Partial Gene Structure and Assignment to Chromosome 2q37 of the Human Inwardly Rectifying KChannel (Kir7.1) Gene (KCNJ13) |
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| Authors: | Christian Derst,Frank Dö ring,Regina Preisig-Mü ller,Jü rgen Daut,Andreas Karschin,Nikola Jeck,Stefanie Weber,Hartmut Engel,Karl-Heinz Grzeschik |
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| Affiliation: | aInstitute for Normal and Pathological Physiology, University of Marburg, 35033, Marburg, Germany;cDepartment of Pediatrics, University of Marburg, 35033, Marburg, Germany;dInstitute for Human Genetics, University of Marburg, 35033, Marburg, Germany;bMax-Planck Institute for Biophysical Chemistry, 37070, Göttingen, Germany |
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| Abstract: | The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approach revealed a single 2088-bp intron in the coding region ofKCNJ13. PCR analysis of monochromosomal and radiation hybrid panels assignsKCNJ13to band 2q37 between markers D2S331 and D2S345. In addition, a single nucleotide polymorphism (C524→T), leading to an exchange of a Thr with an Ile residue at amino acid position 175, was found. |
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