Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response

Mammalian Genome

Volumn 19, Issue 4, 2008, Pages 246-262

  Girirajan, Santhosh ^a   Hauck, Paula M ^a,b   Williams, Stephen ^a   Vlangos, Christopher N ^a,c   Szomju, Barbara B ^a   Solaymani Kohal, Sara ^a   Mosier, Philip D ^a   White Jr , Kimber L ^a   McCoy, Kathleen ^a   Elsea, Sarah H ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b McGuire Research Institute   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD3 ANTIBODY; GENE PRODUCT; GREEN FLUORESCENT PROTEIN; IMMUNOGLOBULIN M; INTERLEUKIN 1 RECEPTOR TYPE I; TARGET OF MYB 1 LIKE 1 PROTEIN; TARGET OF MYB 1 LIKE 2 PROTEIN; TARGET OF MYB 1 PROTEIN; TOLL INTERACTING PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBODY PRODUCING CELL; ANXIETY; ARTICLE; BIOINFORMATICS; CANCER INHIBITION; CONTROLLED STUDY; ENDOCYTOSIS; FLOW CYTOMETRY; GENE; GENE EXPRESSION; GENOTYPE; HISTOPATHOLOGY; IMMUNE RESPONSE; INFECTION RISK; LYMPHOCYTE PROLIFERATION; MOLECULAR MODEL; MOUSE; NATURAL KILLER CELL; NONHUMAN; PHENOTYPE; SMITH MAGENIS SYNDROME; SPLENOMEGALY; STATISTICAL ANALYSIS; TOM1L2 GENE; TRANS GOLGI NETWORK;

AMINO ACID SEQUENCE; ANIMALS; BEHAVIOR, ANIMAL; CERCOPITHECUS AETHIOPS; COS CELLS; GENE TARGETING; HUMANS; MICE; MICE, TRANSGENIC; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION; NEOPLASMS, EXPERIMENTAL; PHENOTYPE; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT; SHEEP; SPLEEN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; THYMUS GLAND; TRANS-GOLGI NETWORK;

MUS;

EID: 42449119665     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-008-9100-6     Document Type: Article

References (65)

1. Akutsu M, Kawasaki M, Katoh Y, Shiba T, Yamaguchi Y et al (2005) Structural basis for recognition of ubiquitinated cargo by Tom1-GAT domain. FEBS Lett 579:5385-5391
2. Aligayer H, Boyd DD, Heiss MM, Abdalla EK, Curley SA et al (2002) Activation of Src kinase in primary colorectal carcinoma: an indicator of poor clinical prognosis. Cancer 94:344-351
3. Amsterdam A, Burgess S, Golling G, Chen W, Sun Z et al (1999) A large-scale insertional mutagenesis screen in zebrafish. Genes Dev 13:2713-2724
4. Atiye J, Wolf M, Kaur S, Monni O, Bohling T et al (2005) Gene amplifications in osteosarcoma-CGH microarray analysis. Genes Chromosomes Cancer 42:158-163
5. Bellen HJ, O'Kane CJ, Wilson C, Grossniklaus U, Pearson RK et al (1989) P-element-mediated enhancer detection: a versatile method to study development in Drosophila. Genes Dev 3:1288-1300
6. Bier E, Vaessin H, Shepherd S, Lee K, McCall K et al (1989) Searching for pattern and mutation in the Drosophila genome with a P-lacZ vector. Genes Dev 3:1273-1287
7. Biscardi JS, Ishizawar RC, Silva CM, Parsons SJ (2000) Tyrosine kinase signalling in breast cancer: epidermal growth factor receptor and c-Src interactions in breast cancer. Breast Cancer Res 2:203-210
8. Bonifacino JS (2004) The GGA proteins: adaptors on the move. Nat Rev Mol Cell Biol 5:23-32
9. Brissoni B, Agostini L, Kropf M, Martinon F, Swoboda V et al (2006) Intracellular trafficking of interleukin-1 receptor I requires Tollip. Curr Biol 16:2265-2270
10. Burk O, Klempnauer KH (1999) Myb and Ets transcription factors cooperate at the myb-inducible promoter of the tom-1 gene. Biochim Biophys Acta 1446:243-252
11. Burk O, Worpenberg S, Haenig B, Klempnauer KH (1997) tom-1, a novel v-Myb target gene expressed in AMV- and E26-transformed myelomonocytic cells. EMBO J 16:1371-1380
12. Chenna R, Sugawara H, Koike T, Lopez R, Gibson TJ et al (2003) Multiple sequence alignment with the clustal series of programs. Nucleic Acids Res 31:3497-3500
13. Christopher JA (1998) SPOCK. Texas A&M University, College Station, TX
14. Crawley JN, Paylor R (1997) A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice. Horm Behav 31:197-211
15. Fiser A, Sali A (2003) Modeller: generation and refinement of homology-based protein structure models. Methods Enzymol 374:461-491
16. Frampton J, Ramqvist T, Graf T (1996) v-Myb of E26 leukemia virus up-regulates bcl-2 and suppresses apoptosis in myeloid cells. Genes Dev 10:2720-2731
17. Franco M, Furstoss O, Simon V, Benistant C, Hong WJ et al (2006) The adaptor protein Tom1L1 is a negative regulator of Src mitogenic signaling induced by growth factors. Mol Cell Biol 26:1932-1947
18. Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD et al (2006) Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med 8:417-427
19. Gossler A, Joyner AL, Rossant J, Skarnes WC (1989) Mouse embryonic stem cells and reporter constructs to detect developmentally regulated genes. Science 244:463-465
20. Grant SG, O'Dell TJ, Karl KA, Stein PL, Soriano P et al (1992) Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice. Science 258:1903-1910
21. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC et al (1991) Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49:1207-1218
22. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J et al (1996) Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247-254
23. Guo TL, McCay JA, Karrow NA, Brown RD, Musgrove DL et al (2001) Immunotoxicity of sodium bromate in female B6C3F1 mice: a 28-day drinking water study. Drug Chem Toxicol 24:129-149
24. Hall TA (1999) BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symp Ser 41:95-98
25. Hartmann CB, McCoy KL (2004) Gallium arsenide exposure impairs processing of particulate antigen by macrophages: modification of the antigen reverses the functional defect. Life Sci 75:485-498
26. Hogg A, Schirm S, Nakagoshi H, Bartley P, Ishii S et al (1997) Inactivation of a c-Myb/estrogen receptor fusion protein in transformed primary cells leads to granulocyte/macrophage differentiation and down regulation of c-kit but not c-myc or cdc2. Oncogene 15:2885-2898
27. Irwin S (1968) Comprehensive observational assessment: Ia. A systematic, quantitative procedure for assessing the behavioral and physiologic state of the mouse. Psychopharmacologia 13:222-257
28. Jerne NK, Nordin AA (1963) Plaque formation in agar by single antibody-producing cells. Science 140:405
29. Katoh Y, Shiba Y, Mitsuhashi H, Yanagida Y, Takatsu H et al (2004) Tollip and Tom1 form a complex and recruit ubiquitin-conjugated proteins onto early endosomes. J Biol Chem 279:24435-24443
30. Katoh Y, Imakagura H, Futatsumori M, Nakayama K (2006) Recruitment of clathrin onto endosomes by the Tom1-Tollip complex. Biochem Biophys Res Commun 341:143-149
31. Kirchhausen T (2000) Clathrin. Annu Rev Biochem 69:699-727
32. Laskowski RA, MacArthur MW, Moss DS, Thornton JM (1993) PROCHECK: a program to check the stereochemical quality of protein structures. J Appl Crystallogr 26:283-291
33. Lewis TA, Munson AE, McCoy KL (1996) Gallium arsenide selectively suppresses antigen processing by splenic macrophages for CD4+ T cell activation. J Pharmacol Exp Ther 278:1244-1251
34. Li W, Marshall C, Mei L, Dzubow L, Schmults C et al (2005) Srcasm modulates EGF and Src-kinase signaling in keratinocytes. J Biol Chem 280:6036-6046
35. Li W, Marshall C, Mei L, Gelfand J, Seykora JT (2007) Srcasm corrects Fyn-induced epidermal hyperplasia by kinase down-regulation. J Biol Chem 282:1161-1169
36. Lohi O, Lehto VP (1998) VHS domain marks a group of proteins involved in endocytosis and vesicular trafficking. FEBS Lett 440:255-257
37. Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH (2001) Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet 9:892-902
38. Luster MI, Munson AE, Thomas PT, Holsapple MP, Fenters JD et al (1988) Development of a testing battery to assess chemical-induced immunotoxicity: National Toxicology Program's guidelines for immunotoxicity evaluation in mice. Fundam Appl Toxicol 10:2-19
39. Misra S, Beach BM, Hurley JH (2000) Structure of the VHS domain of human Tom1 (target of myb-1): insights into interactions with proteins and membranes. Biochemistry 39:11282-11290
40. Oh IH, Reddy EP (1999) The myb gene family in cell growth, differentiation and apoptosis. Oncogene 18:3017-3033
41. Park J, Meisler AI, Cartwright CA (1993) c-Yes tyrosine kinase activity in human colon carcinoma. Oncogene 8:2627-2635
42. Potash JB, Buervenich S, Cox NJ, Zandi PP, Akula N et al (2008) Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: Association with HMG2L1 and TOM1. Am J Med Genet B Neuropsychiatr Genet 147:59-67
43. Puertollano R (2005) Interactions of TOM1L1 with the multivesicular body sorting machinery. J Biol Chem 280:9258-9264
44. Rogers DC, Fisher EM, Brown SD, Peters J, Hunter AJ et al (1997) Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm Genome 8:711-713
45. Sali A, Blundell TL (1993) Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 234:779-815
46. Seet LF, Hong W (2005) Endofin recruits clathrin to early endosomes via TOM1. J Cell Sci 118:575-587
47. Seet LF, Liu N, Hanson BJ, Hong W (2004) Endofin recruits TOM1 to endosomes. J Biol Chem 279:4670-4679
48. Serafini T, Colamarino SA, Leonardo ED, Wang H, Beddington R et al (1996) Netrin-1 is required for commissural axon guidance in the developing vertebrate nervous system. Cell 87:1001-1014
49. Seykora JT, Mei L, Dotto GP, Stein PL (2002) 'Srcasm: a novel Src activating and signaling molecule. J Biol Chem 277:2812-2822
50. Shiba Y, Katoh Y, Shiba T, Yoshino K, Takatsu H et al (2004) GAT (GGA and Tom1) domain responsible for ubiquitin binding and ubiquitination. J Biol Chem 279:7105-7111
51. Skarnes WC, Auerbach BA, Joyner AL (1992) A gene trap approach in mouse embryonic stem cells: the lacZ reported is activated by splicing, reflects endogenous gene expression, and is mutagenic in mice. Genes Dev 6:903-918
52. Skarnes WC, Moss JE, Hurtley SM, Beddington RS (1995) Capturing genes encoding membrane and secreted proteins important for mouse development. Proc Natl Acad Sci U S A 92:6592-6596
53. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH (2003) Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 33:466-468
54. Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J et al (1986) Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24:393-414
55. Stanford WL, Cohn JB, Cordes SP (2001) Gene-trap mutagenesis: past, present and beyond. Nat Rev Genet 2:756-768
56. Stein PL, Lee HM, Rich S, Soriano P (1992) pp59fyn mutant mice display differential signaling in thymocytes and peripheral T cells. Cell 70:41-750
57. Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA et al (2003) BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Nucleic Acids Res 31:278-281
58. Takatsu H, Katoh Y, Shiba Y, Nakayama K (2001) Golgi-localizing, gamma-adaptin ear homology domain, ADP-ribosylation factor-binding (GGA) proteins interact with acidic dileucine sequences within the cytoplasmic domains of sorting receptors through their Vps27p/Hrs/STAM (VHS) domains. J Biol Chem 276:28541-28545
59. Talbot WS, Hopkins N (2000) Zebrafish mutations and functional analysis of the vertebrate genome. Genes Dev 14:755-762
60. van Dartel M, Hulsebos TJ (2004) Amplification and overexpression of genes in 17p11.2-p12 in osteosarcoma. Cancer Genet Cytogenet 153:77-80
61. Voss AK, Thomas T, Gruss P (1998) Efficiency assessment of the gene trap approach. Dev Dyn 212:171-180
62. Yamakami M, Yokosawa H (2004) Tom1 (target of Myb 1) is a novel negative regulator of interleukin-1- and tumor necrosis factor-induced signaling pathways. Biol Pharm Bull 27:564-566
63. Yang HM, Butterworth L, Munson AE, Meade BJ (2003) Respiratory exposure to diesel exhaust particles decreases the spleen IgM response to a T cell-dependent antigen in female B6C3F1 mice. Toxicol Sci 71:207-216
64. Yeo TT, Yang T, Massa SM, Zhang JS, Honkaniemi J et al (1997) Deficient LAR expression decreases basal forebrain cholinergic neuronal size and hippocampal cholinergic innervation. J Neurosci Res 47:348-360
65. Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A et al (2005) Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Mol Genet Metab 85:125-132