Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia
نویسندگان
چکیده
منابع مشابه
Transcriptional regulation of the lactase-phlorizin hydrolase promoter by PDX-1.
Lactase-phlorizin hydrolase gene expression is spatially restricted along the anterior-posterior gut axis. Lactase gene transcription is maximal in the distal duodenum and jejunum in adult mammals and is barely detectable in the proximal duodenum. By contrast, pancreatic duodenal homeobox-1 (PDX-1) protein is expressed maximally in the proximal duodenum. This study aimed to determine the role o...
متن کاملRegulation of lactase-phlorizin hydrolase gene expression by the caudal-related homoeodomain protein Cdx-2.
Lactase-phlorizin hydrolase is exclusively expressed in the small intestine and is often used as a marker for the differentiation of enterocytes. The cis-element CE-LPH1 found in the lactase-phlorizin hydrolase promoter has previously been shown to bind an intestinal-specific nuclear factor. By electrophoretic mobility-shift assay it was shown that the factor Cdx-2 (a homoeodomain-protein relat...
متن کاملCorrelation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia.
The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase (LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test (HBT)...
متن کاملComplex regulation of the lactase-phlorizin hydrolase promoter by GATA-4.
Lactase-phlorizin hydrolase (LPH), a marker of intestinal differentiation, is expressed in absorptive enterocytes on small intestinal villi in a tightly regulated pattern along the proximal-distal axis. The LPH promoter contains binding sites that mediate activation by members of the GATA-4, -5, and -6 subfamily, but little is known about their individual contribution to LPH regulation in vivo....
متن کاملMolecular Genetics of Lactase Persistence
This thesis is based on the following original articles, which are referred to in the text by their Roman numerals. In addition, some unpublished data are presented Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Identification of a variant associated with adult-type hypolactasia. Transcriptional regul...
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ژورنال
عنوان ژورنال: Gut
سال: 2003
ISSN: 0017-5749
DOI: 10.1136/gut.52.5.647