Striking Immune Phenotypes in Gene-Targeted Mice Are Driven by a Copy-Number Variant Originating from a Commercially Available C57BL/6 Strain

Cell Reports

Volumn 15, Issue 9, 2016, Pages 1901-1909

  Mahajan, Vinay S ^a   Demissie, Ezana ^a   Mattoo, Hamid ^a   Viswanadham, Vinay ^a   Varki, Ajit ^b   Morris, Robert ^a   Pillai, Shiv ^a  

^a MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 5; DOCK2 PROTEIN, MOUSE; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN;

ALLELE; ANIMAL CELL; ARTICLE; BACKCROSSING; C57BL 6 MOUSE; CONTROLLED STUDY; COPY NUMBER VARIATION; DOCK2 GENE; GENE; GENE MUTATION; GENE TARGETING; HOMOZYGOTE; IMMUNOPHENOTYPING; IRF5 GENE; KNOCKOUT MOUSE; MOUSE; NONHUMAN; PRIORITY JOURNAL; ANIMAL; B LYMPHOCYTE; C57BL MOUSE; CD8+ T LYMPHOCYTE; CHROMOSOME; CHROMOSOME SEGREGATION; CROSS BREEDING; EXON; FEMALE; GENE DUPLICATION; GENE LOCUS; GENETIC MARKER; GENETICS; IMMUNOLOGICAL MEMORY; IMMUNOLOGY; INHERITANCE; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ANIMALS; B-LYMPHOCYTES; BASE SEQUENCE; CD8-POSITIVE T-LYMPHOCYTES; CHROMOSOME SEGREGATION; CHROMOSOMES, MAMMALIAN; CROSSES, GENETIC; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE DUPLICATION; GENE TARGETING; GENETIC LOCI; GENETIC MARKERS; GTPASE-ACTIVATING PROTEINS; IMMUNOLOGIC MEMORY; INHERITANCE PATTERNS; MALE; MICE, INBRED C57BL; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84971201127     PISSN: None     EISSN: 22111247     Source Type: Journal    
DOI: 10.1016/j.celrep.2016.04.080     Document Type: Article

References (31)

1. Cariappa A., Takematsu H., Liu H., Diaz S., Haider K., Boboila C., Kalloo G., Connole M., Shi H.N., Varki N., et al. B cell antigen receptor signal strength and peripheral B cell development are regulated by a 9-O-acetyl sialic acid esterase. J. Exp. Med. 2009, 206:125-138.
2. Collins F.S., Rossant J., Wurst W. A mouse for all reasons. Cell 2007, 128:9-13. International Mouse Knockout Consortium.
3. Didion J.P., Yang H., Sheppard K., Fu C.-P., McMillan L., de Villena F.P.-M., Churchill G.A. Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias. BMC Genomics 2012, 13:34.
4. Freeman H.C., Hugill A., Dear N.T., Ashcroft F.M., Cox R.D. Deletion of nicotinamide nucleotide transhydrogenase: a new quantitive trait locus accounting for glucose intolerance in C57BL/6J mice. Diabetes 2006, 55:2153-2156.
5. Fukui Y., Hashimoto O., Sanui T., Oono T., Koga H., Abe M., Inayoshi A., Noda M., Oike M., Shirai T., Sasazuki T. Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration. Nature 2001, 412:826-831.
6. Gotoh K., Tanaka Y., Nishikimi A., Inayoshi A., Enjoji M., Takayanagi R., Sasazuki T., Fukui Y. Differential requirement for DOCK2 in migration of plasmacytoid dendritic cells versus myeloid dendritic cells. Blood 2008, 111:2973-2976.
7. Gotoh K., Tanaka Y., Nishikimi A., Nakamura R., Yamada H., Maeda N., Ishikawa T., Hoshino K., Uruno T., Cao Q., et al. Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation. J. Exp. Med. 2010, 207:721-730.
8. Hedlund M., Tangvoranuntakul P., Takematsu H., Long J.M., Housley G.D., Kozutsumi Y., Suzuki A., Wynshaw-Boris A., Ryan A.F., Gallo R.L., et al. N-glycolylneuraminic acid deficiency in mice: implications for human biology and evolution. Mol. Cell. Biol. 2007, 27:4340-4346.
9. Kumar V., Kim K., Joseph C., Kourrich S., Yoo S.-H., Huang H.C., Vitaterna M.H., de Villena F.P.-M., Churchill G., Bonci A., Takahashi J.S. C57BL/6N mutation in cytoplasmic FMRP interacting protein 2 regulates cocaine response. Science 2013, 342:1508-1512.
10. Kunisaki Y., Tanaka Y., Sanui T., Inayoshi A., Noda M., Nakayama T., Harada M., Taniguchi M., Sasazuki T., Fukui Y. DOCK2 is required in T cell precursors for development of Valpha14 NK T cells. J. Immunol. 2006, 176:4640-4645.
11. Langmead B., Salzberg S.L. Fast gapped-read alignment with Bowtie 2. Nat. Methods 2012, 9:357-359.
12. Mahajan V.S., Pillai S. Sialic acids and autoimmune disease. Immunol. Rev. 2016, 269:145-161.
13. Mattapallil M.J., Wawrousek E.F., Chan C.-C., Zhao H., Roychoudhury J., Ferguson T.A., Caspi R.R. The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes. Invest. Ophthalmol. Vis. Sci. 2012, 53:2921-2927.
14. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., DePristo M.A. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010, 20:1297-1303.
15. Mekada K., Abe K., Murakami A., Nakamura S., Nakata H., Moriwaki K., Obata Y., Yoshiki A. Genetic differences among C57BL/6 substrains. Exp. Anim. 2009, 58:141-149.
16. Nagy A., Rossant J., Nagy R., Abramow-Newerly W., Roder J.C. Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl. Acad. Sci. USA 1993, 90:8424-8428.
17. Naito Y., Takematsu H., Koyama S., Miyake S., Yamamoto H., Fujinawa R., Sugai M., Okuno Y., Tsujimoto G., Yamaji T., et al. Germinal center marker GL7 probes activation-dependent repression of N-glycolylneuraminic acid, a sialic acid species involved in the negative modulation of B-cell activation. Mol. Cell. Biol. 2007, 27:3008-3022.
18. Pillai S., Cariappa A., Pirnie S.P. Esterases and autoimmunity: the sialic acid acetylesterase pathway and the regulation of peripheral B cell tolerance. Trends Immunol. 2009, 30:488-493.
19. Purtha W.E., Swiecki M., Colonna M., Diamond M.S., Bhattacharya D. Spontaneous mutation of the Dock2 gene in Irf5-/- mice complicates interpretation of type I interferon production and antibody responses. Proc. Natl. Acad. Sci. USA 2012, 109:E898-E904. 10.1073/pnas.1118155109.
20. Quinlan A.R., Hall I.M. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 2010, 26:841-842.
21. Reheman A., Tasneem S., Ni H., Hayward C.P.M. Mice with deleted multimerin 1 and alpha-synuclein genes have impaired platelet adhesion and impaired thrombus formation that is corrected by multimerin 1. Thromb. Res. 2010, 125:e177-e183.
22. Sherry S.T., Ward M.H., Kholodov M., Baker J., Phan L., Smigielski E.M., Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001, 29:308-311.
23. Skarnes W.C., Rosen B., West A.P., Koutsourakis M., Bushell W., Iyer V., Mujica A.O., Thomas M., Harrow J., Cox T., et al. A conditional knockout resource for the genome-wide study of mouse gene function. Nature 2011, 474:337-342.
24. Specht C.G., Schoepfer R. Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice. BMC Neurosci. 2001, 2:11.
25. Taft R.A., Davisson M., Wiles M.V. Know thy mouse. Trends Genet. 2006, 22:649-653.
26. Takaoka A., Yanai H., Kondo S., Duncan G., Negishi H., Mizutani T., Kano S., Honda K., Ohba Y., Mak T.W., Taniguchi T. Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. Nature 2005, 434:243-249.
27. Watkins-Chow D.E., Pavan W.J. Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. Genome Res. 2008, 18:60-66.
28. Yalcin B., Adams D.J., Flint J., Keane T.M. Next-generation sequencing of experimental mouse strains. Mamm. Genome 2012, 23:490-498.
29. Yasuda K., Richez C., Maciaszek J.W., Agrawal N., Akira S., Marshak-Rothstein A., Rifkin I.R. Murine dendritic cell type I IFN production induced by human IgG-RNA immune complexes is IFN regulatory factor (IRF)5 and IRF7 dependent and is required for IL-6 production. J. Immunol. 2007, 178:6876-6885.
30. Yasuda K., Nündel K., Watkins A.A., Dhawan T., Bonegio R.G., Ubellacker J.M., Marshak-Rothstein A., Rifkin I.R. Phenotype and function of B cells and dendritic cells from interferon regulatory factor 5-deficient mice with and without a mutation in DOCK2. Int. Immunol. 2013, 25:295-306.
31. Zurita E., Chagoyen M., Cantero M., Alonso R., González-Neira A., López-Jiménez A., López-Moreno J.A., Landel C.P., Benítez J., Pazos F., Montoliu L. Genetic polymorphisms among C57BL/6 mouse inbred strains. Transgenic Res. 2011, 20:481-489.