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Biochem Biophys Res Commun. 2014 Oct 3;452(4):901-5. doi: 10.1016/j.bbrc.2014.08.125. Epub 2014 Sep 1.

Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer.

Author information

1
Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
2
Institute of Tissue Regeneration Engineering, Dankook University, Cheonan, Republic of Korea.
3
Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea; Institute of Tissue Regeneration Engineering, Dankook University, Cheonan, Republic of Korea; Department of Physiology, Dankook University School of Medicine, Cheonan, Republic of Korea. Electronic address: shim@dku.edu.

Abstract

Ataxia telangiectasia (A-T) is a recessive autosomal disorder associated with pleiotropic phenotypes, including progressive cerebellar degeneration, gonad atrophy, and growth retardation. Even though A-T is known to be caused by the mutations in the Ataxia telangiectasia mutated (ATM) gene, the correlation between abnormal cellular physiology caused by ATM mutations and the multiple symptoms of A-T disease has not been clearly determined. None of the existing ATM mouse models properly reflects the extent to which neurological degeneration occurs in human. In an attempt to provide a large animal model for A-T, we produced gene-targeted pigs with mutations in the ATM gene by somatic cell nuclear transfer. The disrupted allele in the ATM gene of cloned piglets was confirmed via PCR and Southern blot analysis. The ATM gene-targeted pigs generated in the present study may provide an alternative to the current mouse model for the study of mechanisms underlying A-T disorder and for the development of new therapies.

KEYWORDS:

Ataxia telangiectasia mutated; Gene targeting; Miniature pigs; Somatic cell nuclear transfer

PMID:
25193705
DOI:
10.1016/j.bbrc.2014.08.125
[Indexed for MEDLINE]

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