title: Frequencies of alpha4 A3061G variants and identification of three new variants of the human integrin alpha4-subunit.
abstract: Human integrin alpha4beta1 (VLA-4) is thought to play a key role in immune responses. Only two variants of alpha4-subunit (alpha4-tex and alpha4-mas) have been described until now, and the information regarding these variants is scanty. In this study, we measured the frequency of both variants in healthy blood donors (n=252). Surprisingly, the frequency of alpha4-mas (3061G, 0.31) was lower than that of alpha4-tex (3061A, 0.69). In addition, we sequenced and analyzed the mRNA of the entire alpha4-subunit in eight unselected healthy blood donors. These studies revealed three new variants, including a C to A transversion at position 269 in the promoter region of exon 1 (accession no. AJ504733); a G to A transversion at position 2273 in exon 16 (accession no. AJ510246, AJ510247), and a T to C exchange at position 3311 in exon 26 (accession no. AJ510248, AJ510249). None of these variants led to amino acid (AA) substitutions. Interestingly, homozygosity of the new variant 269A was not found.
authors.affiliation: Institut für Transfusionsmedizin, Charité, Humboldt-Universität Zu Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, Berlin 13353, Germany.
authors.forename: G A
authors.initials: GA
authors.lastname: Heymann
authors.forename: H
authors.initials: H
authors.lastname: Kiesewetter
authors.forename: A
authors.initials: A
authors.lastname: Salama
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D001782:Blood Donors; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005858:Germany; D006801:Humans; D039441:Integrin alpha4 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D012016:Reference Values
chemical_list: D003062:Codon; D012333:RNA, Messenger; D039441:Integrin alpha4