RESUMEN
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.
Asunto(s)
Proteínas Portadoras/genética , Infecciones por Herpesviridae/complicaciones , Herpesvirus Humano 4 , Péptidos y Proteínas de Señalización Intracelular , Trastornos Linfoproliferativos/genética , Mutación , Dominios Homologos src/genética , Antígenos CD , Linfocitos B/inmunología , Linfocitos B/virología , Proteínas Portadoras/metabolismo , Clonación Molecular , Femenino , Ligamiento Genético , Glicoproteínas/metabolismo , Infecciones por Herpesviridae/inmunología , Infecciones por Herpesviridae/virología , Humanos , Inmunoglobulinas/metabolismo , Trastornos Linfoproliferativos/complicaciones , Trastornos Linfoproliferativos/inmunología , Trastornos Linfoproliferativos/virología , Masculino , Datos de Secuencia Molecular , Linaje , Receptores de Superficie Celular , Alineación de Secuencia , Eliminación de Secuencia , Proteína Asociada a la Molécula de Señalización de la Activación Linfocitaria , Miembro 1 de la Familia de Moléculas Señalizadoras de la Activación Linfocitaria , Linfocitos T/inmunología , Linfocitos T/virología , Cromosoma XRESUMEN
We describe the purification of Urine Protein 1 (UP1), a 14-16 kDa protein which occurs in the urine of patients with renal failure, and therefore may originate from the plasma or kidney. Amino acid sequencing shows that UP1 has significant homology with rabbit uteroglobin, a secretory protein of the uterus (during pregnancy) and lungs (both sexes), and previously identified only in lagomorphs (rabbits, hares, pikas). The finding of a human uteroglobin-like protein, which can be purified from a readily available source, may provide further opportunities to elucidate the, as yet, uncertain physiological functions of uteroglobin.