Literature DB >> 164028

Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.

K H Kraemer, H G Coon, R A Petinga, S F Barrett, A E Rahe, J H Robbins.   

Abstract

Fibroblast strains from 12 patients with xeroderma pigmentosum had lower than normal rates of DNA repair, as determined by autoradiographic studies of ultraviolet-induced unscheduled nuclear DNA synthesis. The nuclei in binuclear cells, obtained by fusing fibroblasts from certain pairs of these strains, had a greater rate of DNA repair than the nuclei of either strain's unfused mononuclear cells. These results indicate that complementary corrections of the strains' repair defects had occurred in the fused cells. Four complementation groups were found, indicating that at least four mutations caused decreased DNA repair among these 12 strains. The unfused mononuclear cells of each group had a characteristic rate of repair that differed from the rates of the other groups.

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Year:  1975        PMID: 164028      PMCID: PMC432240          DOI: 10.1073/pnas.72.1.59

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  20 in total

1.  Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.

Authors:  J H Robbins; K H Kraemer; M A Lutzner; B W Festoff; H G Coon
Journal:  Ann Intern Med       Date:  1974-02       Impact factor: 25.391

2.  A third complementation group in xeroderma pigmentosum.

Authors:  E A de Weerd-Kastelein; W Keijzer; D Bootsma
Journal:  Mutat Res       Date:  1974-01       Impact factor: 2.433

3.  Prolonged ultraviolet-induced thymidine incorporation into xeroderma pigmentosum lymphocytes: studies on its duration, amount, localization and relationship to hydroxyurea.

Authors:  J H Robbins; K H Kraemer
Journal:  Biochim Biophys Acta       Date:  1972-08-16

4.  DNA repair and radiation sensitivity in human (xeroderma pigmentosum) cells.

Authors:  J E Cleaver
Journal:  Int J Radiat Biol Relat Stud Phys Chem Med       Date:  1970

5.  Defective repair replication of DNA in xeroderma pigmentosum.

Authors:  J E Cleaver
Journal:  Nature       Date:  1968-05-18       Impact factor: 49.962

6.  Repair replication, unscheduled DNA synthesis, and the repair of mammalian DNA.

Authors:  R B Painter; J E Cleaver
Journal:  Radiat Res       Date:  1969-03       Impact factor: 2.841

7.  Ultraviolet-stimulated thymidine incorporation in xeroderma pigmentosum lymphocytes.

Authors:  P G Burk; M A Lutzner; D D Clarke; J H Robbins
Journal:  J Lab Clin Med       Date:  1971-05

8.  Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo.

Authors:  J H Epstein; K Fukuyama; W B Reed; W L Epstein
Journal:  Science       Date:  1970-06-19       Impact factor: 47.728

9.  Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Authors:  H L Nadler; C M Chacko; M Rachmeler
Journal:  Proc Natl Acad Sci U S A       Date:  1970-10       Impact factor: 11.205

10.  Radiation-stimulated DNA synthesis in cultured mammalian cells.

Authors:  R E Rasmussen; R B Painter
Journal:  J Cell Biol       Date:  1966-04       Impact factor: 10.539

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  45 in total

1.  Defective thymine dimer excision by cell-free extracts of xeroderma pigmentosum cells.

Authors:  K Mortelmans; E C Friedberg; H Slor; G Thomas; J E Cleaver
Journal:  Proc Natl Acad Sci U S A       Date:  1976-08       Impact factor: 11.205

2.  Heterokaryons in the analysis of genes and gene regulation.

Authors:  J Zeuthen
Journal:  Humangenetik       Date:  1975

3.  Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus).

Authors:  K Tanaka; M Sekiguchi; Y Okada
Journal:  Proc Natl Acad Sci U S A       Date:  1975-10       Impact factor: 11.205

4.  Levels of DNA polymerases alpha, beta, and gamma in control and repair-deficient human diploid fibroblasts 1.

Authors:  V P Parker; M W Lieberman
Journal:  Nucleic Acids Res       Date:  1977-06       Impact factor: 16.971

5.  Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Authors:  Porcia T Bradford; Alisa M Goldstein; Deborah Tamura; Sikandar G Khan; Takahiro Ueda; Jennifer Boyle; Kyu-Seon Oh; Kyoko Imoto; Hiroki Inui; Shin-Ichi Moriwaki; Steffen Emmert; Kristen M Pike; Arati Raziuddin; Teri M Plona; John J DiGiovanna; Margaret A Tucker; Kenneth H Kraemer
Journal:  J Med Genet       Date:  2010-11-19       Impact factor: 6.318

6.  Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Authors:  Jennifer Boyle; Takahiro Ueda; Kyu-Seon Oh; Kyoko Imoto; Deborah Tamura; Jared Jagdeo; Sikandar G Khan; Carine Nadem; John J Digiovanna; Kenneth H Kraemer
Journal:  Hum Mutat       Date:  2008-10       Impact factor: 4.878

7.  Tumor cell complementation groups based on myogenic potential: evidence for inactivation of loci required for basic helix-loop-helix protein activity.

Authors:  A N Gerber; S J Tapscott
Journal:  Mol Cell Biol       Date:  1996-07       Impact factor: 4.272

Review 8.  An approach to oncological genetics.

Authors:  P Tautu; G Wagner
Journal:  J Cancer Res Clin Oncol       Date:  1984       Impact factor: 4.553

Review 9.  [Chromosomal abnormalities in human neoplasia (author's transl)].

Authors:  C R Bartram; H W Rüdiger
Journal:  Klin Wochenschr       Date:  1978-08-01

10.  A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers.

Authors:  G E Jones; J A Witkowski
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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