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Volumn 9, Issue 1, 2013, Pages

Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations

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ETHYLNITROSOUREA;

EID: 84873500380     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003219     Document Type: Article
Times cited : (38)

References (47)
  • 3
    • 17844408438 scopus 로고    scopus 로고
    • Unraveling innate immunity using large scale N-ethyl-N-nitrosourea mutagenesis
    • Hoebe K, Beutler B, (2005) Unraveling innate immunity using large scale N-ethyl-N-nitrosourea mutagenesis. Tissue antigens 65: 395-401.
    • (2005) Tissue Antigens , vol.65 , pp. 395-401
    • Hoebe, K.1    Beutler, B.2
  • 4
    • 29444433527 scopus 로고    scopus 로고
    • Connecting mammalian genome with phenome by ENU mouse mutagenesis: gene combinations specifying the immune system
    • Papathanasiou P, Goodnow CC, (2005) Connecting mammalian genome with phenome by ENU mouse mutagenesis: gene combinations specifying the immune system. Annu Rev Genet 39: 241-262.
    • (2005) Annu Rev Genet , vol.39 , pp. 241-262
    • Papathanasiou, P.1    Goodnow, C.C.2
  • 5
    • 79955767052 scopus 로고    scopus 로고
    • An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions
    • doi:10.1371/journal.pone.0019357
    • Wansleeben C, van Gurp L, Feitsma H, Kroon C, Rieter E, et al. (2011) An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions. PLoS ONE 6: e19357 doi:10.1371/journal.pone.0019357.
    • (2011) PLoS ONE , vol.6
    • Wansleeben, C.1    van Gurp, L.2    Feitsma, H.3    Kroon, C.4    Rieter, E.5
  • 6
    • 84864384202 scopus 로고    scopus 로고
    • Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse
    • Sun M, Mondal K, Patel V, Horner VL, Long AB, et al. (2012) Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse. G3 (Bethesda, Md) 2: 143-150.
    • (2012) G3 (Bethesda, Md) , vol.2 , pp. 143-150
    • Sun, M.1    Mondal, K.2    Patel, V.3    Horner, V.L.4    Long, A.B.5
  • 7
    • 79953217082 scopus 로고    scopus 로고
    • Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis
    • Arnold CN, Xia Y, Lin P, Ross C, Schwander M, et al. (2011) Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis. Genetics 187: 633-641.
    • (2011) Genetics , vol.187 , pp. 633-641
    • Arnold, C.N.1    Xia, Y.2    Lin, P.3    Ross, C.4    Schwander, M.5
  • 10
    • 0000803318 scopus 로고
    • Construction of multilocus genetic linkage maps in humans
    • Lander ES, Green P, (1987) Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A 84: 2363-2367.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 2363-2367
    • Lander, E.S.1    Green, P.2
  • 11
    • 61449176058 scopus 로고    scopus 로고
    • A kinase-dead allele of Lyn attenuates autoimmune disease normally associated with Lyn deficiency
    • Verhagen AM, Wallace ME, Goradia A, Jones SA, Croom HA, et al. (2009) A kinase-dead allele of Lyn attenuates autoimmune disease normally associated with Lyn deficiency. J Immunol 182: 2020-2029.
    • (2009) J Immunol , vol.182 , pp. 2020-2029
    • Verhagen, A.M.1    Wallace, M.E.2    Goradia, A.3    Jones, S.A.4    Croom, H.A.5
  • 12
    • 0033120081 scopus 로고    scopus 로고
    • Cutting edge: Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: evidence for TLR4 as the Lps gene product
    • Hoshino K, Takeuchi O, Kawai T, Sanjo H, Ogawa T, et al. (1999) Cutting edge: Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: evidence for TLR4 as the Lps gene product. J Immunol 162: 3749-3752.
    • (1999) J Immunol , vol.162 , pp. 3749-3752
    • Hoshino, K.1    Takeuchi, O.2    Kawai, T.3    Sanjo, H.4    Ogawa, T.5
  • 14
    • 0025338542 scopus 로고
    • A dose-response analysis of ethylnitrosourea-induced recessive specific-locus mutations in treated spermatogonia of the mouse
    • Favor J, Sund M, Neuhauser-Klaus A, Ehling UH, (1990) A dose-response analysis of ethylnitrosourea-induced recessive specific-locus mutations in treated spermatogonia of the mouse. Mutation research 231: 47-54.
    • (1990) Mutation Research , vol.231 , pp. 47-54
    • Favor, J.1    Sund, M.2    Neuhauser-Klaus, A.3    Ehling, U.H.4
  • 15
    • 0025785269 scopus 로고
    • ENU mutagenesis in the mouse electrophoretic specific-locus test, 1. Dose-response relationship of electrophoretically-detected mutations arising from mouse spermatogonia treated with ethylnitrosourea
    • Lewis SE, Barnett LB, Sadler BM, Shelby MD, (1991) ENU mutagenesis in the mouse electrophoretic specific-locus test, 1. Dose-response relationship of electrophoretically-detected mutations arising from mouse spermatogonia treated with ethylnitrosourea. Mutation research 249: 311-315.
    • (1991) Mutation Research , vol.249 , pp. 311-315
    • Lewis, S.E.1    Barnett, L.B.2    Sadler, B.M.3    Shelby, M.D.4
  • 18
    • 0033866043 scopus 로고    scopus 로고
    • Sequence-based analysis of mutagenized mice
    • Beier DR, (2000) Sequence-based analysis of mutagenized mice. Mamm Genome 11: 594-597.
    • (2000) Mamm Genome , vol.11 , pp. 594-597
    • Beier, D.R.1
  • 19
    • 0036509698 scopus 로고    scopus 로고
    • A gene-driven approach to the identification of ENU mutants in the mouse
    • Coghill EL, Hugill A, Parkinson N, Davison C, Glenister P, et al. (2002) A gene-driven approach to the identification of ENU mutants in the mouse. Nat Genet 30: 255-256.
    • (2002) Nat Genet , vol.30 , pp. 255-256
    • Coghill, E.L.1    Hugill, A.2    Parkinson, N.3    Davison, C.4    Glenister, P.5
  • 20
    • 3943066275 scopus 로고    scopus 로고
    • A gene-driven ENU-based approach to generating an allelic series in any gene
    • Quwailid MM, Hugill A, Dear N, Vizor L, Wells S, et al. (2004) A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome 15: 585-591.
    • (2004) Mamm Genome , vol.15 , pp. 585-591
    • Quwailid, M.M.1    Hugill, A.2    Dear, N.3    Vizor, L.4    Wells, S.5
  • 21
    • 8544219682 scopus 로고    scopus 로고
    • Mutation rate and predicted phenotypic target sizes in ethylnitrosourea-treated mice
    • Concepcion D, Seburn KL, Wen G, Frankel WN, Hamilton BA, (2004) Mutation rate and predicted phenotypic target sizes in ethylnitrosourea-treated mice. Genetics 168: 953-959.
    • (2004) Genetics , vol.168 , pp. 953-959
    • Concepcion, D.1    Seburn, K.L.2    Wen, G.3    Frankel, W.N.4    Hamilton, B.A.5
  • 22
    • 34447550652 scopus 로고    scopus 로고
    • Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis
    • Takahasi KR, Sakuraba Y, Gondo Y, (2007) Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis. BMC Mol Biol 8: 52.
    • (2007) BMC Mol Biol , vol.8 , pp. 52
    • Takahasi, K.R.1    Sakuraba, Y.2    Gondo, Y.3
  • 24
    • 33847618925 scopus 로고    scopus 로고
    • Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse
    • Barbaric I, Wells S, Russ A, Dear TN, (2007) Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse. Environmental and Molecular Mutagenesis 48: 124-142.
    • (2007) Environmental and Molecular Mutagenesis , vol.48 , pp. 124-142
    • Barbaric, I.1    Wells, S.2    Russ, A.3    Dear, T.N.4
  • 26
    • 0026595075 scopus 로고
    • In vitro DNA replication implicates O2-ethyldeoxythymidine in transversion mutagenesis by ethylating agents
    • Bhanot OS, Grevatt PC, Donahue JM, Gabrielides CN, Solomon JJ, (1992) In vitro DNA replication implicates O2-ethyldeoxythymidine in transversion mutagenesis by ethylating agents. Nucleic Acids Res 20: 587-594.
    • (1992) Nucleic Acids Res , vol.20 , pp. 587-594
    • Bhanot, O.S.1    Grevatt, P.C.2    Donahue, J.M.3    Gabrielides, C.N.4    Solomon, J.J.5
  • 27
    • 0025365311 scopus 로고
    • Use of shuttle vectors to study the molecular processing of defined carcinogen-induced DNA damage: mutagenicity of single O4-ethylthymine adducts in HeLa cells
    • Klein JC, Bleeker MJ, Lutgerink JT, van Dijk WJ, Brugghe HF, et al. (1990) Use of shuttle vectors to study the molecular processing of defined carcinogen-induced DNA damage: mutagenicity of single O4-ethylthymine adducts in HeLa cells. Nucleic Acids Res 18: 4131-4137.
    • (1990) Nucleic Acids Res , vol.18 , pp. 4131-4137
    • Klein, J.C.1    Bleeker, M.J.2    Lutgerink, J.T.3    van Dijk, W.J.4    Brugghe, H.F.5
  • 28
  • 29
    • 80052833627 scopus 로고    scopus 로고
    • Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    • Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, et al. (2011) Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol 12: R85.
    • (2011) Genome Biol , vol.12
    • Smith, K.R.1    Bromhead, C.J.2    Hildebrand, M.S.3    Shearer, A.E.4    Lockhart, P.J.5
  • 31
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene ow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR, (2001) Merlin-rapid analysis of dense genetic maps using sparse gene ow trees. Nat Genet 30: 97-101.
    • (2001) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 32
    • 84860564877 scopus 로고    scopus 로고
    • Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism
    • doi:10.1371/journal.pgen.1002635
    • Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, et al. (2012) Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism. PLoS Genet 8: e1002635 doi:10.1371/journal.pgen.1002635.
    • (2012) PLoS Genet , vol.8
    • Chahrour, M.H.1    Yu, T.W.2    Lim, E.T.3    Ataman, B.4    Coulter, M.E.5
  • 33
    • 79952598349 scopus 로고    scopus 로고
    • Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
    • Rodelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, et al. (2011) Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27: 829-836.
    • (2011) Bioinformatics , vol.27 , pp. 829-836
    • Rodelsperger, C.1    Krawitz, P.2    Bauer, S.3    Hecht, J.4    Bigham, A.W.5
  • 34
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
    • Roach JC, Glusman G, Smit AFA, Huff CD, Hubley R, et al. (2010) Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing. Science 328: 636-639.
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.A.3    Huff, C.D.4    Hubley, R.5
  • 35
    • 33846082255 scopus 로고    scopus 로고
    • A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud
    • Masuya H, Sezutsu H, Sakuraba Y, Sagai T, Hosoya M, et al. (2007) A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud. Genomics 89: 207-214.
    • (2007) Genomics , vol.89 , pp. 207-214
    • Masuya, H.1    Sezutsu, H.2    Sakuraba, Y.3    Sagai, T.4    Hosoya, M.5
  • 36
    • 84864232091 scopus 로고    scopus 로고
    • Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models
    • Andrews TD, Whittle B, Field MA, Balakishnan B, Zhang Y, et al. (2012) Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models. Open biology 2: 120061.
    • (2012) Open Biology , vol.2 , pp. 120061
    • Andrews, T.D.1    Whittle, B.2    Field, M.A.3    Balakishnan, B.4    Zhang, Y.5
  • 38
    • 84863879038 scopus 로고    scopus 로고
    • Fine-Scale Maps of Recombination Rates and Hotspots in the Mouse Genome
    • Brunschwig H, Levi L, Ben-David E, Williams RW, Yakir B, et al. (2012) Fine-Scale Maps of Recombination Rates and Hotspots in the Mouse Genome. Genetics 191: 757-764.
    • (2012) Genetics , vol.191 , pp. 757-764
    • Brunschwig, H.1    Levi, L.2    Ben-David, E.3    Williams, R.W.4    Yakir, B.5
  • 40
    • 0034813659 scopus 로고    scopus 로고
    • Genome-wide ENU mutagenesis to reveal immune regulators
    • Nelms KA, Goodnow CC, (2001) Genome-wide ENU mutagenesis to reveal immune regulators. Immunity 15: 409-418.
    • (2001) Immunity , vol.15 , pp. 409-418
    • Nelms, K.A.1    Goodnow, C.C.2
  • 41
    • 79956307251 scopus 로고    scopus 로고
    • Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads
    • Lunter G, Goodson M, (2011) Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res 21: 936-939.
    • (2011) Genome Res , vol.21 , pp. 936-939
    • Lunter, G.1    Goodson, M.2
  • 42
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H, (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38: e164.
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 43
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: a exible suite of utilities for comparing genomic features
    • Quinlan AR, Hall IM, (2010) BEDTools: a exible suite of utilities for comparing genomic features. Bioinformatics 26: 841-842.
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 44
    • 0024610919 scopus 로고
    • A Tutorial on Hidden Markov-Models and Selected Applications in Speech Recognition
    • Rabiner LR, (1989) A Tutorial on Hidden Markov-Models and Selected Applications in Speech Recognition. Proceedings of the Ieee 77: 257-286.
    • (1989) Proceedings of the Ieee , vol.77 , pp. 257-286
    • Rabiner, L.R.1
  • 45
    • 80053955756 scopus 로고    scopus 로고
    • Integration of SNP genotyping confidence scores in IBD inference
    • Markus B, Birk OS, Geiger D, (2011) Integration of SNP genotyping confidence scores in IBD inference. Bioinformatics 27: 2880-2887.
    • (2011) Bioinformatics , vol.27 , pp. 2880-2887
    • Markus, B.1    Birk, O.S.2    Geiger, D.3
  • 46
    • 84863150047 scopus 로고    scopus 로고
    • Imputation of Single-Nucleotide Polymorphisms in Inbred Mice Using Local Phylogeny
    • Wang JR, de Villena FPM, Lawson HA, Cheverud JM, Churchill GA, et al. (2012) Imputation of Single-Nucleotide Polymorphisms in Inbred Mice Using Local Phylogeny. Genetics 190: 449-458.
    • (2012) Genetics , vol.190 , pp. 449-458
    • Wang, J.R.1    de Villena, F.P.M.2    Lawson, H.A.3    Cheverud, J.M.4    Churchill, G.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.