Linked Life Data

8733131

Source:http://linkedlifedata.com/resource/pubmed/id/8733131

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1997-6-4
pubmed:databankReference
pubmed:abstractText
The von Hippel-Lindau (VHL) disease product is thought to down-regulate transcription by antagonizing elongin-enhanced transcriptional elongation. Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma. In addition, somatic Inactivation of the VHL gene is frequent in sporadic renal cell carcinoma and haemangioblastoma. Regulation of transcript elongation is an important control mechanism for gene expression and the VHL gene might modify the expression of proto-oncogenes and growth suppressor genes during embryogenesis. We therefore investigated the expression of VHL mRNA during human embryogenesis by in situ hybridization studies at 4, 6 and 10 weeks post conception. Although VHL mRNA was expressed in all three germ layers, strong expression was noted in the central nervous system, kidneys, testis and lung. Within the kidney, VHL mRNA was differentially expressed within renal tubules suggesting that the VHL gene product may have a specific role in kidney development. Two alternatively spliced VHL mRNAs characterized by inclusion (isoform I) or exclusion (isoform II) of exon 2 are transcribed in adult tissues. To investigate if the two isoforms are differentially expressed during embryogenesis, VHL mRNA was reverse transcribed from 13 fetal tissues (8-10 weeks gestation). The quantitative distribution of VHL mRNA within fetal tissues reflected that seen by in situ hybridization and the ratio of the two VHL isoforms was similar between tissues. Although the genes regulated by the VHL gene product have not yet been identified, our findings are compatible with the hypothesis that VHL-mediated control of transcriptional elongation may have a role in normal human development.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
639-44
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:8733131-Adult, pubmed-meshheading:8733131-Alternative Splicing, pubmed-meshheading:8733131-Embryonic and Fetal Development, pubmed-meshheading:8733131-Gene Expression Regulation, Developmental, pubmed-meshheading:8733131-Genes, Tumor Suppressor, pubmed-meshheading:8733131-Gestational Age, pubmed-meshheading:8733131-Humans, pubmed-meshheading:8733131-Ligases, pubmed-meshheading:8733131-Molecular Sequence Data, pubmed-meshheading:8733131-Nucleic Acid Hybridization, pubmed-meshheading:8733131-Polymerase Chain Reaction, pubmed-meshheading:8733131-Proteins, pubmed-meshheading:8733131-RNA, Messenger, pubmed-meshheading:8733131-Tissue Distribution, pubmed-meshheading:8733131-Tumor Suppressor Proteins, pubmed-meshheading:8733131-Ubiquitin-Protein Ligases, pubmed-meshheading:8733131-Von Hippel-Lindau Tumor Suppressor Protein, pubmed-meshheading:8733131-von Hippel-Lindau Disease
pubmed:year
1996
pubmed:articleTitle
Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.
pubmed:affiliation
Cambridge University Department of Pathology, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't