A new mouse model for Down syndrome

Kazuki, Yasuhiro; Schulz, Thomas C.; Shinohara, Tetsuji; Kadota, Mitsutaka; Nishigaki, Ryuichi; Inoue, Toshiaki; Kimura, Motoshi I; Kai, Yoshiteru; Abe, Satoshi; Shirayoshi, Yasuaki; Oshimura, Mitsuo

doi:10.1007/978-3-7091-6721-2_1

Cited by 9 publications

(6 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The regulation of NORs expression in DS patients' cells, including the NOR situated on the extra chromosome 21 is not fully explained (3). The Down syndrome (DS) region on chromosome 21, which is responsible for the DS main features, has been defined by the analysis of DS patients with partial trisomy 21 (4) and transchromosomal mice (5). Human NORs (rDNA) have been localized at the secondary constriction on the five pairs (13)(14)(15)21, and 22) of acrocentric chromosomes (6).…”

mentioning

confidence: 99%

Flow cytometric comparison of RNA content in peripheral blood mononuclear cells of down syndrome patients and control individuals

Hamurcu

Demirtaş

Kumandaş

2005

Cytometry Part B Clinical

View full text Add to dashboard Cite

Objective: Trisomy 21 or Down syndrome (DS) is the most common genetic cause of mental retardation associated with the immunologic and other known defects. Extra chromosome 21 of DS patients contains an average of 40 extra copies of rRNA genes and the in vivo regulation of these genes' activity is not known. Because over 80% of total cellular RNA is rRNA, the measurement of total cellular RNA provides information on rRNA content. The aim of this work was to determine whether or not the additional chromosome 21 causes any increase in total cellular RNA content in mononuclear cells from peripheral blood (PBMNCs) of these patients and whether or not this content is modified with age.Method: PBMNCs of 48 patients with DS and 48 healthy controls were studied. RNA content of isolated PBMNCs was evaluated by flow cytometric measurements.Results: Average RNA content of younger DS patients' cells was significantly higher than that of healthy controls (P = 0.003). Furthermore, the RNA content decreased significantly with increasing age of DS patients (r = -0.377, P = 0.008) in the range of 0-26 year old, whereas no significant relationship was found between age and PBMNCs' RNA content of healthy controls in the same range of ages.Conclusion: RNA content of PBMNCs from DS patients decreases rapidly with age. This is the first work on the age-dependent decrease of the RNA content in PBMNCs of DS patients. q 2005 International Society for Analytical Cytology

show abstract

mentioning

confidence: 99%

Flow cytometric comparison of RNA content in peripheral blood mononuclear cells of down syndrome patients and control individuals

Hamurcu

Demirtaş

Kumandaş

2005

Cytometry Part B Clinical

View full text Add to dashboard Cite

show abstract

“…Since all the Hsa21 orthologs of the mouse genes in the 3 syntenic regions are located on human 21q, it may be possible to overcome mosaicism and establish a constitutional transchromosomic model by targeting human 21q to a mouse chromosome via Cre/ loxP -mediated recombination ( fig. 4 ) [Kazuki et al, 2003].…”

Section: Constitutional Transchromosomic Mouse Modelsmentioning

confidence: 99%

“…4. A strategy to generate a constitutional transchromosomic mouse model [Kazuki et al, 2003]. A loxP is inserted into the telomere region of a mouse autosome in mouse ES cells while another loxP is inserted into the centromere region of human 21q.…”

Section: Further Genetic Analysis Of Ds-associated Developmental Cognmentioning

confidence: 99%

Mouse Models for Down Syndrome-Associated Developmental Cognitive Disabilities

et al. 2011

View full text Add to dashboard Cite

Down syndrome (DS) is mainly caused by the presence of an extra copy of human chromosome 21 (Hsa21) and is a leading genetic cause for developmental cognitive disabilities in humans. The mouse is a premier model organism for DS because the regions on Hsa21 are syntenically conserved with three regions in the mouse genome, which are located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. With the advance of chromosomal manipulation technologies, new mouse mutants have been generated to mimic DS at both the genotypic and phenotypic levels. Further mouse-based molecular genetic studies in the future may lead to the unraveling of the mechanisms underlying DS-associated developmental cognitive disabilities, which would lay the groundwork for developing effective treatments for this phenotypic manifestation. In this review, we will discuss recent progress and future challenges in modeling DS-associated developmental cognitive disability in mice with an emphasis on hippocampus-related phenotypes.

show abstract

“…This humanized mouse is useful for the study of the expression of factors related to the immune system, identification of genes related to human diseases and the creation of new disease models (Kazuki et al, 2003;Li et al, 2009).…”

Section: Mice That Host Fragments Of Chromosomesmentioning

confidence: 99%

Review article Genetically modified animals for use in research and biotechnology

Chaible¹,

Corat²,

Abdelhay³

et al. 2010

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Transgenic animals are used extensively in the study of in vivo gene function, as models for human diseases and in the production of biopharmaceuticals. The technology behind obtaining these animals involves molecular biology techniques, cell culture and embryo manipulation; the mouse is the species most widely used as an experimental model. In scientific research, diverse models are available as tools for the elucidation of gene function, such as transgenic animals, knockout and conditional knockout animals, knock-in animals, humanized animals, and knockdown animals. We examined the evolution of the science for the development of these animals, as well as the techniques currently used in obtaining these animal models. We review the phenotypic techniques used for elucidation of alterations caused by genetic modification. We also investigated the role of genetically modified animals in the biotechnology industry, where they promise a revolution in obtaining heterologous proteins through natural secretions, such as milk, increas- ing the scale of production and facilitating purification, thereby lowering the cost of production of hormones, growth factors and enzymes.

show abstract

A new mouse model for Down syndrome

Cited by 9 publications

References 52 publications

Flow cytometric comparison of RNA content in peripheral blood mononuclear cells of down syndrome patients and control individuals

Flow cytometric comparison of RNA content in peripheral blood mononuclear cells of down syndrome patients and control individuals

Mouse Models for Down Syndrome-Associated Developmental Cognitive Disabilities

Review article Genetically modified animals for use in research and biotechnology

Contact Info

Product

Resources

About