title: Structure and genetic polymorphism of the mouse KCC1 gene.
abstract: The KCC1 K-Cl cotransporter is a major regulator of erythroid and non-erythroid cell volume, and the KCC1 gene is a candidate modifier gene for sickle cell disease and other hemoglobinopathies. We have cloned and sequenced the mouse KCC1 (mKCC1) gene, defined its intron-exon junctions, and analyzed (AC)/(TG) intragenic polymorphisms. A highly polymorphic (AC) repeat of mKCC1 intron 1 was characterized in musculus strains, and used to prove lack of linkage between the mKCC1 gene and the rol (resistant to osmotic lysis) locus. The intron 1 (AC) repeat in CAST/Ei and SPRET/Ei was not only more divergent in length but also underwent additional sequence variation. A dimorphic (TG) repeat in intron 2 distinguished CAST/Ei from other strains, and an intron 17 B1 Alu-like SINE present in all musculus strains was found to be absent from intron 17 in SPRET/Ei. These and additional described strain-specific polymorphisms will be useful mapping and genetic tools in the study of mouse models of sickle cell disease.
authors.affiliation: Molecular Medicine Unit, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
authors.forename: B E
authors.initials: BE
authors.lastname: Shmukler
authors.forename: C
authors.initials: C
authors.lastname: Brugnara
authors.forename: S L
authors.initials: SL
authors.lastname: Alper
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000032:analysis; D018900:Dinucleotide Repeats / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016678:Genome; D007438:Introns / Q000235:genetics; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008811:Mice, Inbred DBA; D008969:Molecular Sequence Data; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics; D011110:Polymorphism, Genetic; D012689:Sequence Homology, Nucleic Acid; D020086:Short Interspersed Nucleotide Elements / Q000235:genetics; D027981:Symporters; D000096922:K Cl- Cotransporters
chemical_list: D002352:Carrier Proteins; D004247:DNA; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D027981:Symporters; D000096922:K Cl- Cotransporters