Rat Models of Human Diseases and Related Phenotypes: A Novel Inventory of Causative Genes

Szpirer, Claude

doi:10.1007/s00335-021-09876-2

Cited by 4 publications

(1 citation statement)

References 24 publications

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“…The first instance of positional cloning of the causative gene in a rat disease model was achieved by our group in 2001 [ 13 ]. As of 2022, at least 108 monogenic disease-related genes are identified by the forward genetics approach using rat disease models [ 14 , 15 ].…”

Section: Forward Genetics Approach For Identifying Mutated Rat Genesmentioning

confidence: 99%

Positional cloning of rat mutant genes reveals new functions of these genes

Kuramoto

2023

Exp. Anim.

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The laboratory rat (Rattus norvegicus) is a key model organism for biomedical research. Rats can be subjected to strict genetic and environmental controls. The rat's large body size is suitable for both surgical operations and repeated measurements of physiological parameters. These advantages have led to the development of numerous rat models for genetic diseases. Forward genetics is a proven approach for identifying the causative genes of these disease models but requires genome resources including genetic markers and genome sequences. Over the last few decades, rat genome resources have been developed and deposited in bioresource centers, which have enabled us to perform positional cloning in rats. To date, more than 100 disease-related genes have been identified by positional cloning. Since some disease models are more accessible in rats than mice, the identification of causative genes in these models has sometimes led to the discovery of novel functions of genes. As before, various mutant rats are also expected to be discovered and developed as disease models in the future. Thus, the forward genetics continues to be an important approach to find genes involved in disease phenotypes in rats. In this review, I provide an overview the development of rat genome resources and describe examples of positional cloning in rats in which novel gene functions have been identified. Rat Resource and Research Center (RRRC)The Rat Resource and Research Center (RRRC, http://www.rrrc.us/) is managed by the University of Missouri. The RRRC's major services are to curate valuable rat lines for cryopreservation and rederivation, as well as to distribute rat strains. The Center's research is focused on improving cryopreservation and in vitro fertilization, generating new rat models, and characterizing the gut microbiota of rat models. The RRRC also provides colony management and breeding services, genetic testing, and microinjection services. Recently, a total of ten Cre rat lines were generated, including eight for neural-specific and two for cardiovascular-specific Cre expression [10].

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Section: Forward Genetics Approach For Identifying Mutated Rat Genesmentioning

confidence: 99%

Positional cloning of rat mutant genes reveals new functions of these genes

Kuramoto

2023

Exp. Anim.

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Genetically Altered Rodents

Crispo,

Meikle,

Delerue

et al. 2024

Laboratory Animal Science and Medicine

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The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research

et al. 2021

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Model organism research is essential for discovering the mechanisms of human diseases by defining biologically meaningful gene to disease relationships. The Rat Genome Database (RGD, (https://rgd.mcw.edu)) is a cross-species knowledgebase and the premier online resource for rat genetic and physiologic data. This rich resource is enhanced by the inclusion and integration of comparative data for human and mouse, as well as other human disease models including chinchilla, dog, bonobo, pig, 13-lined ground squirrel, green monkey, and naked mole-rat. Functional information has been added to records via the assignment of annotations based on sequence similarity to human, rat, and mouse genes. RGD has also imported well-supported cross-species data from external resources. To enable use of these data, RGD has developed a robust infrastructure of standardized ontologies, data formats, and disease- and species-centric portals, complemented with a suite of innovative tools for discovery and analysis. Using examples of single-gene and polygenic human diseases, we illustrate how data from multiple species can help to identify or confirm a gene as involved in a disease and to identify model organisms that can be studied to understand the pathophysiology of a gene or pathway. The ultimate aim of this report is to demonstrate the utility of RGD not only as the core resource for the rat research community but also as a source of bioinformatic tools to support a wider audience, empowering the search for appropriate models for human afflictions.

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Rat Models of Human Diseases and Related Phenotypes: A Novel Inventory of Causative Genes

Cited by 4 publications

References 24 publications

Positional cloning of rat mutant genes reveals new functions of these genes

Positional cloning of rat mutant genes reveals new functions of these genes

Genetically Altered Rodents

The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research

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