Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
FANCC GENE; FANCC
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| DNA LIGASE I AND II |
Lehmann et al (Cancer Res 48:6343-6347,1988) observed normal DNA ligase I & II activity profiles in size fractionated cell-free extracts of this culture. |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Gene |
FANCC |
| Chromosomal Location |
9q22.3 |
| Allelic Variant 1 |
227645.0003; FANCONI ANEMIA, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS,A>T,+4; Using reverse transcription PCR and chemical mismatch cleavage (CMC), Whitney et al. (Nat Genet 4:202-205, 1993) demonstrated homozygosity for an identical splice mutation in 2 Ashkenazi Jewish patients with Fanconi anemia. Three additional patients bearing this allele were found through screening 21 other families. A single base change in the fourth intronic base changed the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4. They referred to the allele as IVS4+4, A-to-T. |
| |
| Gene |
FANCC |
| Chromosomal Location |
9q22.3 |
| Allelic Variant 2 |
227645.0003; FANCONI ANEMIA, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS,A>T,+4; Using reverse transcription PCR and chemical mismatch cleavage (CMC), Whitney et al. (Nat Genet 4:202-205, 1993) demonstrated homozygosity for an identical splice mutation in 2 Ashkenazi Jewish patients with Fanconi anemia. Three additional patients bearing this allele were found through screening 21 other families. A single base change in the fourth intronic base changed the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4. They referred to the allele as IVS4+4, A-to-T. |
| Remarks |
Clinically affected; complementation group C; pancytopenia; digital anomalies; increased chromosome breakage; mitomycin C induced chromosome aberrations and cell killing; normal DNA ligase I and II activity; donor subject is homozygous for a splice site mutation [IVS4+4A>T] in the FANCC gene in which a single base change in the fourth intronic base changes the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4. |
| de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H, The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum Mol Genet9(18):2665-74 2000 |
| PubMed ID: 11063725 |
| |
| Youssoufian H, Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. J Clin Invest97:2003-10 1996 |
| PubMed ID: 8621788 |
| |
| Saito H, Grompe M, Neeley TL, Jakobs PM, Moses RE, Fanconi anemia cells have a normal gene structure for topoisomerase I. Hum Genet93:583-6 1994 |
| PubMed ID: 8168839 |
| |
| Cohen NA, Egorin MJ, Snyder SW, Ashar B, Wietharn BE, Pan SS, Ross DD, Hilton J, Interaction of N,N',N''-triethylenethiophosphoramide and N,N',N''- triethylenephosphoramide with cellular DNA. Cancer Res51:4360-6 1991 |
| PubMed ID: 1714342 |
| |
| Lehmann AR, Willis AE, Broughton BC, James MR, Steingrimsdottir H, Harcourt SA, Arlett CF, Lindahl T, Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome. Cancer Res48:6343-7 1988 |
| PubMed ID: 3180052 |
| |
| Willis AE, Lindahl T, DNA ligase I deficiency in Bloom's syndrome. Nature325:355-7 1987 |
| PubMed ID: 3808031 |
| |
| Imray FP, Hockey A, Relf W, Ramsay RG, Kidson C, Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. J Med Genet23:72-8 1986 |
| PubMed ID: 3950938 |
| |
| Cohen MM, Fruchtman CE, Simpson SJ, Martin AO, The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. Cytogenet Cell Genet34:230-40 1982 |
| PubMed ID: 6183057 |
| |
| Cohen MM, Sagi M, Ben-Zur Z, Schaap T, Voss R, Kohn G, Ben-Bassat H, Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet Cell Genet23:44-52 1979 |
| PubMed ID: 761484 |
|
|