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Published on: July 3, 2020
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice
Stormy J Chamberlain1, Karen A Johnstone, Amanda J DuBose
1Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32610, USA.
Insights
Prader-Willi syndrome (PWS) mouse models previously died shortly after birth. This study found that PWS-imprinting center deletion mice can survive on specific genetic backgrounds, revealing crucial modifier genes.
Area of Science:
- Genetics
- Developmental Biology
- Genomic Imprinting
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Key features include hypotonia, short stature, and obesity.
- Existing PWS mouse models exhibit limited utility due to postnatal lethality.
Purpose of the Study:
- To investigate the survival of Prader-Willi syndrome-imprinting center (PWS-IC) deletion mice.
- To identify factors contributing to the survival of PWS mouse models.
- To overcome limitations of current PWS mouse models.
Main Methods:
- Generation of PWS-IC deletion mice.
- Analysis of mouse survival across various strain backgrounds.
- Gene expression analysis in PWS-IC deletion pups.
Main Results:
- PWS-IC deletion mice survived on specific genetic backgrounds.
- Low-level expression from both parental alleles was observed.
- This expression did not fully account for the observed survival rates.
Conclusions:
- Survival of PWS-IC deletion mice is influenced by genetic background.
- Strain-specific modifier genes play a critical role in PWS mouse survival.
- This research provides a foundation for improved PWS mouse models.
Abstract:
Prader-Willi syndrome (PWS), most notably characterized by infantile hypotonia, short stature and morbid obesity, results from deficiencies in multiple genes that are subject to genomic imprinting. The usefulness of current mouse models of PWS has been limited by postnatal lethality in affected mice. Here, we report the survival of the PWS-imprinting center (IC) deletion mice on a variety of strain backgrounds. Expression analyses of the genes affected in the PWS region suggest that while there is low-level expression from both parental alleles in PWS-IC deletion pups, this expression does not explain their survival on certain strain backgrounds. Rather, the data provide evidence for strain-specific modifier genes that support the survival of PWS-IC deletion mice.
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