[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT SER-501.
TISSUE=Lymphoblast;
DOI=10.1038/ng1196-320; PubMed=8896563 [NCBI, ExPASy, EBI, Israel, Japan]
Lo Ten Foe J.R.,
Rooimans M.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 anaemia gene, FAA.";
Nat. Genet. 14:320-323(1996).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANT SER-501.
DOI=10.1006/geno.1997.4675; PubMed=9169126 [NCBI, ExPASy, EBI, Israel, Japan]
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.,
Savoia A.;
"The genomic organization of the Fanconi anemia group A (FAA) gene.";
Genomics 41:309-314(1997).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
Ricke D.O.,
Bruce D.,
Mundt M.,
Doggett N.,
Munk C.,
Saunders E.,
Robinson D.,
Jones M.,
Buckingham J.,
Chasteen L.,
Thompson S.,
Goodwin L.,
Bryant J.,
Tesmer J.,
Meincke L.,
Longmire J.,
White S.,
Ueng S.,
Tatum O., ![]()
Campbell C.,
Fawcett J.,
Maltbie M.,
Deaven L.;
"Sequencing of human Fanconi anemia complementation group A gene genomic region.";
Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ALA-266; SER-501 AND ASP-809.
NIEHS SNPs program;
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03187; PubMed=15616553 [NCBI, ExPASy, EBI, Israel, Japan]
Martin J.,
Han C.,
Gordon L.A.,
Terry A.,
Prabhakar S.,
She X.,
Xie G.,
Hellsten U.,
Chan Y.M.,
Altherr M.,
Couronne O.,
Aerts A.,
Bajorek E.,
Black S.,
Blumer H.,
Branscomb E.,
Brown N.C.,
Bruno W.J.,
Buckingham J.M., ![]()
Callen D.F.,
Campbell C.S.,
Campbell M.L.,
Campbell E.W.,
Caoile C.,
Challacombe J.F.,
Chasteen L.A.,
Chertkov O.,
Chi H.C.,
Christensen M.,
Clark L.M.,
Cohn J.D.,
Denys M.,
Detter J.C.,
Dickson M.,
Dimitrijevic-Bussod M.,
Escobar J.,
Fawcett J.J.,
Flowers D.,
Fotopulos D.,
Glavina T.,
Gomez M.,
Gonzales E.,
Goodstein D.,
Goodwin L.A.,
Grady D.L.,
Grigoriev I.,
Groza M.,
Hammon N.,
Hawkins T.,
Haydu L.,
Hildebrand C.E.,
Huang W.,
Israni S.,
Jett J.,
Jewett P.B.,
Kadner K.,
Kimball H.,
Kobayashi A.,
Krawczyk M.-C.,
Leyba T.,
Longmire J.L.,
Lopez F.,
Lou Y.,
Lowry S.,
Ludeman T.,
Manohar C.F.,
Mark G.A.,
McMurray K.L.,
Meincke L.J.,
Morgan J.,
Moyzis R.K.,
Mundt M.O.,
Munk A.C.,
Nandkeshwar R.D.,
Pitluck S.,
Pollard M.,
Predki P.,
Parson-Quintana B.,
Ramirez L.,
Rash S.,
Retterer J.,
Ricke D.O.,
Robinson D.L.,
Rodriguez A.,
Salamov A.,
Saunders E.H.,
Scott D.,
Shough T.,
Stallings R.L.,
Stalvey M.,
Sutherland R.D.,
Tapia R.,
Tesmer J.G.,
Thayer N.,
Thompson L.S.,
Tice H.,
Torney D.C.,
Tran-Gyamfi M.,
Tsai M.,
Ulanovsky L.E.,
Ustaszewska A.,
Vo N.,
White P.S.,
Williams A.L.,
Wills P.L.,
Wu J.-R.,
Wu K.,
Yang J.,
DeJong P.,
Bruce D.,
Doggett N.A.,
Deaven L.,
Schmutz J.,
Grimwood J.,
Richardson P.,
Rokhsar D.S.,
Eichler E.E.,
Gilna P.,
Lucas S.M.,
Myers R.M.,
Rubin E.M.,
Pennacchio L.A.;
"The sequence and analysis of duplication-rich human chromosome 16.";
Nature 432:988-994(2004).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ALA-266.
TISSUE=Cervix;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 491-571 AND 610-671, AND VARIANT SER-501.
DOI=10.1006/geno.1998.5353; PubMed=9721219 [NCBI, ExPASy, EBI, Israel, Japan]
Centra M.,
Memeo E.,
D'Apolito M.,
Savino M.,
Ianzano L.,
Notarangelo A.,
Liu J.,
Doggett N.A.,
Zelante L.,
Savoia A.;
"Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.";
Genomics 51:463-467(1998).
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[8]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 491-542.
DOI=10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.3.CO;2-S; PubMed=9711872 [NCBI, ExPASy, EBI, Israel, Japan]
Levran O.,
Doggett N.A.,
Auerbach A.D.;
"Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.";
Hum. Mutat. 12:145-152(1998).
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[9]
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SUBCELLULAR LOCATION, AND MUTAGENESIS.
PubMed=9742112 [NCBI, ExPASy, EBI, Israel, Japan]
Naef D.,
Kupfer G.M.,
Suliman A.,
Lambert K.,
D'Andrea A.D.;
"Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization.";
Mol. Cell. Biol. 18:5952-5960(1998).
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[10]
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IDENTIFICATION IN A COMPLEX WITH FANCC; FANCE; FANCF; FANCG AND FANCL.
DOI=10.1128/MCB.23.10.3417-3426.2003; PubMed=12724401 [NCBI, ExPASy, EBI, Israel, Japan]
Meetei A.R.,
Sechi S.,
Wallisch M.,
Yang D.,
Young M.K.,
Joenje H.,
Hoatlin M.E.,
Wang W.;
"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.";
Mol. Cell. Biol. 23:3417-3426(2003).
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[11]
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PHOSPHORYLATION.
DOI=10.1073/pnas.95.22.13085; PubMed=9789045 [NCBI, ExPASy, EBI, Israel, Japan]
Yamashita T.,
Kupfer G.M.,
Naf D.,
Suliman A.,
Joenje H.,
Asano S.,
D'Andrea A.D.;
"The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation.";
Proc. Natl. Acad. Sci. U.S.A. 95:13085-13090(1998).
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[12]
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IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG AND FANCL.
DOI=10.1038/ng1458; PubMed=15502827 [NCBI, ExPASy, EBI, Israel, Japan]
Meetei A.R.,
Levitus M.,
Xue Y.,
Medhurst A.L.,
Zwaan M.,
Ling C.,
Rooimans M.A.,
Bier P.,
Hoatlin M.,
Pals G.,
de Winter J.P.,
Wang W.,
Joenje H.;
"X-linked inheritance of Fanconi anemia complementation group B.";
Nat. Genet. 36:1219-1224(2004).
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[13]
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IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG; FANCL AND FANCM.
DOI=10.1038/ng1626; PubMed=16116422 [NCBI, ExPASy, EBI, Israel, Japan]
Meetei A.R.,
Medhurst A.L.,
Ling C.,
Xue Y.,
Singh T.R.,
Bier P.,
Steltenpool J.,
Stone S.,
Dokal I.,
Mathew C.G.,
Hoatlin M.,
Joenje H.,
de Winter J.P.,
Wang W.;
"A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.";
Nat. Genet. 37:958-963(2005).
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[14]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-849; SER-850 AND SER-858, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan]
Yu L.-R.,
Zhu Z.,
Chan K.C.,
Issaq H.J.,
Dimitrov D.S.,
Veenstra T.D.;
"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.";
J. Proteome Res. 6:4150-4162(2007).
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[15]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, AND MASS SPECTROMETRY.
DOI=10.1126/science.1140321; PubMed=17525332 [NCBI, ExPASy, EBI, Israel, Japan]
Matsuoka S.,
Ballif B.A.,
Smogorzewska A.,
McDonald E.R. III,
Hurov K.E.,
Luo J.,
Bakalarski C.E.,
Zhao Z.,
Solimini N.,
Lerenthal Y.,
Shiloh Y.,
Gygi S.P.,
Elledge S.J.;
"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.";
Science 316:1160-1166(2007).
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[16]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, AND MASS SPECTROMETRY.
DOI=10.1016/j.molcel.2008.07.007; PubMed=18691976 [NCBI, ExPASy, EBI, Israel, Japan]
Daub H.,
Olsen J.V.,
Bairlein M.,
Gnad F.,
Oppermann F.S.,
Korner R.,
Greff Z.,
Keri G.,
Stemmann O.,
Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
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[17]
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VARIANT FA TYR-1359, AND VARIANTS ALA-266; SER-501 AND ASP-809.
DOI=10.1086/301632; PubMed=9399890 [NCBI, ExPASy, EBI, Israel, Japan]
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) in Italian patients.";
Am. J. Hum. Genet. 61:1246-1253(1997).
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[18]
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VARIANTS FA CYS-435; ARG-492; PRO-817; LEU-1055; GLY-1117; GLU-1128; ALA-1131; PHE-1263 DEL; ARG-1302 AND ASP-1417, AND VARIANTS SER-501; LEU-739; ASP-809 AND ALA-1328.
DOI=10.1073/pnas.94.24.13051; PubMed=9371798 [NCBI, ExPASy, EBI, Israel, Japan]
Levran O.,
Erlich T.,
Magdalena N.,
Gregory J.J.,
Batish S.D.,
Verlander P.C.,
Auerbach A.D.;
"Sequence variation in the Fanconi anemia gene FAA.";
Proc. Natl. Acad. Sci. U.S.A. 94:13051-13056(1997).
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[19]
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VARIANTS FA ASN-598; PRO-1110; LEU-1262; PHE-1263 DEL; LEU-1324 AND ILE-1360.
DOI=10.1086/302627; PubMed=10521298 [NCBI, ExPASy, EBI, Israel, Japan]
Morgan N.V.,
Tipping A.J.,
Joenje H.,
Mathew C.G.;
"High frequency of large intragenic deletions in the Fanconi anemia group A gene.";
Am. J. Hum. Genet. 65:1330-1341(1999).
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[20]
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VARIANTS FA ASN-598; ARG-858 AND PHE-1088.
DOI=10.1038/sj.ejhg.5200248; PubMed=10094191 [NCBI, ExPASy, EBI, Israel, Japan]
Wijker M.,
Morgan N.V.,
Herterich S.,
van Berkel C.G.,
Tipping A.J.,
Gross H.J.,
Gille J.J.,
Pals G.,
Savino M.,
Altay C.,
Mohan S.,
Dokal I.,
Cavenagh J.,
Marsh J.,
van Weel M.,
Ortega J.J.,
Schuler D.,
Samochatova E.,
Karwacki M., ![]()
Bekassy A.N.,
Abecasis M.,
Ebell W.,
Kwee M.L.,
de Ravel T.,
Mathew C.G.;
"Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.";
Eur. J. Hum. Genet. 7:52-59(1999).
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[21]
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VARIANTS FA PRO-1110 AND GLY-1117.
DOI=10.1016/S0301-472X(99)00022-3; PubMed=10210316 [NCBI, ExPASy, EBI, Israel, Japan]
Kupfer G.,
Naef D.,
Garcia-Higuera I.,
Wasik J.,
Cheng A.,
Yamashita T.,
Tipping A.,
Morgan N.,
Mathew C.G.,
D'Andrea A.D.;
"A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.";
Exp. Hematol. 27:587-593(1999).
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[22]
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VARIANT FA TRP-1055.
DOI=10.1007/s100380050106; PubMed=9929978 [NCBI, ExPASy, EBI, Israel, Japan]
Nakamura A.,
Matsuura S.,
Tauchi H.,
Hanada R.,
Ohashi H.,
Hasegawa T.,
Honda K.,
Masuno M.,
Imaizumi K.,
Sugita K.,
Ide T.,
Komatsu K.;
"Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.";
J. Hum. Genet. 44:48-51(1999).
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[23]
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VARIANT FA ARG-858.
DOI=10.1046/j.1365-2141.2000.02323.x; PubMed=11091222 [NCBI, ExPASy, EBI, Israel, Japan]
Tamary H.,
Bar-Yam R.,
Shalmon L.,
Rachavi G.,
Krostichevsky M.,
Elhasid R.,
Barak Y.,
Kapelushnik J.,
Yaniv I.,
Auerbach A.D.,
Zaizov R.;
"Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.";
Br. J. Haematol. 111:338-343(2000).
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[24]
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VARIANT FA PRO-1082.
DOI=10.1007/s100380050203; PubMed=10807541 [NCBI, ExPASy, EBI, Israel, Japan]
Yamada T.,
Tachibana A.,
Shimizu T.,
Mugishima H.,
Okubo M.,
Sasaki M.S.;
"Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.";
J. Hum. Genet. 45:159-166(2000).
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[25]
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VARIANTS FA ARG-210; PRO-660; ASP-843; PRO-869; PRO-1249; LEU-1324; THR-1346 AND HIS-1400, AND VARIANTS GLU-761; GLN-951; TRP-951 AND ALA-1131.
DOI=10.1002/humu.20625; PubMed=17924555 [NCBI, ExPASy, EBI, Israel, Japan]
Ameziane N.,
Errami A.,
Leveille F.,
Fontaine C.,
de Vries Y.,
van Spaendonk R.M.,
de Winter J.P.,
Pals G.,
Joenje H.;
"Genetic subtyping of Fanconi anemia by comprehensive mutation screening.";
Hum. Mutat. 29:159-166(2008).
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[26]
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VARIANTS [LARGE SCALE ANALYSIS] ALA-266; VAL-412; SER-501; ASP-809 AND PHE-1088.
DOI=10.1038/nature07485; PubMed=18987736 [NCBI, ExPASy, EBI, Israel, Japan]
Ley T.J.,
Mardis E.R.,
Ding L.,
Fulton B.,
McLellan M.D.,
Chen K.,
Dooling D.,
Dunford-Shore B.H.,
McGrath S.,
Hickenbotham M.,
Cook L.,
Abbott R.,
Larson D.E.,
Koboldt D.C.,
Pohl C.,
Smith S.,
Hawkins A.,
Abbott S.,
Locke D., ![]()
Hillier L.W.,
Miner T.,
Fulton L.,
Magrini V.,
Wylie T.,
Glasscock J.,
Conyers J.,
Sander N.,
Shi X.,
Osborne J.R.,
Minx P.,
Gordon D.,
Chinwalla A.,
Zhao Y.,
Ries R.E.,
Payton J.E.,
Westervelt P.,
Tomasson M.H.,
Watson M.,
Baty J.,
Ivanovich J.,
Heath S.,
Shannon W.D.,
Nagarajan R.,
Walter M.J.,
Link D.C.,
Graubert T.A.,
DiPersio J.F.,
Wilson R.K.;
"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.";
Nature 456:66-72(2008).
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