NA01774
DNA from Fibroblast
Description:
DYSKERATOSIS CONGENITA, X-LINKED; DKC
DYSKERIN; DKC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| 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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White
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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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| PDL at Freeze |
1.96 |
| Passage Frozen |
6 |
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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 |
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| REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA |
DeBauche et al (Am J Hum Genet 46:350-357,1990) reported that examination of the frequency and specificity of X-irradiation-induced G2 chromatid breakage in fibroblasts from this dyskeratosis congenita patient showed that metaphase cells had significantly more chromatid breaks and chromatid gaps than controls. Analysis of banded chromosomes revealed a nonrandom distribution of chromatid aberrations in the patient versus controls. A distribution corresponding to some of the known breakpoints for cancer-specific rearrangements, constitutive fragile sites, and/or loci for cellular proto-oncogenes was observed. |
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| Gene |
DKC1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300126.0002; DYSKERATOSIS CONGENITA, X-LINKED |
| Identified Mutation |
LEU37 DEL; In a patient with dyskeratosis congenita, Heiss et al. (1998) found deletion of nucleotides 201 to 203 (CTT), leading to deletion of leucine-37 from dyskerin.
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| Remarks |
Leukoplakia tongue; dysplastic fingernails and toenails; increased chromosome instability in BrdU treated fibroblasts; hypersensitive to mitomycin-C induced cell killing; donor subject is hemizygous for an in frame 3 bp deletion of nucleotides 201_203 of the DKC1 gene (201_203delCTT) resulting in the deletion of leucine at position 37 [Leu37del]; maternal grandfather was also affected; see GM01775A Lymphoid. |
| Taoka M, Nobe Y, Yamaki Y, Sato K, Ishikawa H, Izumikawa K, Yamauchi Y, Hirota K, Nakayama H, Takahashi N, Isobe T, Landscape of the complete RNA chemical modifications in the human 80S ribosome Nucleic acids research46:9289-9298 2018 |
| PubMed ID: 30202881 |
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| Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ, Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients Nature464(7286):292-6 2010 |
| PubMed ID: 20164838 |
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| Bellodi C, Kopmar N, Ruggero D, Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita The EMBO journal29:1865-76 2009 |
| PubMed ID: 20453831 |
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| Wong JM, Collins K, Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita Genes & development20:2848-58 2006 |
| PubMed ID: 17015423 |
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| Wong JM, Kusdra L, Collins K, Subnuclear shuttling of human telomerase induced by transformation and DNA
damage. Nat Cell Biol4(9):731-6 2002 |
| PubMed ID: 12198499 |
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| Mitchell JR, Wood E, Collins K, A telomerase component is defective in the human disease dyskeratosis congenita. Nature402(6761):551-5 1999 |
| PubMed ID: 10591218 |
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| Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I, X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet19:32-8 1998 |
| PubMed ID: 9590285 |
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| DeBauche DM, Pai GS, Stanley WS, Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet46:350-7 1990 |
| PubMed ID: 2301400 |
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| Nagasawa H, Little JB, Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts. Carcinogenesis4:795-9 1983 |
| PubMed ID: 6409437 |
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| Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484:795-9 1979 |
| PubMed ID: 6409437 |
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