Journal article
Cloning and Characterization of SLC26A6, a Novel Member of the Solute Carrier 26 Gene Family
Genomics (San Diego, Calif.), Vol.72(1), pp.43-50
02/15/2001
DOI: 10.1006/geno.2000.6445
PMID: 11247665
Abstract
The SLC26 gene family (solute carrier family 26) comprises five mammalian genes that encode anion transporter-related proteins. In addition to sat-1 and prestin, which were cloned from rat and gerbil, respectively, three human members have been identified and associated with specific genetic diseases (DTD, diastrophic dysplasia; CLD, congenital chloride diarrhea; PDS, Pendred syndrome). In this study we used a homology approach combined with RACE PCR to identify human SLC26A6, the sixth member of this gene family. Northern blot analysis showed the highest SLC26A6 transcript levels in kidney and pancreas. Expression in MDCK cells and in Xenopus oocytes demonstrated trafficking of the SLC26A6 protein to the cell membrane but did not reveal anion transport activity with tracer uptake or intracellular pH measurements. We determined the genomic structure of the SLC26A6 gene and excluded mutations in the 21 coding exons as the cause of DFNB6 and USH2B, which closely map to the SLC26A6 chromosomal locus (3p21).
Details
- Title: Subtitle
- Cloning and Characterization of SLC26A6, a Novel Member of the Solute Carrier 26 Gene Family
- Creators
- Siegfried Waldegger - Zentrum für Kinderheilkunde, Universität, Marburg, Deutschhausstr. 12, D-35037, Marburg, GermanyIvano Moschen - Institut für Physiologie, Universität Tübingen, Gmelinstrasse 5, D-72076, Tübingen, GermanyAlfredo Ramirez - Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, GermanyRichard J.H Smith - Department of Otolaryngology, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52242Hammadi Ayadi - Laboratoire de Génétique Moléculaire Humaine, Université de Sfax, Avenue Majida Boulila, 3029, Sfax, TunisiaFlorian Lang - Institut für Physiologie, Universität Tübingen, Gmelinstrasse 5, D-72076, Tübingen, GermanyChristian Kubisch - Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.72(1), pp.43-50
- DOI
- 10.1006/geno.2000.6445
- PMID
- 11247665
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 02/15/2001
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984007185002771
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