Linked Life Data

21130072

Source:http://linkedlifedata.com/resource/pubmed/id/21130072

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-1-10
pubmed:abstractText
Hepatocyte nuclear factor-1B (HNF-1B) is a transcription factor involved in embryonic development and tissue-specific gene expression in several organs, including the kidney. Recently heterozygous mutations in the HNF1B gene have been identified in patients with hypomagnesemia due to renal Mg(2+) wasting. Interestingly, ChIP-chip data revealed HNF-1B binding sites in the FXYD2 gene, encoding the ?-subunit of the Na(+)/K(+)-ATPase. The ?-subunit has been described as one of the molecular players in the renal Mg(2+) reabsorption in the distal convoluted tubule (DCT). Of note, the FXYD2 gene can be alternatively transcribed into two main variants, namely ?a and ?b. In the present study, we demonstrated via two different reporter gene assays that HNF-1B specifically acts as an activator of the ?a-subunit, whereas the ?b-subunit expression was not affected. Moreover, the HNF-1B mutations H69fsdelAC, H324S325fsdelCA, Y352finsA and K156E, previously identified in patients with hypomagnesemia, prevented transcription activation of ?a-subunit via a dominant negative effect on wild type HNF1-B. By immunohistochemistry, it was shown that the ?a- and ?b-subunits colocalize at the basolateral membrane of the DCT segment of mouse kidney. On the basis of these data, we suggest that abnormalities involving the HNF-1B gene may impair the relative abundance of ?a and ?b, thus affecting the transcellular Mg(2+) reabsorption in the DCT.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1090-2104
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
7
pubmed:volume
404
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
284-90
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
HNF-1B specifically regulates the transcription of the ?a-subunit of the Na+/K+-ATPase.
pubmed:affiliation
Department of Physiology, Radboud University Nijmegen Medical Centre, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't