Genomics 2002 Nov;80(5):515-22
The murine alpha(1)-proteinase inhibitor gene family:
polymorphism,
chromosomal location, and
structure.
Barbour KW, Wei F, Brannan C, Flotte TR, Baumann H, Berger FG.
Department of Biological Sciences, University of South Carolina, Columbia, South Carolina, 29208, USA.
alpha(1)-Proteinase inhibitor (alpha(1)-PI) is a member of the
serpin
superfamily of serine proteinase inhibitors, which function in
maintaining homeostasis through regulation of numerous proteolytic
processes. In laboratory mice (Mus musculus domesticus),
alpha(1)-PI occurs in multiple isoforms encoded by a family of three
to five genes that are polymorphic among inbred strains and that are
located
at the Serpina1 locus on chromosome 12. In the present study, we have
characterized
the alpha(1)-PI gene family of inbred mice in more detail. We show that
mice express seven isoforms, all of which are encoded by genes that map
to the Serpina1 locus. In addition, polymorphism at the locus is
defined
by three haplotypes (Serpina1(b), Serpina1(c), and Serpina1(l)) that
differ
with regard to both the number and identity of alpha(1)-PI genes.
Finally,
we present the complete sequence of an 84-kb region of Serpina1
containing
a tandem repeat of two alpha(1)-PI genes.