Long-range expression effects of CNV: insights from Smith-Magenis and Potocki-Lupski syndrome mouse model

ABSTRACT: To study the effect of structural changes on expression, we assessed gene expression in genomic disorder mouse models. Both a microdeletion and its reciprocal microduplication mapping to mouse chromosome 11 (MMU11), which model the rearrangements present in Smith-Magenis (SMS) and Potocki-Lupski (PTLS) syndromes patients, respectively, have been engineered. We profiled the transcriptome of five different tissues affected in human patients in mice with 1n (Deletion/+), 2n (+/+), 3n (Duplication/+) and uniallelic 2n (Deletion/Duplication) copies of the same region in an identical genetic background. The most differentially expressed transcripts between the four studied genotypes were ranked. A highly significant propensity, are mapping to the engineered SMS/PTLS interval in the different ti

ORGANISM(S): Mus musculus

SUBMITTER: Sylvain Pradervand 

PROVIDER: E-GEOD-14802 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress