Linked Life Data

10878610

Source:http://linkedlifedata.com/resource/pubmed/id/10878610

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-8-29
pubmed:abstractText
Hereditary multiple exostoses (HME) is a genetically heterogeneous disease characterized by the development of bony protuberances at the ends of all long bones. Genetic analyses have revealed HME to be a multigenic disorder linked to three loci on chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes have been cloned and defined as glycosyltransferases involved in the synthesis of heparan sulfate. EST database analysis has demonstrated additional gene family members, EXT-like genes (EXTL1, EXTL2, and EXTL3), not associated with a HME locus. The mouse homologs of EXT1 and EXT2 have also been cloned and shown to be 99% and 95% identical to their human counterparts, respectively. Here, we report the identification of the mouse EXTL1 gene and show it is 74% identical to the human EXTL1 gene. Expression studies of all three mouse EXT genes throughout various stages of embryonic development were carried out and whole-mount in situ hybridization in the developing limb buds showed high levels of expression of all three EXT genes. However, in situ hybridization of sectioned embryos revealed remarkable differences in expression profiles of EXT1, EXT2, and EXTL1. The identical expression patterns found for the EXT1 and EXT2 genes support the recent observation that both proteins form a glycosyltransferase complex. We suggest a model for exostoses formation based on the involvement of EXT1 and EXT2 in the Indian hedgehog/parathyroid hormone-related peptide (PTHrP) signaling pathway, an important regulator of the chondrocyte maturation process.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1058-8388
pubmed:author
pubmed:issnType
Print
pubmed:volume
218
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
452-64
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10878610-Amino Acid Sequence, pubmed-meshheading:10878610-Animals, pubmed-meshheading:10878610-Base Sequence, pubmed-meshheading:10878610-Blotting, Northern, pubmed-meshheading:10878610-Bone Development, pubmed-meshheading:10878610-COS Cells, pubmed-meshheading:10878610-Cartilage, pubmed-meshheading:10878610-Chondrocytes, pubmed-meshheading:10878610-Endoplasmic Reticulum, pubmed-meshheading:10878610-Exostoses, Multiple Hereditary, pubmed-meshheading:10878610-Gene Expression, pubmed-meshheading:10878610-Gene Expression Profiling, pubmed-meshheading:10878610-Humans, pubmed-meshheading:10878610-In Situ Hybridization, pubmed-meshheading:10878610-Mice, pubmed-meshheading:10878610-Models, Biological, pubmed-meshheading:10878610-Molecular Sequence Data, pubmed-meshheading:10878610-N-Acetylglucosaminyltransferases, pubmed-meshheading:10878610-N-Acetylhexosaminyltransferases, pubmed-meshheading:10878610-Polymerase Chain Reaction, pubmed-meshheading:10878610-Proteins, pubmed-meshheading:10878610-Sequence Analysis, DNA, pubmed-meshheading:10878610-Tumor Suppressor Proteins
pubmed:year
2000
pubmed:articleTitle
EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.
pubmed:affiliation
McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75235-8591, USA. stickens@utsw.swmed.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.