Model Organisms in the Study of Development and Disease

Bier, Ethan; McGinnis, William

doi:10.1093/med/9780199934522.003.0003

Cited by 11 publications

(8 citation statements)

References 196 publications

(271 reference statements)

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“…Subsequent evolution of genomic architecture and cis‐regulatory elements leading to invertebrate and vertebrate organisms with diverse body plans (Pires‐daSilva and Sommer, ; Peter and Davidson, ). The conservation of signaling pathways and their associated hierarchy of proteins (i.e., transcription factors, structural proteins, and enzymes) has allowed for the use of organisms in the lab as models for understanding the biochemical and morphogenetic function of proteins affected by sequence mutations and environmental perturbations associated with human congenital phenotypes (Bier and McGinnis, ). Due to the high conservation of such developmental genes, it is expected that perturbation of the same genes in invertebrate and vertebrate model systems should lead to similar disruptions in embryonic morphogenesis (Reiter et al., ).…”

mentioning

confidence: 99%

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

2016

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Since the rise of evo-devo (evolutionary developmental biology) in the 1980s, few authors have attempted to combine the increasing knowledge obtained from the study of model organisms and human medicine with data from comparative anatomy and evolutionary biology in order to investigate the links between development, pathology, and macroevolution. Fortunately, this situation is slowly changing, with a renewed interest in evolutionary developmental pathology (evo-devo-path) in the past decades, as evidenced by the idea to publish this special, and very timely, issue on "Developmental Evolution in Biomedical Research." As all of us have recently been involved, independently, in works related in some way or another with evolution and developmental anomalies, we decided to join our different perspectives and backgrounds in the present contribution for this special issue. Specifically, we provide a brief historical account on the study of the links between evolution, development, and pathologies, followed by a review of the recent work done by each of us, and then by a general discussion on the broader developmental and macroevolutionary implications of our studies and works recently done by other authors. Our primary aims are to highlight the strength of studying developmental anomalies within an evolutionary framework to understand morphological diversity and disease by connecting the recent work done by us and others with the research done and broader ideas proposed by authors such as Étienne Geoffroy Saint-Hilaire, Waddington, Goldschmidt, Gould, and Per Alberch, among many others to pave the way for further and much needed work regarding abnormal development and macroevolution.

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confidence: 99%

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

2016

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“…Animal models are fundamental tools in biomedical research because they can fill the gap between basic science and the treatment of human diseases ( Zon, 2016 ). Several different animal models can be used to study the gene function providing new insight into pathophysiology of human disorders ( Bier and McGinnis, 2004 ). Simple models such as Saccharomyces cerevisiae ( Foury, 1997 ) and Dictyostelium discoideum ( Firtel and Chung, 2000 ; Chung et al, 2001 ) proved to be very helpful in elucidating the basic mechanisms of eukaryotic cell function, such as the regulation of the cell cycle, the mechanisms of DNA damage and repair, metabolism, and cell signaling.…”

Section: Introductionmentioning

confidence: 99%

“…Simple models such as Saccharomyces cerevisiae ( Foury, 1997 ) and Dictyostelium discoideum ( Firtel and Chung, 2000 ; Chung et al, 2001 ) proved to be very helpful in elucidating the basic mechanisms of eukaryotic cell function, such as the regulation of the cell cycle, the mechanisms of DNA damage and repair, metabolism, and cell signaling. Similarly, invertebrates like Caenorhabditis elegans ( Aboobaker and Blaxter, 2000 ; Culetto and Sattelle, 2000 ) and Drosophila melanogaster ( Bernards and Hariharan, 2001 ; Reiter et al, 2001 ; Chien et al, 2002 ) represent outstanding models to study genes involved in more complex body plans ( Bier and McGinnis, 2004 ). However, their very high evolutionary distance with a low rate of sequence conservation compared to vertebrates and the huge difference in their anatomy and physiology, limit their use in studying vertebrate-specific embryonic development and in directly modeling human diseases.…”

Section: Introductionmentioning

confidence: 99%

Rare Genetic Blood Disease Modeling in Zebrafish

Rissone

Burgess

2018

Front. Genet.

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Hematopoiesis results in the correct formation of all the different blood cell types. In mammals, it starts from specific hematopoietic stem and precursor cells residing in the bone marrow. Mature blood cells are responsible for supplying oxygen to every cell of the organism and for the protection against pathogens. Therefore, inherited or de novo genetic mutations affecting blood cell formation or the regulation of their activity are responsible for numerous diseases including anemia, immunodeficiency, autoimmunity, hyper- or hypo-inflammation, and cancer. By definition, an animal disease model is an analogous version of a specific clinical condition developed by researchers to gain information about its pathophysiology. Among all the model species used in comparative medicine, mice continue to be the most common and accepted model for biomedical research. However, because of the complexity of human diseases and the intrinsic differences between humans and other species, the use of several models (possibly in distinct species) can often be more helpful and informative than the use of a single model. In recent decades, the zebrafish (Danio rerio) has become increasingly popular among researchers, because it represents an inexpensive alternative compared to mammalian models, such as mice. Numerous advantages make it an excellent animal model to be used in genetic studies and in particular in modeling human blood diseases. Comparing zebrafish hematopoiesis to mammals, it is highly conserved with few, significant differences. In addition, the zebrafish model has a high-quality, complete genomic sequence available that shows a high level of evolutionary conservation with the human genome, empowering genetic and genomic approaches. Moreover, the external fertilization, the high fecundity and the transparency of their embryos facilitate rapid, in vivo analysis of phenotypes. In addition, the ability to manipulate its genome using the last genome editing technologies, provides powerful tools for developing new disease models and understanding the pathophysiology of human disorders. This review provides an overview of the different approaches and techniques that can be used to model genetic diseases in zebrafish, discussing how this animal model has contributed to the understanding of genetic diseases, with a specific focus on the blood disorders.

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“…Similar sets of molecular perturbations can cause different tissue-specific pathologies given the network context in which the perturbation takes place. For example, disruption of energy metabolism can contribute to the development of neurodegenerative disorders, such as Alzheimer’s, in the nervous system, while causing cardiomyopathies in muscle tissues(54). These context-dependent phenotypes are driven by genes that are specifically or preferentially expressed in one or a set of biologically relevant tissue types, also known as tissue-specific and tissue-selective genes, respectively.…”

Section: Introductionmentioning

confidence: 99%

On the scope and limitations of baker’s yeast as a model organism for studying human tissue-specific pathways

Mohammadi

Saberidokht

Subramaniam

et al. 2014

Preprint

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Budding yeast, S. cerevisiae, has been used extensively as a model organism for studying cellular processes in evolutionarily distant species, including humans. However, different human tissues, while inheriting a similar genetic code, exhibit distinct anatomical and physiological properties. Specific biochemical processes and associated biomolecules that differentiate various tissues are not completely understood, neither is the extent to which a unicellular organism, such as yeast, can be used to model these processes within each tissue. We propose a novel computational and statistical framework to systematically quantify the suitability of yeast as a model organism for different human tissues. We develop a computational method for dissecting the human interactome into tissue-specific cellular networks. Using these networks, we simultaneously partition the functional space of human genes, and their corresponding pathways, based on their conservation both across species and among different tissues. We study these subspaces in detail, and relate them to the overall similarity of each tissue with yeast. Many complex disorders are driven by a coupling of housekeeping (universally expressed in all tissues) and tissue-selective (expressed only in specific tissues) dysregulated pathways. We show that human-specific subsets of tissue-selective genes are significantly associated with the onset and development of a number of pathologies. Consequently, they provide excellent candidates as drug targets for therapeutic interventions. We also present a novel tool that can be used to assess the suitability of the yeast model for studying tissue-specific physiology and pathophysiology in humans.

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Model Organisms in the Study of Development and Disease

Cited by 11 publications

References 196 publications

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

Rare Genetic Blood Disease Modeling in Zebrafish

On the scope and limitations of baker’s yeast as a model organism for studying human tissue-specific pathways

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