A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research

Autor: Delf-Magnus Kummerfeld, Timofey S. Rozhdestvensky, Carsten A. Raabe, Dingding Mo, Juergen Brosius, Boris V. Skryabin
Rok vydání: 2021
Předmět:
Male
0301 basic medicine
congenital
hereditary
and neonatal diseases and abnormalities
Locus (genetics)
Review
Disease
Biology
PWS imprinting center (IC)
Catalysis
lcsh:Chemistry
Inorganic Chemistry
Genomic Imprinting
Mice
03 medical and health sciences
0302 clinical medicine
Prader-Willi syndrome (PWS)
Homologous chromosome
Animals
Humans
RNA
Small Nucleolar
mouse models
Physical and Theoretical Chemistry
Imprinting (psychology)
lcsh:QH301-705.5
Molecular Biology
Gene
Spectroscopy
Genetics
Genome
Magel2
Organic Chemistry
Snord116
Chromosome Mapping
nutritional and metabolic diseases
Chromosome
General Medicine
DNA Methylation
nervous system diseases
Computer Science Applications
Disease Models
Animal
030104 developmental biology
lcsh:Biology (General)
lcsh:QD1-999
Genetically Engineered Mouse
non-coding RNAs
Genetic Engineering
Genomic imprinting
Prader-Willi Syndrome
030217 neurology & neurosurgery
Zdroj: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 3613, p 3613 (2021)
ISSN: 1422-0067
DOI: 10.3390/ijms22073613
Popis: Prader-Willi syndrome (PWS) is a neurogenetic multifactorial disorder caused by the deletion or inactivation of paternally imprinted genes on human chromosome 15q11-q13. The affected homologous locus is on mouse chromosome 7C. The positional conservation and organization of genes including the imprinting pattern between mice and men implies similar physiological functions of this locus. Therefore, considerable efforts to recreate the pathogenesis of PWS have been accomplished in mouse models. We provide a summary of different mouse models that were generated for the analysis of PWS and discuss their impact on our current understanding of corresponding genes, their putative functions and the pathogenesis of PWS. Murine models of PWS unveiled the contribution of each affected gene to this multi-facetted disease, and also enabled the establishment of the minimal critical genomic region (PWScr) responsible for core symptoms, highlighting the importance of non-protein coding genes in the PWS locus. Although the underlying disease-causing mechanisms of PWS remain widely unresolved and existing mouse models do not fully capture the entire spectrum of the human PWS disorder, continuous improvements of genetically engineered mouse models have proven to be very powerful and valuable tools in PWS research.
Databáze: OpenAIRE
Externí odkaz: