Structure and genetic polymorphism of the mouse KCC1 gene

Biochim Biophys Acta. 2000 Jul 24;1492(2-3):353-61. doi: 10.1016/s0167-4781(00)00118-4.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Sickle Cell / genetics
  • Animals
  • Base Sequence
  • Carrier Proteins / genetics*
  • DNA / analysis
  • Dinucleotide Repeats / genetics*
  • Exons / genetics
  • Genome*
  • Introns / genetics
  • K Cl- Cotransporters
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Mice, Inbred DBA
  • Molecular Sequence Data
  • Phosphatidylcholine-Sterol O-Acyltransferase / genetics
  • Polymorphism, Genetic*
  • Sequence Homology, Nucleic Acid
  • Short Interspersed Nucleotide Elements / genetics
  • Symporters*

Substances

  • Carrier Proteins
  • Symporters
  • DNA
  • Phosphatidylcholine-Sterol O-Acyltransferase