Detailed Record



Haplotype-resolved genome assembly and resequencing analysis provide insights into genome evolution and allelic imbalance in Pinus densiflora


Abstract 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.
Authors Min‐Jeong Jang ORCID , Hye Jeong Cho , Young-Soo Park ORCID , Hye‐Young Lee ORCID , Eun‐Kyung Bae , Seungmee Jung University of WyomingORCID , Hongshi Jin University of WyomingORCID , Jongchan Woo University of WyomingORCID , Eunsook Park University of WyomingORCID , Seo‐Jin Kim ORCID , Jinwook Choi ORCID , Geun Young Chae ORCID , Ji‐Yoon Guk ORCID , Do Yeon Kim ORCID , Sun-Hyung Kim , Min‐Jeong Kang ORCID , Hyoshin Lee , Kyeong-Seong Cheon ORCID , In Sik Kim , Yong‐Min Kim ORCID , Myung‐Shin Kim ORCID , Jae‐Heung Ko ORCID , Kyu‐Suk Kang ORCID , Doil Choi ORCID , Eung‐Jun Park ORCID , Seungill Kim ORCID
Journal Info Nature Portfolio | Nature Genetics , vol: 56 , iss: 11 , pages: 2551 - 2561
Publication Date 10/20/2024
ISSN 1061-4036
TypeKeyword Image article
Open Access closed Closed Access
DOI https://doi.org/10.1038/s41588-024-01944-y
KeywordsKeyword Image Pinus densiflora (Score: 0.8300762)