Year: 2020
Type: article
Abstract: Non-mendelian factors may influence 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 orthologues. Accordingly, we examined the influence of parent of origin on expression of 25 murine 22q11 orthologues in the developing and mature CNS using SNP-based analysis in interspecific crosses, as well as 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 brain. 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.
DOI: 10.17615/0ehg-0a82
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4299669456