     10     - 
APDQHTRLLPFAFYSLLS             HSCH16FAA      1323     10     - 
 
Motif 7  width=24
Element                        Seqn Id          St    Int   Rpt 
AAIREEAFLHVAVDMYLKLVQLFV       AC005360        737      5     - 
AAIREEAFLHVAVDMYLKLVQLFV       HSZ83067       1346      5     - 
AAIREEAFLHVAVDMYLKLVQLFV       HSCH16FAA      1346      5     -