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Article: Mouse models of aneuploidy to understand chromosome disorders

Tosh, Justin / Tybulewicz, Victor / Fisher, Elizabeth M. C.

Mammalian genome. 2022 Mar., v. 33, no. 1

2022

Abstract: An organism or cell carrying a number of chromosomes that is not a multiple of the haploid count is in a state of aneuploidy. This condition results in significant changes in the level of expression of genes that are gained or lost from the aneuploid ... ...

Abstract	An organism or cell carrying a number of chromosomes that is not a multiple of the haploid count is in a state of aneuploidy. This condition results in significant changes in the level of expression of genes that are gained or lost from the aneuploid chromosome(s) and most cases in humans are not compatible with life. However, a few aneuploidies can lead to live births, typically associated with deleterious phenotypes. We do not understand why phenotypes arise from aneuploid syndromes in humans. Animal models have the potential to provide great insight, but less than a handful of mouse models of aneuploidy have been made, and no ideal system exists in which to study the effects of aneuploidy per se versus those of raised gene dosage. Here, we give an overview of human aneuploid syndromes, the effects on physiology of having an altered number of chromosomes and we present the currently available mouse models of aneuploidy, focusing on models of trisomy 21 (which causes Down syndrome) because this is the most common, and therefore, the most studied autosomal aneuploidy. Finally, we discuss the potential role of carrying an extra chromosome on aneuploid phenotypes, independent of changes in gene dosage, and methods by which this could be investigated further.
Keywords	Down syndrome ; chromosomes ; gene dosage ; genome ; haploidy ; humans ; mice ; physiology ; trisomics
Language	English
Dates of publication	2022-03
Size	p. 157-168.
Publishing place	Springer US
Document type	Article
Note	Review
ZDB-ID	1058547-3
ISSN	1432-1777 ; 0938-8990
ISSN (online)	1432-1777
ISSN	0938-8990
DOI	10.1007/s00335-021-09930-z
Database	NAL-Catalogue (AGRICOLA)

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Zs.A 3489: Show issues

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Article ; Online: Mouse models of aneuploidy to understand chromosome disorders.

Tosh, Justin / Tybulewicz, Victor / Fisher, Elizabeth M C

Mammalian genome : official journal of the International Mammalian Genome Society

2021 Volume 33, Issue 1, Page(s) 157–168

Abstract	An organism or cell carrying a number of chromosomes that is not a multiple of the haploid count is in a state of aneuploidy. This condition results in significant changes in the level of expression of genes that are gained or lost from the aneuploid chromosome(s) and most cases in humans are not compatible with life. However, a few aneuploidies can lead to live births, typically associated with deleterious phenotypes. We do not understand why phenotypes arise from aneuploid syndromes in humans. Animal models have the potential to provide great insight, but less than a handful of mouse models of aneuploidy have been made, and no ideal system exists in which to study the effects of aneuploidy per se versus those of raised gene dosage. Here, we give an overview of human aneuploid syndromes, the effects on physiology of having an altered number of chromosomes and we present the currently available mouse models of aneuploidy, focusing on models of trisomy 21 (which causes Down syndrome) because this is the most common, and therefore, the most studied autosomal aneuploidy. Finally, we discuss the potential role of carrying an extra chromosome on aneuploid phenotypes, independent of changes in gene dosage, and methods by which this could be investigated further.
MeSH term(s)	Aneuploidy ; Animals ; Chromosome Disorders/genetics ; Chromosomes ; Disease Models, Animal ; Down Syndrome/genetics ; Mice ; Trisomy
Language	English
Publishing date	2021-11-01
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1058547-3
ISSN	1432-1777 ; 0938-8990
ISSN (online)	1432-1777
ISSN	0938-8990
DOI	10.1007/s00335-021-09930-z
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Zs.A 3489: Show issues

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Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

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Article ; Online: Affordable optical clearing and immunolabelling in mouse brain slices.

Muza, Phillip M / Pérez, Marta / Noy, Suzanna / Kurosawa, Miyu / Katsouri, Loukia / Tybulewicz, Victor L J / Fisher, Elizabeth M C / West, Steven J

BMC research notes

2023 Volume 16, Issue 1, Page(s) 246

Abstract: Traditional histological analysis is conducted on thin tissue sections, limiting the data capture from large tissue volumes to 2D profiles, and requiring stereological methods for 3D assessment. Recent advances in microscopical and tissue clearing ... ...

Abstract	Traditional histological analysis is conducted on thin tissue sections, limiting the data capture from large tissue volumes to 2D profiles, and requiring stereological methods for 3D assessment. Recent advances in microscopical and tissue clearing methods have facilitated 3D reconstructions of tissue structure. However, staining of large tissue blocks remains a challenge, often requiring specialised and expensive equipment to clear and immunolabel tissue. Here, we present the Affordable Brain Slice Optical Clearing (ABSOC) method: a modified iDISCO protocol which enables clearing and immunolabeling of mouse brain slices up to 1 mm thick using inexpensive reagents and equipment, with no intensive expert training required. We illustrate the use of ABSOC in 1 mm C57BL/6J mouse coronal brain slices sectioned through the dorsal hippocampus and immunolabelled with an anti-calretinin antibody. The ABSOC method can be readily used for histological studies of mouse brain in order to move from the use of very thin tissue sections to large volumes of tissue - giving more representative analysis of biological samples, without the need for sampling of small regions only.
MeSH term(s)	Mice ; Animals ; Mice, Inbred C57BL ; Brain ; Microscopy/methods ; Imaging, Three-Dimensional/methods ; Specimen Handling
Language	English
Publishing date	2023-09-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2413336-X
ISSN	1756-0500 ; 1756-0500
ISSN (online)	1756-0500
ISSN	1756-0500
DOI	10.1186/s13104-023-06511-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.

Serrano, Maria Elisa / Kim, Eugene / Siow, Bernard / Ma, Da / Rojo, Loreto / Simmons, Camilla / Hayward, Darryl / Gibbins, Dorota / Singh, Nisha / Strydom, Andre / Fisher, Elizabeth M C / Tybulewicz, Victor L J / Cash, Diana

Neurobiology of disease

2024 Volume 188, Page(s) 106336

Abstract: Down syndrome (DS) is one of the most common birth defects and the most prevalent genetic form of intellectual disability. DS arises from trisomy of chromosome 21, but its molecular and pathological consequences are not fully understood. In this study, ... ...

Abstract	Down syndrome (DS) is one of the most common birth defects and the most prevalent genetic form of intellectual disability. DS arises from trisomy of chromosome 21, but its molecular and pathological consequences are not fully understood. In this study, we compared Dp1Tyb mice, a DS model, against their wild-type (WT) littermates of both sexes to investigate the impact of DS-related genetic abnormalities on the brain phenotype. We performed
MeSH term(s)	Male ; Female ; Mice ; Animals ; Down Syndrome/pathology ; Trisomy/genetics ; Trisomy/pathology ; Glutamine/metabolism ; Brain/metabolism ; Hippocampus/metabolism ; Disease Models, Animal
Chemical Substances	Glutamine (0RH81L854J)
Language	English
Publishing date	2024-01-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2023.106336
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Zs.A 4444: Show issues

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ab Jg. 2022: Lesesaal (EG)

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Article ; Online: Mouse models of neurodegeneration: Know your question, know your mouse.

Fisher, Elizabeth M C / Bannerman, David M

Science translational medicine

2019 Volume 11, Issue 493

Abstract: Many mutant mouse strains have been developed as models to investigate neurodegenerative disease in humans. However, variability in results among studies using these mouse strains has led to questions about the value of these models. Here, we appraise ... ...

Abstract	Many mutant mouse strains have been developed as models to investigate neurodegenerative disease in humans. However, variability in results among studies using these mouse strains has led to questions about the value of these models. Here, we appraise various mouse models for dissecting neurodegenerative disease mechanisms and emphasize the importance of asking appropriate research questions. In therapeutic studies, we suggest that understanding variability among and within mouse models is crucial for preventing translational failures in human patients.
MeSH term(s)	Animals ; Circadian Rhythm ; Disease Models, Animal ; Humans ; Mice ; Microbiota ; Mutation/genetics ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Translational Medical Research
Language	English
Publishing date	2019-05-22
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2518854-9
ISSN	1946-6242 ; 1946-6234
ISSN (online)	1946-6242
ISSN	1946-6234
DOI	10.1126/scitranslmed.aaq1818
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Zs.A 6941: Show issues

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Article ; Online: Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome.

Cannavo, Claudia / Cleverley, Karen / Maduro, Cheryl / Mumford, Paige / Moulding, Dale / Fisher, Elizabeth M C / Wiseman, Frances K

PloS one

2022 Volume 17, Issue 5, Page(s) e0262558

Abstract: Individuals who have Down syndrome (trisomy 21) are at greatly increased risk of developing Alzheimer's disease, characterised by the accumulation in the brain of amyloid-β plaques. Amyloid-β is a product of the processing of the amyloid precursor ... ...

Abstract	Individuals who have Down syndrome (trisomy 21) are at greatly increased risk of developing Alzheimer's disease, characterised by the accumulation in the brain of amyloid-β plaques. Amyloid-β is a product of the processing of the amyloid precursor protein, encoded by the APP gene on chromosome 21. In Down syndrome the first site of amyloid-β accumulation is within endosomes, and changes to endosome biology occur early in Alzheimer's disease. Here, we determine if primary mouse embryonic fibroblasts isolated from a mouse model of Down syndrome can be used to study endosome and APP cell biology. We report that in this cellular model, endosome number, size and APP processing are not altered, likely because APP is not dosage sensitive in the model, despite three copies of App.
MeSH term(s)	Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Amyloid beta-Peptides/metabolism ; Amyloid beta-Protein Precursor/genetics ; Amyloid beta-Protein Precursor/metabolism ; Animals ; Biology ; Down Syndrome/genetics ; Down Syndrome/metabolism ; Endosomes/metabolism ; Fibroblasts/metabolism ; Mice ; Plaque, Amyloid/metabolism
Chemical Substances	Amyloid beta-Peptides ; Amyloid beta-Protein Precursor
Language	English
Publishing date	2022-05-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0262558
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Mary Frances Lyon (1925–2014).

Fisher, Elizabeth M C / Peters, Jo

Cell

2015 Volume 160, Issue 4, Page(s) 577–578

MeSH term(s)	Animals ; Epigenomics ; Genetics/history ; History, 20th Century ; Human Genome Project ; United Kingdom ; X Chromosome Inactivation
Language	English
Publishing date	2015-03-24
Publishing country	United States
Document type	Biography ; Historical Article ; Journal Article
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2015.01.039
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Zs.A 1167: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 58: Show issues

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Article ; Online: Humanising the mouse genome piece by piece.

Zhu, Fei / Nair, Remya R / Fisher, Elizabeth M C / Cunningham, Thomas J

Nature communications

2019 Volume 10, Issue 1, Page(s) 1845

Abstract: To better understand human health and disease, researchers create a wide variety of mouse models that carry human DNA. With recent advances in genome engineering, the targeted replacement of mouse genomic regions with orthologous human sequences has ... ...

Abstract	To better understand human health and disease, researchers create a wide variety of mouse models that carry human DNA. With recent advances in genome engineering, the targeted replacement of mouse genomic regions with orthologous human sequences has become increasingly viable, ranging from finely tuned humanisation of individual nucleotides and amino acids to the incorporation of many megabases of human DNA. Here, we examine emerging technologies for targeted genomic humanisation, we review the spectrum of existing genomically humanised mouse models and the insights such models have provided, and consider the lessons learned for designing such models in the future.
MeSH term(s)	Animals ; Chromosomes, Human/genetics ; Gene Editing/methods ; Gene Editing/trends ; Gene Transfer Techniques/trends ; Genome, Human/genetics ; Humans ; Mice/genetics ; Mice, Transgenic ; Models, Animal ; Research Design
Language	English
Publishing date	2019-04-23
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-019-09716-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21.

Cannavo, Claudia / Tosh, Justin / Fisher, Elizabeth M C / Wiseman, Frances K

Progress in brain research

2019 Volume 251, Page(s) 181–208

Abstract: People who have Down syndrome are at significantly elevated risk of developing early onset Alzheimer's disease that causes dementia (AD-DS). Here we review recent progress in modeling the development of AD-DS in mouse models. These studies provide ... ...

Abstract	People who have Down syndrome are at significantly elevated risk of developing early onset Alzheimer's disease that causes dementia (AD-DS). Here we review recent progress in modeling the development of AD-DS in mouse models. These studies provide insight into mechanisms underlying Alzheimer's disease and generate new clinical research questions. In addition, they suggest potential new targets for disease prevention therapies.
MeSH term(s)	Alzheimer Disease/drug therapy ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Animals ; Disease Models, Animal ; Down Syndrome/drug therapy ; Down Syndrome/genetics ; Down Syndrome/metabolism ; Down Syndrome/pathology ; Mice
Language	English
Publishing date	2019-11-29
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ISSN	1875-7855 ; 0079-6123
ISSN (online)	1875-7855
ISSN	0079-6123
DOI	10.1016/bs.pbr.2019.10.004
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice.

Sloan, Kourtney / Thomas, Jared / Blackwell, Matthew / Voisard, Deanna / Lana-Elola, Eva / Watson-Scales, Sheona / Roper, Daniel L / Wallace, Joseph M / Fisher, Elizabeth M C / Tybulewicz, Victor L J / Roper, Randall J

Disease models & mechanisms

2023 Volume 16, Issue 4

Abstract: Down syndrome (DS) phenotypes result from triplicated genes, but the effects of three copy genes are not well known. A mouse mapping panel genetically dissecting human chromosome 21 (Hsa21) syntenic regions was used to investigate the contributions and ... ...

Abstract	Down syndrome (DS) phenotypes result from triplicated genes, but the effects of three copy genes are not well known. A mouse mapping panel genetically dissecting human chromosome 21 (Hsa21) syntenic regions was used to investigate the contributions and interactions of triplicated Hsa21 orthologous genes on mouse chromosome 16 (Mmu16) on skeletal phenotypes. Skeletal structure and mechanical properties were assessed in femurs of male and female Dp9Tyb, Dp2Tyb, Dp3Tyb, Dp4Tyb, Dp5Tyb, Dp6Tyb, Ts1Rhr and Dp1Tyb;Dyrk1a+/+/- mice. Dp1Tyb mice, with the entire Hsa21 homologous region of Mmu16 triplicated, display bone deficits similar to those of humans with DS and served as a baseline for other strains in the panel. Bone phenotypes varied based on triplicated gene content, sex and bone compartment. Three copies of Dyrk1a played a sex-specific, essential role in trabecular deficits and may interact with other genes to influence cortical deficits related to DS. Triplicated genes in Dp9Tyb and Dp2Tyb mice improved some skeletal parameters. As triplicated genes can both improve and worsen bone deficits, it is important to understand the interaction between and molecular mechanisms of skeletal alterations affected by these genes.
MeSH term(s)	Humans ; Mice ; Male ; Female ; Animals ; Down Syndrome/genetics ; Chromosomes, Human, Pair 21 ; Disease Models, Animal ; Phenotype
Language	English
Publishing date	2023-04-26
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2451104-3
ISSN	1754-8411 ; 1754-8403
ISSN (online)	1754-8411
ISSN	1754-8403
DOI	10.1242/dmm.049927
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