title: The murine alpha(1)-proteinase inhibitor gene family: polymorphism, chromosomal location, and structure.
abstract: 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.
authors.affiliation: Department of Biological Sciences, University of South Carolina, Columbia, South Carolina, 29208, USA.
authors.forename: Karen W
authors.initials: KW
authors.lastname: Barbour
authors.forename: FuSheng
authors.initials: F
authors.lastname: Wei
authors.forename: Camilynn
authors.initials: C
authors.lastname: Brannan
authors.forename: Terence R
authors.initials: TR
authors.lastname: Flotte
authors.forename: Heinz
authors.initials: H
authors.lastname: Baumann
authors.forename: Franklin G
authors.initials: FG
authors.lastname: Berger
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D015870:Gene Expression; D008099:Liver / Q000378:metabolism; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020033:Protein Isoforms; D017386:Sequence Homology, Amino Acid; D020080:Tandem Repeat Sequences; D000515:alpha 1-Antitrypsin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D020033:Protein Isoforms; D000515:alpha 1-Antitrypsin