De novo copy number variations in cloned dogs from the same nuclear donor

BMC Genomics

Research Article

Seon-Hee Yim¹  Yeun-Jun Chung¹  Tae-Min Kim¹  Seung-Hyun Jung¹  Jin-Soo Kim²  Min Jung Kim³  Geon A Kim³  Hyun Ju Oh³  Byeong Chun Lee³  Jung Eun Park³ 

[1] Integrated Research Center for Genome Polymorphism, Department of Microbiology, The Catholic University of Korea, College of Medicine, 505 Banpo-dong, 137-701, Seocho-gu, Seoul, Korea;National Creative Initiatives Research Center for Genome Engineering and Department of Chemistry, Seoul National University, 151-742, Gwanak-gu, Seoul, Korea;Research Institute for Veterinary Science and Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, 1 Gwanak-ro, 151-742, Gwanak-gu, Seoul, Korea;

关键词: Cloned dog;    De novo copy number variation;    Mosaicism;    Loss of heterozygosity;    Somatic cell nuclear transfer;   

DOI  :  10.1186/1471-2164-14-863

 received in 2013-06-19, accepted in 2013-12-03,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundSomatic mosaicism of copy number variants (CNVs) in human body organs and de novo CNV event in monozygotic twins suggest that de novo CNVs can occur during mitotic recombination. These de novo CNV events are important for understanding genetic background of evolution and diverse phenotypes. In this study, we explored de novo CNV event in cloned dogs with identical genetic background.ResultsWe analyzed CNVs in seven cloned dogs using the nuclear donor genome as reference by array-CGH, and identified five de novo CNVs in two of the seven clones. Genomic qPCR, dye-swap array-CGH analysis and B-allele profile analysis were used for their validation. Two larger de novo CNVs (5.2 Mb and 338 Kb) on chromosomes X and 19 in clone-3 were consistently validated by all three experiments. The other three smaller CNVs (sized from 36.1 to76.4 Kb) on chromosomes 2, 15 and 32 in clone-3 and clone-6 were verified by at least one of the three validations. In addition to the de novo CNVs, we identified a 37 Mb-sized copy neutral de novo loss of heterozygosity event on chromosome 2 in clone-6.ConclusionsTo our knowledge, this is the first report of de novo CNVs in the cloned dogs which were generated by somatic cell nuclear transfer technology. To study de novo genetic events in cloned animals can help understand formation mechanisms of genetic variants and their biological implications.

【 授权许可】

Unknown   
© Jung et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.