title: Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer.
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.
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Young June
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Kwang Sung
authors.initials: KS
authors.lastname: Ahn
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Minjeong
authors.initials: M
authors.lastname: Kim
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Min Ju
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Sang-Min
authors.initials: SM
authors.lastname: Park
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Junghyun
authors.initials: J
authors.lastname: Ryu
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Jin Seop
authors.initials: JS
authors.lastname: Ahn
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Soon Young
authors.initials: SY
authors.lastname: Heo
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: Jee Hyun
authors.initials: JH
authors.lastname: Kang
authors.affiliation: Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan, Republic of Korea.
authors.forename: You Jung
authors.initials: YJ
authors.lastname: Choi
authors.affiliation: Institute of Tissue Regeneration Engineering, Dankook University, Cheonan, Republic of Korea.
authors.forename: Seong-Jun
authors.initials: SJ
authors.lastname: Choi
authors.affiliation: 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.
authors.forename: Hosup
authors.initials: H
authors.lastname: Shim
mesh_terms: D000818:Animals; D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D018390:Gene Targeting / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D053652:Nuclear Transfer Techniques; D013552:Swine; D013556:Swine, Miniature / Q000235:genetics*
chemical_list: D064007:Ataxia Telangiectasia Mutated Proteins
keywords: Ataxia telangiectasia mutated; Gene targeting; Miniature pigs; Somatic cell nuclear transfer