Mouse models of Prader-Willi Syndrome: a systematic review

Front Neuroendocrinol. 2013 Apr;34(2):107-19. doi: 10.1016/j.yfrne.2013.01.002. Epub 2013 Feb 4.

Abstract

Prader-Willi Syndrome (PWS) is a neurodevelopmental genetic disorder caused by loss of expression of imprinted, paternally inherited genes on chromosome 15q11q13. This imprinted gene cluster has its homologous region on mouse chromosome 7C. The extremely well conserved synteny between the human and the murine regions gave origin to the generation of mouse models for PWS, which facilitated investigations of the role and function of single genes or gene clusters in the pathogenesis of this disease. In this review we will describe which mouse models have been generated so far and how they were developed; we will focus on the consequences of single genes' (or gene clusters') loss of expression on the phenotype, highlighting the similarities to the human PWS features. PWS mouse models have brought major improvements in our knowledge about this complex condition, although the mechanisms implicated in its pathogenesis still remain not fully understood.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Animals
  • Antigens, Neoplasm / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Disease Models, Animal
  • Genomic Imprinting
  • Humans
  • Mice
  • Mice, Knockout
  • Multigene Family / genetics
  • Nerve Tissue Proteins / deficiency
  • Nuclear Proteins / deficiency
  • Nuclear Proteins / genetics
  • Prader-Willi Syndrome / genetics*
  • Proteins / genetics
  • RNA, Small Nucleolar / genetics
  • Synteny
  • snRNP Core Proteins / genetics

Substances

  • Antigens, Neoplasm
  • Magel2 protein, mouse
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Proteins
  • RNA, Small Nucleolar
  • SNURF protein, human
  • necdin
  • snRNP Core Proteins