title: Assignment of the human Na+/glucose cotransporter gene SGLT1 to chromosome 22q13.1.
abstract: The Na+/glucose cotransporter gene SGLT1 encodes the primary carrier protein responsible for the uptake of the dietary sugars glucose and galactose from the intestinal lumen. SGLT1 transport activity is currently exploited in oral rehydration therapy. The 75-kDa glycoprotein is localized in the brush border of the intestinal epithelium and is predicted to comprise 12 membrane spans. In two patients with the autosomal recessive disease glucose/galactose malabsorption, the underlying cause was found to be a missense mutation in SGLT1, and the Asp28-->Asn change was demonstrated in vitro to eliminate SGLT1 transport activity. The SGLT1 gene was previously shown to reside on the distal q arm of chromosome 22 (11.2-->qter). We have used a cosmid probe for fluorescence in situ hybridization, which refines the localization to 22q13.1, and provide an example of the utility of the SGLT1 probe as a diagnostic for genetic diseases associated with translocations of chromosome 22.
authors.affiliation: Department of Physiology, UCLA School of Medicine 90024-1751.
authors.forename: E
authors.initials: E
authors.lastname: Turk
authors.forename: I
authors.initials: I
authors.lastname: Klisak
authors.forename: R
authors.initials: R
authors.lastname: Bacallao
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
authors.forename: E M
authors.initials: EM
authors.lastname: Wright
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003360:Cosmids; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008286:Malabsorption Syndromes / Q000235:genetics / Q000378:metabolism; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009004:Monosaccharide Transport Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D051269:Sodium-Glucose Transporter 1
chemical_list: D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009004:Monosaccharide Transport Proteins; C495674:SLC5A1 protein, human; D051269:Sodium-Glucose Transporter 1