메뉴 건너뛰기




Volumn 195, Issue 7, 2015, Pages 3171-3179

Not all SCID pigs are created equally: Two independent mutations in the artemis gene cause SCID in pigs

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTEMIS GENE; ARTICLE; B LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CONTROLLED STUDY; DNA DAMAGE; DNA END JOINING REPAIR; DNA REPAIR; FIBROBLAST; GENE MAPPING; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; IMMUNOPHENOTYPING; INTRON; MACROPHAGE; NONHUMAN; OPEN READING FRAME; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; RADIOSENSITIVITY; RAG1 GENE; RAG2 GENE; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEVERE COMBINED IMMUNODEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE; ADAPTIVE IMMUNITY; ANIMAL; CHROMOSOMAL MAPPING; DNA SEQUENCE; GENETICS; HAPLOTYPE; IMMUNOLOGY; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PIG; RADIATION TOLERANCE;

EID: 84942475255     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1501132     Document Type: Article
Times cited : (36)

References (51)
  • 1
    • 76749147849 scopus 로고    scopus 로고
    • Primary immunodeficiencies
    • Notarangelo, L. D. 2010. Primary immunodeficiencies. J. Allergy Clin. Immunol. 125(2, Suppl. 2): S182-S194.
    • (2010) J. Allergy Clin. Immunol. , vol.125 , Issue.2 , pp. S182-S194
    • Notarangelo, L.D.1
  • 2
    • 79952202248 scopus 로고    scopus 로고
    • Genetics of SCID
    • Cossu, F. 2010. Genetics of SCID. Ital. J. Pediatr. 36: 76.
    • (2010) Ital. J. Pediatr. , vol.36 , pp. 76
    • Cossu, F.1
  • 4
    • 70349574621 scopus 로고    scopus 로고
    • V(D)J recombination deficiencies
    • de Villartay, J. P. 2009. V(D)J recombination deficiencies. Adv. Exp. Med. Biol. 650: 46-58.
    • (2009) Adv. Exp. Med. Biol. , vol.650 , pp. 46-58
    • De Villartay, J.P.1
  • 5
    • 46449113364 scopus 로고    scopus 로고
    • The tumorigenicity of human embryonic stem cells
    • Blum, B., and N. Benvenisty. 2008. The tumorigenicity of human embryonic stem cells. Adv. Cancer Res. 100: 133-158.
    • (2008) Adv. Cancer Res. , vol.100 , pp. 133-158
    • Blum, B.1    Benvenisty, N.2
  • 6
    • 84866080418 scopus 로고    scopus 로고
    • Lessons from human teratomas to guide development of safe stem cell therapies
    • Cunningham, J. J., T. M. Ulbright, M. F. Pera, and L. H. J. Looijenga. 2012. Lessons from human teratomas to guide development of safe stem cell therapies. Nat. Biotechnol. 30: 849-857.
    • (2012) Nat. Biotechnol. , vol.30 , pp. 849-857
    • Cunningham, J.J.1    Ulbright, T.M.2    Pera, M.F.3    Looijenga, L.H.J.4
  • 7
    • 84867898654 scopus 로고    scopus 로고
    • Humanized mice for immune system investigation: Progress, promise and challenges
    • Shultz, L. D., M. A. Brehm, J. V. Garcia-Martinez, and D. L. Greiner. 2012. Humanized mice for immune system investigation: progress, promise and challenges. Nat. Rev. Immunol. 12: 786-798.
    • (2012) Nat. Rev. Immunol. , vol.12 , pp. 786-798
    • Shultz, L.D.1    Brehm, M.A.2    Garcia-Martinez, J.V.3    Greiner, D.L.4
  • 8
    • 84864128667 scopus 로고    scopus 로고
    • Humanized mice: Current states and perspectives
    • Garcia, S., and A. A. Freitas. 2012. Humanized mice: current states and perspectives. Immunol. Lett. 146: 1-7.
    • (2012) Immunol. Lett. , vol.146 , pp. 1-7
    • Garcia, S.1    Freitas, A.A.2
  • 9
    • 84860871911 scopus 로고    scopus 로고
    • Human allograft rejection in humanized mice: A historical perspective
    • Brehm, M. A., and L. D. Shultz. 2012. Human allograft rejection in humanized mice: a historical perspective. Cell. Mol. Immunol. 9: 225-231.
    • (2012) Cell. Mol. Immunol. , vol.9 , pp. 225-231
    • Brehm, M.A.1    Shultz, L.D.2
  • 10
    • 1342303482 scopus 로고    scopus 로고
    • Of mice and not men: Differences between mouse and human immunology
    • Mestas, J., and C. C. W. Hughes. 2004. Of mice and not men: differences between mouse and human immunology. J. Immunol. 172: 2731-2738.
    • (2004) J. Immunol. , vol.172 , pp. 2731-2738
    • Mestas, J.1    Hughes, C.C.W.2
  • 12
    • 84861563471 scopus 로고    scopus 로고
    • Large animal induced pluripotent stem cells as pre-clinical models for studying human disease
    • Plews, J. R., M. Gu, M. T. Longaker, and J. C. Wu. 2012. Large animal induced pluripotent stem cells as pre-clinical models for studying human disease. J. Cell. Mol. Med. 16: 1196-1202.
    • (2012) J. Cell. Mol. Med. , vol.16 , pp. 1196-1202
    • Plews, J.R.1    Gu, M.2    Longaker, M.T.3    Wu, J.C.4
  • 19
    • 84872870047 scopus 로고    scopus 로고
    • Preliminary findings of a previously unrecognized porcine primary immunodeficiency disorder
    • Ozuna, A. G., R. R. Rowland, J. C. Nietfeld, M. A. Kerrigan, J. C. Dekkers, and C. R. Wyatt. 2013. Preliminary findings of a previously unrecognized porcine primary immunodeficiency disorder. Vet. Pathol. 50: 144-146.
    • (2013) Vet. Pathol. , vol.50 , pp. 144-146
    • Ozuna, A.G.1    Rowland, R.R.2    Nietfeld, J.C.3    Kerrigan, M.A.4    Dekkers, J.C.5    Wyatt, C.R.6
  • 20
    • 38949149635 scopus 로고    scopus 로고
    • Selection response and genetic parameters for residual feed intake in Yorkshire swine
    • Cai, W., D. S. Casey, and J. C. M. Dekkers. 2008. Selection response and genetic parameters for residual feed intake in Yorkshire swine. J. Anim. Sci. 86: 287-298.
    • (2008) J. Anim. Sci. , vol.86 , pp. 287-298
    • Cai, W.1    Casey, D.S.2    Dekkers, J.C.M.3
  • 23
    • 77954542506 scopus 로고    scopus 로고
    • Optimization of square-wave electroporation for transfection of porcine fetal fibroblasts
    • Ross, J. W., J. J. Whyte, J. Zhao, M. Samuel, K. D. Wells, and R. S. Prather. 2010. Optimization of square-wave electroporation for transfection of porcine fetal fibroblasts. Transgenic Res. 19: 611-620.
    • (2010) Transgenic Res. , vol.19 , pp. 611-620
    • Ross, J.W.1    Whyte, J.J.2    Zhao, J.3    Samuel, M.4    Wells, K.D.5    Prather, R.S.6
  • 28
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens, M., N. J. Smith, and P. Donnelly. 2001. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68: 978-989.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 30
    • 84930274199 scopus 로고    scopus 로고
    • Response of pigs divergently selected for residual feed intake to experimental infection with the PRRS virus
    • Dunkelberger, J., N. Boddicker, N. Serão, J. Young, R. Rowland, and J. Dekkers. 2015. Response of pigs divergently selected for residual feed intake to experimental infection with the PRRS virus. Livest. Sci. 177: 132-141.
    • (2015) Livest. Sci. , vol.177 , pp. 132-141
    • Dunkelberger, J.1    Boddicker, N.2    Serão, N.3    Young, J.4    Rowland, R.5    Dekkers, J.6
  • 31
    • 57149083059 scopus 로고    scopus 로고
    • The ontogeny of the porcine immune system
    • Sinkora, M., and J. E. Butler. 2009. The ontogeny of the porcine immune system. Dev. Comp. Immunol. 33: 273-283.
    • (2009) Dev. Comp. Immunol. , vol.33 , pp. 273-283
    • Sinkora, M.1    Butler, J.E.2
  • 32
    • 0034663777 scopus 로고    scopus 로고
    • Early ontogeny of thymocytes in pigs: Sequential colonization of the thymus by T cell progenitors
    • Sinkora, M., J. Sinkora, Z. Reháková, and J. E. Butler. 2000. Early ontogeny of thymocytes in pigs: sequential colonization of the thymus by T cell progenitors. J. Immunol. 165: 1832-1839.
    • (2000) J. Immunol. , vol.165 , pp. 1832-1839
    • Sinkora, M.1    Sinkora, J.2    Reháková, Z.3    Butler, J.E.4
  • 33
    • 33846220015 scopus 로고    scopus 로고
    • Two groups of porcine TCRgd+ thymocytes behave and diverge differently
    • Sinkora, M., J. Sinkorová, Z. Cimburek, and W. Holtmeier. 2007. Two groups of porcine TCRgd+ thymocytes behave and diverge differently. J. Immunol. 178: 711-719.
    • (2007) J. Immunol. , vol.178 , pp. 711-719
    • Sinkora, M.1    Sinkorová, J.2    Cimburek, Z.3    Holtmeier, W.4
  • 34
    • 0025301095 scopus 로고
    • RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination
    • Oettinger, M. A., D. G. Schatz, C. Gorka, and D. Baltimore. 1990. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science 248: 1517-1523.
    • (1990) Science , vol.248 , pp. 1517-1523
    • Oettinger, M.A.1    Schatz, D.G.2    Gorka, C.3    Baltimore, D.4
  • 35
    • 33645321175 scopus 로고    scopus 로고
    • DNA damage: A trigger of innate immunity but a requirement for adaptive immune homeostasis
    • Xu, Y. 2006. DNA damage: a trigger of innate immunity but a requirement for adaptive immune homeostasis. Nat. Rev. Immunol. 6: 261-270.
    • (2006) Nat. Rev. Immunol. , vol.6 , pp. 261-270
    • Xu, Y.1
  • 36
    • 0036240127 scopus 로고    scopus 로고
    • The mechanism and regulation of chromosomal V(D)J recombination
    • Bassing, C. H., W. Swat, and F. W. Alt. 2002. The mechanism and regulation of chromosomal V(D)J recombination. Cell 109(Suppl.): S45-S55.
    • (2002) Cell , vol.109 , pp. S45-S55
    • Bassing, C.H.1    Swat, W.2    Alt, F.W.3
  • 37
    • 74749107158 scopus 로고    scopus 로고
    • Radiosensitive severe combined immunodeficiency disease
    • Dvorak, C. C., and M. J. Cowan. 2010. Radiosensitive severe combined immunodeficiency disease. Immunol. Allergy Clin. North Am. 30: 125-142.
    • (2010) Immunol. Allergy Clin. North Am. , vol.30 , pp. 125-142
    • Dvorak, C.C.1    Cowan, M.J.2
  • 40
    • 0037097787 scopus 로고    scopus 로고
    • A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans
    • Li, L., D. Moshous, Y. Zhou, J.Wang, G. Xie, E. Salido, D. Hu, J.-P. de Villartay, and M. J. Cowan. 2002. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J. Immunol. 168: 6323-6329.
    • (2002) J. Immunol. , vol.168 , pp. 6323-6329
    • Li, L.1    Moshous, D.2    Zhou, Y.3    Wang, J.4    Xie, G.5    Salido, E.6    Hu, D.7    De Villartay, J.-P.8    Cowan, M.J.9
  • 42
    • 0037102538 scopus 로고    scopus 로고
    • Metallob-lactamase fold within nucleic acids processing enzymes: The b-CASP family
    • Callebaut, I., D. Moshous, J.-P. Mornon, and J.-P. de Villartay. 2002. Metallob-lactamase fold within nucleic acids processing enzymes: the b-CASP family. Nucleic Acids Res. 30: 3592-3601.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 3592-3601
    • Callebaut, I.1    Moshous, D.2    Mornon, J.-P.3    De Villartay, J.-P.4
  • 43
    • 1342300521 scopus 로고    scopus 로고
    • The metallo-b-lactamase/b-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination
    • Poinsignon, C., D. Moshous, I. Callebaut, R. de Chasseval, I. Villey, and J.-P. de Villartay. 2004. The metallo-b-lactamase/b-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination. J. Exp. Med. 199: 315-321.
    • (2004) J. Exp. Med. , vol.199 , pp. 315-321
    • Poinsignon, C.1    Moshous, D.2    Callebaut, I.3    De Chasseval, R.4    Villey, I.5    De Villartay, J.-P.6
  • 45
    • 65549167891 scopus 로고    scopus 로고
    • Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability
    • Huang, Y., W. Giblin, M. Kubec, G. Westfield, J. St Charles, L. Chadde, S. Kraftson, and J. Sekiguchi. 2009. Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability. J. Exp. Med. 206: 893-908.
    • (2009) J. Exp. Med. , vol.206 , pp. 893-908
    • Huang, Y.1    Giblin, W.2    Kubec, M.3    Westfield, G.4    St Charles, J.5    Chadde, L.6    Kraftson, S.7    Sekiguchi, J.8
  • 46
    • 78751685654 scopus 로고    scopus 로고
    • A hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis
    • Jacobs, C., Y. Huang, T. Masud, W. Lu, G. Westfield, W. Giblin, and J. M. Sekiguchi. 2011. A hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis. Hum. Mol. Genet. 20: 806-819.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 806-819
    • Jacobs, C.1    Huang, Y.2    Masud, T.3    Lu, W.4    Westfield, G.5    Giblin, W.6    Sekiguchi, J.M.7
  • 50
    • 65449161797 scopus 로고    scopus 로고
    • Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency
    • Neven, B., S. Leroy, H. Decaluwe, F. Le Deist, C. Picard, D. Moshous, N. Mahlaoui, M. Debré, J. L. Casanova, L. Dal Cortivo, et al. 2009. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood 113: 4114-4124.
    • (2009) Blood , vol.113 , pp. 4114-4124
    • Neven, B.1    LeRoy, S.2    Decaluwe, H.3    Le Deist, F.4    Picard, C.5    Moshous, D.6    Mahlaoui, N.7    Debré, M.8    Casanova, J.L.9    Dal Cortivo, L.10
  • 51
    • 58149183672 scopus 로고    scopus 로고
    • A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation
    • Xiao, Z., E. Dunn, K. Singh, I. S. Khan, S. M. Yannone, and M. J. Cowan. 2009. A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation. Biol. Blood Marrow Transplant. 15: 1-11.
    • (2009) Biol. Blood Marrow Transplant. , vol.15 , pp. 1-11
    • Xiao, Z.1    Dunn, E.2    Singh, K.3    Khan, I.S.4    Yannone, S.M.5    Cowan, M.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.