title: No evidence for parental imprinting of mouse 22q11 gene orthologs.
abstract: Non-Mendelian factors may influence central nervous system (CNS) phenotypes in patients with 22q11 Deletion Syndrome (22q11DS, also known as DiGeorge or Velocardiofacial Syndrome), and similar mechanisms may operate in mice carrying a deletion of one or more 22q11 gene orthologs. Accordingly, we examined the influence of parent of origin on expression of 25 murine 22q11 orthologs in the developing and mature CNS using single nucleotide polymorphism (SNP)-based analysis in interspecific crosses and quantification of mRNA in a murine model of 22q11DS. We found no evidence for absolute genomic imprinting or silencing. All 25 genes are biallelically expressed in the developing and adult brains. Furthermore, if more subtle forms of allelic biasing are present, they are very small in magnitude and most likely beyond the resolution of currently available quantitative approaches. Given the high degree of similarity of human 22q11 and the orthologous region of mmChr16, genomic imprinting most likely cannot explain apparent parent-of-origin effects in 22q11DS.
authors.affiliation: UNC Silvio O. Conte Center for the Neuroscience of Mental Disorders, University of North Carolina, Chapel Hill, North Carolina, 27599, USA.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Maynard
authors.forename: Daniel W
authors.initials: DW
authors.lastname: Meechan
authors.forename: Clifford C
authors.initials: CC
authors.lastname: Heindel
authors.forename: Amanda Z
authors.initials: AZ
authors.lastname: Peters
authors.forename: Robert M
authors.initials: RM
authors.lastname: Hamer
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Lieberman
authors.forename: Anthony-Samuel
authors.initials: AS
authors.lastname: LaMantia
mesh_terms: D000483:Alleles; D000818:Animals; D003433:Crosses, Genetic; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression; D020868:Gene Silencing; D018392:Genomic Imprinting / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D020641:Polymorphism, Single Nucleotide; D017385:Sequence Homology