• Register
X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X

Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.

No
Yes

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

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

Authors

  • Moon YS
  • Smas CM
  • Lee K
  • Villena JA
  • Kim KH
  • Yun EJ
  • Sul HS

Journal

Molecular and cellular biology

Publication Data

August 8, 2002

Associated Grants

  • Agency: NIDDK NIH HHS, Id: DK 50828

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