Cytokine Receptor Genes: Structure, Chromosomal Location, and Involvement in Human Disease

References

• Metcalf D. The hemopoietic regulators—an embarrassment of riches. Bioessays 1992; 14: 799–805
   PubMed Web of Science ®Google Scholar
• Kaushansky K., Karplus P.A. Hematopoietic growth factors: understanding functional diversity in structural terms. Blood 1993; 82: 3229–3240
   PubMed Web of Science ®Google Scholar
• Boulay J.-L., Paul W.E. Hematopoietin sub-family classification based on size, gene organization and sequence homology. Current Biology 1993; 3: 573–581
   PubMed Web of Science ®Google Scholar
• Stahl N., Yancopoulos G.D. The Alphas, Betas, and Kinases of cytokine receptor complexes. Cell 1993; 74: 587–590
   PubMed Web of Science ®Google Scholar
• Bazan J.F. Structural design and molecular evolution of a cytokine receptor superfamily. Proc. Natl. Acad. Sci. USA 1990; 87: 6934–6938
   PubMed Web of Science ®Google Scholar
• Kaczmarski R.S., Mufti G.J. The Cytokine receptor superfamily. Blood reviews 1991; 5: 193–203
   PubMed Web of Science ®Google Scholar
• De Vos A.M., Ultsch M., Kossiakoff A.A. Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 1992; 255: 306–312
   PubMed Web of Science ®Google Scholar
• Goodall G.J., Bagley C.J., Vadas M.A., Lopez A.F. A Model for the interaction of the GM-CSF, IL-3 and IL-5 receptors with their ligands. Growth Factors 1993; 8: 87–97
   PubMed Web of Science ®Google Scholar
• Cosman D., Lyman S.D., Idzerda R.L., Beckmann M.P., Park L.S., Goodwin R.G., March C.J. A new cytokine receptor superfamily. Trends Biochem. Sci. 1990; 15: 265–354
   PubMed Web of Science ®Google Scholar
• Fukunaga R., Ishizaka-Ikeda E., Pan C.X., Seto Y., Nagata S. Functional domains of the granulocyte colony-stimulating factor receptor. EMBO J. 1991; 10: 2855–2865
   PubMed Web of Science ®Google Scholar
• O'Neal Yu- K.D., Lee L.Y. The proline-rich motif (PRM): a novel feature of the cytokine/hematopoietin receptor superfamily. Lymphokine Cytokine Res 1993; 12: 309–312
   PubMedGoogle Scholar
• Kremer E., Baker E., d'Andrea R.J., Slim R., Phillips H., Moretti P.A.B., Lopez A.F., Petit C., Vadas M.A., Sutherland G.R., Goodall G.J. A Cytokine receptor gene cluster in the X-Y pseudoautosomal region?. Blood 1993; 82: 22–28
   PubMed Web of Science ®Google Scholar
• Gearing D.P., Druck T., Huebner K., Overhauser J., Gilbert D.J., Copeland N.G., Jenkins N.A. The leukemia inhibitory factor receptor (LIFR gene is located within a cluster of cytokine receptor loci on mouse chromosome 15 and human chromosome 5p12–p13. Genomics 1993; 18: 148–150
   PubMed Web of Science ®Google Scholar
• Mignotte V., Vigon Boucher I., de Crevecoeur E., Romeo P.H., Lemarchandel V., Chretien S. Structure and transcription of the human c-mpl gene (MPL). Genomics 1994; 20: 5–12
   PubMed Web of Science ®Google Scholar
• Gorman D.M., Itoh N., Kitamura T., Schreurs J., Yonehara S., Yahara I., Arai K., Miyajima A. Cloning and expression of a gene encoding an interleukin 3 receptor-like protein: identification of another member of the cytokine receptor gene family. Proc. Natl. Acad Sci. USA 1990; 87: 5459–5463
   PubMed Web of Science ®Google Scholar
• Nakamura Y., Komatsu N., Nakauchi H. A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells. Science 1992; 257: 1138–1141
   PubMed Web of Science ®Google Scholar
• Nakamura Y., Nakauchi H. A truncated erythropoietin receptor and cell death: a reanalysis [letter]. Science 1994; 264: 588–589
   PubMed Web of Science ®Google Scholar
• Mosley B., Beckmann M.P., March C.J., Idzerda R.L., Gimpel Vanden S.D., Bos T., Friend D., Alpert A., Anderson D., Jackson J., et al. The murine interleukin-4 receptor: molecular cloning and characterization of secreted and membrane bound forms. Cell 1989; 59: 335–348
   PubMed Web of Science ®Google Scholar
• Goodwin R.G., Friend D., Ziegler S.F., Jerzy R., Falk B.A., Gimpel S., Cosman D., Dower S.K., March C.J., Namen A.E., et al. Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily. Cell 1990; 60: 941–951
   PubMed Web of Science ®Google Scholar
• Fukunaga R., Seto Y., Mizushima S., Nagata S. Three different mRNAs encoding human granulocyte colony-stimulating factor receptor. Proc. Natl. Acad. Sci. USA 1990; 87: 8702–8706
   PubMed Web of Science ®Google Scholar
• Larsen A., Davis T., Curtis B.M., Gimpel S., Sims J.E., Cosman D., Park L., Sorensen E., March C.J., Smith C.A. Expression cloning of a human granulocyte colony-stimulating factor receptor: a structural mosaic of hematopoietin receptor, immunoglobulin, and fibronectin domains. J. Exp. Med. 1990; 172: 1559–1570
   PubMed Web of Science ®Google Scholar
• Seto Y., Fukunaga R., Nagata S. Chromosomal gene organization of the human granulocyte colony-stimulating factor receptor. J. Immunol. 1992; 148: 259–266
   PubMed Web of Science ®Google Scholar
• Edery M., Jolicoeur C., Levi-Meyrueis C., Dusanter-Fourt I., Petridol B., Boutin J.-M., Lesueur L., Kelly P.A., Djiane J. Identification and sequence analysis of a second form of prolactin receptor by molecular cloning of complementary DNA from rabbit mammary gland. Proc. Natl. Acad. Sci. USA 1989; 86: 2112–2116
   PubMed Web of Science ®Google Scholar
• Shirota M., Banville D., Ah S., Jolicoeur C., Boutin J.M., Edery M., Djiane J., Kelly P.A. Expression of two forms of prolactin receptor in rat ovary and liver. Mol. Endocrinol. 1990; 4: 1136–1143
   PubMed Web of Science ®Google Scholar
• Jacobs P.A., Strong J.A. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959; 183: 302–303
   PubMed Web of Science ®Google Scholar
• Ford C.E., Miller O.J., Polani P.E., De Almeida J.C., Briggs J.H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1959; i: 711
   Google Scholar
• Welshons W.J., Russell L.B. The Y chromosome as the bearer of male determining factors. Proc. Natl. Acad. Sci. USA 1959; 45: 560–566
   PubMedGoogle Scholar
• Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Giffiths B.L., Smith M.G., Foster J.W., Frischauf A., Lovell-Badge R., Goodfellow P.N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990; 346: 240–244
   PubMed Web of Science ®Google Scholar
• Burgoyne P.S. Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum. Genet. 1982; 61: 85–90
   PubMed Web of Science ®Google Scholar
• Ellis N.A., Goodfellow P.N. The mammalian pseudoautosomal region. Trends Genet. 1989; 5: 406–410
   PubMed Web of Science ®Google Scholar
• Weissenbach J., Levilliers J., Petit C., Rouyer F., Simmler M. Normal and abnormal interchanges between the human X and Y chromosomes. Development (suppl) 1987; 101: 67–74
   Google Scholar
• Rouyer F., Simmler M.C., Johnson C., Vergnaud G., Cook H.J., Weissenbach J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 1986; 319: 291
   PubMed Web of Science ®Google Scholar
• Page D.C., Beiker K., Brown L.G., Hinton S., Leppert M., Lalouel J.M., Lathrop M., Nystrom-Lahti M., de la Chapelle A., White R. Linkage, physical mapping and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics 1987; 1: 243–256
   PubMedGoogle Scholar
• Ellis N.A., Ye T., Patton S., German J., Goodfellow P.N., Weller P. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nature Genet. 1994; 6: 394–399
   PubMed Web of Science ®Google Scholar
• Slim R., Levilliers J., Ludecke H.J., Claussen U., Nguyen V.C., Gough N., Horsthemke B., Petit C. A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X inactivation. Genomics. 1993; 16: 26–33
   PubMed Web of Science ®Google Scholar
• Brown W.R.A. A physical map of the human pseudoautosomal region. EMBO J. 1988; 7: 2377–2385
   PubMed Web of Science ®Google Scholar
• Petit C., Levilliers J., Weissenbach J. Physical mapping of the human pseudoautosomal region; comparison with genetic linkage map. EMBO J. 1988; 7: 2369–2376
   PubMed Web of Science ®Google Scholar
• Cough N.M., Gearing D.P., Nicola N.A., Baker E., Pritchard M., Callen D.F., Sutherland G.R. Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 1990; 345: 734–736
   PubMed Web of Science ®Google Scholar
• Milatovich A., Kitamura T., Miyajima A., Francke U. Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region. Am. J. Hum. Genet. 1893; 53: 1146–1153
   Google Scholar
• Goodfellow P.J., Darling S.M., Thomas M.S., Goodfellow P.N. A pseudoautosomal gene in man. Science 1986; 234: 740–743
   PubMed Web of Science ®Google Scholar
• Yi H., Donahue S.J., Klein D.C., McBride O.W. Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders. Hum. Mol. Genet. 1993; 2: 127–131
   PubMed Web of Science ®Google Scholar
• Ellison J., Passage M., Yu L.C., Yen P., Mohandas T.K., Shapiro L. Directed isolation of human genes that escape X inactivation. Somat. Cell Mol. Genet. 1993; 18: 259–268
   Google Scholar
• Gelin C., Aubrit F., Phalipon A., Raynal B., Cole S., Kaczorek M., Bernard A. The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion processes, is the MIC2 gene product. EMBO J. 1989; 8: 3253–3259
   PubMed Web of Science ®Google Scholar
• Dworzak M.N., Fritsch G., Buchinger P., Fleischer C., Printz D., Zellner A., Schollhammer A., Steiner G., Ambros P.F., Gadner H. Flow cytometric assessment of human MIC2: expression in bone marrow, thymus, and peripheral blood. Blood 1994; 83: 415–425
   PubMed Web of Science ®Google Scholar
• Smith M.J., Goodfellow P.J., Goodfellow P.N. The genomic organisation of the human pseudoautosomal gene MIC2 and the detection of a related locus. Hum. Mol. Genet. 1993; 2: 417–122
   PubMed Web of Science ®Google Scholar
• Crow T.J. Sex chromosomes and psychosis. The case for a pseudoautosomal locus. Br. J. Psychiatry 1988; 153: 675–683
   PubMed Web of Science ®Google Scholar
• Crow T.J. Pseudoautosomal locus for the general dominance gene. Lancet 1989; 2: 339–340
   PubMed Web of Science ®Google Scholar
• d'Amato T., Campion D., Gorwood P., Jay M., Sabate O., Petit C., Abbar M., Malafosse A., Leboyer M., Hillaire D., et al. Evidence for a pseudoautosomal locus for schizophrenia. II: Replication of a non-random segregation of alleles at the DXYS14 locus. Br. J. Psychiatry 1992; 161: 59–62
   PubMed Web of Science ®Google Scholar
• Ogata T., Goodfellow P., Petit C., Aya M., Matsuo N. Short stature in a girl with a terminal Xp deletion distal to DXY15: localisation of a growth gene(s) in the pseudoautosomal region. J. Med. Genet. 1992; 29: 455–459
   PubMed Web of Science ®Google Scholar
• Rappold G., Wilson T., Henke A., Cough N. Arrangement and localization of the human GM-CSF receptor a chain gene within the pseudoautosomal region. Genomics 1992; 14: 455461
   Web of Science ®Google Scholar
• Nakagawa Y., Kosugi H., Miyajima A., Arai K., Yokota T. Structure of the gene encoding the alpha subunit of the human granulocyte-macrophage colony stimulating factor receptor. Implications for the evolution of the cytokine receptor super-family. J. Biol. Chem. 1994; 269: 10905–10912
   PubMed Web of Science ®Google Scholar
• Cozens A.L., Runswick M.I., Walker J.E. DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J. Mol. Biol. 1989; 206: 2161–280
   Web of Science ®Google Scholar
• Efstratiadis A., Posakony J.W., Maniatis T., Lawn R.M., O'Connell C., Spritz R.A., De Riel J.K., Forget B.G., Weissinan S.M., Sightom J.L., Blechl A.E., Smithies O., Baralle F.E., Shoulders C.C., Proudfoot N.J. The structure and evolution of the human b-globin gene family. Cell 1980; 21: 653–665
   PubMed Web of Science ®Google Scholar
• Acampora D., Simeone A., Boncinelli E. Human HOX homeobox genes. Oxf. Surv. Eukaryot. Genes. 1991; 7: 1–28
   PubMedGoogle Scholar
• Warrington A., Baily S.K., Armstrong E., Aprelikova O., Alitalo K., Dolganov G.M., Wilcos A.S., Sikela J., Wolfe S.F., Lovett M., Wasmuth J.J. A radiation hybrid map of 18 growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5. Genomics 1992; 13: 803–808
   PubMed Web of Science ®Google Scholar
• Yang Y., Kovacis S., Kriz R., Wolf S., Clark S.C., Wellems T.F., Nienhuis A., Anti Epstein N. The human genes for GM-CSF and IL-3 are closely linked in tandem on chromosome 5. Blood 1988; 71: 958–961
   PubMed Web of Science ®Google Scholar
• van Leeuwen B.H., Martinson M.E., Webb G.C., Young I.G. Molecular organization of the cytokine gene cluster, involving the human IL-3, 1L-4, IL-5 and GM-CSF genes, on human chromosome 5. Blood 1989; 5: 1142–1148
   Google Scholar
• van Assendelft G.B., Hanscombe O., Grosveld F., Greaves D.R. The β-globin dominant control region activates homologous and heterologous promoters in a tissue-specific manner. Cell 1989; 56: 969
   PubMed Web of Science ®Google Scholar
• Boncinelli E., Simeone A., Acampora D., Gulisano M. Homeobox genes in the developing central nervous system. Ann. Genet. 1993; 36: 30–37
   PubMedGoogle Scholar
• Krumlauf R. Evolulion of the vertebrate Hox homeobox genes. Bioessays 1992; 14: 245–252
   PubMed Web of Science ®Google Scholar
• Cockerill P.N., Shannon M.F., Bert A.G., Ryan G.R., Vadas M.A. The GM-CSF/IL3 locus is regulated by an inducible cyclosporin A sensitive enhancer. Proc. Natl. Acad. Sci. USA 1993; 90: 2466–2470
   PubMed Web of Science ®Google Scholar
• Leary A.G., Yang Y.C., Clark S.C., Gasson J.C., Golde D.W., Ogawa M. Recombinant gibbon IL-3 supports formation of human multilineage colonies and blast cell colonies in culture: Comparison with recombinant human GCM-CSF. Blood 1987; 70: 1343–1348
   PubMed Web of Science ®Google Scholar
• Metcalf D., Beglery C.G., Johnson G.R., Nicola N.A., Vadas M.A., Lopez A.F., Williamson D.J., Wong G.G., Clark S.C., Warig E.A. Biologic properties in vitro of recombinant human granulocyte-macrophage colony-stimulating factor. Blood 1988; 61: 37–45
   Google Scholar
• Mayer P., Valent P., Schmidt G., Liehl E., Bettelheim P. The in vivo effects of recombinant human interleukin-3: demonstration of basophil differentiation factor, histamine-producing activity, and priming of GM-CSF-responsive progenitors in nonhuman primates. Blood 1989; 74: 613–621
   PubMed Web of Science ®Google Scholar
• Lopez A.F., Williamson D.J., Gamble J.R., Begley C.G., Harlan J.M., Klebanoff S.I., Waltersdorph A., Wong G., Clark S.C., Vadas M.A. Recombinant human GM-CSF stimulates in vitro mature human neutrophil and eosinophil function, surface receptor expression, and survival. J. Clin. Invest. 1986; 78: 1220–1228
   PubMed Web of Science ®Google Scholar
• Lopez A.F., To L.B., Yang Y.C., Gamble J.R., Shannon M.F., Burns G.F., Dyson P.C., Juttner C.A., Clark S., Vadas M.A. Stimulation of proliferation, differentiation, and function of human cells by primate IL-3. Proc. Natl. Acad. Sci. USA 1987; 84: 2761–2765
   PubMed Web of Science ®Google Scholar
• Lopez A.F., Dyson P.G., To L.B., Elliott M.J., Milton S.E., Russell J.A., Juttner C.A., Yang Y.C., Clark S.C., Vadas M.A. Recombinant human IL-3 stimulation of hematopoiesis in humans: loss of responsiveness with differentiation in the neutrophilic myeloid series. Blood 1988; 72: 1797–1804
   PubMed Web of Science ®Google Scholar
• Disteche C.M., Brannan C.I., Larsen A., Adler D.A., Schordet D.F., Gearing D.P., Copeland N.G., Jenkins N.A., Park L.S. The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse. Nature Genet. 1992; 1: 333–336
   PubMed Web of Science ®Google Scholar
• Morgan J.G., Dolganov G.M., Robbins S.E., Hinton L.M., Lovett M. The selective isolation of novels cDN As encoded by the regions surrounding the human interleukin 4 and 5 genes. Nucleic Acids Res. 1992; 20: 5171–5179
   Google Scholar
• Foote S., Vollrath D., Hilton A., Page D.C. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 1992; 258: 60–66
   PubMed Web of Science ®Google Scholar
• Tuypens Plaetinck T.G., Baker E., Sutherland G., Brusselle G., Fiers W., Devos R., Tavernier J. Organization and chromosomal localization of the human interleukin 5 receptor alpha-chain gene. Eur. Cytokine. Netw. 1992; 3: 451–459
   PubMedGoogle Scholar
• Takeshita T., Asao H., Ohtani K., Ishii N., Kumaki S., Tanaka N., Munakata H., Nakamura M., Sugamura K. Cloning of the gamma chain of the human IL-2 receptor. Science 1992; 257: 379–382
   PubMed Web of Science ®Google Scholar
• Takeshita T., Ohtani K., Asao H., Kumaki S., Nakamura M., Sugamura K. An associated molecule, p64, with IL-2 receptor beta chain. Its possible involvement in the formation of the functional intermediate-affinity IL-2 receptor complex. J. Immunol. 1992; 148: 2154–2158
   PubMed Web of Science ®Google Scholar
• Sakamaki K., Wang H.M., Miyajima I., Kitamura T., Todokoro K., Harada N., Miyajima A. Ligand-dependent activation of chimeric receptors with the cytoplasmic domain of the in-terleukin-3 receptor beta subunit (beta IL3). J. Bid. Chem. 1993; 268: 15833–15839
   PubMed Web of Science ®Google Scholar
• Chua A.O., Chizzonite R., Desai B.B., Truitt T.P., Nunes P., Minetti L.J., Warrier R.R., Presky D.H., Levine J.F., Gately M.K., Gubler U. Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130. J. Immunol. 1994; 153: 128–136
   PubMed Web of Science ®Google Scholar
• Lutfalla G., Gardiner K., Proudhon D., Vielh E., Uze G. The structure of the human interferon alphalbeta receptor gene. J. Bid. Chem. 1992; 267: 2802–2809
   PubMed Web of Science ®Google Scholar
• Park L.S., Friend D., Price V., Anderson D., Singer J., Prickett K.S., Urdal D.L. Heterogeneity in human interleukin-3 receptors. A subclass that binds human granulocyte/macrophage colony stimulating factor. J. Biol. Chem. 1989; 264: 5420–5427
   PubMed Web of Science ®Google Scholar
• Elliott M.J., Vadas M.A., Eglinton J.M., Park L.S., To L.B., Cleland L.G., Clark S.C., Lopez A.F. Recombinant human interleukin-3 and granulocyte-macrophage colony-stimulating factor show common biological effects and binding characteristics on human monocytes. Blood 1989; 74: 2349–2359
   PubMed Web of Science ®Google Scholar
• Lutfalla G., Gardiner K., Uze G. A new member of the cytokine receptor gene family maps on chromosome 21 at less than 35 kb from IFNAR. Genomics 1993; 16: 366–373
   PubMed Web of Science ®Google Scholar
• Takai S., Yamada K., Hirayama N., Miyajima A., Taniyama T. Mapping of the human gene encoding the mutual signal-transducing subunit (beta-chain) of GM-SCF, IL-3 and IL-5 receptor complexes to chromosome 22q13.1. Hum. Genet. 1994; 93(198)200
   Google Scholar
• Shibuya H., Yoneyama M., Nakamura Y., Harada H., Hatakeyama M., Minamoto S., Kono T., Doi T., White R., Taniguchi T. The human interleukin-2 receptor beta-chain gene: genomic organization, promoter analysis and chromosomal assignment. Nucleic Acids Res. 1990; 18: 3697–3703
   PubMed Web of Science ®Google Scholar
• Gorman D.M., Itoh N., Jenkins N.A., Gilbert D.J., Copeland N.G., Miyajima A. Chromosomal localization and organization of the murine genes encoding the beta subunits (AIC2A and AIC2B) of the interleukin 3, granulocyte/macrophage colony-stimulating factor, and interleukin 5 receptors. J. Biol. Chem. 1992; 267: 15842–15848
   PubMed Web of Science ®Google Scholar
• Inazawa J., Fukunaga R., Seto Y., Nakagawa H., Misawa S., Abe T., Nagata S. Assignment of the human granulocyte colony-stimulating factor receptor gene (CSF3R) to chromosome 1 at region p35-p34.3. Genomics 1991; 10: 1075–1078
   PubMed Web of Science ®Google Scholar
• Winkelmann J.C., Penny L.A., Deaven L.L., Forget B.G., Jenkins R.B. The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p. Blood 1990; 76: 24–30
   PubMed Web of Science ®Google Scholar
• Russell S.M., Keegan A.D., Harada N., Nakamura Y., Noguchi M., Leland P., Friedmann M.C., Miyajima A., Puri R.K., Paul W.E., et al. Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor [see comments]. Science 1993; 262: 1880–1883
   PubMed Web of Science ®Google Scholar
• Kondo M., Takeshita T., Ishii N., Nakamura M., Watanabe S., Arai K., Sugamura K. Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4 [see comments]. Science 1993; 262: 1874–1877
   PubMed Web of Science ®Google Scholar
• Noguchi M., Nakamura Y., Russell S.M., Ziegler S.F., Tsang M., Cao X., Leonard W.J. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor [see comments]. Science 1993; 262: 1877–1880
   PubMed Web of Science ®Google Scholar
• Noguchi M., Yi H., Rosenblatt H.M., Filipovich A.H., Adelstein S., Modi W.S., McBride O.W., Leonard W.J. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993; 73: 147–157
   PubMed Web of Science ®Google Scholar
• Leonard W.J., Noguchi M., Russell S.M., McBride O.W. The molecular basis of X-linked severe combined immunodeficiency: the role of the IL-2 receptor gamma chain as a common gamma chain, gamma(c). Immunological Rev. 1994; 138: 61
   PubMed Web of Science ®Google Scholar
• Griscelli C., Durandy A., Virelizier J.L., Ballet J.J., Daguillard F. Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immunodeficiency disease. J. Pediatr. 1978; 93: 404–411
   PubMed Web of Science ®Google Scholar
• Puck J.M., Deschenes S.M., Porter J.C., Dutra A.S., Brown C.J., Willard H.F., Henthorn P.S. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDXI. Hum. Mol. Genet. 1993; 2: 1099–1104
   PubMed Web of Science ®Google Scholar
• Di Santo J.P., Dautry-Varsat A., Certain S., Fischer A., de Saint Basile G. Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur. J. Immunol. 1994; 24: 475–419
   PubMed Web of Science ®Google Scholar
• Markiewicz S., Subtil A., Dautry-Varsat A., Fischer A., de Saint Basile G. Detection of three nonsense mutations and one misssense mutation in the IL-2 receptor gamma chain gene in SCIDXI that differently affect the mRNA processing. Genomics 1994; 21: 291–293
   PubMed Web of Science ®Google Scholar
• Welte K., Zeidler C., Reiter A., Muller W., Odenwald E., Souza L., Riehm H. Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood 1990; 75: 1056–1063
   PubMed Web of Science ®Google Scholar
• Dong F., Hoefsloot L.H., Schelen A.M., Broeders C.A., Meijer Y., Veerman A.J., Touw I.P., Lowenberg B. Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. Proc. Natl. Acad. Sci. USA 1994; 91: 4480–4484
   PubMed Web of Science ®Google Scholar
• Baumann G., Shaw M.A., Winter R.J. Absense of the plasma growth hormone-binding protein in Laron-type dwarfism. J. Clin. Endocrinol. Metab. 1987; 65: 814–816
   PubMed Web of Science ®Google Scholar
• Daughaday W.H., Trivedi B. Absense of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proc. Natl. Acad. Sci. USA 1987; 84: 4636–4640
   PubMed Web of Science ®Google Scholar
• Amselem S., Duquesnoy P., Attree O., Novelli G., Bousnina Post S., El Vinay M.C., Goossens M. Laron dwarfism and mutations of the growth hormone-receptor gene. N. Engl. J. Med. 1989; 321: 989–995
   PubMed Web of Science ®Google Scholar
• Godowski P.J., Leung D.W., Meacham L.R., Galgani J.P., Hellmiss R., Keret R., Rotwein P.S., Parks J.S., Laron Z., Wood W.I. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc. Natl. Acad. Sci. USA 1989; 86: 8083–8087
   PubMed Web of Science ®Google Scholar
• Berg M.A., Argente J., Chemausek S., Gracia Guevara R., Aguirre J., Hopp Perez M., Jurado L., Rosenbloom A., Toledo S.P., Francke U. Diverse growth hormone receptor gene mutations in Laron syndrome. Am. J. Hum. Genet. 1993; 52: 998–1005
   PubMed Web of Science ®Google Scholar
• Buchanan C.R., Maheshwari H.G., Norman M.R., Morrell D.J., Preece M.A. Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. Clin. Endocrinol. Oxf. 1991; 35: 179–185
   PubMed Web of Science ®Google Scholar
• Duquesnoy P., Sobrier M.L., Duriez B., Dastot F., Buchanan C.R., Savage M.O., Preece M.A., Craescu C.T., Blouquit Y., Goossens M., et al. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by albolishing receptor homodimerization. EMBO J. 1994; 13: 1386–1395
   PubMed Web of Science ®Google Scholar
• Yamamoto T., Hirara H., Nishida T., Kawai S., Toyoshima K. A new avian erythroblastosis virus, AEV-H, carries erbB gene responsible for the induction of both erythroblastosis and sarcomas. Cell 1983; 34: 225–232
   PubMed Web of Science ®Google Scholar
• Wheeler E.F., Askew D., May S., Ihle J.N., Sherr C.J. The v-fms oncogene induces factor-independent growth and transformation of the IL-3-dependent myeloid cell line FDC-P1. Mol. Cell. Biol. 1987; 7: 1673–1680
   PubMed Web of Science ®Google Scholar
• Ridge S.A., Worwood M., Oscier D., Jacobs A., Padua R.A. FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc. Natl. Acad. Sci. USA 1990; 87: 1377–1380
   PubMed Web of Science ®Google Scholar
• Yoshimura A., Longmore G., Lodish H.F. Point mutation in the exoplasmic domain of the erythropoietin receptor resulting in hormone-independent activation and tumorigenicity. Nature 1990; 348: 647–649
   PubMed Web of Science ®Google Scholar
• Watowich S.S., Yoshimura A., Longmore G.D., Hilton D.J., Yoshimura Y., Lodish H.F. Hismodimerization and constitutive activation of the erythropoietin receptor. Proc. Natl. Acad. Sci. USA 1992; 89: 2140–2144
   PubMed Web of Science ®Google Scholar
• Longmore G.D., Lodish H.F. An activating mutation in the murine erythropoietin receptor induces erythroleukemia in mice: a cytokine receptor superfamily oncogene. Cell 1991; 67: 1089–1102
   PubMed Web of Science ®Google Scholar
• Ward J.C., Harris K.W., Penny L.A., Forget B.G., Kitamura T., Winkelmann J.C. A structurally abnormal erythropoietin receptor gene in a human erythroleukemia cell line. Exp. Hematol. 1992; 20: 371–373
   PubMed Web of Science ®Google Scholar
• Chretien Moreau S., Gachelin F., Apiou F., Courtois G., Mayeux P., Dutrillaux B., Cartron J.P., Gisselbrecht S., Lacombe C. Putative oncogenic role of the erythropoietin receptor in murine and human erythroleukemia cells. Blood 1994; 83: 1813–1821
   PubMed Web of Science ®Google Scholar
• de la Chapelle A., Sistonen P., Lehvaslaiho H., Ikkala E., Juvonen E. Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet 1993; 341: 82–84
   PubMed Web of Science ®Google Scholar
• Winkelmann J.C. The human erythropoietin receptor. Int. J. Cell Cloning 1992; 10: 254–261
   PubMedGoogle Scholar
• Youssoufian H., Longmore G., Neumann D., Yoshimura:and A., Lodish H.F. Structure, function, and activation of the erythropoietin receptor. Blood 1993; 81: 2223–2236
   PubMed Web of Science ®Google Scholar
• Souyri M., Vigon I., Penciolelli J.F., Heard J.M., Tambourin P., Wendling F. A putative truncated cytokine receptor gene transduced by the myeloproliferative leukemia virus immortalizes hematopoietic progenitors. Cell 1990; 63: 1137–1147
   PubMed Web of Science ®Google Scholar
• Bartley T.D., Bogenberger J., Hunt F., et al. Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl. Cell 1994; 77: 1117–1124
   PubMed Web of Science ®Google Scholar
• Vigon I., Dreyfus F., Melle J., Viguie F., Ribrag V., Cocault L., Souyri M., Gisselbrecht S. Expression of the c-mpl proto-oncogene in human hematologic malignancies. Blood 1993; 82: 877–883
   PubMed Web of Science ®Google Scholar
• d'Andrea R., Rayrier J., Moretti P., Lopez A., Goodall G.J., Gonda T.J., Vadas M.A. A mutation of the common receptor subunit for interleukin-3 (IL-3). granulocyte-macrophage colony-stimulating factor, and IL-5 that leads to ligand independence and tumorigenicity. Blood 1994; 83: 2802–2808
   PubMed Web of Science ®Google Scholar
• Brown M.A., Cough N.M., Willson T.A., Rockman S., Begley C.G. Structure and expression of the GM-CSF receptor alpha and beta chain genes in human leukemia. Leukemia 1993; 7: 63–74
   PubMed Web of Science ®Google Scholar
• Mitelman F. Catalogue of Chromosome Aberrations in Cancer. Alan R. Liss, New York 1988
   Google Scholar
• Bardy P.G., Lopez A.F., Moore S., Park L.S., Vadas M.A., Shannon M.F. Human GM-CSF receptor alpha-chain gene is highly polymorphic but not rearranged in AML. Leukemia 1992; 6: 893–897
   PubMed Web of Science ®Google Scholar
• Isobe M., Kumura Y., Murata Y., Takaki S., Tominaga A., Takatsu K., Ogita Z. Localization of the gene encoding the alpha subunit of human interleukin-5 receptor (ILSRA) to chromosome region 3p24–3p26. Genomics 1992; 14: 755–758
   PubMed Web of Science ®Google Scholar
• Jacob C.O., Mykytyn K., Varcony T., Drabkin H.A. Mapping of the interleukin 5 receptor gene to human chromosome 3 p25-p26 and to mouse chromosome 6 close to the Raf-l locus with polymorphic tandem repeat sequences. Mamm. Genome 1993; 4: 435–439
   PubMed Web of Science ®Google Scholar
• Pritchard M.A., Baker E., Whitmore S.A., Sutherland G.R., Idzerda K.L., Park L.S., Cosman D., Jenkins N.A., Gilbert D.J., Copeland N.G., et al. The interleukin-4 receptor gene (IL4R)mapsto 16p11.2–16p12.1 in human and to the distal region of mouse chromosome 7. Genomics 1991; 10: 801–1306
   PubMed Web of Science ®Google Scholar
• Lynch M., Baker E., Park L.S., Sutherland G.R., Goodwin R.G. The interleukin-7 receptor gem is at 5p13. Hum. Genet. 1992; 89: 566–568
   PubMed Web of Science ®Google Scholar
• Wiegant P.M.J., Jansen R.P., Bolk M W., Raap A.K., Willemze R., Landegent J.E. The human interleukin-6 receptor alpha chain gene is localized on chromosome 1 band q21. Hum. Genet. 1993; 90: 542–544
   PubMed Web of Science ®Google Scholar
• Kidd V.J., Nesbitt J.E., Fuller G.M. Chromosomal localization of the IL-6 receptor signal transducing subunit, gp130 (IL6ST). Somat. Cell Mol. Genet. 1992; 18: 477–483
   PubMedGoogle Scholar
• Arden K.C., Boutin J.M., Djiane J., Kelly P.A., Cavenee W.K. The receptors for prolactin and growth hormone are localized in the same region of human chromosome 5. Cytogenet. Cell Genet. 1990; 53: 1611–165
   Google Scholar
• Noguchi M., Adelstein S., Cao X., Leonard W.J. Characterization of the human interleukin-2 receptor gamma chain gene. J. Biol. Chem. 1993; 268: 13601–13608
   PubMed Web of Science ®Google Scholar
• Pleiman C.M., Gimpel S.D., Park L.S., Harada H., Taniguchi T., Ziegler S.F. Organization of the murine and human interleukin-7 receptor genes: two mRNAs generated by differential splicing and presence of a, type I-interferon- inducible promoter. Mol. Cell Biol. 1991; 11: 3052–3059
   PubMed Web of Science ®Google Scholar
• Maouche L., Tournamille C., Hattab C., Boffa G., Cartron J.P., Chretien S. Cloning of the gene encoding the human erythropoietin receptor. Blood 1991; 78: 2557–2563
   PubMed Web of Science ®Google Scholar