Genes Implicated in Prader-Willi Syndrome
(A) Paternally expressed, imprinted genes located within the PWS deletion region are indicated on a genomic map of human chromosome 15q11-q13. Protein coding genes and non-coding RNAs are indicated as circles and vertical lines, respectively. Common breakpoints (BP; X) are found in cases of PWS by deletion of 15q11-q13. (B) The mouse chromosome 7C region has conserved synteny with the human PWS region with a few exceptions: mice do not have a homolog of human NPAP1, and Frat3 occurs exclusively in rodents. The six PWS mouse models in which interventional studies have been performed are indicated below the genomic map, with the approximated location and size of the gene-targeted deletions indicated by triangles. cen, centromere; IC, imprinting center (black box); tel, telomere.