scholarly journals Characterization of Genomic Variation from Lotus (Nelumbo Adans.) Mutants with Wide and Narrow Tepals

Horticulturae ◽  
2021 ◽  
Vol 7 (12) ◽  
pp. 593
Author(s):  
Fengluan Liu ◽  
Mi Qin ◽  
Shuo Li ◽  
Dasheng Zhang ◽  
Qingqing Liu ◽  
...  
Keyword(s):  
Gene Ontology ◽  
Candidate Genes ◽  
Genomic Variation ◽  
Nucleotide Polymorphisms ◽  
Kegg Database ◽  
Water Lily ◽  
Single Nucleotide ◽  
Deletion Mutations ◽  
Variant Genes

Compared with rose, chrysanthemum, and water lily, the absence of short-wide and long-narrow tepals of ornamental lotus (Nelumbo Adans.) limits the commercial value of flowers. In this study, the genomes of two groups of lotus mutants with wide-short and narrow-long tepals were resequenced to uncover the genomic variation and candidate genes associated with tepal shape. In group NL (short for N. lutea, containing two mutants and one control of N. lutea), 716,656 single nucleotide polymorphisms (SNPs) and 221,688 insertion-deletion mutations (Indels) were obtained, while 639,953 SNPs and 134,6118 Indels were obtained in group WSH (short for ‘Weishan Hong’, containing one mutant and two controls of N. nucifera ‘Weishan Hong’). Only a small proportion of these SNPs and Indels was mapped to exonic regions of genome: 1.92% and 0.47%, respectively, in the NL group, and 1.66% and 0.48%, respectively, in the WSH group. Gene Ontology (GO) analysis showed that out of 4890 (NL group) and 1272 (WSH group) annotated variant genes, 125 and 62 genes were enriched (Q < 0.05), respectively. Additionally, in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, 104 genes (NL group) and 35 genes (WSH group) were selected (p < 0.05). Finally, there were 306 candidate genes that were sieved to determine the development of tepal shape in lotus plants. It will be an essential reference for future identification of tepal-shaped control genes in lotus plants. This is the first comprehensive report of genomic variation controlling tepal shape in lotus, and the mutants in this study are promising materials for breeding novel lotus cultivars with special tepals.

scholarly journals Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population

2003 ◽  
Vol 48 (5) ◽  
pp. 213-216 ◽  
Author(s):  
Jong-Keuk Lee ◽  
Hung-Tae Kim ◽  
Sung-Mi Cho ◽  
Kyung-Hee Kim ◽  
Hee-Jeong Jin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Characterization of the Gray Whale Eschrichtius robustus Genome and a Genotyping Array Based on Single-Nucleotide Polymorphisms in Candidate Genes

2017 ◽  
Vol 232 (3) ◽  
pp. 186-197 ◽  
Author(s):  
J. Andrew DeWoody ◽  
Nadia B. Fernandez ◽  
Anna Brüniche-Olsen ◽  
Jennifer D. Antonides ◽  
Jacqueline M. Doyle ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Gray Whale ◽  
Nucleotide Polymorphisms ◽  
Eschrichtius Robustus ◽  
Single Nucleotide ◽  
Genotyping Array

Detection of Genomic Variation and Tepal Shape Related Genes Between Broad and Narrow Tepal Lotus (Nelumbo Adans.) by whole Genome Resequencing

2021 ◽  
Author(s):  
Feng-Luan Liu ◽  
Mi Qin ◽  
Shuo Li ◽  
Da-Sheng Zhang ◽  
Qing-Qing Liu ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Genomic Variation ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Wild Type ◽  
Genome Resequencing ◽  
Pollinator Attraction ◽  
Water Lily ◽  
Epidermal Growth ◽  
Whole Genome Resequencing

Abstract Background: The shape, color, and size of petals or tepals are vital attributes of flowering plants, as they affect the pollinator attraction ability, environmental stress adaptation, and ornamental value of plants. Compared with rose, chrysanthemum, and water lily, the tepal shapes of lotus (Nelumbo Adans.) exhibit low variation, and the absence of short-broad and long-narrow tepals limits the commercial value of lotus flowers. Therefore, this study aimed to uncover the genomic variation underlying the broad and narrow tepal phenotypes of lotus flowers, and to screen candidate genes associated with different tepal shapes.Results: Whole genome resequencing of two groups of lotus, NL (comprising three American lotus genotypes: broad tepal mutant, narrow tepal mutant, and wild type) and WSH (comprising two Asian lotus genotypes: narrow tepal mutant and wild type), generated 9.23–12.85 Gb clean data. A total of 716,656 single nucleotide polymorphisms (SNPs) and 221,688 insertion-deletion mutations (Indels) were obtained in the NL group, while 639,953 SNPs and 134,6118 Indels were obtained in the WSH group. Only a small proportion of these SNPs and Indels was mapped to exonic regions of genome: 1.92% and 0.47%, respectively, in the NL group, and 1.66% and 0.48%, respectively, in the WSH group. Gene Ontology (GO) analysis showed that out of 4,890 (NL group) and 1,272 (WSH group) annotated variant genes, 125 and 62 genes were enriched (Q < 0.05), respectively. Additionally, in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, 104 genes (NL group) and 35 genes (WSH group) were selected (P < 0.05). Finally, 41 genes were filtered and predicted to be associated with tepal shape in lotus.Conclusions: This is the first comprehensive report of genomic variation controlling tepal shape in lotus. Significant genetic variation was detected between the wild-type and mutant lotus genotypes, and varying levels of differentiation between groups NL and WSH. Candidate genes containing epidermal growth factor (EGF) and wall-associated receptor kinase (WAK) domains are considered important targets for further research on tepal development. Overall, the genomic data and candidate genes obtained in this study are essential references for future identification of tepal-shaped control genes in lotus combined with transcriptome analysis and quantitative trait loci (QTL) mapping.

Analysis of Inter-Chromosomal Distribution of Disease-Related Genes in Human Genome

2020 ◽  
Vol 21 (11) ◽  
pp. 1068-1077
Author(s):  
Xiaochao Sun ◽  
Bin Yang ◽  
Qunye Zhang
Keyword(s):  
Spatial Distribution ◽  
Model Organisms ◽  
Nucleotide Polymorphisms ◽  
Chromosomal Distribution ◽  
Single Nucleotide ◽  
Protein Coding ◽  
Single Chromosome ◽  
Deletion Mutations ◽  
Protein Coding Genes ◽  
Disease Related Genes

: Many studies have shown that the spatial distribution of genes within a single chromosome exhibits distinct patterns. However, little is known about the characteristics of inter-chromosomal distribution of genes (including protein-coding genes, processed transcripts and pseudogenes) in different genomes. In this study, we explored these issues using the available genomic data of both human and model organisms. Moreover, we also analyzed the distribution pattern of protein-coding genes that have been associated with 14 common diseases and the insert/deletion mutations and single nucleotide polymorphisms detected by whole genome sequencing in an acute promyelocyte leukemia patient. We obtained the following novel findings. Firstly, inter-chromosomal distribution of genes displays a nonstochastic pattern and the gene densities in different chromosomes are heterogeneous. This kind of heterogeneity is observed in genomes of both lower and higher species. Secondly, protein-coding genes involved in certain biological processes tend to be enriched in one or a few chromosomes. Our findings have added new insights into our understanding of the spatial distribution of genome and disease- related genes across chromosomes. These results could be useful in improving the efficiency of disease-associated gene screening studies by targeting specific chromosomes.

Dementia key gene identification with multi-layered SNP-gene-disease network

2020 ◽  
Vol 36 (Supplement_2) ◽  
pp. i831-i839
Author(s):  
Dong-gi Lee ◽  
Myungjun Kim ◽  
Sang Joon Son ◽  
Chang Hyung Hong ◽  
Hyunjung Shin
Keyword(s):  
Candidate Genes ◽  
Learning Algorithm ◽  
Search Space ◽  
Supplementary Information ◽  
Gene Identification ◽  
Nucleotide Polymorphisms ◽  
Disease Network ◽  
Single Nucleotide ◽  
Key Genes ◽  
Significant Attention

Abstract Motivation Recently, various approaches for diagnosing and treating dementia have received significant attention, especially in identifying key genes that are crucial for dementia. If the mutations of such key genes could be tracked, it would be possible to predict the time of onset of dementia and significantly aid in developing drugs to treat dementia. However, gene finding involves tremendous cost, time and effort. To alleviate these problems, research on utilizing computational biology to decrease the search space of candidate genes is actively conducted. In this study, we propose a framework in which diseases, genes and single-nucleotide polymorphisms are represented by a layered network, and key genes are predicted by a machine learning algorithm. The algorithm utilizes a network-based semi-supervised learning model that can be applied to layered data structures. Results The proposed method was applied to a dataset extracted from public databases related to diseases and genes with data collected from 186 patients. A portion of key genes obtained using the proposed method was verified in silico through PubMed literature, and the remaining genes were left as possible candidate genes. Availability and implementation The code for the framework will be available at http://www.alphaminers.net/. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals From raw reads to trees: Whole genome SNP phylogenetics across the tree of life

2015 ◽  
Author(s):  
Sanaa Afroz Ahmed ◽  
Chien-Chi Lo ◽  
Po-E Li ◽  
Karen W Davenport ◽  
Patrick S.G. Chain
Keyword(s):  
Ad Hoc ◽  
Phylogenetic Reconstruction ◽  
Clinical Samples ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Complex Samples ◽  
Phylogenetic Characterization ◽  
Genome Wide ◽  
Genome Assemblies

Next-generation sequencing is increasingly being used to examine closely related organisms. However, while genome-wide single nucleotide polymorphisms (SNPs) provide an excellent resource for phylogenetic reconstruction, to date evolutionary analyses have been performed using different ad hoc methods that are not often widely applicable across different projects. To facilitate the construction of robust phylogenies, we have developed a method for genome-wide identification/characterization of SNPs from sequencing reads and genome assemblies. Our phylogenetic and molecular evolutionary (PhaME) analysis software is unique in its ability to take reads and draft/complete genome(s) as input, derive core genome alignments, identify SNPs, construct phylogenies and perform evolutionary analyses. Several examples using genomes and read datasets for bacterial, eukaryotic and viral linages demonstrate the broad and robust functionality of PhaME. Furthermore, the ability to incorporate raw metagenomic reads from clinical samples with suspected infectious agents shows promise for the rapid phylogenetic characterization of pathogens within complex samples.

scholarly journals Haplotypes within tandemly duplicated candidate genes at BnaA9.MRP5 modulate phytate concentration in canola (Brassica napus L.)

2021 ◽  
Author(s):  
Haijiang Liu ◽  
xiaojuan Li ◽  
Qianwen Zhang ◽  
pan yuan ◽  
Lei Liu ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Oilseed Rape ◽  
Genome Wide Association Study ◽  
Mineral Elements ◽  
Nucleotide Polymorphisms ◽  
Brassica Napus L ◽  
Single Nucleotide ◽  
Genome Wide ◽  
A Genome ◽  
Phytate Content

Phytate is the storage form of phosphorus in angiosperm seeds and plays vitally important roles during seed development. However, in crop plants phytate decreases bioavailability of seed-sourced mineral elements for humans, livestock and poultry, and contributes to phosphate-related water pollution. However, there is little knowledge about this trait in oilseed rape B. napus (oilseed rape). Here, a panel of 505 diverse B. napus accessions was screened in a genome-wide association study (GWAS) using 3.28 x 106 single nucleotide polymorphisms (SNPs). This identified 119 SNPs significantly associated with phytate concentration (PA_Conc) and phytate content (PA_Cont) and six candidate genes were identified. Of these, BnaA9.MRP5 represented the candidate gene for the significant SNP chrA09_5198034 (27kb) for both PA_Cont and PA_Conc. Transcription of BnaA9.MRP5 in a low -phytate variety (LPA20) was significantly elevated compared with a high -phytate variety (HPA972). Association and haplotype analysis indicated that inbred lines carrying specific SNP haplotypes within BnaA9.MRP5 were associated with high- and low-phytate phenotypes. No significant differences in seed germination and seed yield were detected between low and high phytate cultivars examined. Candidate genes, favorable haplotypes and the low phytate varieties identified in this study will be useful for low-phytate breeding of B. napus.

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