Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-4
pubmed:dateCreated
2003-8-5
pubmed:abstractText
The murine Hyp mutation is a model for X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets in humans. Although mutations in the murine Phex gene and the human PHEX gene have been identified in both murine and human disorders, the extent of the Hyp deletion on the mouse X chromosome has not been delineated. In the present study we demonstrate that the Hyp deletion starts in the middle of Phex intron 15 and includes approximately 48 kb of the 3' region of the Phex gene and approximately 10 kb of intergenic sequence on the mouse X chromosome. In addition, we show that the Hyp deletion does not involve the downstream spermidine/spermine N1-acetyl transferase (Sat; formerly Ssat) gene and thus is not a contiguous gene deletion syndrome. Our data indicate that the Hyp mouse is a true homolog of XLH in humans and underscore the validity of this murine model in studies of XLH pathophysiology and for testing novel treatment modalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1424-859X
pubmed:author
pubmed:copyrightInfo
Copyright 2002 S. Karger AG, Basel
pubmed:issnType
Electronic
pubmed:volume
99
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
344-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:12900584-Acetyltransferases, pubmed-meshheading:12900584-Animals, pubmed-meshheading:12900584-Chromosome Deletion, pubmed-meshheading:12900584-DNA, pubmed-meshheading:12900584-DNA, Intergenic, pubmed-meshheading:12900584-Disease Models, Animal, pubmed-meshheading:12900584-Gene Expression Regulation, Enzymologic, pubmed-meshheading:12900584-Humans, pubmed-meshheading:12900584-Hypophosphatemia, Familial, pubmed-meshheading:12900584-Kidney, pubmed-meshheading:12900584-Male, pubmed-meshheading:12900584-Mice, pubmed-meshheading:12900584-Mutation, pubmed-meshheading:12900584-PHEX Phosphate Regulating Neutral Endopeptidase, pubmed-meshheading:12900584-Proteins, pubmed-meshheading:12900584-RNA, Messenger, pubmed-meshheading:12900584-Sequence Analysis, DNA, pubmed-meshheading:12900584-X Chromosome
pubmed:year
2002
pubmed:articleTitle
The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex.
pubmed:affiliation
Department of Biology, McGill University, Montreal, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't