An essential gene mutagenesis screen across the highly conserved piebald deletion region of mouse chromosome 14

Genesis

Volumn 47, Issue 6, 2009, Pages 392-403

  Hagarman, James A ^a   O'Brien, Timothy P ^a  

^a Cornell University ^*  (United States)

Author keywords

Chromosome organization; Development; Genetic screen; Mouse genetics; Mutagenesis

Indexed keywords

ENDOTHELIN RECEPTOR; ENDOTHELIN RECEPTOR B; ETHYLNITROSOUREA; MYC PROTEIN; PROTEIN PHR1; UNCLASSIFIED DRUG;

ALLELISM; ANIMAL EXPERIMENT; ARTICLE; CHROMOSOME 11; CHROMOSOME 14; CHROMOSOME 5; CHROMOSOME 7; CONTROLLED STUDY; EMBRYO; EMBRYO AXIS; ESSENTIAL GENE; FEMALE; FUNCTIONAL GENOMICS; GENE DELETION; GENE DISRUPTION; GENE INTERACTION; GENE LOCUS; GENE MAPPING; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC SCREENING; GENETIC STABILITY; GENETIC TRAIT; GENETIC VARIABILITY; LETHAL MUTANT; LOSS OF FUNCTION MUTATION; MALE; MOUSE; MUTAGENESIS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION;

ALKYLATING AGENTS; AMINO ACID SEQUENCE; ANIMALS; ANIMALS, NEWBORN; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, MAMMALIAN; DNA MUTATIONAL ANALYSIS; ETHYLNITROSOUREA; FEMALE; GENES, ESSENTIAL; GENES, LETHAL; GENOTYPE; LUNG DISEASES; MALE; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTAGENESIS; PHENOTYPE;

EID: 70349173474     PISSN: 1526954X     EISSN: 1526968X     Source Type: Journal    
DOI: 10.1002/dvg.20510     Document Type: Article

References (51)

1. Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, Carpenter DA, Rinchik EM, Culiat CT, Johnson DK. 2001. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Proc Natl Acad Sci USA 98:641-645.
2. Backman M, Machon O, Van Den Bout CJ, Krauss S. 2003. Targeted disruption of mouse Dach1 results in postnatal lethality. Dev Dyn 226:139-144.
3. Baden HP, Champliaud MF, Sundberg JP, Viel A. 2005. Targeted deletion of the sciellin gene resulted in normal development and maturation. Genesis 42:219-228.
4. Bell JA, Rinchik EM, Raymond S, Suffolk R, Jackson IJ. 1995. A high-resolution map of the brown (b, Tyrp1) deletion complex of mouse chromosome 4. Mamm Genome 6:389-395. Bloom AJ, Miller BR, Sanes JR, DiAntonio A. 2007. The requirement for Phr1 in CNS axon tract formation reveals the corticostriatal boundary as a choice point for cortical axons. Genes Dev 21: 2593-2606.
5. Burgess RW, Peterson KA, Johnson MJ, Roix JJ, Welsh IC, O'Brien TP. 2004. Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice. Mol Cell Biol 24:1096-1105.
6. Davis AP, Justice MJ. 1998. An Oak Ridge legacy: The specific locus test and its role in mouse mutagenesis. Genetics 148:7-12.
7. Davis RJ, Shen W, Sandler YI, Amoui M, Purcell P, Maas R, Ou CN, Vogel H, Beaudet AL, Mardon G. 2001. Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality. Mol Cell Biol 21:1484-1490.
8. DiAntonio A, Haghighi AP, Portman SL, Lee JD, Amaranto AM, Goodman CS. 2001. Ubiquitination-dependent mechanisms regulate synaptic growth and function. Nature 412:449-452.
9. Favor J, Neuhauser-Klaus A. 2000. Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. Mamm Genome 11:520-525.
10. Garcia-Garcia MJ, Eggenschwiler JT, Caspary T, Alcorn HL, Wyler MR, Huangfu D, Rakeman AS, Lee JD, Feinberg EH, Timmer JR, Anderson KV. 2005. Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci USA 102:5913-5919.
11. Godinho SI, Maywood ES, Shaw L, Tucci V, Barnard AR, Busino L, Pagano M, Kendall R, Quwailid MM, Romero MR, O'Neill J, Chesham JE, Brooker D, Lalanne Z, Hastings MH, Nolan PM. 2007. The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period. Science 316:897-900.
12. Hagge-Greenberg A, Snow P, O'Brien TP. 2001. Establishing an ENU mutagenesis screen for the piebald region of mouse chromosome 14. Mamm Genome 12:938-941.
13. He Y, Zu T, Benzow KA, Orr HT, Clark HB, Koob MD. 2006. Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. J Neurosci 26:9975-9982.
14. Hentges KE, Pollock DD, Liu B, Justice MJ. 2007. Regional variation in the density of essential genes in mice. PLoS Genet 3:e72.
15. Herron BJ, Lu W, Rao C, Liu S, Peters H, Bronson RT, Justice MJ, McDonald JD, Beier DR. 2002. Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet 30:185-189.
16. Hitotsumachi S, Carpenter DA, Russell WL. 1985. Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia. Proc Natl Acad Sci USA 82:6619-6621.
17. Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79:1267-1276.
18. Kile BT, Hentges KE, Clark AT, Nakamura H, Salinger AP, Liu B, Box N, Stockton DW, Johnson RL, Behringer RR, Bradley A, Justice MJ. 2003. Functional genetic analysis of mouse chromosome 11. Nature 425:81-86.
19. Kile BT, Hilton DJ. 2005. The art and design of genetic screens: mouse. Nat Rev Genet 6:557-567.
20. Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L. 2004. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Hum Mol Genet 13:2893-2906.
21. Kurihara LJ, Semenova E, Levorse JM, Tilghman SM. 2000. Expression and functional analysis of Uch-L3 during mouse development. Mol Cell Biol 20:2498-2504.
22. Kurihara LJ, Semenova E, Miller W, Ingram RS, Guan XJ, Tilghman SM. 2002. Candidate genes required for embryonic development: a comparative analysis of distal mouse chromosome 14 and human chromosome 13q22. Genomics 79:154-161.
23. Metallinos DL, Oppenheimer AJ, Rinchik EM, Russell LB, Dietrich W, Tilghman SM. 1994. Fine structure mapping and deletion analysis of the murine piebald locus. Genetics 136:217-223.
24. Murphy WJ, Larkin DM, Everts-van der Wind A, Bourque G, Tesler G, Auvil L, Beever JE, Chowdhary BP, Galibert F, Gatzke L, Hitte C, Meyers SN, Milan D, Ostrander EA, Pape G, Parker HG, Raudsepp T, Rogatcheva MB, Schook LB, Skow LC, Welge M, Womack JE, O'Brien SJ, Pevzner PA, Lewin HA. 2005. Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps. Science 309:613-617.
25. Nishijima I, Mills A, Qi Y, Mills M, Bradley A. 2003. Two new balancer chromosomes on mouse chromosome 4 to facilitate functional annotation of human chromosome 1p. Genesis 36:142-148.
26. Niswander L, Yee D, Rinchik EM, Russell LB, Magnuson T. 1989. The albino-deletion complex in the mouse defines genes necessary for development of embryonic and extraembryonic ectoderm. Development 105:175-182.
27. Nobrega MA, Ovcharenko I, Afzal V, Rubin EM. 2003. Scanning human gene deserts for long-range enhancers. Science 302:413.
28. O'Brien TP, Frankel WN. 2004. Moving forward with chemical mutagenesis in the mouse. J Physiol 554:13-21.
29. O'Brien TP, Metallinos DL, Chen H, Shin MK, Tilghman SM. 1996. Complementation mapping of skeletal and central nervous system abnormalities in mice of the piebald deletion complex. Genetics 143:447-461.
30. Peterson KA, King BL, Hagge-Greenberg A, Roix JJ, Bult CJ, O'Brien TP. 2002. Functional and comparative genomic analysis of the piebald deletion region of mouse chromosome 14. Genomics 80:172-184.
31. Pollock DD, Larkin JC. 2004. Estimating the degree of saturation in mutant screens. Genetics 168:489-502.
32. Potter MD, Shinpock SG, Popp RA, Godfrey V, Carpenter DA, Bernstein A, Johnson DK, Rinchik EM. 1997. Mutations in the murine fitness 1 gene result in defective hematopoiesis. Blood 90:1850-1857.
33. Poulin F, Nobrega MA, Plajzer-Frick I, Holt A, Afzal V, Rubin EM, Pennacchio LA. 2005. In vivo characterization of a vertebrate ultraconserved enhancer. Genomics 85:774-781.
34. Rinchik EM, Carpenter DA. 1999. N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations. Genetics 152: 373-383.
35. Rinchik EM, Carpenter DA, Johnson DK. 2002. Functional annotation of mammalian genomic DNA sequence by chemical 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 USA 99:844-849.
36. Rinchik EM, Carpenter DA, Selby PB. 1990. A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis. Proc Natl Acad Sci USA 87:896-900.
37. Rinchik EM, Russell LB, Copeland NG, Jenkins NA. 1986. Molecular genetic analysis of the dilute-short ear (d-se) region of the mouse. Genetics 112:321-342.
38. Roix JJ, Hagge-Greenberg A, Bissonnette DM, Rodick S, Russell LB, O'Brien TP. 2001. Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14. Genetics 157:803-815.
39. Russell WL. 1951. X-ray-induced mutations in mice. Cold Spring Harb Symp Quant Biol 16:327-336.
40. Russell WL, Kelly EM, Hunsicker PR, Bangham JW, Maddux SC, Phipps EL. 1979. Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proc Natl Acad Sci USA 76:5818-5819.
41. Schumacher A, Faust C, Magnuson T. 1996. Positional cloning of a global regulator of anterior-posterior patterning in mice. Nature 384:648.
42. Semenova E, Wang X, Jablonski MM, Levorse J, Tilghman SM. 2003. An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina. Hum Mol Genet 12:1301-1312.
43. Sharan SK, Holdener-Kenny B, Ruppert S, Schedl A, Kelsey G, Rinchik EM, Magnuson T. 1991. The albino-deletion complex of the mouse: Molecular mapping of deletion breakpoints that define regions necessary for development of the embryonic and extraembryonic ectoderm. Genetics 129:825-832.
44. Shim K, Minowada G, Coling DE, Martin GR. 2005. Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling. Dev Cell 8:553-564.
45. Shindo T, Manabe I, Fukushima Y, Tobe K, Aizawa K, Miyamoto S, Kawai-Kowase K, Moriyama N, Imai Y, Kawakami H, Nishimatsu H, Ishikawa T, Suzuki T, Morita H, Maemura K, Sata M, Hirata Y, Komukai M, Kagechika H, Kadowaki T, Kurabayashi M, Nagai R. 2002. Kruppel-like zinc-finger transcription factor KLF5/BTEB2 is a target for angiotensin II signaling and an essential regulator of cardiovascular remodeling. Nat Med 8:856-863.
46. Shopland LS, Lynch CR, Peterson KA, Thornton K, Kepper N, Hase J, Stein S, Vincent S, Molloy KR, Kreth G, Cremer C, Bult CJ, O'Brien TP. 2006. Folding and organization of a contiguous chromosome region according to the gene distribution pattern in primary genomic sequence. J Cell Biol 174:27-38.
47. Welsh IC, Hagge-Greenberg A, O'Brien TP. 2007. A dosage-dependent role for Spry2 in growth and patterning during palate development. Mech Dev 124:746-761.
48. Welsh IC, O'Brien TP. 2000. Loss of late primitive streak mesoderm and interruption of left-right morphogenesis in the Ednrb(s-1Acrg) mutant mouse. Dev Biol 225:151-168.
49. Wilson L, Ching YH, Farias M, Hartford SA, Howell G, Shao H, Bucan M, Schimenti JC. 2005. Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. Genome Res 15:1095-1105.
50. Xiang M, Gan L, Zhou L, Klein WH, Nathans J. 1996. Targeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling. Proc Natl Acad Sci USA 93:11950-11955.
51. Zhen M, Huang X, Bamber B, Jin Y. 2000. Regulation of presynaptic terminal organization by C. elegans RPM-1, a putative guanine nucleotide exchanger with a RING-H2 finger domain. Neuron 26:331-343.