Linked Life Data

10602989

Source:http://linkedlifedata.com/resource/pubmed/id/10602989

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-2-3
pubmed:databankReference
pubmed:abstractText
Combined pituitary hormone deficiency (CPHD) is an autosomal recessive inherited disease of German shepherd dogs characterized primarily by dwarfism. In mice and humans a similar genetic disorder has been described that results from an alteration in the gene encoding the transcription factor Pit-1. In this study we characterized the canine Pit-1 gene, determined the chromosomal localization of the Pit-1 gene, and screened dwarf German shepherd dogs for the presence of mutations in this gene. The full-length canine Pit-1 cDNA contained an open reading frame encoding 291 amino acids, 92 bp of 5'-untranslated region, and 1959 bp of 3'-untranslated region. The deduced amino acid sequence was highly homologous with Pit-1 of other mammalian species. Using a Pit-1 BAC clone as probe, the Pit-1 gene was mapped by FISH to canine Chromosome (Chr) 31. In dwarf German shepherd dogs a C to A transversion was detected, causing a Phe (TTC) to Leu (TTA) substitution at codon 81. This alteration was present neither in other canine breeds analyzed nor in other mammalian species. However, healthy German shepherd dogs were also homozygous for the mutant allele, indicating that it is not the primary disease-causing mutation. In addition, linkage analysis of polymorphic DNA markers flanking the Pit-1 gene, 41K19 and 52L05, revealed no co-segregation between the Pit-1 locus and the CPHD phenotype. These findings suggest that a gene other than Pit-1 is responsible for the pituitary anomaly in dwarf German shepherd dogs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0938-8990
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
31-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10602989-Amino Acid Sequence, pubmed-meshheading:10602989-Animals, pubmed-meshheading:10602989-Base Sequence, pubmed-meshheading:10602989-Chromosome Mapping, pubmed-meshheading:10602989-Cloning, Molecular, pubmed-meshheading:10602989-DNA, pubmed-meshheading:10602989-DNA Primers, pubmed-meshheading:10602989-DNA-Binding Proteins, pubmed-meshheading:10602989-Dog Diseases, pubmed-meshheading:10602989-Dogs, pubmed-meshheading:10602989-Dwarfism, Pituitary, pubmed-meshheading:10602989-Female, pubmed-meshheading:10602989-In Situ Hybridization, Fluorescence, pubmed-meshheading:10602989-Male, pubmed-meshheading:10602989-Molecular Sequence Data, pubmed-meshheading:10602989-Pedigree, pubmed-meshheading:10602989-Point Mutation, pubmed-meshheading:10602989-RNA, pubmed-meshheading:10602989-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:10602989-Sequence Alignment, pubmed-meshheading:10602989-Sequence Analysis, DNA, pubmed-meshheading:10602989-Sequence Homology, Amino Acid, pubmed-meshheading:10602989-Transcription Factor Pit-1, pubmed-meshheading:10602989-Transcription Factors
pubmed:year
2000
pubmed:articleTitle
Cloning of the canine gene encoding transcription factor Pit-1 and its exclusion as candidate gene in a canine model of pituitary dwarfism.
pubmed:affiliation
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, University of Utrecht, P.O. Box. 80.154, 3508 TD Utrecht, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't