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

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 impri...
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Autor*in:	Delf-Magnus Kummerfeld [verfasserIn] Carsten A. Raabe [verfasserIn] Juergen Brosius [verfasserIn] Dingding Mo [verfasserIn] Boris V. Skryabin [verfasserIn] Timofey S. Rozhdestvensky [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Prader-Willi syndrome (PWS) Snord116 mouse models Magel2 PWS imprinting center (IC) non-coding RNAs

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 22(2021), 7, p 3613
Übergeordnetes Werk:	volume:22 ; year:2021 ; number:7, p 3613

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.3390/ijms22073613

Katalog-ID:	DOAJ053571029

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520			\|a 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 (<i<PWScr</i<) 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.
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spelling	10.3390/ijms22073613 doi (DE-627)DOAJ053571029 (DE-599)DOAJa8b6a9929bee4a5186ea3dd1c7ffd308 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Delf-Magnus Kummerfeld verfasserin aut A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 (<i<PWScr</i<) 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. Prader-Willi syndrome (PWS) Snord116 mouse models Magel2 PWS imprinting center (IC) non-coding RNAs Biology (General) Chemistry Carsten A. Raabe verfasserin aut Juergen Brosius verfasserin aut Dingding Mo verfasserin aut Boris V. Skryabin verfasserin aut Timofey S. Rozhdestvensky verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 22(2021), 7, p 3613 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:22 year:2021 number:7, p 3613 https://doi.org/10.3390/ijms22073613 kostenfrei https://doaj.org/article/a8b6a9929bee4a5186ea3dd1c7ffd308 kostenfrei https://www.mdpi.com/1422-0067/22/7/3613 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2021 7, p 3613
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callnumber-first	Q - Science
author	Delf-Magnus Kummerfeld
spellingShingle	Delf-Magnus Kummerfeld misc QH301-705.5 misc QD1-999 misc Prader-Willi syndrome (PWS) misc Snord116 misc mouse models misc Magel2 misc PWS imprinting center (IC) misc non-coding RNAs misc Biology (General) misc Chemistry A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research
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topic_title	QH301-705.5 QD1-999 A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research Prader-Willi syndrome (PWS) Snord116 mouse models Magel2 PWS imprinting center (IC) non-coding RNAs
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title	A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research
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title_sort	comprehensive review of genetically engineered mouse models for prader-willi syndrome research
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title_auth	A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research
abstract	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 (<i<PWScr</i<) 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.
abstractGer	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 (<i<PWScr</i<) 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.
abstract_unstemmed	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 (<i<PWScr</i<) 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.
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title_short	A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research
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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 (<i<PWScr</i<) responsible for core symptoms, highlighting the importance of non-protein coding genes in the PWS locus. 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A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research

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