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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1998-1-20
pubmed:databankReference
pubmed:abstractText
The dominant mouse mutation Fused toes is characterized by partial syndactyly of the limbs and thymic hyperplasia. Both morphological abnormalities were shown to be related to impaired regulation of programmed cell death. Ft/Ft embryos die in midgestation showing severe malformations of fore- and midbrain as well as randomized situs. In Ft mice a large chromosomal deletion (about 300 kb) occurred after insertional mutagenesis. In this report we describe the identification of the first gene that has been mutated by Fused toes. The expression of the novel gene Ft1 is reduced in Ft/+ mice and completely absent in Ft/Ft embryos. Analysis of the Ft1 cDNA revealed an open reading frame that could code for a 32-kDa protein with similarities to ubiquitin-conjugating enzymes. Ft1 transcripts with alternative 5' UTR sequences as well as differential usage of polyadenylation sites were found. Interestingly, the 3' parts of the longest Ft1 transcripts are identical to the reverse complement of the 3'-most sequences of the Rb-related p130 gene. Both genes are transcribed in opposite directions and overlap in their 3' UTRs. Despite the close linkage, p130 expression appeared not to be affected by the Ft mutation. In wild type mice, Ft1 expression levels were found to be high in brain, kidney, and testes and detectable in all other adult organs and throughout embryonic development. Finally, we show that Ft1 is conserved among mammals and identify the human homolog.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0938-8990
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
879-83
pubmed:dateRevised
2007-7-25
pubmed:meshHeading
pubmed-meshheading:9383278-Abnormalities, Multiple, pubmed-meshheading:9383278-Adaptor Proteins, Signal Transducing, pubmed-meshheading:9383278-Amino Acid Sequence, pubmed-meshheading:9383278-Animals, pubmed-meshheading:9383278-Apoptosis, pubmed-meshheading:9383278-Apoptosis Regulatory Proteins, pubmed-meshheading:9383278-Base Sequence, pubmed-meshheading:9383278-Brain, pubmed-meshheading:9383278-Chromosome Mapping, pubmed-meshheading:9383278-DNA, Complementary, pubmed-meshheading:9383278-Dexamethasone, pubmed-meshheading:9383278-Embryonic and Fetal Development, pubmed-meshheading:9383278-Fetal Heart, pubmed-meshheading:9383278-Gene Expression, pubmed-meshheading:9383278-Genes, pubmed-meshheading:9383278-Genes, Dominant, pubmed-meshheading:9383278-Genes, Overlapping, pubmed-meshheading:9383278-Humans, pubmed-meshheading:9383278-Hyperplasia, pubmed-meshheading:9383278-Mice, pubmed-meshheading:9383278-Mice, Mutant Strains, pubmed-meshheading:9383278-Molecular Sequence Data, pubmed-meshheading:9383278-Morphogenesis, pubmed-meshheading:9383278-Open Reading Frames, pubmed-meshheading:9383278-Phenotype, pubmed-meshheading:9383278-Phosphoproteins, pubmed-meshheading:9383278-Proteins, pubmed-meshheading:9383278-Retinoblastoma-Like Protein p130, pubmed-meshheading:9383278-Sequence Alignment, pubmed-meshheading:9383278-Sequence Homology, Amino Acid, pubmed-meshheading:9383278-Syndactyly, pubmed-meshheading:9383278-T-Lymphocytes, pubmed-meshheading:9383278-Tail, pubmed-meshheading:9383278-Thymus Gland
pubmed:year
1997
pubmed:articleTitle
Ft1, a novel gene related to ubiquitin-conjugating enzymes, is deleted in the Fused toes mouse mutation.
pubmed:affiliation
Institut für Molekularbiologie.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't