Haplotype-resolved genome assembly and resequencing analysis provide insights into genome evolution and allelic imbalance in <i>Pinus densiflora</i>
  • Jang, Min-Jeong
  • Cho, Hye Jeong
  • Park, Young-Soo
  • Lee, Hye-Young
  • Bae, Eun-Kyung
  • 외 21명
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초록

Haplotype-level allelic characterization facilitates research on the functional, evolutionary and breeding-related features of extremely large and complex plant genomes. We report a 21.7-Gb chromosome-level haplotype-resolved assembly in Pinus densiflora. We found genome rearrangements involving translocations and inversions between chromosomes 1 and 3 of Pinus species and a proliferation of specific long terminal repeat (LTR) retrotransposons (LTR-RTs) in P. densiflora. Evolutionary analyses illustrated that tandem and LTR-RT-mediated duplications led to an increment of transcription factor (TF) genes in P. densiflora. The haplotype sequence comparison showed allelic imbalances, including presence-absence variations of genes (PAV genes) and their functional contributions to flowering and abiotic stress-related traits in P. densiflora. Allele-aware resequencing analysis revealed PAV gene diversity across P. densiflora accessions. Our study provides insights into key mechanisms underlying the evolution of genome structure, LTR-RTs and TFs within the Pinus lineage as well as allelic imbalances and diversity across P. densiflora.

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제목
Haplotype-resolved genome assembly and resequencing analysis provide insights into genome evolution and allelic imbalance in <i>Pinus densiflora</i>
저자
Jang, Min-JeongCho, Hye JeongPark, Young-SooLee, Hye-YoungBae, Eun-KyungJung, SeungmeeJin, HongshiWoo, JongchanPark, EunsookKim, Seo-JinChoi, Jin-WookChae, Geun YoungGuk, Ji-YoonKim, Do YeonKim, Sun-HyungKang, Min-JeongLee, HyoshinCheon, Kyeong-SeongKim, In SikKim, Yong-MinKim, Myung-ShinKo, Jae-HeungKang, Kyu-SukChoi, DoilPark, Eung-JunKim, Seungill
DOI
10.1038/s41588-024-01944-y
발행일
2024-11
유형
Article
저널명
Nature Genetics
56
11
페이지
2551 ~ 2561