Publications by authors named "A Mabuchi"

Background: Recent advances in CRISPR technology have enabled us to perform gene knock-in in various species and cell lines. CRISPR-mediated knock-in requires donor DNA which serves as a template for homology-directed repair (HDR). For knock-in of short sequences or base substitutions, ssDNA donors are frequently used among various other forms of HDR donors, such as linear dsDNA.

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Since the arrest of the Golden State Killer in the US in April 2018, forensic geneticists have been increasingly interested in the investigative genetic genealogy (IGG) method. While this method has already been in practical use as a powerful tool for criminal investigation, we have yet to know well the limitations and potential risks. In this current study, we performed an evaluation study focusing on degraded DNA using the Affymetrix Genome-Wide Human SNP Array 6.

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Article Synopsis
  • Researchers studied genetic factors linked to lumbar spondylosis by comparing 83 severe cases with 182 healthy controls, discovering 65 candidate single nucleotide polymorphisms (SNPs).
  • A significant SNP, rs2054564, found in the ADAMTS17 gene, was confirmed in larger Japanese and Korean cohorts, indicating its potential impact on disease risk.
  • The study also highlighted the role of ADAMTS17 and fibrillin-1 (FBN1) in intervertebral discs, suggesting that disruptions in their interaction may contribute to lumbar spondylosis, with evidence from patients with Marfan syndrome further supporting this link.
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The advance of CRISPR/Cas9 technology has enabled us easily to generate gene knockout cell lines by introducing insertion-deletion mutations (indels) at the target site via the error-prone non-homologous end joining repair system. Frameshift-promoting indels can disrupt gene functions by generation of a premature stop codon. However, there is growing evidence that targeted genes are not always knocked out by the indel-based gene disruption.

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Instead of traditional short tandem repeat (STR) profiling, the genetic genealogy method, which uses hundreds of thousands of single nucleotide polymorphisms (SNPs) spread across genome-wide, has emerged as a powerful kinship determination tool and recently attracted great attention in forensic genetics. In this study, we explored the tolerance and viability of kinship discrimination based on a high-density SNP profile for forensic DNA, especially focusing on low-quantity DNA. Using the Affymetrix Genome-Wide Human SNP Array 6.

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