NA05289
DNA from Fibroblast
Description:
BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Alternate IDs |
GM17054 [BLOOM SYNDROME; BLM] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Asian
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Ethnicity
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JAPANESE
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
15 |
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| 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 |
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| DNA LIGASE I AND II |
Lehmann et al (Cancer Res 48:6343-6347,1988) reported that size fractionated cell-free extracts of this culture showed an abnormal activity profile for DNA ligase I activity. Two distinct peaks at Mr 200,000 and 400,000 were observed. The 400,000 molecular weight peak was believed to be dimeric material which had never before been observed in extracts prepared from numerous normal cell cultures. DNA ligase II showed a normal activity profile. These authors also reported that they observed normal joining of Okazaki fragments during DNA replication and that this cell culture was more sensitive to cell killing by Dimethyl sulfate than normal cells. |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 1 |
fs:514+1-X; BLOOM SYNDROME |
| Identified Mutation |
1544insA |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 2 |
fs:514+1-X; BLOOM SYNDROME |
| Identified Mutation |
1544insA |
| Remarks |
Clinically affected; B.S. Registry #86; birth weight = 1,920 grams; birth length = 43.5 cm; at age 11 months: weight = 5,290 grams, height = 63.5 cm; small face with hypoplastic malar bone; prominent ears; retruded mandible; high-pitched, squeaky voice; multiple cafe-au-lait spots; depigmented flecks; short stature; facial telangiectasias; photosensitivity; IgA and IgM deficiency; normal serum levels of IgG; increased sister chromatid exchange; chromosome gaps and breaks; donor subject is homozygous for a 1-bp insertion at nucleotide 1544 [1544insA] of the RECQL3 gene resulting in a frameshift and premature termination [fs:514+1-X]. |
| Trikka D, Fang Z, Renwick A, Jones SH, Chakraborty R, Kimmel M, Nelson DL, Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res12(4):627-39 2002 |
| PubMed ID: 11932247 |
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| Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993 |
| PubMed ID: 8242748 |
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| Meyer-Siegler K, Rahman-Mansur N, Wurzer JC, Sirover MA, Proliferative dependent regulation of the glyceraldehyde-3-phosphate dehydrogenase/uracil DNA glycosylase gene in human cells. Carcinogenesis13:2127-32 1992 |
| PubMed ID: 1423884 |
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| 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 |
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| Willis AE, Lindahl T, DNA ligase I deficiency in Bloom's syndrome. Nature325:355-7 1987 |
| PubMed ID: 3808031 |
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| Kawashima H, Sato T, Taniguchi N, Yagi T, Ishizaki K, Takebe H, Bloom's syndrome in a Japanese girl. Clin Genet17:143-8 1980 |
| PubMed ID: 7363500 |
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