2024-03-28T10:50:52Z
https://nagoya.repo.nii.ac.jp/oai
oai:nagoya.repo.nii.ac.jp:00024937
2023-01-16T04:14:14Z
643:666:667
Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability
Fukuda, Kei
Inoguchi, Yukihiro
Ichiyanagi, Kenji
Ichiyanagi, Tomoko
Go, Yasuhiro
Nagano, Masashi
Yanagawa, Yojiro
Takaesu, Noboru
Ohkawa, Yasuyuki
Imai, Hiroo
Sasaki, Hiroyuki
open access
This is a pre-copyedited, author-produced version of an article accepted for publication in [Human Molecular Genetics] following peer review. The version of record [Human Molecular Genetics. v.26, n.18, 2017, p.3508-3519] is available online at: https://doi.org/10.1093/hmg/ddx236.
genome
methylation
oxymetholone
pan troglodytes
primates
sperm cell
Changes in gene expression resulting from epigenetic and/or genetic changes play an important role in the evolutionary divergence of phenotypes. To explore how epigenetic and genetic changes are linked during primate evolution, we have compared the genome-wide DNA methylation profiles (methylomes) of humans and chimpanzees, which have a 1.2% DNA sequence divergence, of sperm, the frontal cortices, B cells, and neutrophils. We revealed that species-specific differentially methylated regions (S-DMRs), ranging from several hundred base pairs (bp) to several kilo base pairs (kb), were frequently associated with sequence changes in transcription factor-binding sites and insertions of Alu and SVA retrotransposons. We then generated a reference macaque sperm methylome map and revealed, in sperm, that both human and chimpanzee S-DMRs arose more frequently owing to methylation loss rather than gain. Moreover, we observed that the sperm methylomes contained many more hypomethylated domains (HMDs), ranging from 20 to 500 kb, than did the somatic methylomes. Interestingly, the sperm HMDs changed rapidly during primate evolution; hundreds of sperm HMDs were specific to humans, whereas most somatic HMDs were highly conserved between humans and chimpanzees. Notably, these human-specific sperm HMDs frequently occurred in regions exhibiting copy number variations. Our findings indicate that primate evolution, particularly in the germline, is significantly impacted by reciprocal changes in the genome and epigenome.
Oxford University Press
2017-09-15
eng
journal article
AM
http://hdl.handle.net/2237/27159
https://nagoya.repo.nii.ac.jp/records/24937
https://doi.org/10.1093/hmg/ddx236
0964-6906
Human Molecular Genetics
26
18
3508
3519
https://nagoya.repo.nii.ac.jp/record/24937/files/Fukuda_HumMolGenet_2017.pdf
application/pdf
2.2 MB
2018-09-15