Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development

Perl, Eliyahu; Ravisankar, Padmapriyadarshini; Beerens, Manu; Mulahasanovic, Lejla; Smallwood, Kelly; Sasso, Marion Bermúdez; Wenzel, Carina; Ryan, Thomas; Komar, M; Bove, Kevin E.; MacRae, Calum A.; Weaver, K. Nicole; Prada, Carlos E.; Waxman, Joshua S.

doi:10.1016/j.xhgg.2022.100115

Cited by 2 publications

(2 citation statements)

References 101 publications

(128 reference statements)

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“…Genome editing has been used to model human tumors such as liver cancer [70], paraganglioma [71], skin melanoma [72], and epithelioid sarcoma [73]. Among neurologic diseases, amyotrophic lateral sclerosis [74], epilepsy [75][76][77][78][79] [105,106], inner ear [107][108][109][110][111], vestibular apparatus [111], otoliths [112], brain [89, [113][114][115][116][117], neural tissue [118][119][120][121][122][123][124][125][126][127] and nervous system [128][129][130], heart [131][132][133][134][135][136][137][138][139], cardiomyocytes [140][141]…”

Section: Zebrafish As a Model Object In Studies Using Genome Editingmentioning

confidence: 99%

“…Much of the work has focused on the role of specific genes in organ formation and function, including the lens [ 99 ], retina [ 100 , 101 , 102 ], optic neurons [ 103 , 104 ], ocular vessels [ 105 , 106 ], inner ear [ 107 , 108 , 109 , 110 , 111 ], vestibular apparatus [ 111 ], otoliths [ 112 ], brain [ 89 , 113 , 114 , 115 , 116 , 117 ], neural tissue [ 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 ] and nervous system [ 128 , 129 , 130 ], heart [ 131 , 132 , 133 , 134 , 135 , 136 , 137 , 138 , 139 ], cardiomyocytes [ 140 , 141 , 142 , 143 ], including cardiovascular rate control [ 144 , 145 ], blood vessels [ 146 , 147 ,…”

Section: Genome Editing In Salmonidae and Cyprinidae Aquaculture Fish...mentioning

confidence: 99%

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In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

Orlova,

Ruzina,

Emelianova

et al. 2024

Genes

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Aquaculture supplies the world food market with a significant amount of valuable protein. Highly productive aquaculture fishes can be derived by utilizing genome-editing methods, and the main problem is to choose a target gene to obtain the desirable phenotype. This paper presents a review of the studies of genome editing for genes controlling body development, growth, pigmentation and sex determination in five key aquaculture Salmonidae and Cyprinidae species, such as rainbow trout (Onchorhynchus mykiss), Atlantic salmon (Salmo salar), common carp (Cyprinus carpio), goldfish (Carassius auratus), Gibel carp (Carassius gibelio) and the model fish zebrafish (Danio rerio). Among the genes studied, the most applicable for aquaculture are mstnba, pomc, and acvr2, the knockout of which leads to enhanced muscle growth; runx2b, mutants of which do not form bones in myoseptae; lepr, whose lack of function makes fish fast-growing; fads2, Δ6abc/5Mt, and Δ6bcMt, affecting the composition of fatty acids in fish meat; dnd mettl3, and wnt4a, mutants of which are sterile; and disease-susceptibility genes prmt7, gab3, gcJAM-A, and cxcr3.2. Schemes for obtaining common carp populations consisting of only large females are promising for use in aquaculture. The immobilized and uncolored zebrafish line is of interest for laboratory use.

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Section: Zebrafish As a Model Object In Studies Using Genome Editingmentioning

confidence: 99%

Section: Genome Editing In Salmonidae and Cyprinidae Aquaculture Fish...mentioning

confidence: 99%

In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

Orlova,

Ruzina,

Emelianova

et al. 2024

Genes

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Syntaxin 4 is essential for hearing in human and zebrafish

Schrauwen

Ghaffar

Bharadwaj

et al. 2022

Human Molecular Genetics

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Congenital hearing impairment is a genetically highly heterogenous disorder in which prompt recognition and intervention are crucial to optimize outcomes. In this study, we used exome sequencing to investigate a large consanguineous Pakistani family with eight affected individuals showing bilateral severe-to-profound hearing impairment. This identified a homozygous splice region variant in STX4 (c.232 + 6 T > C), which causes exon skipping and a frameshift, that segregated with hearing impairment (two-point LOD score = 5.9). STX4, a member of the syntaxin family, is a component of the SNARE machinery involved in several vesicle transport and recycling pathways. In silico analysis showed that murine orthologue Stx4a is highly and widespread expressed in the developing and adult inner ear. Immunofluorescent imaging revealed localization of STX4A in the cell body, cell membrane and stereocilia of inner and outer hair cells. Furthermore, a morpholino based knockdown of stx4 in zebrafish showed an abnormal startle response, morphological and developmental defects, and a disrupted mechanotransduction function in neuromast hair cells measured via FM1–43 uptake. Our findings indicate that STX4 dysfunction leads to hearing impairment in humans and zebrafish and supports the evolutionary conserved role of STX4 in inner ear development and hair cell functioning.

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Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development

Cited by 2 publications

References 101 publications

In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

Syntaxin 4 is essential for hearing in human and zebrafish

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