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Animals Models in Diseases Genetics
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Animals Models in Diseases Genetics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (25 August 2023) | Viewed by 13211

Special Issue Editors

Dr. Takahiro Yoshizawa

E-Mail Website
Guest Editor
Division of Animal Research, Research Center for Advanced Science and Technology, Shinshu University, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
Interests: animal model; rare disease; facioscapulohumeral muscular dystrophy (FSHD); musculocontractural Ehlers–Danlos syndrome (mcEDS)
Dr. Daigo Miyazaki

E-Mail Website
Guest Editor
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Asahi 3-1-1, Matsumoto 390-8621, Japan
Interests: Becker-type muscular dystrophy (BMD); Duchenne-type muscular dystrophy (DMD); animal models; muscle pathology

Special Issue Information

Dear Colleagues,

Medical technology has recently progressed rapidly, and causative genes of many diseases have been identified. In typical diseases, such as cardiovascular disease, diabetes, and cancer, abundant methods of treatment have been developed and human welfare has increased. Investigations into disease genetics were advanced and causative genes of many rare diseases were also clarified. Currently, over 7000 rare diseases have been identified, and they affect more than 250 million people in the world. Unfortunately, most rare diseases lack effective treatments due to difficulties in the investigation of those diseases with small numbers of the patients. Animal models can be considered powerful and essential means by which to investigate pathophysiological mechanisms and therapeutic strategies of hereditary diseases. This Special Issue introduces the animal models of rare diseases. 

Dr. Takahiro Yoshizawa
Dr. Daigo Miyazaki
Guest Editors

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Keywords

  • rare disease
  • animal model
  • hereditary disease

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Published Papers (5 papers)

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Research

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11 pages, 2341 KiB  
Article
Generation and Characterization of a Transgenic Mouse That Specifically Expresses the Cre Recombinase in Spermatids
by Clara Gobé, Côme Ialy-Radio, Rémi Pierre and Julie Cocquet
Genes 2023, 14(5), 983; https://doi.org/10.3390/genes14050983 - 27 Apr 2023
Cited by 1 | Viewed by 2868
Abstract
Spermiogenesis is the step during which post-meiotic cells, called spermatids, undergo numerous morphological changes and differentiate into spermatozoa. Thousands of genes have been described to be expressed at this stage and could contribute to spermatid differentiation. Genetically-engineered mouse models using Cre/LoxP or [...] Read more.
Spermiogenesis is the step during which post-meiotic cells, called spermatids, undergo numerous morphological changes and differentiate into spermatozoa. Thousands of genes have been described to be expressed at this stage and could contribute to spermatid differentiation. Genetically-engineered mouse models using Cre/LoxP or CrispR/Cas9 are the favored approaches to characterize gene function and better understand the genetic basis of male infertility. In the present study, we produced a new spermatid-specific Cre transgenic mouse line, in which the improved iCre recombinase is expressed under the control of the acrosomal vesicle protein 1 gene promoter (Acrv1-iCre). We show that Cre protein expression is restricted to the testis and only detected in round spermatids of stage V to VIII seminiferous tubules. The Acrv1-iCre line can conditionally knockout a gene during spermiogenesis with a > 95% efficiency. Therefore, it could be useful to unravel the function of genes during the late stage of spermatogenesis, but it can also be used to produce an embryo with a paternally deleted allele without causing early spermatogenesis defects. Full article
(This article belongs to the Special Issue Animals Models in Diseases Genetics)
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Review

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16 pages, 2130 KiB  
Review
Recent Progress on Genetically Modified Animal Models for Membrane Skeletal Proteins: The 4.1 and MPP Families
by Nobuo Terada, Yurika Saitoh, Masaki Saito, Tomoki Yamada, Akio Kamijo, Takahiro Yoshizawa and Takeharu Sakamoto
Genes 2023, 14(10), 1942; https://doi.org/10.3390/genes14101942 - 15 Oct 2023
Cited by 1 | Viewed by 1667
Abstract
The protein 4.1 and membrane palmitoylated protein (MPP) families were originally found as components in the erythrocyte membrane skeletal protein complex, which helps maintain the stability of erythrocyte membranes by linking intramembranous proteins and meshwork structures composed of actin and spectrin under the [...] Read more.
The protein 4.1 and membrane palmitoylated protein (MPP) families were originally found as components in the erythrocyte membrane skeletal protein complex, which helps maintain the stability of erythrocyte membranes by linking intramembranous proteins and meshwork structures composed of actin and spectrin under the membranes. Recently, it has been recognized that cells and tissues ubiquitously use this membrane skeletal system. Various intramembranous proteins, including adhesion molecules, ion channels, and receptors, have been shown to interact with the 4.1 and MPP families, regulating cellular and tissue dynamics by binding to intracellular signal transduction proteins. In this review, we focus on our previous studies regarding genetically modified animal models, especially on 4.1G, MPP6, and MPP2, to describe their functional roles in the peripheral nervous system, the central nervous system, the testis, and bone formation. As the membrane skeletal proteins are located at sites that receive signals from outside the cell and transduce signals inside the cell, it is necessary to elucidate their molecular interrelationships, which may broaden the understanding of cell and tissue functions. Full article
(This article belongs to the Special Issue Animals Models in Diseases Genetics)
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13 pages, 753 KiB  
Review
Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations
by Mitsunori Fujino, Masami Ojima and Satoru Takahashi
Genes 2023, 14(10), 1883; https://doi.org/10.3390/genes14101883 - 27 Sep 2023
Cited by 3 | Viewed by 1704
Abstract
Large musculoaponeurotic fibrosarcoma (MAF) transcription factors contain acidic, basic, and leucine zipper regions. Four types of MAF have been elucidated in mice and humans, namely c-MAF, MAFA, MAFB, and NRL. This review aimed to elaborate on the functions of MAF transcription factors that [...] Read more.
Large musculoaponeurotic fibrosarcoma (MAF) transcription factors contain acidic, basic, and leucine zipper regions. Four types of MAF have been elucidated in mice and humans, namely c-MAF, MAFA, MAFB, and NRL. This review aimed to elaborate on the functions of MAF transcription factors that have been studied in vivo so far, as well as describe the pathology of human patients and corresponding mouse models with c-MAF, MAFA, and MAFB point mutations. To identify the functions of MAF transcription factors in vivo, we generated genetically modified mice lacking c-MAF, MAFA, and MAFB and analyzed their phenotypes. Further, in recent years, c-MAF, MAFA, and MAFB have been identified as causative genes underpinning many rare diseases. Careful observation of human patients and animal models is important to examine the pathophysiological mechanisms underlying these conditions for targeted therapies. Murine models exhibit phenotypes similar to those of human patients with c-MAF, MAFA, and MAFB mutations. Therefore, generating these animal models emphasizes their usefulness for research uncovering the pathophysiology of point mutations in MAF transcription factors and the development of etiology-based therapies. Full article
(This article belongs to the Special Issue Animals Models in Diseases Genetics)
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22 pages, 1313 KiB  
Review
Role of Mitochondrial Dynamics in Heart Diseases
by Takeshi Tokuyama and Shigeru Yanagi
Genes 2023, 14(10), 1876; https://doi.org/10.3390/genes14101876 - 26 Sep 2023
Cited by 13 | Viewed by 3890
Abstract
Mitochondrial dynamics, including fission and fusion processes, are essential for heart health. Mitochondria, the powerhouses of cells, maintain their integrity through continuous cycles of biogenesis, fission, fusion, and degradation. Mitochondria are relatively immobile in the adult heart, but their morphological changes due to [...] Read more.
Mitochondrial dynamics, including fission and fusion processes, are essential for heart health. Mitochondria, the powerhouses of cells, maintain their integrity through continuous cycles of biogenesis, fission, fusion, and degradation. Mitochondria are relatively immobile in the adult heart, but their morphological changes due to mitochondrial morphology factors are critical for cellular functions such as energy production, organelle integrity, and stress response. Mitochondrial fusion proteins, particularly Mfn1/2 and Opa1, play multiple roles beyond their pro-fusion effects, such as endoplasmic reticulum tethering, mitophagy, cristae remodeling, and apoptosis regulation. On the other hand, the fission process, regulated by proteins such as Drp1, Fis1, Mff and MiD49/51, is essential to eliminate damaged mitochondria via mitophagy and to ensure proper cell division. In the cardiac system, dysregulation of mitochondrial dynamics has been shown to cause cardiac hypertrophy, heart failure, ischemia/reperfusion injury, and various cardiac diseases, including metabolic and inherited cardiomyopathies. In addition, mitochondrial dysfunction associated with oxidative stress has been implicated in atherosclerosis, hypertension and pulmonary hypertension. Therefore, understanding and regulating mitochondrial dynamics is a promising therapeutic tool in cardiac diseases. This review summarizes the role of mitochondrial morphology in heart diseases for each mitochondrial morphology regulatory gene, and their potential as therapeutic targets to heart diseases. Full article
(This article belongs to the Special Issue Animals Models in Diseases Genetics)
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15 pages, 2823 KiB  
Review
Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein
by Takuma Mori, Mengyun Zhou and Katsuhiko Tabuchi
Genes 2023, 14(8), 1656; https://doi.org/10.3390/genes14081656 - 20 Aug 2023
Cited by 5 | Viewed by 2550
Abstract
CASK-related disorders are a form of rare X-linked neurological diseases and most of the patients are females. They are characterized by several symptoms, including microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy, congenital nystagmus, and neurodevelopmental disorders. Whole-genome sequencing has identified various [...] Read more.
CASK-related disorders are a form of rare X-linked neurological diseases and most of the patients are females. They are characterized by several symptoms, including microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy, congenital nystagmus, and neurodevelopmental disorders. Whole-genome sequencing has identified various mutations, including nonsense and missense mutations, from patients with CASK-related disorders, revealing correlations between specific mutations and clinical phenotypes. Notably, missense mutations associated with epilepsy and intellectual disability were found throughout the whole region of the CASK protein, while missense mutations related to microcephaly and MICPCH were restricted in certain domains. To investigate the pathophysiology of CASK-related disorders, research groups have employed diverse methods, including the generation of CASK knockout mice and the supplementation of CASK to rescue the phenotypes. These approaches have yielded valuable insights into the identification of functional domains of the CASK protein associated with a specific phenotype. Additionally, recent advancements in the AI-based prediction of protein structure, such as AlphaFold2, and the application of genome-editing techniques to generate CASK mutant mice carrying missense mutations from patients with CASK-related disorders, allow us to understand the pathophysiology of CASK-related disorders in more depth and to develop novel therapeutic methods for the fundamental treatment of CASK-related disorders. Full article
(This article belongs to the Special Issue Animals Models in Diseases Genetics)
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