Linked Life Data

9192854

Source:http://linkedlifedata.com/resource/pubmed/id/9192854

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1997-9-2
pubmed:abstractText
Multiple endocrine neoplasia, type 1 (MEN I), is an autosomal dominant syndrome of selected endocrine neoplasms whose causative gene, a suspected tumor suppressor, has been localized to chromosome 11q13, but has not been identified. Recently, the HNP36 cDNA was identified as a novel growth factor responsive gene of undetermined biological function that is expressed in the pituitary and parathyroid glands. In studies seeking the function of the HNP36 gene product, the gene was localized by fluorescence in situ hybridization within the 11q13 segment. Further analysis of radiation-reduced hybrid DNAs and chromosome 11-specific YAC clones established that the HNP36 gene is within 80 kb of D11S913, a marker tightly linked to the MEN1 gene. Consequently, the HNP36 gene was studied as a candidate for the MEN1 gene. The human HNP36 gene was cloned and determined to consist of 12 exons. Expression of the HNP36 gene from pituitary and parathyroid tissue and four patient tumors or lymphoblasts was confirmed by RT-PCR amplification of the coding sequences, and HNP36 transcripts were analyzed for mutations. All tissues expressed three HNP36 gene transcripts that result from alternative splicing and appear to encode related, but distinct, proteins. However, DNA sequence determination of the RT-PCR products from MEN I-associated tumors found no deletions and identified a single nucleotide difference that may be a polymorphism. Thus, mutations in the coding segments of the HNP36 gene are not the cause of the MEN I syndrome. Nevertheless, the assignment of the HNP36 gene to 11q13 and identification of new potential gene products provides a novel growth-regulated genetic candidate for other disorders whose genes map to this locus.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-30
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:9192854-Alternative Splicing, pubmed-meshheading:9192854-Base Sequence, pubmed-meshheading:9192854-Chromosome Mapping, pubmed-meshheading:9192854-Chromosomes, Human, Pair 11, pubmed-meshheading:9192854-DNA, Complementary, pubmed-meshheading:9192854-DNA Primers, pubmed-meshheading:9192854-Equilibrative-Nucleoside Transporter 2, pubmed-meshheading:9192854-Humans, pubmed-meshheading:9192854-In Situ Hybridization, Fluorescence, pubmed-meshheading:9192854-Molecular Sequence Data, pubmed-meshheading:9192854-Multiple Endocrine Neoplasia Type 1, pubmed-meshheading:9192854-Mutation, pubmed-meshheading:9192854-Nuclear Proteins, pubmed-meshheading:9192854-Polymerase Chain Reaction, pubmed-meshheading:9192854-RNA, Messenger, pubmed-meshheading:9192854-Sequence Homology, Amino Acid, pubmed-meshheading:9192854-Tissue Distribution
pubmed:year
1997
pubmed:articleTitle
The human HNP36 gene is localized to chromosome 11q13 and produces alternative transcripts that are not mutated in multiple endocrine neoplasia, type 1 (MEN I) syndrome.
pubmed:affiliation
Department of Medicine, and the Vanderbilt Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA. john.williams@mcmail.vanderbilt.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't