Assignment of the Human Na+/Glucose Cotransporter Gene SGLT1 to Chromosome 22q13.1

Eric Turk, Ivana Klisak, Robert Bacallao, Robert S. Sparkes, Ernest M. Wright

Research output: Contribution to journalArticle

20 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)752-754
Number of pages3
JournalGenomics
Volume17
Issue number3
DOIs
StatePublished - Sep 1993
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 22
Chromosomes
Dietary Sucrose
Glucose
Cosmids
Inborn Genetic Diseases
Fluid Therapy
Missense Mutation
Intestinal Mucosa
Microvilli
Fluorescence In Situ Hybridization
Galactose
Genes
Glycoproteins
Carrier Proteins
Membranes
In Vitro Techniques
Glucose-Galactose Malabsorption

ASJC Scopus subject areas

  • Genetics

Cite this

Assignment of the Human Na+/Glucose Cotransporter Gene SGLT1 to Chromosome 22q13.1. / Turk, Eric; Klisak, Ivana; Bacallao, Robert; Sparkes, Robert S.; Wright, Ernest M.

In: Genomics, Vol. 17, No. 3, 09.1993, p. 752-754.

Research output: Contribution to journalArticle

Turk, Eric ; Klisak, Ivana ; Bacallao, Robert ; Sparkes, Robert S. ; Wright, Ernest M. / Assignment of the Human Na+/Glucose Cotransporter Gene SGLT1 to Chromosome 22q13.1. In: Genomics. 1993 ; Vol. 17, No. 3. pp. 752-754.
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