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GM16097 Fibroblast from Skin, Unspecified

Description:

IMMUNODEFICIENCY 96; IMD96
LIGASE I, DNA, ATP-DEPENDENT; LIG1

Affected:

Yes

Sex:

Female

Age:

18 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant pSVneo
Sample Source Fibroblast from Skin, Unspecified
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks SV40 (pSVneo) transformed GM16096; hypogammaglobulinemia; syndrome of immunodeficiency, increased sensitivity to DNA-damaging agents, and delayed development attributed to loss of DNA ligase I function; died at the age of 19 years with lymphoma; donor subject was a compound heterozygote, carrying two different missense mutations in the LIG1 gene: the paternal allele showed a substitution of lysine for glutamic acid-566 [GLU566LYS (E566K)] resulting from G-to-A transition and the maternal allele carried an arg771-to-trp mutation [ARG771TRP (R771W)], the result of a C-to-T transition.

Characterizations

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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
 
Gene LIG1
Chromosomal Location 19q13.2-q13.3
Allelic Variant 1 126391.0001; DNA LIGASE I DEFICIENCY
Identified Mutation GLU566LYS; Webster et al. [In: Bridges, B. A.; Harnden, D. G. : Ataxia-telangiectasia: A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency. New York: John Wiley Pp. 379-386 (1982)] described a syndrome of immunodeficiency and increased cellular sensitivity to DNA-damaging agents. The patient had sun sensitivity and stunted growth and died at the age of 19 years with lymphoma [Webster et al. Lancet 339: 1508-1509 (1992)]. Developmental milestones had been delayed; the proband was less than 130 cm tall at age 14 years [Webster et al. Lancet 339: 1508-1509 (1992)].. The cell line derived from the patient, called 46BR, was shown by Barnes et al. [Cell 69: 495-503 (1992)] to contain 2 missense mutations in different alleles of the DNA ligase I gene, i.e., the patient was a compound heterozygote. One allele showed a substitution of lysine for glutamic acid-566 and was presumably derived from the deceased father because the other allele carried an arg771-to-trp mutation (126391.0002) which was present also in the mother of the proband. The cultured fibroblasts exhibited retarded joining of Okazaki fragments during DNA replication and hypersensitivity to a variety of DNA-damaging agents.
 
Gene LIG1
Chromosomal Location 19q13.2-q13.3
Allelic Variant 2 126391.0002; DNA LIGASE I DEFICIENCY
Identified Mutation ARG771TRP; Webster et al. [In: Bridges, B. A.; Harnden, D. G. : Ataxia-telangiectasia: A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency. New York: John Wiley Pp. 379-386 (1982)] described a syndrome of immunodeficiency and increased cellular sensitivity to DNA-damaging agents. The patient had sun sensitivity and stunted growth and died at the age of 19 years with lymphoma [Webster et al. Lancet 339: 1508-1509 (1992)]. Developmental milestones had been delayed; the proband was less than 130 cm tall at age 14 years [Webster et al. Lancet 339: 1508-1509 (1992)].. The cell line derived from the patient, called 46BR, was shown by Barnes et al. [Cell 69: 495-503 (1992)] to contain 2 missense mutations in different alleles of the DNA ligase I gene, i.e., the patient was a compound heterozygote. One allele showed a substitution of lysine for glutamic acid-566 and was presumably derived from the deceased father because the other allele carried an arg771-to-trp mutation (126391.0002) which was present also in the mother of the proband. The cultured fibroblasts exhibited retarded joining of Okazaki fragments during DNA replication and hypersensitivity to a variety of DNA-damaging agents.

Phenotypic Data

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Remarks SV40 (pSVneo) transformed GM16096; hypogammaglobulinemia; syndrome of immunodeficiency, increased sensitivity to DNA-damaging agents, and delayed development attributed to loss of DNA ligase I function; died at the age of 19 years with lymphoma; donor subject was a compound heterozygote, carrying two different missense mutations in the LIG1 gene: the paternal allele showed a substitution of lysine for glutamic acid-566 [GLU566LYS (E566K)] resulting from G-to-A transition and the maternal allele carried an arg771-to-trp mutation [ARG771TRP (R771W)], the result of a C-to-T transition.

Publications

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Muylaert I, Elias P, Knockdown of DNA ligase IV/XRCC4 by RNA interference inhibits herpes simplex virus type I DNA replication The Journal of biological chemistry282:10865-72 2007
PubMed ID: 17296606
 
Barnes DE, Tomkinson AE, Lehmann AR, Webster AD, Lindahl T, Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell69(3):495-503 1992
PubMed ID: 1581963
 
Webster AD, Barnes DE, Arlett CF, Lehmann AR, Lindahl T, Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet339(8808):1508-9 1992
PubMed ID: 1351188
 
Henderson LM, Arlett CF, Harcourt SA, Lehmann AR, Broughton BC, Cells from an immunodeficient patient (46BR) with a defect in DNA ligation are hypomutable but hypersensitive to the induction of sister chromatid exchanges. Proc Natl Acad Sci U S A82:2044-8 1985
PubMed ID: 3856882
 
Squires S, Johnson RT, U.v. induces long-lived DNA breaks in Cockayne's syndrome and cells from an immunodeficient individual (46BR): defects and disturbance in post incision steps of excision repair. Carcinogenesis4(5):565-72 1983
PubMed ID: 6850988
 
Teo IA, Arlett CF, Harcourt SA, Priestley A, Broughton BC, Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies. Mutat Res107:371-86 1983
PubMed ID: 6408472

External Links

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dbSNP dbSNP ID: 22164
Gene Cards LIG1
Gene Ontology GO:0003677 DNA binding
GO:0003910 DNA ligase (ATP) activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0009653 morphogenesis
GO:0016874 ligase activity
NCBI Gene Gene ID:3978
NCBI GTR 126391 LIGASE I, DNA, ATP-DEPENDENT; LIG1
619774 IMMUNODEFICIENCY 96; IMD96
OMIM 126391 LIGASE I, DNA, ATP-DEPENDENT; LIG1
619774 IMMUNODEFICIENCY 96; IMD96

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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