title: Allergy-associated polymorphisms of the Fc epsilon RI beta subunit do not impact its two amplification functions.
abstract: Two variants of the beta-chain of the high affinity IgE receptor Fc epsilon RI, I181L-V183L and E237G, have been found associated with allergy. We have previously shown that the beta-chain plays at least two distinct amplifier functions. It amplifies Fc epsilon RI surface expression and signaling, resulting in an estimated 12- to 30-fold amplification of downstream events. To test the hypothesis that the I181L-V183L and E237G beta variants may be functionally relevant and could directly contribute to an allergic phenotype, we have evaluated the functional impact of the beta variants on the two amplifier functions of beta. We found that these variants have no direct effect on the beta amplifier functions. However, the possibility remains that these variants are in linkage disequilibrium with other more relevant polymorphisms or are affecting unknown beta-chain functions.
authors.affiliation: Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA.
authors.forename: E
authors.initials: E
authors.lastname: Donnadieu
authors.forename: W O
authors.initials: WO
authors.lastname: Cookson
authors.forename: M H
authors.initials: MH
authors.lastname: Jouvin
authors.forename: J P
authors.initials: JP
authors.lastname: Kinet
mesh_terms: D001491:Basophils / Q000276:immunology / Q000378:metabolism; D002460:Cell Line; D002462:Cell Membrane / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D005784:Gene Amplification / Q000276:immunology*; D014644:Genetic Variation / Q000276:immunology; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000235:genetics* / Q000276:immunology*; D007424:Intracellular Fluid / Q000276:immunology / Q000378:metabolism; D007532:Isoleucine / Q000235:genetics; D007930:Leucine / Q000235:genetics; D011110:Polymorphism, Genetic / Q000276:immunology*; D011499:Protein Processing, Post-Translational / Q000276:immunology; D017455:Receptors, IgE / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism; D014162:Transfection; D020298:U937 Cells; D014633:Valine / Q000235:genetics
chemical_list: D017455:Receptors, IgE; D007532:Isoleucine; D018698:Glutamic Acid; D007930:Leucine; D014633:Valine; D005998:Glycine