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Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism

  • Peng Lu (a1), Pengyun Wang (a2), Lianbing Li (a3), Chengqi Xu (a4), Jing Crystal Liu (a5), Xiangqian Guo (a6), Dawei He (a1), Huizhe Huang (a5) and Zhi Cheng (a5)...

Abstract

Cryptorchidism represents one of the most common human congenital anomalies. In most cases, its etiology remains unclear and seems to be multifactorial. In the present study, a pair of monozygotic twins discordant for cryptorchidism was identified. Twin zygosity was confirmed by microsatellite genotyping. Whole exome sequencing and methylated DNA immunoprecipitation sequencing (MeDIP-Seq) of DNA extract from leucocytes were performed to, respectively, evaluate their exomes and epigenomes. No differences in exome sequencing data were found between the twins after validation. MeDIP-Seq analysis detected 5,410 differentially hypermethylated genes and 2,383 differentially hypomethylated genes. Bioinformatic analysis showed that these genes belonged to several biological processes and signaling pathways, including regulation of actin cytoskeleton, which has been previously implicated in the etiology of cryptorchidism. The findings of the present study suggest that non-genetic factors might contribute to the pathogenesis of cryptorchidism.

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Copyright

Corresponding author

address for correspondence: Zhi Cheng, School of Basic Medical Sciences, Chongqing Medical University, NO.1 Yixueyuan Road, Yuzhong District, Chongqing 400016, PR China. E-mail: zcheng@cqmu.edu.cn

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These authors contributed equally to the work.

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References

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Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism

  • Peng Lu (a1), Pengyun Wang (a2), Lianbing Li (a3), Chengqi Xu (a4), Jing Crystal Liu (a5), Xiangqian Guo (a6), Dawei He (a1), Huizhe Huang (a5) and Zhi Cheng (a5)...

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