Identification of mutations from phenotype-driven ENU mutagenesis in mouse Chromosome 7

Mammalian Genome

Volumn 16, Issue 8, 2005, Pages 555-566

  Culiat, Cymbeline T ^a   Klebig, Mitchell L ^a,b   Liu, Zhaowei ^c   Monroe, Heidi ^c   Stanford, Beverly ^a   Desai, Jayashree ^a   Tandan, Samvit ^a   Hughes, Lori ^a   Kerley, Marilyn K ^a   Carpenter, Donald A ^a   Johnson, Dabney K ^a   Rinchik, Eugene M ^a,b   Li, Qingbo ^c,d  

^a OAK RIDGE NATIONAL LABORATORY   (United States)

^b UNIVERSITY OF TENNESSEE   (United States)

^c SpectruMedix   (United States)

^d PENNSYLVANIA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ENZYME; ETHYLNITROSOUREA;

AMPLICON; ANALYTIC METHOD; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CAPILLARY ELECTROPHORESIS; CHROMOSOME 7; CONTROLLED STUDY; DENATURATION; EMBRYO; ENZYME ASSAY; FEMALE; GENE STRUCTURE; GENETIC SCREENING; GENOME; HIGH THROUGHPUT SCREENING; MALE; MELTING POINT; MOLECULE; MOUSE; MUTAGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SAMPLING; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPERATURE; TEMPERATURE GRADIENT CAPILLARY ELECTROPHORESIS; WILD TYPE;

ANIMALS; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOMES, MAMMALIAN; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, CAPILLARY; ETHYLNITROSOUREA; HETERODUPLEX ANALYSIS; ISOENZYMES; L-LACTATE DEHYDROGENASE; MICE; MICE, INBRED BALB C; MUTAGENESIS; OXYGENASES; PHENOTYPE; POINT MUTATION; SERUM AMYLOID A PROTEIN;

EID: 25144502842     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-005-0032-0     Document Type: Article

References (37)

1. Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, et al. (2002) Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations. Hum Mutat 20, 65-73
2. Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, et al. (2001) Point mutations in the murine fumarylacetoacetate gene: animal models for the human genetic disorder hereditary tyrosinemia type I. Proc Natl Acad Sci USA 98, 641-645
3. Balling R (2001) ENU mutagenesis: analyzing gene function in mice. Annu Rev Genomics Hum Genet 2, 463-492
4. Bedell MA, Largaespada DA, Jenkins NA, Copeland NG (1997) Mouse models of human disease. Part II. Recent progress and future directions. Genes Dev 11, 11-43
5. Boutin P, Vasseur F, Samson C, Wahl A, Frougel P (2001) Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of dhplc and direct sequencing? Diabetologia 44, 775-778
6. Chen Y, Yee D, Dains K, Chatterjee A, Cavalcoli J, et al. (2000) Genotype-based screen for ENU-induced mutations in mouse embryonic stem cells. Nat Genet 24, 314-317
7. 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
8. Fernandes RJ, Skiena SS (2002) Microarray synthesis through multiple-use PCR primer design. Bioinformatics 1, S128-135
9. Gao Q, Yeung ES (2000) High-throughput detection of unknown mutations by using multiplexed capillary electrophoresis with poly(vinylpyrollidone) solution. Anal Chem 72, 2499-2506
10. Gelfi C, Vigano A, Palma SD, Righetti PG, Righetti SC, et al. (2002) Single-strand conformation polymorphism for p53 mutation by a combination of neutral pH buffer and temperature gradient in capillary electrophoresis. Electrophoresis 10, 1517-1523
11. Hrabe de Angelis M, Strivens M (2001) Large-scale production of mouse phenotypes: The search for animal models for inherited diseases in humans. Brief Bioinform 2, 170-180
12. Hrabe de Angelis MH, Flaswinkel H, Fuchs H Rathkolb B, Soewarto D, et al. (2000) Genome-wide, large scale production of mutant mice by ENU-mutagenesis. Nat Genet 25, 444-447
13. Huang JH, Liao WS (1994) Induction of the serum amyloid A3 gene by cytokines requires both C/EBP family proteins and a novel constitutive nuclear factor. Mol Cell Biol 14, 4475-4484
14. Jansen JG, van Teijlingen CM, Mohn GR, van Zeeland AA, Vrieling H (1994) AT basepairs are the main target for mutations at the Hprt locus of rat skin fibroblasts exposed in vitro to the monofunctional alkylating agent N-ethyl-N-nitrosourea. Mutagenesis 9, 417-421
15. Justice MJ (2000) Capitalizing on large-scale mouse mutagenesis screens. Nat Rev Genet 1, 109-115
16. Kampke T, Kieninger M, Mecklenburg M (2001) Efficient primer design algorithms. Bioinformatics 17, 214-225
17. Klebig ML, Wall MD, Potter MD, Rowe EL, Carpenter DA, et al. (2003) Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice. Proc Natl Acad Sci U S A 100, 8360-8365
18. Klein B, Weirich G, Brauch H (2001) DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene:usefulness and limitations. Hum Genet 108, 376-384
19. Li Q, Liu Z, Monroe M, Culiat CT (2002) Integrated platform for detection of DNA sequence variants using capillary electrophoresis. Electrophoresis 23, 1499-1511
20. Meek RL, Eriksen N, Benditt EP (1992) Murine serum amyloid A3 is a high density apolipoprotein and is secreted by macrophages. Proc Natl Acad Sci U S A 89, 7949-7952
21. Meisler MH (1996) The role of the laboratory mouse in the Human Genome Project. Am J Hum Genet 59, 764-771
22. Moldin SO, Farmer ME, Chin HR, Battey Jr JF (2001) Trans-NIH neuroscience initiatives on mouse phenotyping and mutagenesis. Mamm Genome 12, 575-581
23. Munroe RJ, Bergstrom RA, Zheng QY, Libby B, Smith R, et al. (2000) Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet 24, 318-321
24. Nolan PM, Peters J, Strivens M, Rogers D, Hagan J, et al. (2000) A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat Genet 25, 440-443
25. Pretsch W, Chatterjee B, Favor J, Merkle S, Sandulache R (1998) Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculus. Mamm Genome 9, 144-149
26. 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
27. Rastan S, Hough T, Kierman A, Hardisty R, Erven A, et al. (2004) Towards a mutant map of the mouse - new models of neurologic, behavioral, deafness, bone, renal and blood disorders. Genetica 122, 47-49
28. Rathkolb B, Fuchs E, Kold HJ, Renner-Muller I, Krebs O, et al. (2000) Large-scale N-ethyl-N-nitrosourea mutagenesis of mice - from phenotypes to genes. Exp Physiol 85, 635-644
29. Ravnik-Glavak M, Atkinson A, Glavac D, Dean M (2002) DHPLC screening of cystic fibrosis gene mutations. Hum Mutat 19, 374-383
30. Read JA, Winter VJ, Eszes CM, Sessions RB, Brady RL (2001) Structural basis for altered activity of M- and H-isozyme forms of human lactate dehydrogenase. Proteins 43, 175-185
31. Ribas G, Neville MJ, Campbell RD (2001) Single-nucleotide polymorphism detection by denaturing high-performance liquid chromatography and direct sequencing in genes in the MHC class III region encoding novel cell surface molecules. Immunogenetics 53, 369-381
32. Rinchik EM (1991) Chemical mutagenesis and fine-structure functional analysis of the mouse genome. Trends Genet 7, 15-21
33. Rinchik EM, Carpenter D, Johnson DK (2002) Functional annotation of mammalian genomic DNA sequence by high-efficiency mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15. Proc Natl Acad Sci U S A 99, 844-849
34. Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. In: Bioinformatics methods and protocols: Methods in molecular biology, Krawetz S, Misener S (eds.) (Totowa, NJ: Humana Press) pp 365-386
35. Russell WL, Kelly PR, Hunsicker PR, Bangham JW, Maddux SC (1979) Specific locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proc Natl Acad Sci U S A 76, 5918-5922
36. Soewarto D, Fella C, Teubner A, Rathkolb B, Pargent W, et al. (2000) The large-scale Munich ENU-mouse-mutagenesis screen. Mamm Genome 11, 507-510
37. Yan H, Kinzler KW, Vogelstein B (2000) Genetic testing - present and future. Science 289, 1890-1892