Earticle

초록

영어

Fukutin is a putative glycosyltransferase protein that is involved in the glycosylation of α-dystroglycan, and highly expressed in skeletal muscle, heart and brain. Therefore, the protein could play an important role in muscle and brain development. Mutations in this gene have been reported as a cause of Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). However, the biological functions of this protein and molecular mechanisms of these genetic diseases remain elusive. To serve disease models for functional study, we disrupted the fukutin gene using a transcription activator like effector nuclease (TALEN) that is an artificial restriction enzyme composed of DNA binding domain and Fok I nuclease. TALENs induce site-specific DNA double-strand breaks (DSBs) in the genome, whose repair via error-pron non-homologous end-joining gives rise to targeted mutations. We used a surrogate reporter to enrich cells that contain TALEN-induced mutations in HeLa cells and isolated gene knockout clones. We propose that engineered TALENs are powerful tools for functional studies of glycosylation in cell lines.

저자

• Gabbine Wee [ Department of Chemistry, Seoul National University ]
• Yongsub Kim [ Department of Chemistry, Seoul National University ]
• Hyojin Kim [ Department of Chemistry, Seoul National University ]
• Choong-il Lee [ Department of Chemistry, Seoul National University ]
• Jin-Soo Kim [ Department of Chemistry, Seoul National University ]

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간행물

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• 간행물명

  한국당과학회 학술대회

• 간기

  연간

• 수록기간

  2006~2022

• 십진분류

  KDC 517 DDC 614