Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)

J Clin Invest. 2006 Nov;116(11):3035-41. doi: 10.1172/JCI28953. Epub 2006 Oct 5.

Abstract

Genomic disorders are conditions that result from DNA rearrangements, such as deletions or duplications. The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is important for the elucidation of genes responsible for complex neurobehavioral phenotypes. Smith-Magenis syndrome is associated with a 3.7-Mb deletion in 17p11.2, and its clinical presentation is caused by retinoic acid inducible 1 (RAI1) haploinsufficiency. The reciprocal microduplication syndrome, dup(17)(p11.2p11.2), manifests several neurobehavioral abnormalities, but the responsible dosage-sensitive gene(s) remain undefined. We previously generated a mouse model for dup(17)(p11.2p11.2), Dp(11)17/+, that recapitulated most of the phenotypes observed in human patients. We have now analyzed compound heterozygous mice carrying a duplication [Dp(11)17] in one chromosome 11 along with a null allele of Rai1 in the other chromosome 11 homologue [Dp(11)17/Rai1(-) mice] in order to study the relationship between Rai1 gene copy number and the Dp(11)17/+ phenotypes. Normal disomic Rai1 gene dosage was sufficient to rescue the complex physical and behavioral phenotypes observed in Dp(11)17/+ mice, despite altered trisomic copy number of the other 18 genes present in the rearranged genomic interval. These data provide a model for variation in copy number of single genes that could influence common traits such as obesity and behavior.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Behavior, Animal*
  • Body Weight
  • Chromosomes, Mammalian / genetics*
  • Disease Models, Animal
  • Female
  • Gene Dosage / genetics
  • Gene Duplication*
  • Genetic Variation / genetics
  • Genome / genetics
  • Learning
  • Male
  • Memory
  • Mice
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism*
  • Nervous System Diseases / pathology
  • Phenotype*
  • Trans-Activators / genetics*
  • Trans-Activators / metabolism*

Substances

  • Rai1 protein, mouse
  • Trans-Activators