Large-scale genomic deletions mediated by CRISPR/Cas9 system
نویسندگان
چکیده
منابع مشابه
Large-scale genomic deletions mediated by CRISPR/Cas9 system
Owing to its simplicity of manipulation and high efficiency, the CRISPR/Cas9 technology has already been achieved as a robust genome engineering tool for generating gene mutations, multiple-gene knockout and knock-in in various species. However, tissues and genomic mosaicism have been widely reported in the gentically modified animals generated from zygotes that were coinjected with Cas9 mRNA a...
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BACKGROUND The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD The DNA of patients was analyzed in a diagnostic setting. RESULTS We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in ...
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Recombination between Alu elements results in genomic deletions associated with many human genetic disorders. Here, we compare the reference human and chimpanzee genomes to determine the magnitude of this recombination process in the human lineage since the human-chimpanzee divergence approximately 6 million years ago. Combining computational data mining and wet-bench experimental verification,...
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Episodic ataxia (EA) syndromes are heritable diseases characterized by dramatic episodes of imbalance and incoordination. EA type 2 (EA2), the most common and the best characterized subtype, is caused by mostly nonsense, splice site, small indel, and sometimes missense mutations in CACNA1A. Direct sequencing of CACNA1A fails to identify mutations in some patients with EA2-like features, possibl...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2017
ISSN: 1949-2553
DOI: 10.18632/oncotarget.14543