Biotechnology: At the heart of gene edits in human embryos

Published on Aug 1, 2017in Nature 41.58
· DOI :10.1038/nature23533
Nerges Winblad1
Estimated H-index: 1
,
Fredrik Lanner19
Estimated H-index: 19
Abstract
The gene-editing technology CRISPR–Cas has been used in human embryos grown in vitro to correct a disease-associated mutation. The introduction of editing components at fertilization aided repair efficiency. See Article p.413
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References9
Published on Dec 1, 2015in Gene 2.50
Lucie Carrier42
Estimated H-index: 42
(University of Hamburg),
Giulia Mearini15
Estimated H-index: 15
(University of Hamburg)
+ 1 AuthorsFriederike Cuello6
Estimated H-index: 6
(University of Hamburg)
Abstract More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in card...
41 Citations Source Cite
Published on Aug 17, 2012in Science 41.06
Martin Jinek25
Estimated H-index: 25
(University of California, Berkeley),
Krzysztof Chylinski6
Estimated H-index: 6
(Umeå University)
+ 3 AuthorsEmmanuelle Charpentier28
Estimated H-index: 28
(Umeå University)
Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) systems provide bacteria and archaea with adaptive immunity against viruses and plasmids by using CRISPR RNAs (crRNAs) to guide the silencing of invading nucleic acids. We show here that in a subset of these systems, the mature crRNA that is base-paired to trans-activating crRNA (tracrRNA) forms a two-RNA structure that directs the CRISPR-associated protein Cas9 to introduce double-stranded (ds) breaks in ...
4,633 Citations Source Cite
Published on Feb 15, 2013in Science 41.06
Le Cong15
Estimated H-index: 15
(Massachusetts Institute of Technology),
F. Ann Ran10
Estimated H-index: 10
(Massachusetts Institute of Technology)
+ 8 AuthorsLuciano A. Marraffini33
Estimated H-index: 33
(Rockefeller University)
Functional elucidation of causal genetic variants and elements requires precise genome editing technologies. The type II prokaryotic CRISPR (clustered regularly interspaced short palindromic repeats)/Cas adaptive immune system has been shown to facilitate RNA-guided site-specific DNA cleavage. We engineered two different type II CRISPR/Cas systems and demonstrate that Cas9 nucleases can be directed by short RNAs to induce precise cleavage at endogenous genomic loci in human and mouse cells. Cas9...
5,898 Citations Source Cite
Published on Mar 13, 2002in JAMA 47.66
Barry J. Maron148
Estimated H-index: 148
ContextThroughout the past 40 years, a vast and sometimes contradictory literature has accumulated regarding hypertrophic cardiomyopathy (HCM), a genetic cardiac disease caused by a variety of mutations in genes encoding sarcomeric proteins and characterized by a broad and expanding clinical spectrum.ObjectivesTo clarify and summarize the relevant clinical issues and to profile rapidly evolving concepts regarding HCM.Data SourcesSystematic analysis of the relevant HCM literature, accessed throug...
1,742 Citations Source Cite
Published on May 1, 2015in Protein & Cell 6.23
Puping Liang6
Estimated H-index: 6
(Sun Yat-sen University),
Y. Xu5
Estimated H-index: 5
(Sun Yat-sen University)
+ 13 AuthorsYujing Li5
Estimated H-index: 5
(Sun Yat-sen University)
Genome editing tools such as the clustered regularly interspaced short palindromic repeat (CRISPR)-associated system (Cas) have been widely used to modify genes in model systems including animal zygotes and human cells, and hold tremendous promise for both basic research and clinical applications. To date, a serious knowledge gap remains in our understanding of DNA repair mechanisms in human early embryos, and in the efficiency and potential off-target effects of using technologies such as CRISP...
417 Citations Source Cite
Published on Dec 15, 2014in eLife 7.62
Steven Lin23
Estimated H-index: 23
(University of California, Berkeley),
Brett T. Staahl13
Estimated H-index: 13
(University of California, Berkeley)
+ 1 AuthorsJennifer A. Doudna90
Estimated H-index: 90
The CRISPR/Cas9 system is a robust genome editing technology that works in human cells, animals and plants based on the RNA-programmed DNA cleaving activity of the Cas9 enzyme. Building on previous work (Jinek et al., 2013), we show here that new genetic information can be introduced site-specifically and with high efficiency by homology-directed repair (HDR) of Cas9-induced site-specific double-strand DNA breaks using timed delivery of Cas9-guide RNA ribonucleoprotein (RNP) complexes. Cas9 RNP-...
336 Citations Source Cite
Published on May 1, 2016in Journal of Assisted Reproduction and Genetics 2.79
Xiangjin Kang6
Estimated H-index: 6
(Guangzhou Medical University),
Wenyin He7
Estimated H-index: 7
(Guangzhou Medical University)
+ 5 AuthorsYong Fan11
Estimated H-index: 11
(Guangzhou Medical University)
Purpose As a powerful technology for genome engineering, the CRISPR/Cas system has been successfully applied to modify the genomes of various species. The purpose of this study was to evaluate the technology and establish principles for the introduction of precise genetic modifications in early human embryos.
108 Citations Source Cite
Published on Jun 1, 2017in Molecular Genetics and Genomics 2.73
Lichun Tang1
Estimated H-index: 1
(Protein Sciences),
Yanting Zeng1
Estimated H-index: 1
(Guangzhou Medical University)
+ 8 AuthorsXiaowei Li1
Estimated H-index: 1
(Nanjing University)
Previous works using human tripronuclear zygotes suggested that the clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system could be a tool in correcting disease-causing mutations. However, whether this system was applicable in normal human (dual pronuclear, 2PN) zygotes was unclear. Here we demonstrate that CRISPR/Cas9 is also effective as a gene-editing tool in human 2PN zygotes. By injection of Cas9 protein complexed with the appropriate sgRNAs and homology donors into o...
74 Citations Source Cite
Published on Aug 1, 2017in Nature 41.58
Hong Ma27
Estimated H-index: 27
(Oregon National Primate Research Center),
Nuria Marti-Gutierrez1
Estimated H-index: 1
(Oregon Health & Science University)
+ 28 AuthorsRiffat Ahmed10
Estimated H-index: 10
(Oregon Health & Science University)
Genome editing could be applied to correct disease-causing mutations in human embryos, but concerns about efficacy and safety are paramount. Shoukhrat Mitalipov and colleagues use CRISPRCas9 to correct a heritable cardiomyopathy mutation in human embryos. By optimizing the experimental conditions, the authors show very reduced mosaicism, and report that for this heterozygous mutation, CRISPRCas9-induced breaks seem to be preferentially repaired using the wild-type allele as a template in human e...
238 Citations Source Cite
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Cited By2
Published on Aug 21, 2018in Congenital Anomalies 1.15
Hideyo Ohuchi40
Estimated H-index: 40
(Okayama University),
Keita Sato6
Estimated H-index: 6
(Okayama University)
+ 2 AuthorsTetsuya Bando11
Estimated H-index: 11
(Okayama University)
1 Citations Source Cite
Published on Feb 1, 2019in American Biology Teacher 0.27
María José Apodaca1
Estimated H-index: 1
(National University of La Plata),
Joseph D. McInerney2
Estimated H-index: 2
(American Society of Human Genetics)
+ 2 AuthorsJorge V. Crisci21
Estimated H-index: 21
(National University of La Plata)
Is it possible to teach biology without mentioning evolution? The answer is yes, but it is not possible for students to understand biology without the evolutionary context on which the meaning and intellectual value of biological concepts depend. Meaningful learning of evolution requires (1) that the students incorporate new knowledge into a cognitive structure linked with higher-order concepts; (2) a well-organized knowledge structure; and (3) a positive emotional attachment and identification ...
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