Literature DB >> 19345726

Spectrum of mitochondrial DNA deletions within the common deletion region induced by low levels of UVB irradiation of human keratinocytes in vitro.

Bor-Jang Hwang1, Francis Kuttamperoor, Julia Wu, Mark L Steinberg.   

Abstract

We show that a single low-dose exposure of human epidermal keratinocytes (NHEK) to an FS20 light source in vitro can induce the formation of mitochondrial DNA deletions in a PCR detection assay. We used primer sets specifically designed to exclude amplification of segments containing the common deletion, but which could detect possibly lower abundance deletions generated within the same region of the mitochondrial genome. We characterized eight novel deletions of which six were generated from cut sites within, or adjacent to, short direct repeats. Two deletions involved cut sites in inverted tetrameric repeats; one of these also involved an insertion.

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Year:  2009        PMID: 19345726      PMCID: PMC2706008          DOI: 10.1016/j.gene.2009.03.019

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  18 in total

1.  Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

Authors:  M Yoneda; A Chomyn; A Martinuzzi; O Hurko; G Attardi
Journal:  Proc Natl Acad Sci U S A       Date:  1992-12-01       Impact factor: 11.205

2.  Detection and quantification of mitochondrial DNA deletions.

Authors:  N W Soong; N Arnheim
Journal:  Methods Enzymol       Date:  1996       Impact factor: 1.600

3.  A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.

Authors:  M Tabaku; E Legius; W Robberecht; R Sciot; J P Fryns; J J Cassiman; G Matthijs
Journal:  Genet Couns       Date:  1999

4.  Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome.

Authors:  C Zhang; A Baumer; I R Mackay; A W Linnane; P Nagley
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

5.  Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

Authors:  J L Elson; D C Samuels; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2001-02-06       Impact factor: 11.025

6.  Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Authors:  J M Shoffner; M T Lott; A S Voljavec; S A Soueidan; D A Costigan; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

7.  P nucleotide insertions and the resolution of hairpin DNA structures in mammalian cells.

Authors:  S M Lewis
Journal:  Proc Natl Acad Sci U S A       Date:  1994-02-15       Impact factor: 11.205

8.  Replication strand preference for deletions associated with DNA palindromes.

Authors:  D J Pinder; C E Blake; J C Lindsey; D R Leach
Journal:  Mol Microbiol       Date:  1998-05       Impact factor: 3.501

9.  Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

Authors:  S Mita; R Rizzuto; C T Moraes; S Shanske; E Arnaudo; G M Fabrizi; Y Koga; S DiMauro; E A Schon
Journal:  Nucleic Acids Res       Date:  1990-02-11       Impact factor: 16.971

Review 10.  Mitochondrial disorders.

Authors:  Massimo Zeviani; Stefano Di Donato
Journal:  Brain       Date:  2004-09-09       Impact factor: 13.501

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  1 in total

1.  Selfish little circles: transmission bias and evolution of large deletion-bearing mitochondrial DNA in Caenorhabditis briggsae nematodes.

Authors:  Katie A Clark; Dana K Howe; Kristin Gafner; Danika Kusuma; Sita Ping; Suzanne Estes; Dee R Denver
Journal:  PLoS One       Date:  2012-07-31       Impact factor: 3.240

  1 in total

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