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Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity.

http://www.ncbi.nlm.nih.gov/pubmed/12101250

Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

Pubmed ID: 12101250 RIS Download

Mesh terms: Abnormalities, Multiple | Alleles | Animals | Blepharophimosis | Body Weight | Disease Models, Animal | Fathers | Genomic Imprinting | Growth Disorders | Heterozygote | Intercellular Signaling Peptides and Proteins | Lipid Metabolism | Membrane Proteins | Mice | Mice, Inbred BALB C | Mice, Inbred C57BL | Mice, Knockout | Mothers | Obesity | Phenotype | Repressor Proteins | Ribs | Uniparental Disomy

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Associated grants

  • Agency: NIDDK NIH HHS, Id: DK 50828

Mouse Genome Informatics (Data, Gene Annotation)

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