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Recent amplification of Osr4 LTR-retrotransposon caused rice D1 gene mutation and dwarf phenotype.

ABSTRACT: A novel rice d1 mutant was identified using map-based cloning and comparative analysis of known d1 mutants. The mutant (d1-a) shows a mild dwarf trait, which differs only slightly from the wildtype in plant height at the tillering stage. The d1-a mutant is different from other d1 mutants. We found that it was interrupted by an Osr4 long terminal repeat (LTR)-retrotransposon, which resulted in the loss of exon 7 in the mutant D1 mRNA. A paralog of the D1 gene, D1-like, was revealed. D1-like is a truncated gene that might have resulted from recombination between retrotransposons. We identified 65 Osr4 LTR-retrotransposons in Nipponbare, and found more LTR variants in contrast to coding DNA sequence (CDS) in the retrotransposons. We also identified five possible regulatory motifs in LTRs which may control the expression of the retrotransposons. In addition, we predicted six putative functional Osr4 retrotransposons that contain complete CDSs and all important elements. Osr4 retrotransposons were classified into 4 groups, and this type of retrotransposon only appears to be present in monocots. Members of group I-1, which included all putative functional retrotransposons, showed a high similarity with each other. The retrotransposons were expressed in all tissues, at especially higher levels in some leaves and seeds. These findings imply that transpositions of group I-1 members might have occurred frequently and recently.

SUBMITTER: Chen J

PROVIDER: S-EPMC6112278 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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Recent amplification of Osr4 LTR-retrotransposon caused rice D1 gene mutation and dwarf phenotype.

Chen Jie J Zhao Hong H Zheng Xiujuan X Liang Kangjing K Guo Yuchun Y Sun Xinli X

Plant diversity 20170202 2

A novel rice d1 mutant was identified using map-based cloning and comparative analysis of known d1 mutants. The mutant (d1-a) shows a mild dwarf trait, which differs only slightly from the wildtype in plant height at the tillering stage. The d1-a mutant is different from other d1 mutants. We found that it was interrupted by an Osr4 long terminal repeat (LTR)-retrotransposon, which resulted in the loss of exon 7 in the mutant D1 mRNA. A paralog of the ...[more]

PMID: 30159494

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Project description:BackgroundLong terminal repeat retrotransposons (LTR elements) are ubiquitous Eukaryotic TEs that transpose through RNA intermediates. Accounting for significant proportion of many plant genomes, LTR elements have been well established as one of the major forces underlying the evolution of plant genome size, structure and function. The accessibility of more than 40% of genomic sequences of the model legume Medicago truncatula (Mt) has made the comprehensive study of its LTR elements possible.ResultsWe use a newly developed tool LTR_FINDER to identify LTR retrotransposons in the Mt genome and detect 526 full-length elements as well as a great number of copies related to them. These elements constitute about 9.6% of currently available genomic sequences. They are classified into 85 families of which 64 are reported for the first time. The majority of the LTR retrotransposons belong to either Copia or Gypsy superfamily and the others are categorized as TRIMs or LARDs by their length. We find that the copy-number of Copia-like families is 3 times more than that of Gypsy-like ones but the latter contribute more to the genome. The analysis of PBS and protein-coding domain structure of the LTR families reveals that they tend to use only 4-5 types of tRNAs and many families have quite conservative ORFs besides known TE domains. For several important families, we describe in detail their abundance, conservation, insertion time and structure. We investigate the amplification-deletion pattern of the elements and find that the detectable full-length elements are relatively young and most of them were inserted within the last 0.52 MY. We also estimate that more than ten million bp of the Mt genomic sequences have been removed by the deletion of LTR elements and the removal of the full-length structures in Mt has been more rapid than in rice.ConclusionThis report is the first comprehensive description and analysis of LTR retrotransposons in the Mt genome. Many important novel LTR families were discovered and their evolution is elucidated. Our results may outline the LTR retrotransposon landscape of the model legume.

Project description:BackgroundIn contrast to DNA-mediated transposable elements (TEs), retrotransposons, particularly non-long terminal repeat retrotransposons (non-LTRs), are generally considered to have a much lower propensity towards horizontal transfer. Detailed studies on site-specific non-LTR families have demonstrated strict vertical transmission. More studies are needed with non-site-specific non-LTR families to determine whether strict vertical transmission is a phenomenon related to site specificity or a more general characteristic of all non-LTRs. Juan is a Jockey clade non-LTR retrotransposon first discovered in mosquitoes that is widely distributed in the mosquito family Culicidae. Being a non-site specific non-LTR, Juan offers an opportunity to further investigate the hypothesis that non-LTRs are genomic elements that are primarily vertically transmitted.ResultsSystematic analysis of the ~1.3 Gbp Aedes aegypti (Ae. aegypti) genome sequence suggests that Juan-A is the only Juan-type non-LTR in Aedes aegypti. Juan-A is highly reiterated and comprises approximately 3% of the genome. Using minimum cutoffs of 90% length and 70% nucleotide (nt) identity, 663 copies were found by BLAST using the published Juan-A sequence as the query. All 663 copies are at least 95% identical to Juan-A, while 378 of these copies are 99% identical to Juan-A, indicating that the Juan-A family has been transposing recently in evolutionary history. Using the 0.34 Kb 5' UTR as the query, over 2000 copies were identified that may contain internal promoters, leading to questions on the genomic impact of Juan-A. Juan sequences were obtained by PCR, library screening, and database searches for 18 mosquito species of six genera including Aedes, Ochlerotatus, Psorophora, Culex, Deinocerites, and Wyeomyia. Comparison of host and Juan phylogenies shows overall congruence with few exceptions.ConclusionJuan-A is a major genomic component in Ae. aegypti and it has been retrotransposing recently in evolutionary history. There are also indications that Juan has been recently active in a wide range of mosquito species. Furthermore, our research demonstrates that a Jockey clade non-LTR without target site-specificity has been sustained by vertical transmission in the mosquito family. These results strengthen the argument that non-LTRs tend to be genomic elements capable of persistence by vertical descent over a long evolutionary time.

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Recent amplification of Osr4 LTR-retrotransposon caused rice D1 gene mutation and dwarf phenotype.

Publications

Recent amplification of Osr4 LTR-retrotransposon caused rice <i>D1</i> gene mutation and dwarf phenotype.

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