Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death

Mammalian Genome

Volumn 20, Issue 2, 2009, Pages 92-108

  Paul, Erin ^a   Cronan, Rachel ^a   Weston, Paula J ^a   Boekelheide, Kim ^a   Sedivy, John M ^a   Lee, Sang Yun ^b   Wiest, David L ^b   Resnick, Murray B ^a   Klysik, Jan E ^a  

^a BROWN UNIVERSITY   (United States)

^b FOX CHASE CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CRE RECOMBINASE; MX1 PROTEIN; PROTEIN; TAMOXIFEN; UNCLASSIFIED DRUG;

ADIPOSE TISSUE; AGING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; DERMIS; EPIDERMIS; EXON; FAT NECROSIS; FEMALE; GENE; GENE DISRUPTION; GROWTH RETARDATION; ICHTHYOSIS; KERATINOCYTE; LIFESPAN; MALE; MOUSE; MUSCLE ATROPHY; MUSCLE MASS; NONHUMAN; PHENOTYPE; POSTNATAL GROWTH; SKIN ATROPHY; SUBCUTANEOUS TISSUE; SUPV3L1 GENE;

ADIPOSE TISSUE; AGING, PREMATURE; ANIMALS; CACHEXIA; DEAD-BOX RNA HELICASES; EPIDERMIS; HUMANS; ICHTHYOSIS; KYPHOSIS; LONGEVITY; MICE; MICE, KNOCKOUT; MUSCLE, SKELETAL; SKIN; SKIN ABNORMALITIES; TAMOXIFEN;

MUS;

EID: 59649125006     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-008-9168-z     Document Type: Article

References (64)

1. DJ Adams PJ Biggs T Cox R Davies L van der Weyden 2004 Mutagenic insertion and chromosome engineering resource (MICER) Nat Genet 36 867 871
2. H Arnheiter S Skuntz M Noteborn S Chang E Meier 1990 Transgenic mice with intracellular immunity to influenza virus Cell 62 51 61
3. H Babbe N Chester P Leder B Reizis 2007 The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage Mol Cell Biol 27 1947 1959
4. WH Boehncke MP Schon 2007 Animal models of psoriasis Clin Dermatol 25 596 605
5. RA Butow H Zhu P Perlman H Conrad-Webb 1989 The role of a conserved dodecamer sequence in yeast mitochondrial gene expression Genome 31 757 760
6. J Campisi F d'Adda di Fagagna 2007 Cellular senescence: when bad things happen to good cells Nat Rev Mol Cell Biol 8 729 740
7. M Collado MA Blasco M Serrano 2007 Cellular senescence in cancer and aging Cell 130 223 233
8. H Conrad-Webb PS Perlman H Zhu RA Butow 1990 The nuclear SUV3-1 mutation affects a variety of post-transcriptional processes in yeast mitochondria Nucleic Acids Res 18 1369 1376
9. PS Danielian D Muccino DH Rowitch SK Michael AP McMahon 1998 Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase Curr Biol 8 1323 1326
10. J de Boer J de Wit H van Steeg RJ Berg H Morreau 1998 A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy Mol Cell 1 981 990
11. A Dmochowska K Kalita M Krawczyk P Golik K Mroczek 1999 A human putative Suv3-like RNA helicase is conserved between Rhodobacter and all eukaryotes Acta Biochim Pol 46 155 162
12. A Dziembowski J Piwowarski R Hoser M Minczuk A Dmochowska 2003 The yeast mitochondrial degradosome. Its composition, interplay between RNA helicase and RNase activities and the role in mitochondrial RNA metabolism J Biol Chem 278 1603 1611
13. SE Fawell JA Lees R White MG Parker 1990 Characterization and colocalization of steroid binding and dimerization activities in the mouse estrogen receptor Cell 60 953 962
14. HJ Fehling A Krotkova C Saint-Ruf H von Boehmer 1995 Crucial role of the pre-T-cell receptor alpha gene in development of alpha beta but not gamma delta T cells Nature 375 795 798
15. J German 1995 Bloom's syndrome Dermatol Clin 13 7 18
16. M Giorgio M Trinei E Migliaccio PG Pelicci 2007 Hydrogen peroxide: a metabolic by-product or a common mediator of ageing signals? Nat Rev Mol Cell Biol 8 722 728
17. JE Gudjonsson A Johnston M Dyson H Valdimarsson JT Elder 2007 Mouse models of psoriasis J Invest Dermatol 127 1292 1308
18. J Hantke T Rogers L French I Tournev V Guergueltcheva 2003 Refined mapping of the HMSNR critical gene region-construction of a high-density integrated genetic and physical map Neuromuscul Disord 13 729 736
19. S Hayashi AP McMahon 2002 Efficient recombination in diverse tissues by a tamoxifen-inducible form of Cre: a tool for temporally regulated gene activation/inactivation in the mouse Dev Biol 244 305 318
20. ID Hickson 2003 RecQ helicases: caretakers of the genome Nat Rev Cancer 3 169 178
21. ES Hoffman L Passoni T Crompton TM Leu DG Schatz 1996 Productive T-cell receptor beta-chain gene rearrangement: coincident regulation of cell cycle and clonality during development in vivo Genes Dev 10 948 962
22. Y Hoki R Araki A Fujimori T Ohhata H Koseki 2003 Growth retardation and skin abnormalities of the Recql4-deficient mouse Hum Mol Genet 12 2293 2299
23. MA Horisberger K De Staritzky 1989 Expression and stability of the Mx protein in different tissues of mice, in response to interferon inducers or to influenza virus infection J Interferon Res 9 583 590
24. L Khidr G Wu A Davila V Procaccio D Wallace 2008 Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells J Biol Chem 283 27064 27073
25. J Klysik JD Singer 2005 Mice with the enhanced green fluorescent protein gene knocked in to chromosome 11 exhibit normal transmission ratios Biochem Genet 43 321 333
26. R Kuhn F Schwenk M Aguet K Rajewsky 1995 Inducible gene targeting in mice Science 269 1427 1429
27. TD Littlewood DC Hancock PS Danielian MG Parker GI Evan 1995 A modified oestrogen receptor ligand-binding domain as an improved switch for the regulation of heterologous proteins Nucleic Acids Res 23 1686 1690
28. P Liu NA Jenkins NG Copeland 2003 A highly efficient recombineering-based method for generating conditional knockout mutations Genome Res 13 476484
29. C Lloyd QC Yu J Cheng K Turksen L Degenstein 1995 The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14 J Cell Biol 129 1329 1344
30. I Maeda Y Kohara M Yamamoto A Sugimoto 2001 Large-scale analysis of gene function in Caenorhabditis elegans by high-throughput RNAi Curr Biol 11 171 176
31. TM Magin 1998 Lessons from keratin transgenic and knockout mice Subcell Biochem 31 141 172
32. MB Mann CA Hodges E Barnes H Vogel TJ Hassold 2005 Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome Hum Mol Genet 14 813 825
33. SP Margossian H Li HP Zassenhaus RA Butow 1996 The DExH box protein Suv3p is a component of a yeast mitochondrial 3′-to-5′ exoribonuclease that suppresses group I intron toxicity Cell 84 199 209
34. T Mattioni JF Louvion D Picard 1994 Regulation of protein activities by fusion to steroid binding domains Methods Cell Biol 43 Pt A 335 352
35. M Minczuk J Piwowarski MA Papworth K Awiszus S Schalinski 2002 Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA Nucleic Acids Res 30 5074 5086
36. M Minczuk S Mroczek SD Pawlak PP Stepien 2005 Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP FEBS J 272 5008 5019
37. R Moll WW Franke DL Schiller B Geiger R Krepler 1982 The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells Cell 31 11 24
38. JO Nehlin GL Skovgaard VA Bohr 2000 The Werner syndrome. A model for the study of human aging Ann N Y Acad Sci 908 167 179
39. P Oberdoerffer DA Sinclair 2007 The role of nuclear architecture in genomic instability and ageing Nat Rev Mol Cell Biol 8 692 702
40. M Pereira P Mason RJ Szczesny L Maddukuri S Dziwura 2007 Interaction of human SUV3 RNA/DNA helicase with BLM helicase: loss of the SUV3 gene results in mouse embryonic lethality Mech Aging Dev 128 609 617
41. D Picard 1994 Regulation of protein function through expression of chimaeric proteins Curr Opin Biotechnol 5 511 515
42. DE Promislow 1994 DNA repair and the evolution of longevity: a critical analysis J Theor Biol 170 291 300
43. R Ramirez-Solis P Liu A Bradley 1995 Chromosome engineering in mice Nature 378 720 724
44. T Rogers D Chandler D Angelicheva PK Thomas B Youl 2000 A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23 Am J Hum Genet 67 664 671
45. A Schneider Y Zhang Y Guan LS Davis MD Breyer 2003 Differential, inducible gene targeting in renal epithelia, vascular endothelium, and viscera of Mx1Cre mice Am J Physiol Renal Physiol 284 F411 F417
46. MP Schon 1999 Animal models of psoriasis-what can we learn from them? J Invest Dermatol 112 405 410
47. NE Sharpless RA DePinho 2007 How stem cells age and why this makes us grow old Nat Rev Mol Cell Biol 8 703 713
48. Z Shu S Vijayakumar CF Chen PL Chen WH Lee 2004 Purified human SUV3p exhibits multiple-substrate unwinding activity upon conformational change Biochemistry 43 4781 4790
49. P Slijepcevic 2007 DNA damage response, telomere maintenance and ageing in light of the integrative model Mech Ageing Dev 129 11 16
50. PP Stepien SP Margossian D Landsman RA Butow 1992 The yeast nuclear gene suv3 affecting mitochondrial post-transcriptional processes encodes a putative ATP-dependent RNA helicase Proc Natl Acad Sci U S A 89 6813 6817
51. LQ Sun DW Lee Q Zhang W Xiao EH Raabe 2004 Growth retardation and premature aging phenotypes in mice with disruption of the SNF2-like gene, PASG Genes Dev 18 1035 1046
52. RJ Szczesny H Obriot A Paczkowska R Jedrzejczak A Dmochowska 2007 Down-regulation of human RNA/DNA helicase SUV3 induces apoptosis by a caspase- and AIF-dependent pathway Biol Cell 99 323 332
53. RW Taylor DM Turnbull 2005 Mitochondrial DNA mutations in human disease Nat Rev Genet 6 389 402
54. A Terman UT Brunk 2004 Aging as a catabolic malfunction Int J Biochem Cell Biol 36 2365 2375
55. PK Thomas L Kalaydjieva B Youl T Rogers D Angelicheva 2001 Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies Ann Neurol 50 452 457
56. H Tyynismaa KP Mjosund S Wanrooij I Lappalainen E Ylikallio 2005 Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice Proc Natl Acad Sci U S A 102 17687 17692
57. V Vasioukhin L Degenstein B Wise E Fuchs 1999 The magical touch: genome targeting in epidermal stem cells induced by tamoxifen application to mouse skin Proc Natl Acad Sci U S A 96 8551 8556
58. EM Vennos WD James 1995 Rothmund-Thomson syndrome Dermatol Clin 13 143 150
59. EM Vennos M Collins WD James 1992 Rothmund-Thomson syndrome: review of the world literature J Am Acad Dermatol 27 750 762
60. X Wang S Zinkel K Polonsky E Fuchs 1997 Transgenic studies with a keratin promoter-driven growth hormone transgene: prospects for gene therapy Proc Natl Acad Sci U S A 94 219 226
61. S Wanrooij P Luoma G van Goethem C van Broeckhoven A Suomalainen 2004 Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA Nucleic Acids Res 32 3053 3064
62. S Warming N Costantino DL Court NA Jenkins NG Copeland 2005 Simple and highly efficient BAC recombineering using galK selection Nucleic Acids Res 33 e36
63. YP Xia Y Zhao J Marcus PA Jimenez SM Ruben 1999 Effects of keratinocyte growth factor-2 (KGF-2) on wound healing in an ischaemia-impaired rabbit ear model and on scar formation J Pathol 188 431 438
64. H Zhu H Conrad-Webb XS Liao PS Perlman RA Butow 1989 Functional expression of a yeast mitochondrial intron-encoded protein requires RNA processing at a conserved dodecamer sequence at the 3' end of the gene Mol Cell Biol 9 1507 1512