Analysis of a four generation family reveals the widespread sequence-dependent maintenance of allelic DNA methylation in somatic and germ cells

• Published in: Scientific reports Vol. 6; no. 1; p. 19260
• Main Authors: Tang, Aifa, Huang, Yi, Li, Zesong, Wan, Shengqing, Mou, Lisha, Yin, Guangliang, Li, Ning, Xie, Jun, Xia, Yudong, Li, Xianxin, Luo, Liya, Zhang, Junwen, Chen, Shen, Wu, Song, Sun, Jihua, Sun, Xiaojuan, Jiang, Zhimao, Chen, Jing, Li, Yingrui, Wang, Jian, Wang, Jun, Cai, Zhiming, Gui, Yaoting
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 13.01.2016; Nature Publishing Group
• Subjects: 45/70; 49/23; 692/420/2489/144; 692/699/2768; Alleles; Chromosomes; Cluster Analysis; Computational Biology - methods; Deoxyribonucleic acid; DNA; DNA Methylation; Epigenesis, Genetic; Family; Genetic diversity; Genetic Loci; Genomic imprinting; Genotype; Germ cells; Germ Cells - metabolism; High-Throughput Nucleotide Sequencing; Humanities and Social Sciences; Humans; Male; Molecular Sequence Annotation; multidisciplinary; Nucleotide sequence; Pedigree; Polymorphism, Single Nucleotide; Reproducibility of Results; Science; Spermatogenesis; Spermatozoa - metabolism; X Chromosome Inactivation - genetics; X chromosomes; X-chromosome inactivation
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/srep19260

Differential methylation of the homologous chromosomes, a well-known mechanism leading to genomic imprinting and X-chromosome inactivation, is widely reported at the non-imprinted regions on autosomes. To evaluate the transgenerational DNA methylation patterns in human, we analyzed the DNA methylomes of somatic and germ cells in a four-generation family. We found that allelic asymmetry of DNA methylation was pervasive at the non-imprinted loci and was likely regulated by cis -acting genetic variants. We also observed that the allelic methylation patterns for the vast majority of the cis -regulated loci were shared between the somatic and germ cells from the same individual. These results demonstrated the interaction between genetic and epigenetic variations and suggested the possibility of widespread sequence-dependent transmission of DNA methylation during spermatogenesis.