CRISPR-Cas systems: ushering in the new genome editing era

Rojo, Fernando Perez; Nyman, Rikard Karl Martin; Johnson, Alexander; Navarro, Maria Pazos; Ryan, Megan H.; Erskine, William; Kaur, Parwinder

doi:10.1080/21655979.2018.1470720

Cited by 35 publications

(12 citation statements)

References 40 publications

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“…1 Einnig hefur möguleiki á að geta haft áhrif á samsetningu erfðamengisins með líftaekni orðið að veruleika. 2 Samhliða hefur túlkun erfðaupplýsinga orðið sífellt flóknari. 1 Erfðaráðgjöf hefur verið hluti af heilbrigðisþjónustu allt frá miðri seinustu öld.…”

Section: Inngangurunclassified

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Increased use of genetic health care in Iceland 2012-2017

Hognason¹,

Thorolfsdottir²,

Jónsson³

et al. 2022

LBL

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INTRODUCTION: A genetic counselling unit at Landspitali hospital (LSH) was established in 2006. Meanwhile, genetic testing has become an integral part of general health care. In this article we detail the outcome of genetic testing at the Department of Genetic and Molecular Medicine (DGM) at Landspitali over a five year period (2012-2017). Factors that were analyzed for the time period were: Number of patients, reason for referral, reason for genetic testing without genetic counselling and yield (proportion of positive tests) of genetic testing. METHODS: Data was analysed from two medical record databases, Shire and Saga, used by the DGM in the time period. RESULTS: The number of individuals coming for genetic counselling increased every year over the time period. Reasons for referral were cancer-related in two-thirds of cases. Other reasons for referral included various other familial disorders. Most common were autosomal dominant disorders like myotonic dystrophy, hypertrophic cardiomyopathy and autosomal recessive disorders like spinal muscular atrophy (SMA) and GM1-gangliosidosis. Most common reasons for genetic testing outside of the LSH GC unit was because of managable diseases like hemochromatosis and F5/Prothrombin-related thrombophilia. Yield of genetic testing was assessed for a) known mutation testing / carrier testing, b) single gene testing, c) gene panel testing and d) whole genome and whole exome sequencing. Known mutation testing was positive in 33% of cases and single gene testing in 46% of cases. The yield of gene panel testing for cancer was found to be lower (20%) than gene panel testing for other disorders (40%). The yield of whole exome and whole genome sequencing was 46%.

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Section: Inngangurunclassified

“…Hákon Björn Högnason 1 Vigdís Fjóla Stefánsdóttir 1 Eirný Þöll Þórólfsdóttir 1 Jón Jóhannes Jónsson 1,2 Hans Tómas Björnsson 1,2,3 RESULTS: The number of individuals coming for genetic counselling increased every year over the time period. Reasons for referral were cancer-related in two-thirds of cases.…”

Section: E N G L I S H S U M M a R Ymentioning

confidence: 99%

Increased use of genetic health care in Iceland 2012-2017

Hognason¹,

Thorolfsdottir²,

Jónsson³

et al. 2022

LBL

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“…Considering all the solutions available to breeders to improve pastures cultivars from a molecular perspective, in vitro culture and Agrobacterium transformation, in combination with other technologies such as genome-wide association studies [26] and CRISPR [27], play a central role in the association of genes with agronomic traits. In this regard, analysing genes associated with biotic and abiotic stresses can unleash the power of plant adaptation, creating better pastures adapted to a range of different environmental conditions.…”

Section: Cefotaxime Positive Effect On Shoot Regenerationmentioning

confidence: 99%

An Improved Protocol for Agrobacterium-Mediated Transformation in Subterranean Clover (Trifolium subterraneum L.)

Rojo

Seth

Erskine

et al. 2021

IJMS

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Subterranean clover (Trifolium subterraneum) is the most widely grown annual pasture legume in southern Australia. With the advent of advanced sequencing and genome editing technologies, a simple and efficient gene transfer protocol mediated by Agrobacterium tumefaciens was developed to overcome the hurdle of genetic manipulation in subterranean clover. In vitro tissue culture and Agrobacterium transformation play a central role in testing the link between specific genes and agronomic traits. In this paper, we investigate a variety of factors affecting the transformation in subterranean clover to increase the transformation efficiency. In vitro culture was optimised by including cefotaxime during seed sterilisation and testing the best antibiotic concentration to select recombinant explants. The concentrations for the combination of antibiotics obtained were as follows: 40 mg L−1 hygromycin, 100 mg L−1 kanamycin and 200 mg L−1 cefotaxime. Additionally, 200 mg L−1 cefotaxime increased shoot regeneration by two-fold. Different plant hormone combinations were tested to analyse the best rooting media. Roots were obtained in a medium supplemented with 1.2 µM IAA. Plasmid pH35 containing a hygromycin-resistant gene and GUS gene was inoculated into the explants with Agrobacterium tumefaciens strain AGL0 for transformation. Overall, the transformation efficiency was improved from the 1% previously reported to 5.2%, tested at explant level with Cefotaxime showing a positive effect on shooting regeneration. Other variables in addition to antibiotic and hormone combinations such as bacterial OD, time of infection and incubation temperature may be further tested to enhance the transformation even more. This improved transformation study presents an opportunity to increase the feeding value, persistence, and nutritive value of the key Australian pasture.

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“…Together these studies suggest that an RNA‐mediated silencing pathway is normally involved to prevent DUX4 transcription, making this pathway an interesting potential therapeutic target. Himeda et al demonstrated the benefits of the use of CRISPR and dCas9 (catalytically dead Cas9) protein system (CRISPR‐dCas9) to reverse the epigenetic status of the FSHD locus . Targeting the transcriptional inhibitor KRAB to the DUX4 promoter through fusion with dCas9 repressed DUX4 and its downstream target genes in FSHD muscle cell cultures.…”

Section: Novel Potential Therapeutic Targetsmentioning

confidence: 99%

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

et al. 2020

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Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of chromosome 4q to a size of 1 to 10 repeat units (FSHD1) or by mutations in D4Z4 chromatin modifiers such as Structural Maintenance of Chromosomes Hinge Domain Containing 1 (FSHD2). These two genotypes share a phenotype characterized by progressive and often asymmetric muscle weakening and atrophy, and common epigenetic alterations of the D4Z4 repeat. All together, these epigenetic changes converge the two genetic forms into one disease and explain the derepression of the DUX4 gene, which is otherwise kept epigenetically silent in skeletal muscle. DUX4 is consistently transcriptionally upregulated in FSHD1 and FSHD2 skeletal muscle cells where it is believed to exercise a toxic effect. Here we provide a review of the recent literature describing the progress in understanding the complex genetic and epigenetic architecture of FSHD, with a focus on one of the consequences that these epigenetic changes inflict, the DUX4-induced immune deregulation cascade. Moreover, we review the latest therapeutic strategies, with particular attention to the potential of epigenetic correction of the FSHD locus. K E Y W O R D S

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CRISPR-Cas systems: ushering in the new genome editing era

Cited by 35 publications

References 40 publications

Increased use of genetic health care in Iceland 2012-2017

Increased use of genetic health care in Iceland 2012-2017

An Improved Protocol for Agrobacterium-Mediated Transformation in Subterranean Clover (Trifolium subterraneum L.)

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

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