Szöts, Hannelore; Riethmüller, Gert; Weiss, Elisabeth H.; Meo, Tommaso
(1986):
Complete sequence of HLA-B27 cDNA identified through the characterization of structural markers unique to the HLA-A, -B, and -C allelic series.
In: Proceedings of the National Academy of Science of the USA, Vol. 83: pp. 1428-1432
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Abstract
Antigen HLA-B27 is a high-risk genetic factor
with respect to a group of rheumatoid disorders, especially
ankylosing spondylitis. A cDNA library was constructed from
an autozygous B-cell line expressing HLA-B27, HLA-Cw1, and
the previously cloned HLA-A2 antigen. Clones detected with an
HLA probe' were isolated and sorted into homology groups by
differential hybridization and restriction maps. Nucleotide
sequencing allowed the unambiguous assignment of cDNAs to
HL4-A, -B, and -C loci. The HLA-B27 mRNA has the
structural features and the codon variability typical of an HLA
class I transcript but it specifies two uncommon amino acid
replacements: a cysteine in position 67 and a serine in position
131. The latter substitution may have functional consequences,
because it occurs in a conserved region and at a position
invariably occupied by a species-specific arginine in humans
and lysine in mice. The availability of the complete sequence of
HLA-B27 and of the partial sequence of HLA-Cw1 allows the
recognition of locus-specific sequence markers, particularly,
but not exclusively, in the transmembrane and cytoplasmic
domains.