PMID- 37639389 OWN - NLM STAT- MEDLINE DCOM- 20230831 LR - 20230904 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 18 IP - 8 DP - 2023 TI - Bioinformatic and fine-scale chromosomal mapping reveal the nature and evolution of eliminated chromosomes in the Japanese hagfish, Eptatretus burgeri, through analysis of repetitive DNA families. PG - e0286941 LID - 10.1371/journal.pone.0286941 [doi] LID - e0286941 AB - In the Japanese hagfish, Eptatretus burgeri, approximately 21% of the genomic DNA in germ cells (2n = 52) consists of 16 chromosomes (eliminated [E]-chromosomes) that are eliminated from presumptive somatic cells (2n = 36). To uncover the eliminated genome (E-genome), we have identified 16 eliminated repetitive DNA families from eight hagfish species, with 11 of these repeats being selectively amplified in the germline genome of E. burgeri. Furthermore, we have demonstrated that six of these sequences, namely EEEb1-6, are exclusively localized on all 16 E-chromosomes. This has led to the hypothesis that the eight pairs of E-chromosomes are derived from one pair of ancestral chromosomes via multiple duplication events over a prolonged evolutionary period. NGS analysis has recently facilitated the re-assembly of two distinct draft genomes of E. burgeri, derived from the testis and liver. This advancement allows for the prediction of not only nonrepetitive eliminated sequences but also over 100 repetitive and eliminated sequences, accomplished through K-mer-based analysis. In this study, we report four novel eliminated repetitive DNA sequences (designated as EEEb7-10) and confirm the relative chromosomal localization of all eliminated repeats (EEEb1-10) by fluorescence in situ hybridization (FISH). With the exception of EEEb10, all sequences were exclusively detected on EEEb1-positive chromosomes. Surprisingly, EEEb10 was detected as an intense signal on EEEb1-positive chromosomes and as a scattered signal on other chromosomes in germ cells. The study further divided the eight pairs of E-chromosomes into six groups based on the signal distribution of each DNA family, and fiber-FISH experiments showed that the EEEb2-10 family was dispersed in the EEEb1-positive extended chromatin fiber. These findings provide new insights into the mechanisms underlying chromosome elimination and the evolution of E-chromosomes, supporting our previous hypothesis. CI - Copyright: (c) 2023 Nagao et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. FAU - Nagao, Kohei AU - Nagao K AD - Department of Biology, Faculty of Science, Toho University, Funabashi, Chiba, Japan. FAU - Tanaka, Yoshiki AU - Tanaka Y AD - Department of Life Science and Technology, School of Life Science and Technology, Tokyo Institute of Technology, Meguro-ku, Tokyo, Japan. FAU - Kajitani, Rei AU - Kajitani R AD - Department of Life Science and Technology, School of Life Science and Technology, Tokyo Institute of Technology, Meguro-ku, Tokyo, Japan. FAU - Toyoda, Atsushi AU - Toyoda A AUID- ORCID: 0000-0002-0728-7548 AD - Advanced Genomics Center, National Institute of Genetics, Mishima, Shizuoka, Japan. AD - Comparative Genomics Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan. FAU - Itoh, Takehiko AU - Itoh T AD - Department of Life Science and Technology, School of Life Science and Technology, Tokyo Institute of Technology, Meguro-ku, Tokyo, Japan. FAU - Kubota, Souichirou AU - Kubota S AD - Department of Biology, Faculty of Science, Toho University, Funabashi, Chiba, Japan. FAU - Goto, Yuji AU - Goto Y AUID- ORCID: 0009-0008-2636-4335 AD - Department of Biology, Faculty of Science, Toho University, Funabashi, Chiba, Japan. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20230828 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - 9007-49-2 (DNA) RN - 0 (Euchromatin) SB - IM MH - Animals MH - Male MH - Computational Biology MH - DNA MH - Euchromatin MH - *Hagfishes/genetics MH - In Situ Hybridization, Fluorescence PMC - PMC10461843 COIS- The authors have declared that no competing interests exist. EDAT- 2023/08/28 18:41 MHDA- 2023/08/31 06:41 PMCR- 2023/08/28 CRDT- 2023/08/28 13:32 PHST- 2023/05/26 00:00 [received] PHST- 2023/08/14 00:00 [accepted] PHST- 2023/08/31 06:41 [medline] PHST- 2023/08/28 18:41 [pubmed] PHST- 2023/08/28 13:32 [entrez] PHST- 2023/08/28 00:00 [pmc-release] AID - PONE-D-23-16202 [pii] AID - 10.1371/journal.pone.0286941 [doi] PST - epublish SO - PLoS One. 2023 Aug 28;18(8):e0286941. doi: 10.1371/journal.pone.0286941. eCollection 2023.