Genetic dissection of NK cell responses

被引：7

作者：

Moussa, Peter ^{[1
,2
]}

Marton, Jennifer ^{[1
,2
]}

Vidal, Silvia M. ^{[1
,2
,3
]}

Fodil-Cornu, Nassima ^{[1
,2
,3
]}

机构：

[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[2] McGill Univ, Dept Microbiol, Montreal, PQ H3A 2T5, Canada

[3] McGill Univ, McGill Ctr Study Host Resistance, Montreal, PQ, Canada

来源：

FRONTIERS IN IMMUNOLOGY | 2013年 / 3卷

关键词：

natural killer cells; genetics; GWAS; QTL; NK deficiency; viruses; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; PAPILLON-LEFEVRE-SYNDROME; NATURAL-KILLER-CELLS; MAJOR HISTOCOMPATIBILITY COMPLEX; HOST-RESISTANCE LOCUS; MEDIATED RESISTANCE; HLA-B; MOUSE CYTOMEGALOVIRUS; ACTIVATING RECEPTORS; INHIBITORY RECEPTORS;

D O I：

10.3389/fimmu.2012.00425

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

The association of Natural Killer (NK) cell deficiencies with disease susceptiblity has established a central role for NK cells in host defence. In this context, genetic approaches have been pivotal in elucidating and characterizing the molecular mechanisms underlying NK cell function. To this end, homozygosity mapping and linkage analysis in humans have identified mutations that impact NK cell function and cause life-threatening diseases. However, several critical restrictions accompany genetic studies in humans. Studying NK cell pathophysiology in a mouse model has therefore proven a useful tool. The relevance of the mouse model is underscored by the similarities that exist between cell-structure-sensing receptors and the downstream signaling that leads to NK cell activation. In this review, we provide an overview of how human and mouse quantitative trait locis (QTLs) have facilitated the identification of genes that modulate NK cell development, recognition, and killing of target cells.

引用

页数：11

共 105 条

[41] Control of HIV-1 viremia and protection from AIDS are associated with HLA-Bw4 homozygosity [J].

Flores-Villanueva, PO ;

Yunis, EJ ;

Delgado, JC ;

Vittinghoff, E ;

Buchbinder, S ;

Leung, JY ;

Uglialoro, AM ;

Clavijo, OP ;

Rosenberg, ES ;

Kalams, SA ;

Braun, JD ;

Boswell, SL ;

Walker, BD ;

Goldfeld, AE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (09) :5140-5145

[42] Ly49h-Deficient C57BL/6 Mice: A New Mouse Cytomegalovirus-Susceptible Model Remains Resistant to Unrelated Pathogens Controlled by the NK Gene Complex [J].

Fodil-Cornu, Nassima ;

Lee, Seung-Hwan ;

Belanger, Simon ;

Makrigiannis, Andrew P. ;

Biron, Christine A. ;

Buller, R. Mark ;

Vidal, Silvia M. .

JOURNAL OF IMMUNOLOGY, 2008, 181 (09) :6394-6405

[43] NK Cell Receptor/H2-Dk-Dependent Host Resistance to Viral Infection Is Quantitatively Modulated by H2q Inhibitory Signals [J].

Fodil-Cornu, Nassima ;

Loredo-Osti, J. Concepcion ;

Vidal, Silvia M. .

PLOS GENETICS, 2011, 7 (04)

[44] The Cmv1 host resistance locus is closely linked to the Ly49 multigene family within the natural killer cell gene complex on mouse chromosome 6 [J].

Forbes, CA ;

Brown, MG ;

Cho, R ;

Shellam, GR ;

Yokoyama, WM ;

Scalzo, AA .

GENOMICS, 1997, 41 (03) :406-413

[45] A sequence-based variation map of 8.27 million SNPs in inbred mouse strains [J].

Frazer, Kelly A. ;

Eskin, Eleazar ;

Kang, Hyun Min ;

Bogue, Molly A. ;

Hinds, David A. ;

Beilharz, Erica J. ;

Gupta, Robert V. ;

Montgomery, Julie ;

Morenzoni, Matt M. ;

Nilsen, Geoffrey B. ;

Pethiyagoda, Charit L. ;

Stuve, Laura L. ;

Johnson, Frank M. ;

Daly, Mark J. ;

Wade, Claire M. ;

Cox, David R. .

NATURE, 2007, 448 (7157) :1050-U8

[46] Expression of KIR2DL1 on the entire NK cell population: a possible novel immunodeficiency syndrome [J].

Gazit, R ;

Garty, BZ ;

Monselise, Y ;

Hoffer, V ;

Finkelstein, Y ;

Markel, G ;

Katz, G ;

Hanna, J ;

Achdout, H ;

Gruda, R ;

Gonen-Gross, T ;

Mandelboim, O .

BLOOD, 2004, 103 (05) :1965-1966

[47] Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency [J].

Gineau, Laure ;

Cognet, Celine ;

Kara, Nihan ;

Lach, Francis Peter ;

Dunne, Jean ;

Veturi, Uma ;

Picard, Capucine ;

Trouillet, Celine ;

Eidenschenk, Celine ;

Aoufouchi, Said ;

Alcais, Alexandre ;

Smith, Owen ;

Geissmann, Frederic ;

Feighery, Conleth ;

Abel, Laurent ;

Smogorzewska, Agata ;

Stillman, Bruce ;

Vivier, Eric ;

Casanova, Jean-Laurent ;

Jouanguy, Emmanuelle .

JOURNAL OF CLINICAL INVESTIGATION, 2012, 122 (03) :821-832

[48] INFLUENCE OF H-2 AND NON-H-2 GENES ON RESISTANCE TO MURINE CYTOMEGALOVIRUS-INFECTION [J].

GRUNDY, JE ;

MACKENZIE, JS ;

STANLEY, NF .

INFECTION AND IMMUNITY, 1981, 32 (01) :277-286

[49] A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer [J].

Gudmundsson, Julius ;

Sulem, Patrick ;

Gudbjartsson, Daniel F. ;

Masson, Gisli ;

Agnarsson, Bjarni A. ;

Benediktsdottir, Kristrun R. ;

Sigurdsson, Asgeir ;

Magnusson, Olafur Th ;

Gudjonsson, Sigurjon A. ;

Magnusdottir, Droplaug N. ;

Johannsdottir, Hrefna ;

Helgadottir, Hafdis Th ;

Stacey, Simon N. ;

Jonasdottir, Adalbjorg ;

Olafsdottir, Stefania B. ;

Thorleifsson, Gudmar ;

Jonasson, Jon G. ;

Tryggvadottir, Laufey ;

Navarrete, Sebastian ;

Fuertes, Fernando ;

Helfand, Brian T. ;

Hu, Qiaoyan ;

Csiki, Irma E. ;

Mates, Ioan N. ;

Jinga, Viorel ;

Aben, Katja K. H. ;

van Oort, Inge M. ;

Vermeulen, Sita H. ;

Donovan, Jenny L. ;

Hamdy, Freddy C. ;

Ng, Chi-Fai ;

Chiu, Peter K. F. ;

Lau, Kin-Mang ;

Ng, Maggie C. Y. ;

Gulcher, Jeffrey R. ;

Kong, Augustine ;

Catalona, William J. ;

Mayordomo, Jose I. ;

Einarsson, Gudmundur V. ;

Barkardottir, Rosa B. ;

Jonsson, Eirikur ;

Mates, Dana ;

Neal, David E. ;

Kiemeney, Lambertus A. ;

Thorsteinsdottir, Unnur ;

Rafnar, Thorunn ;

Stefansson, Kari .

NATURE GENETICS, 2012, 44 (12) :1326-1329

[50] THE BW4 PUBLIC EPITOPE OF HLA-B MOLECULES CONFERS REACTIVITY WITH NATURAL-KILLER-CELL CLONES THAT EXPRESS NKB1, A PUTATIVE HLA RECEPTOR [J].

GUMPERZ, JE ;

LITWIN, V ;

PHILLIPS, JH ;

LANIER, LL ;

PARHAM, P .

JOURNAL OF EXPERIMENTAL MEDICINE, 1995, 181 (03) :1133-1144

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