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Open Access Highly Accessed Research article

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

Seung-Hyun Jung1, Seon-Hee Yim1, Hyun Ju Oh2, Jung Eun Park2, Min Jung Kim2, Geon A Kim2, Tae-Min Kim1, Jin-Soo Kim3, Byeong Chun Lee2* and Yeun-Jun Chung1*

Author Affiliations

1 Integrated Research Center for Genome Polymorphism, Department of Microbiology, The Catholic University of Korea, College of Medicine, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea

2 Research Institute for Veterinary Science and Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, 1 Gwanak-ro, Gwanak-gu, Seoul 151-742, Korea

3 National Creative Initiatives Research Center for Genome Engineering and Department of Chemistry, Seoul National University, Gwanak-gu, Seoul 151-742, Korea

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BMC Genomics 2013, 14:863  doi:10.1186/1471-2164-14-863

Published: 9 December 2013

Abstract

Background

Somatic 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.

Results

We 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.

Conclusions

To 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.

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