scholarly journals The role of deleterious substitutions in crop genomes

2015 ◽  
Author(s):  
Thomas J. Y. Kono ◽  
Fengli Fu ◽  
Mohsen Mohammadi ◽  
Paul J. Hoffman ◽  
Chaochih Liu ◽  
...  
Keyword(s):  
Demographic History ◽  
Crop Improvement ◽  
Crop Productivity ◽  
Ratio Test ◽  
Protein Coding ◽  
Coding Regions ◽  
Fitness Effects ◽  
Genome Wide ◽  
History Of ◽  
New Mutations

AbstractPopulations continually incur new mutations with fitness effects ranging from lethal to adaptive. While the distribution of fitness effects (DFE) of new mutations is not directly observable, many mutations likely have either no effect on organismal fitness or are deleterious. Historically, it has been hypothesized that a population may carry many mildly deleterious variants as segregating variation, which reduces the mean absolute fitness of the population. Recent advances in sequencing technology and sequence conservation-based metrics for inferring the functional effect of a variant permit examination of the persistence of deleterious variants in populations. The issue of segregating deleterious variation is particularly important for crop improvement, because the demographic history of domestication and breeding allows deleterious variants to persist and reach moderate frequency, potentially reducing crop productivity. In this study, we use exome resequencing of fifteen barley accessions and genome resequencing of eight soybean accessions to investigate the prevalence of deleterious SNPs in the protein-coding regions of the genomes of two crops. We conclude that individual cultivars carry hundreds of deleterious SNPs on average, and that nonsense variants make up a minority of deleterious SNPs. Our approach annotates known phenotype-altering variants as deleterious more frequently than the genome-wide average, suggesting that putatively deleterious variants are likely to affect phenotypic variation. We also report the implementation of a SNP annotation tool (BAD_Mutations) that makes use of a likelihood ratio test based on alignment of all currently publicly available Angiosperm genomes.

scholarly journals The open targets post-GWAS analysis pipeline

2020 ◽  
Vol 36 (9) ◽  
pp. 2936-2937 ◽  
Author(s):  
Gareth Peat ◽  
William Jones ◽  
Michael Nuhn ◽  
José Carlos Marugán ◽  
William Newell ◽  
...  
Keyword(s):  
Drug Targets ◽  
Gene Expression Regulation ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Protein Coding ◽  
Data Resource ◽  
Coding Regions ◽  
Genome Wide ◽  
Causal Genes ◽  
Interactive Data

Abstract Motivation Genome-wide association studies (GWAS) are a powerful method to detect even weak associations between variants and phenotypes; however, many of the identified associated variants are in non-coding regions, and presumably influence gene expression regulation. Identifying potential drug targets, i.e. causal protein-coding genes, therefore, requires crossing the genetics results with functional data. Results We present a novel data integration pipeline that analyses GWAS results in the light of experimental epigenetic and cis-regulatory datasets, such as ChIP-Seq, Promoter-Capture Hi-C or eQTL, and presents them in a single report, which can be used for inferring likely causal genes. This pipeline was then fed into an interactive data resource. Availability and implementation The analysis code is available at www.github.com/Ensembl/postgap and the interactive data browser at postgwas.opentargets.io.

A porcine brain-wide RNA editing landscape

2020 ◽  
Author(s):  
Jinrong Huang ◽  
Lin Lin ◽  
Zhanying Dong ◽  
Ling Yang ◽  
Tianyu Zheng ◽  
...  
Keyword(s):  
Rna Editing ◽  
Repetitive Sequences ◽  
Brain Regions ◽  
Mammalian Brain ◽  
Protein Coding ◽  
Porcine Brain ◽  
Coding Regions ◽  
Pig Brain ◽  
Genome Wide ◽  
A Genome

Abstract Adenosine-to-inosine (A-to-I) RNA editing, catalyzed by ADAR enzymes, is an essential post-transcriptional modification. Although hundreds of thousands of RNA editing sites have been reported in mammals, brain-wide analysis of the RNA editing in the mammalian brain remains rare. Here, a genome-wide RNA editing investigation is performed in 119 samples, representing 30 anatomically defined subregions in the pig brain. We identify a total of 682,037 A-to-I RNA editing sites of which 97% are not identified before. Within the pig brain, cerebellum and olfactory bulb are regions with most edited transcripts. The editing level of sites residing in protein-coding regions are similar across brain regions, whereas region-distinct editing is observed in repetitive sequences. Highly edited conserved recoding events in pig and human brain are found in neurotransmitter receptors, demonstrating the evolutionary importance of RNA editing in neurotransmission functions. The porcine brain-wide RNA landscape provides a rich resource to better understand the evolutionally importance of post-transcriptional RNA editing.

scholarly journals Genome - wide variation and demographic history of small cats with a focus on Felis species

2017 ◽  
Vol 1 (Special Issue) ◽  
pp. 15-15
Author(s):  
Anubhab Khan ◽  
Rithvik Vinekar ◽  
Prachi Thatte ◽  
Uma Ramakrishnan
Keyword(s):  
Demographic History ◽  
Genome Wide ◽  
History Of

scholarly journals Blockwise Site Frequency Spectra for Inferring Complex Population Histories and Recombination

2016 ◽  
Author(s):  
Champak R. Beeravolu ◽  
Michael J. Hickerson ◽  
Laurent A.F. Frantz ◽  
Konrad Lohse
Keyword(s):  
Demographic History ◽  
Composite Likelihood ◽  
Model Organisms ◽  
Secondary Contact ◽  
Parameter Estimates ◽  
Genome Sequences ◽  
Frequency Spectra ◽  
Genome Wide ◽  
Complex Population ◽  
History Of

AbstractWe introduce ABLE (Approximate Blockwise Likelihood Estimation), a novel composite likelihood framework based on a recently introduced summary of sequence variation: the blockwise site frequency spectrum (bSFS). This simulation-based framework uses the the frequencies of bSFS configurations to jointly model demographic history and recombination and is explicitly designed to make inference using multiple whole genomes or genome-wide multi-locus data (e.g. RADSeq) catering to the needs of researchers studying model or non-model organisms respectively. The flexible nature of our method further allows for arbitrarily complex population histories using unphased and unpolarized whole genome sequences. In silico experiments demonstrate accurate parameter estimates across a range of divergence models with increasing complexity, and as a proof of principle, we infer the demographic history of the two species of orangutan from multiple genome sequences (over 160 Mbp in length) from each species. Our results indicate that the two orangutan species split approximately 650-950 thousand years ago but experienced a pulse of secondary contact much more recently, most likely during a period of low sea-level South East Asia (∼300,000 years ago). Unlike previous analyses we can reject a history of continuous gene flow and co-estimate genome-wide recombination. ABLE is available for download at https://github.com/champost/ABLE.

scholarly journals On the origins and evolution of trans-splicing of bursicon in mosquitos

2016 ◽  
Author(s):  
Scott William Roy
Keyword(s):  
Last Common Ancestor ◽  
Protein Coding ◽  
Rna Transcripts ◽  
Coding Regions ◽  
Transcriptomic Sequencing ◽  
Trans Splicing ◽  
Internal Exon ◽  
History Of ◽  
Rna Transcript ◽  
Distinct Locus

Broad transcriptomic sequencing of eukaryotes has revealed the ubiquity of splicing of nuclear genes. While the vast majority of splicing events join segments of the same RNA transcript, various studies have found a few intriguing cases of trans-splicing of introns, in which splicing events within protein coding regions join segments of different RNA transcripts. The most structurally intricate case known involves the bursicon gene in mosquitos, in which an internal exon is encoded at a distinct locus, requiring multiple trans-splicing events form the mature mRNA. This arrangement is known to be ancestral to mosquitos, however the exact timing of the origin of trans-splicing and the history of the bursicon gene within mosquitos is unknown. Taking advantage of the recent availability of genomes from various Anopheles mosquitos and from relatives of mosquitos, I determined trans versus cis encoding of bursicon across Culicomorpha. I conclude that trans-splicing emerged in the last common ancestor of mosquitos, and that trans-splicing has been retained in all 19 studied Anopheles species. The retention of trans-splicing could indicate functional importance of this arrangement, or could alternatively reflect the rarity of mutations giving rise to viable allelic alternatives.

scholarly journals Genome-wide patterns of genetic diversity, population structure and demographic history in mānuka (Leptospermum scoparium) grown on indigenous Māori land

2021 ◽  
Author(s):  
Emily Koot ◽  
Elise Arnst ◽  
Melissa Taane ◽  
Kelsey Goldsmith ◽  
Peri Tobias ◽  
...  
Keyword(s):  
New Zealand ◽  
Demographic History ◽  
Gene Pools ◽  
Phylogenetic Studies ◽  
Aotearoa New Zealand ◽  
Genome Wide ◽  
History Of ◽  
Demographic Modelling ◽  
Management And Conservation ◽  
Leptospermum Scoparium

Leptospermum scoparium J. R. Forst et G. Forst, known as mānuka by Māori, the indigenous people of Aotearoa (New Zealand), is a culturally and economically significant shrub species, native to New Zealand and Australia. Chemical, morphological and phylogenetic studies have indicated geographical variation of mānuka across its range in New Zealand, and genetic differentiation between New Zealand and Australia. We used pooled whole genome re-sequencing of 76 L. scoparium and outgroup populations from New Zealand and Australia to compile a dataset totalling ~2.5 million SNPs. We explored the genetic structure and relatedness of L. scoparium across New Zealand, and between populations in New Zealand and Australia, as well as the complex demographic history of this species. Our population genomic investigation suggests there are five geographically distinct mānuka gene pools within New Zealand, with evidence of gene flow occurring between these pools. Demographic modelling suggests three of these gene pools have undergone expansion events, whilst the evolutionary histories of the remaining two have been subjected to contractions. Furthermore, mānuka populations in New Zealand are genetically distinct from populations in Australia, with coalescent modelling suggesting these two clades diverged ~9 –12 million years ago. We discuss the evolutionary history of this species and the benefits of using pool-seq for such studies. Our research will support the management and conservation of mānuka by landowners, particularly Māori, and the development of a provenance story for the branding of mānuka based products.

scholarly journals Genome-Wide SNP Analysis Reveals Population Structure and Demographic History of the Ryukyu Islanders in the Southern Part of the Japanese Archipelago

2014 ◽  
Vol 31 (11) ◽  
pp. 2929-2940 ◽  
Author(s):  
Takehiro Sato ◽  
Shigeki Nakagome ◽  
Chiaki Watanabe ◽  
Kyoko Yamaguchi ◽  
Akira Kawaguchi ◽  
...  
Keyword(s):  
Population Structure ◽  
Demographic History ◽  
Snp Analysis ◽  
Japanese Archipelago ◽  
Genome Wide ◽  
History Of ◽  
The Japanese Archipelago

scholarly journals Novel insights on demographic history of tribal and caste groups from West Maharashtra (India) using genome-wide data

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Guilherme Debortoli ◽  
Cristina Abbatangelo ◽  
Francisco Ceballos ◽  
Cesar Fortes-Lima ◽  
Heather L. Norton ◽  
...  
Keyword(s):  
Demographic History ◽  
Genome Wide ◽  
Genome Wide Data ◽  
History Of ◽  
Caste Groups

scholarly journals Genetic Diversity and Demographic History of Cajanus spp. Illustrated from Genome-Wide SNPs

PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e88568 ◽  
Author(s):  
Rachit K. Saxena ◽  
Eric von Wettberg ◽  
Hari D. Upadhyaya ◽  
Vanessa Sanchez ◽  
Serah Songok ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Demographic History ◽  
Genome Wide ◽  
History Of

scholarly journals Identifying Liver Cancer-Related Enhancer SNPs by Integrating GWAS and Histone Modification ChIP-seq Data

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Tianjiao Zhang ◽  
Yang Hu ◽  
Xiaoliang Wu ◽  
Rui Ma ◽  
Qinghua Jiang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Liver Cancer ◽  
Histone Modification ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Protein Coding ◽  
Noncoding Regions ◽  
Coding Regions ◽  
Genome Wide

Many disease-related single nucleotide polymorphisms (SNPs) have been inferred from genome-wide association studies (GWAS) in recent years. Numerous studies have shown that some SNPs located in protein-coding regions are associated with numerous diseases by affecting gene expression. However, in noncoding regions, the mechanism of how SNPs contribute to disease susceptibility remains unclear. Enhancer elements are functional segments of DNA located in noncoding regions that play an important role in regulating gene expression. The SNPs located in enhancer elements may affect gene expression and lead to disease. We presented a method for identifying liver cancer-related enhancer SNPs through integrating GWAS and histone modification ChIP-seq data. We identified 22 liver cancer-related enhancer SNPs, 9 of which were regulatory SNPs involved in distal transcriptional regulation. The results highlight that these enhancer SNPs may play important roles in liver cancer.

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