Single-cell uniparental disomies and mother-offspring interaction: A comparative study

Imprinted genes are expressed throughout the brain, exhibiting distinct allelic distribution in specific regions. To understand the imprinting status and their role in brain functions, we investigated the specific effects of uniparental disomy (UPD) by using a mouse model called Mosaic Analysis with Double Markers (MADM), which allows for the production of maternal and paternal UPD cell populations within the brain.By in silico enrichment analysis, chromosomes 2, 7, and 12 appear to be enriched in imprinted and behaviorally relevant genes, with different effects on post-natal development. Specifically, MADM2, 7, and 12 present specific ultrasonic vocalization profiles, with MADM7 and MADM12 showing also changes in body weight and growth rate.Furthermore, we also characterize the localization of disomic cells in the adult brain: Ch.12 disomic cells appear to be enriched in the thalamic ventroposteromedial nucleus (VPM) and hypothalamic arcuate nucleus (Arc), with a biased maternal vs paternal UPD cell distribution.Finally, we investigated the effect of Ch.12 disomic cell distribution on the adult mouse behavior, showing changes in the ultrasonic vocalizations profile and altered maternal attachment of pups born from disomic mothers.These findings suggest that imprinted genes on different mouse chromosomes differently affect postnatal development and participate in the formation of both young and adult mouse behaviors. Overall, this study sheds light on the role of genomic imprinting in brain development and function.