title: Chromosomal localization of SLC12A5/Slc12a5, the human and mouse genes for the neuron-specific K(+)-Cl(-) cotransporter (KCC2) defines a new region of conserved homology.
abstract: K(+)-Cl(-) cotransporters (KCCs) constitute a branch of the cation-chloride cotransporter (CCC) family. To date, four KCC isoforms (KCC1-KCC4) have been identified and they all mediate obligatorily coupled, electroneutral transmembrane movement of K(+) and Cl(-) ions. KCC2 (gene symbol SLC12A5) is expressed exclusively in neurons within the central nervous system and abnormalities in its expression have been proposed to play a role in pathological conditions such as epilepsy and neuronal trauma. Here we have determined chromosome location of both the human and the mouse genes encoding KCC2, which may assist in future efforts to determine the contribution of KCC2 to inherited human disorders. We assigned human SLC12A5 to 20q12-->q13.1 and its murine homolog, Slc12a5, to 5G2-G3 by fluorescence in situ hybridization (FISH). These mapping data are contradictory to the previously reported human-mouse conserved synteny relationships disrupting an exceptionally well-conserved homology segment between human Chr 20 and mouse Chr 2. We hence suggest the first region of conserved homology between human Chr 20 and mouse Chr 5.
authors.affiliation: The Molecular Medicine Program, Biomedicum Helsinki, Finland. riitta.sallinen@hus.fi
authors.forename: R
authors.initials: R
authors.lastname: Sallinen
authors.forename: J
authors.initials: J
authors.lastname: Tornberg
authors.forename: M
authors.initials: M
authors.lastname: Putkiranta
authors.forename: N
authors.initials: N
authors.lastname: Horelli-Kuitunen
authors.forename: M S
authors.initials: MS
authors.lastname: Airaksinen
authors.forename: M
authors.initials: M
authors.lastname: Wessman
mesh_terms: D000818:Animals; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008677:Metaphase; D051379:Mice / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020161:Physical Chromosome Mapping; D015203:Reproducibility of Results; D012689:Sequence Homology, Nucleic Acid; D027981:Symporters / Q000235:genetics*; D026801:Synteny / Q000235:genetics; D000096922:K Cl- Cotransporters
chemical_list: D009419:Nerve Tissue Proteins; D027981:Symporters; D000096922:K Cl- Cotransporters