Common polymorphisms and alternative splicing in the ILT3 gene are not associated with atopy.
Recently, a linkage of the chromosomal region 19q13.4 with bronchial asthma has been demonstrated. This region harbours the so-called leucocyte receptor cluster with the gene for immunoglobulin-like-transcript 3 (ILT3) as a member. ILT3 represents an inhibitory receptor bearing three immunoreceptor tyrosine inhibitory motifs (ITIM). The protein mediates downregulation of cell activation through recruitment of different SH2-containing protein tyrosine phosphatases. With regard to the negative immunoregulatory function particularly on B-cells, ILT3 represents a candidate gene for atopy and asthma. The aim of this study was to screen for common polymorphisms in the gene coding for ILT3 and to test for association with the atopic phenotype. Using single-stranded conformal polymorphism-analysis and direct genomic sequencing seven polymorphisms, three mutations, a common deletion of 7 bp in the third intron and evidence for further alternative splicing of the ILT3 gene were found. Although no association was found with atopy phenotypes, it might prove useful to test for association with bronchial asthma.
University CHildren's Hospital, University of Freiburg, Germany.
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A
Heinzmann
S
S
Blattmann
J
J
Forster
J
J
Kuehr
K A
KA
Deichmann
D000293:Adolescent; D000328:Adult; D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics / Q000276:immunology; D005787:Gene Frequency; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000235:genetics* / Q000276:immunology; D015810:Linkage Disequilibrium / Q000235:genetics / Q000276:immunology; D008562:Membrane Glycoproteins; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000276:immunology; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000097:blood / Q000235:genetics* / Q000276:immunology*
C107907:LILRB4 protein, human; D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic