scholarly journals Coat Color-Facilitated Efficient Generation and Analysis of a Mouse Model of Down Syndrome Triplicated for All Human Chromosome 21 Orthologous Regions

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1215
Author(s):  
Yichen Li ◽  
Zhuo Xing ◽  
Tao Yu ◽  
Annie Pao ◽  
Marcel Daadi ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Coat Color ◽  
Gene Dosage ◽  
Chromosome 21 ◽  
Complete Model ◽  
Hsa21 Gene ◽  
Human Chromosome 21 ◽  
Compound Model ◽  
Gene Orthologs

Down syndrome (DS) is one of the most complex genetic disorders in humans and a leading genetic cause of developmental delays and intellectual disabilities. The mouse remains an essential model organism in DS research because human chromosome 21 (Hsa21) is orthologously conserved with three regions in the mouse genome. Recent studies have revealed complex interactions among different triplicated genomic regions and Hsa21 gene orthologs that underlie major DS phenotypes. Because we do not know conclusively which triplicated genes are indispensable in such interactions for a specific phenotype, it is desirable that all evolutionarily conserved Hsa21 gene orthologs are triplicated in a complete model. For this reason, the Dp(10)1Yey/+;Dp(16)1Yey/+;Dp(17)1Yey/+ mouse is the most complete model of DS to reflect gene dosage effects because it is the only mutant triplicated for all Hsa21 orthologous regions. Recently, several groups have expressed concerns that efforts needed to generate the triple compound model would be so overwhelming that it may be impractical to take advantage of its unique strength. To alleviate these concerns, we developed a strategy to drastically improve the efficiency of generating the triple compound model with the aid of a targeted coat color, and the results confirmed that the mutant mice generated via this approach exhibited cognitive deficits.

Of mice and Down syndrome

Blood ◽  
2008 ◽  
Vol 111 (2) ◽  
pp. 472-472 ◽  
Author(s):  
Jeffrey W. Taub
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Chromosome 21 ◽  
Ts65dn Mouse ◽  
Human Chromosome 21 ◽  
Shed Light

Analyzing hematopoiesis in the Ts65Dn mouse, which is trisomic for many orthologs of human chromosome 21 genes, may shed light on leukemogenesis in Down syndrome, as demonstrated by Kirsammer and colleagues in this issue.

scholarly journals Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Cicchini ◽  
Michael B. Petersen ◽  
Lisbeth Tranebjærg ◽  
Teresa Mattina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Critical Region ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Human Chromosome 21

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

2020 ◽  
Vol 139 (12) ◽  
pp. 1555-1563 ◽  
Author(s):  
Taichi Imaizumi ◽  
Keiko Yamamoto-Shimojima ◽  
Tomoe Yanagishita ◽  
Yumiko Ondo ◽  
Eriko Nishi ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Clinical Features ◽  
Chromosomal Rearrangements ◽  
Chromosome 21 ◽  
Human Chromosome 21 ◽  
Complex Chromosomal Rearrangements

scholarly journals RETRACTED: Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts

2008 ◽  
Vol 370 (3) ◽  
pp. 473-477 ◽  
Author(s):  
Donald E. Kuhn ◽  
Gerard J. Nuovo ◽  
Mickey M. Martin ◽  
Geraldine E. Malana ◽  
Adam P. Pleister ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Chromosome 21 ◽  
Human Chromosome 21

scholarly journals The Use of Mouse Models for Understanding the Biology of Down Syndrome and Aging

2012 ◽  
Vol 2012 ◽  
pp. 1-20 ◽  
Author(s):  
Guido N. Vacano ◽  
Nathan Duval ◽  
David Patterson
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Mouse Models ◽  
Targeted Mutagenesis ◽  
Chromosome 21 ◽  
Practical Reasons ◽  
Future Directions ◽  
Human Chromosome 21 ◽  
Biology Of Aging ◽  
Chromosome Regions

Down syndrome is a complex condition caused by trisomy of human chromosome 21. The biology of aging may be different in individuals with Down syndrome; this is not well understood in any organism. Because of its complexity, many aspects of Down syndrome must be studied either in humans or in animal models. Studies in humans are essential but are limited for ethical and practical reasons. Fortunately, genetically altered mice can serve as extremely useful models of Down syndrome, and progress in their production and analysis has been remarkable. Here, we describe various mouse models that have been used to study Down syndrome. We focus on segmental trisomies of mouse chromosome regions syntenic to human chromosome 21, mice in which individual genes have been introduced, or mice in which genes have been silenced by targeted mutagenesis. We selected a limited number of genes for which considerable evidence links them to aspects of Down syndrome, and about which much is known regarding their function. We focused on genes important for brain and cognitive function, and for the altered cancer spectrum seen in individuals with Down syndrome. We conclude with observations on the usefulness of mouse models and speculation on future directions.

Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome

1989 ◽  
Vol 83 (1) ◽  
pp. 58-60 ◽  
Author(s):  
Guy Van Camp ◽  
Piet Stinissen ◽  
Wim Van Hul ◽  
Hubert Backhovens ◽  
Anita Wehnert ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Genetic Analysis ◽  
Human Chromosome ◽  
Alzheimer’S Dementia ◽  
Dna Probes ◽  
Chromosome 21 ◽  
Alzheimer's Dementia ◽  
Human Chromosome 21 ◽  
Selection Of
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