Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor [gamma] chain gene in SCIDX1 that differently affect the mRNA processing

Journal Article · Sun May 01 04:00:00 EDT 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1265· OSTI ID:6853716

Markiewicz, S; Fischer, A; Saint Basile, G de ^[1]; Subtil, A; Dautry-Varsat, A ^[2]

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1. INSERM, Paris (France)
2. Institut Pasteur, Paris (France)

The interleukin-2 receptor [gamma] (IL-2R[gamma]) chain gene encodes a 64-kDa protein that not only composes the high-affinity form of the IL-2 binding receptor in association with the 2R [alpha] and [beta] chains, but also participates in at least the IL-4 and IL-7 receptor complexes. Mutations in this gene have recently been shown to cause X-linked severe combined immunodeficiency (SCIDX1). This disease of the immune system results from an early block of T lymphocyte and natural killer (NK) cell differentiation, which leads to a severe cellular and humoral immune defect that is lethal unless treated by bone marrow transplantation. Analysis of the IL-2R[gamma] gene in SCIDX1 patients has revealed the presence of heterogeneous mutations principally located in the extracellular domain of the molecule. We report here three intraexonic mutations and one deletion in the IL-2R[gamma] gene in four SCIDX1 patients. These mutations appear to differentially affect RNA processing, either by decreasing IL-2R[gamma] mRNA level or by the skipping of a constitutive exon. 16 refs., 1 fig.

• OSTI ID: 6853716
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 21:1; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOTECHNOLOGY
DISEASES
DNA HYBRIDIZATION
ETIOLOGY
GENE MUTATIONS
GENETIC ENGINEERING
HYBRIDIZATION
IMMUNE SYSTEM DISEASES
MEMBRANE PROTEINS
MUTATIONS
NUCLEIC ACID HYBRIDIZATION
ORGANIC COMPOUNDS
PROTEINS
RECEPTORS
RNA PROCESSING