Genomic regions associated with herbicide tolerance in a worldwide faba bean (Vicia faba L.) collection

AbstractWeeds represent one of the major constraints for faba bean crop. The identification of molecular markers associated with key genes imparting tolerance to herbicides can facilitate and fasten the efficient and effective development of herbicide tolerant cultivars. We phenotyped 140 faba bean genotypes in three open field experiments at two locations in Lebanon and Morocco against three herbicide treatments (T1 metribuzin 250 g ai/ha; T2 imazethapyr 75 g ai/ha; T3 untreated) and one in greenhouse where T1 and T3 were applied. The same set was genotyped using genotyping by sequencing (GBS) which yield 10,794 high quality single nucleotide polymorphisms (SNPs). ADMIXTURE software was used to infer the population structure which revealed two ancestral subpopulations. To identify SNPs associated with phenological and yield related traits under herbicide treatments, Single-trait (ST) and Multi-trait (MT) Genome Wide Association Studies (GWAS) were fitted using GEMMA software, showing 10 and 14 highly significant associations, respectively. Genomic sequences containing herbicide tolerance associated SNPs were aligned against the NCBI database using BLASTX tool using default parameters to annotate candidate genes underlying the causal variants. SNPs from acidic endochitinase, LRR receptor-like serine/threonine-protein kinase RCH1, probable serine/threonine-protein kinase NAK, malate dehydrogenase, photosystem I core protein PsaA and MYB-related protein P-like were significantly associated with herbicide tolerance traits.

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An investigation of genetic polymorphisms in Heparan Sulfate Proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

10.21203/rs.2.23090/v1 ◽

2020 ◽

Author(s):

Rachel K Okolicsanyi ◽

Julia Bluhm ◽

Cassandra Miller ◽

Lyn R Griffiths ◽

Larisa M Haupt

Keyword(s):

Multiple Sclerosis ◽

Cell Surface ◽

Heparan Sulfate ◽

Demyelinating Disease ◽

Core Protein ◽

Association Studies ◽

International Studies ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Core Proteins

Abstract Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the extracellular matrix. HSPG biosynthesis is a complex process involving enzymatic attachment of heparan sulfate (HS) chains to a core protein. HS side chains mediate specific ligand and growth factor interactions directing cellular processes including cell adhesion, migration and differentiation. Two main families of HSPGs exist, the syndecans (SDC1-4) and glypicans (GPC1-6). The SDCs are transmembrane proteins, while the GPC family are GPI-linked to the cell surface. SDC1 has well-documented interactions with numerous signalling pathways. Genome wide association studies (GWAS) have identified regions of the genome associated with MS including a region on chromosome 13 containing GPC5 and GPC6. International studies have revealed significant associations between this region and disease development. Exostosin-1 (EXT1) and sulfatase-1 (SULF1) are two enzymes responsible for the generation of HS chains. EXT1, with documented tumour suppressor properties, is involved in initiation and polymerisation of the growing HS chain. SULF1 removes 6- O -sulfate groups from HS chains, thereby affecting protein-ligand interactions and subsequent downstream signalling with HS modification potentially having significant effects on MS progression. In this study we identified significant associations between single nucleotide polymorphisms in SDC1, GPC5 and GPC6 and MS in an Australian Caucasian case control population. Further significant associations in these genes were identified when the population was stratified by sex and disease subtype. No association was found for EXT1 or SULF1.

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Genotyping-by-Sequencing-Based Genome-Wide Association Studies of Fusarium Wilt Resistance in Radishes (Raphanus sativus L.)

Genes ◽

10.3390/genes12060858 ◽

2021 ◽

Vol 12 (6) ◽

pp. 858

Author(s):

O New Lee ◽

Hyunjin Koo ◽

Jae Woong Yu ◽

Han Yong Park

Keyword(s):

Fusarium Wilt ◽

Association Studies ◽

Genotyping By Sequencing ◽

Genome Wide Association ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Gwas Study ◽

F2 Population ◽

Genome Wide ◽

Resistant Varieties

Fusarium wilt (FW) is a fungal disease that causes severe yield losses in radish production. The most effective method to control the FW is the development and use of resistant varieties in cultivation. The identification of marker loci linked to FW resistance are expected to facilitate the breeding of disease-resistant radishes. In the present study, we applied an integrated framework of genome-wide association studies (GWAS) using genotyping-by-sequencing (GBS) to identify FW resistance loci among a panel of 225 radish accessions, including 58 elite breeding lines. Phenotyping was conducted by manual inoculation of seedlings with the FW pathogen, and scoring for the disease index was conducted three weeks after inoculation during two constitutive years. The GWAS analysis identified 44 single nucleotide polymorphisms (SNPs) and twenty putative candidate genes that were significantly associated with FW resistance. In addition, a total of four QTLs were identified from F2 population derived from a FW resistant line and a susceptible line, one of which was co-located with the SNPs on chromosome 7, detected in GWAS study. These markers will be valuable for molecular breeding programs and marker-assisted selection to develop FW resistant varieties of R. sativus.

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Adapting genotyping-by-sequencing and variant calling for heterogeneous stock rats

10.1101/523043 ◽

2019 ◽

Cited By ~ 2

Author(s):

Alexander F. Gileta ◽

Jianjun Gao ◽

Apurva S. Chitre ◽

Hannah V. Bimschleger ◽

Celine L. St. Pierre ◽

...

Keyword(s):

Association Studies ◽

Variant Calling ◽

Genotyping By Sequencing ◽

Genetic Maps ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Heterogeneous Stock ◽

Genotype Information ◽

Genotype By Sequencing ◽

Inbred Rat

ABSTRACTThe heterogeneous stock (HS) is an outbred rat population derived from eight inbred rat strains. HS rats are ideally suited for genome wide association studies; however, only a few genotyping microarrays have ever been designed for rats and none of them are currently in production. To address the need for an efficient and cost effective method of genotyping HS rats, we have adapted genotype-by-sequencing (GBS) to obtain genotype information at large numbers of single nucleotide polymorphisms (SNPs). In this paper, we have outlined the laboratory and computational steps we took to optimize double digest genotype-by-sequencing (ddGBS) for use in rats. We also evaluate multiple existing computational tools and explain the workflow we have used to call and impute over 3.7 million SNPs. We also compared various rat genetic maps, which are necessary for imputation, including a recently developed map specific to the HS. Using our approach, we obtained concordance rates of 99% with data obtained using data from a genotyping array. The principles and computational pipeline that we describe could easily be adapted for use in other species for which reliable reference genome sets are available.

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Adapting Genotyping-by-Sequencing and Variant Calling for Heterogeneous Stock Rats

G3 Genes|Genome|Genetics ◽

10.1534/g3.120.401325 ◽

2020 ◽

Vol 10 (7) ◽

pp. 2195-2205 ◽

Cited By ~ 1

Author(s):

Alexander F. Gileta ◽

Jianjun Gao ◽

Apurva S. Chitre ◽

Hannah V. Bimschleger ◽

Celine L. St. Pierre ◽

...

Keyword(s):

Association Studies ◽

Variant Calling ◽

Genotyping By Sequencing ◽

Genetic Maps ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Heterogeneous Stock ◽

Genotype Information ◽

Genotype By Sequencing ◽

Inbred Rat

The heterogeneous stock (HS) is an outbred rat population derived from eight inbred rat strains. HS rats are ideally suited for genome wide association studies; however, only a few genotyping microarrays have ever been designed for rats and none of them are currently in production. To address the need for an efficient and cost effective method of genotyping HS rats, we have adapted genotype-by-sequencing (GBS) to obtain genotype information at large numbers of single nucleotide polymorphisms (SNPs). In this paper, we have outlined the laboratory and computational steps we took to optimize double digest genotype-by-sequencing (ddGBS) for use in rats. We evaluated multiple existing computational tools and explain the workflow we have used to call and impute over 3.7 million SNPs. We have also compared various rat genetic maps, which are necessary for imputation, including a recently developed map specific to the HS. Using our approach, we obtained concordance rates of 99% with data obtained using data from a genotyping array. The principles and computational pipeline that we describe could easily be adapted for use in other species for which reliable reference genome sets are available.

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Molecular Characterization of Global Finger Millet (Eleusine coracana, L. Gaertn) germplasm Reaction to Striga in Kenya

Asian Journal of Biochemistry, Genetics and Molecular Biology ◽

10.9734/ajbgmb/2018/v1i2493 ◽

2018 ◽

pp. 1-14

Author(s):

Sirengo Peter Nyongesa ◽

Wamalwa Dennis Simiyu ◽

Oduor Chrispus ◽

Odeny Damaris Achieng ◽

Dangasuk Otto George

Keyword(s):

Finger Millet ◽

Association Studies ◽

Block Design ◽

Principal Component ◽

Genotyping By Sequencing ◽

Eleusine Coracana ◽

Striga Hermonthica ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Striga Resistance

Finger millet (Eleusine coracana, L. Gaertn) is an important food crop in Africa and Asia. The parasitic weed Striga hermonthica (Del.) Benth limits finger millet production through reduced yield in agro-ecologies where they exist. The damage of Striga to cereal crops is more severe under drought and low soil fertility. This study aims to determine genetic basis for reaction to Striga hermonthica among the selected germplasm of finger millets through genotyping by sequencing (GBS). One hundred finger millet genotypes were evaluated for reaction to Striga hermonthica infestation under field conditions at Alupe and Kibos in Western Kenya. The experiment was laid out in a randomized complete block design (RCBD) consisting of 10 x 10 square (triple lattice) under Striga (inoculated) and no Striga conditions and plant growth monitored to maturity after 110 days. All genotypes were genotyped by genotyping by sequencing (GBS) and data analyzed using the non-reference based Universal Network Enabled Analysis Kit (UNEAK) pipeline. Genome wide association studies (GWAS) were done to establish the association of detected Single Nucleotide Polymorphisms (SNPs) with Striga reaction based on field results. In molecular analysis 117,542 SNPs from raw GBS data used in GWAS revealed that markers TP 85424 and TP 88244 were associated with Striga resistance in the 95 genotypes. Principal Component Analysis revealed that the first and third component axes accounted for 2.5 and 8% of total variance respectively and the genotypes were distributed according to their reaction to Striga weed. Genetic diversity analysis grouped the 95 accessions into three major clusters containing; 32 (A), 56 (B), and 7 (C) genotypes. All finger millet genotypes that showed high resistance to Striga in the field were from cluster B while the most susceptible genotypes were from clusters A and C. Results revealed genetic variation for Striga resistance in cultivated finger millet genotypes and hence the possibility of marker –assisted breeding for resistance to Striga.

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Non-Mendelian inheritance of SNP markers reveals extensive chromosomal translocations in dioecious hops (Humulus lupulus L.)

10.1101/069849 ◽

2016 ◽

Cited By ~ 1

Author(s):

Dong Zhang ◽

Nicholi J. Pitra ◽

Mark C. Coles ◽

Edward S. Buckler ◽

Paul D. Matthews

Keyword(s):

Candidate Genes ◽

Association Studies ◽

Genotyping By Sequencing ◽

Mendelian Inheritance ◽

Snp Markers ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Genome Wide ◽

Population Structures ◽

Wild Accessions

AbstractGenome-wide meiotic recombination structures, sex chromosomes, and candidate genes for sex determination were discovered among Humulus spp. by application of a novel, high-density molecular marker system: ~1.2M single nucleotide polymorphisms (SNPs) were profiled with genotyping-by-sequencing (GBS) among 4512 worldwide accessions, including 4396 cultivars and landraces and 116 wild accessions of hops. Pre-qualified GBS markers were validated by inferences on families, population structures and phylogeny. Candidate genes discovered for several traits, including sex and drought stress-resistance, demonstrate the quality and utility of GBS SNPs for genome-wide association studies (GWAS) and Fst analysis in hops. Most importantly, pseudo-testcross mappings in F1 families delineated non-random linkage of Mendelian and non-Mendelian markers: structures that are indicative of unusual meiotic events which may have driven the evolution and cultivation of hops.

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An investigation of genetic polymorphisms in Heparan Sulfate Proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

10.21203/rs.2.23090/v2 ◽

2020 ◽

Author(s):

Rachel K Okolicsanyi ◽

Julia Bluhm ◽

Cassandra Miller ◽

Lyn R Griffiths ◽

Larisa M Haupt

Keyword(s):

Multiple Sclerosis ◽

Cell Surface ◽

Heparan Sulfate ◽

Demyelinating Disease ◽

Core Protein ◽

Association Studies ◽

International Studies ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Core Proteins

Abstract Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the extracellular matrix. HSPG biosynthesis is a complex process involving enzymatic attachment of heparan sulfate (HS) chains to a core protein. HS side chains mediate specific ligand and growth factor interactions directing cellular processes including cell adhesion, migration and differentiation. Two main families of HSPGs exist, the syndecans (SDC1-4) and glypicans (GPC1-6). The SDCs are transmembrane proteins, while the GPC family are GPI-linked to the cell surface. SDC1 has well-documented interactions with numerous signalling pathways. Genome wide association studies (GWAS) have identified regions of the genome associated with MS including a region on chromosome 13 containing GPC5 and GPC6. International studies have revealed significant associations between this region and disease development. The exostosin-1 (EXT1) and sulfatase-1 (SULF1) are key enzymes contributing to the generation of HS chains. EXT1, with documented tumour suppressor properties, is involved in initiation and polymerisation of the growing HS chain. SULF1 removes 6- O -sulfate groups from HS chains, affecting protein-ligand interactions and subsequent downstream signalling with HS modification potentially having significant effects on MS progression. In this study we identified significant associations between single nucleotide polymorphisms in SDC1, GPC5 and GPC6 and MS in an Australian Caucasian case control population. Further significant associations in these genes were identified when the population was stratified by sex and disease subtype. No association was found for EXT1 or SULF1.

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Development of a 76k Alpaca (Vicugna pacos) Single Nucleotide Polymorphisms (SNPs) Microarray

Genes ◽

10.3390/genes12020291 ◽

2021 ◽

Vol 12 (2) ◽

pp. 291

Author(s):

Marcos Calderon ◽

Manuel J. More ◽

Gustavo A. Gutierrez ◽

Federico Abel Ponce de León

Keyword(s):

Genetic Improvement ◽

Association Studies ◽

Fiber Quality ◽

Genotyping By Sequencing ◽

Economic Benefits ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Reduced Representation ◽

Improvement Programs

Small farm producers’ sustenance depends on their alpaca herds and the production of fiber. Genetic improvement of fiber characteristics would increase their economic benefits and quality of life. The incorporation of molecular marker technology could overcome current limitations for the implementation of genetic improvement programs. Hence, the aim of this project was the generation of an alpaca single nucleotide polymorphism (SNP) microarray. A sample of 150 Huacaya alpacas from four farms, two each in Puno and Cerro de Pasco were used for SNP discovery by genotyping by sequencing (GBS). Reduced representation libraries, two per animal, were produced after DNA digestion with ApeK1 and double digestion with Pst1-Msp1. Ten alpaca genomes, sequenced at depths between 12× to 30×, and the VicPac3.1 reference genome were used for read alignments. Bioinformatics analysis discovered 76,508 SNPs included in the microarray. Candidate genes SNPs (302) for fiber quality and color are also included. The microarray SNPs cover 90.5% of the genome length with a density of about 39 ± 2.51 SNPs/Mb of DNA at an average interval of 26.45 ± 18.57 kbp. The performance was evaluated by genotyping 30 family trios and comparing them to their pedigrees, as well as comparing microarray to GBS genotypes. Concordance values of 0.93 and 0.94 for ApeK1 and Pst1-Msp1 generated SNPs were observed. Similarly, 290 fiber quality and color candidate gene SNPs were validated. Availability of this microarray will facilitate genome-wide association studies, marker-assisted selection and, in time, genomic selection.

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Causal Association between Periodontitis and Parkinson’s Disease: A Bidirectional Mendelian Randomization Study

Genes ◽

10.3390/genes12050772 ◽

2021 ◽

Vol 12 (5) ◽

pp. 772

Author(s):

João Botelho ◽

Vanessa Machado ◽

José João Mendes ◽

Paulo Mascarenhas

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Instrumental Variables ◽

Mendelian Randomization ◽

Association Studies ◽

European Ancestry ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Genetic Liability ◽

Bidirectional Association

The latest evidence revealed a possible association between periodontitis and Parkinson’s disease (PD). We explored the causal relationship of this bidirectional association through two-sample Mendelian randomization (MR) in European ancestry populations. To this end, we used openly accessible data of genome-wide association studies (GWAS) on periodontitis and PD. As instrumental variables for periodontitis, seventeen single-nucleotide polymorphisms (SNPs) from a GWAS of periodontitis (1817 periodontitis cases vs. 2215 controls) and eight non-overlapping SNPs of periodontitis from an additional GWAS for validation purposes. Instrumental variables to explore for the reverse causation included forty-five SNPs from a GWAS of PD (20,184 cases and 397,324 controls). Multiple approaches of MR were carried-out. There was no evidence of genetic liability of periodontitis being associated with a higher risk of PD (B = −0.0003, Standard Error [SE] 0.0003, p = 0.26). The eight independent SNPs (B = −0.0000, SE 0.0001, p = 0.99) validated this outcome. We also found no association of genetically primed PD towards periodontitis (B = −0.0001, SE 0.0001, p = 0.19). These MR study findings do not support a bidirectional causal genetic liability between periodontitis and PD. Further GWAS studies are needed to confirm the consistency of these results.

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Pharmacogenomics of Lithium Response in Bipolar Disorder

Pharmaceuticals ◽

10.3390/ph14040287 ◽

2021 ◽

Vol 14 (4) ◽

pp. 287

Author(s):

Courtney M. Vecera ◽

Gabriel R. Fries ◽

Lokesh R. Shahani ◽

Jair C. Soares ◽

Rodrigo Machado-Vieira

Keyword(s):

Bipolar Disorder ◽

Association Studies ◽

Mood Stabilizer ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Non Coding Rna ◽

Genome Wide ◽

Lithium Response ◽

Genetic Loading ◽

Long Non Coding Rna

Despite being the most widely studied mood stabilizer, researchers have not confirmed a mechanism for lithium’s therapeutic efficacy in Bipolar Disorder (BD). Pharmacogenomic applications may be clinically useful in the future for identifying lithium-responsive patients and facilitating personalized treatment. Six genome-wide association studies (GWAS) reviewed here present evidence of genetic variations related to lithium responsivity and side effect expression. Variants were found on genes regulating the glutamate system, including GAD-like gene 1 (GADL1) and GRIA2 gene, a mutually-regulated target of lithium. In addition, single nucleotide polymorphisms (SNPs) discovered on SESTD1 may account for lithium’s exceptional ability to permeate cell membranes and mediate autoimmune and renal effects. Studies also corroborated the importance of epigenetics and stress regulation on lithium response, finding variants on long, non-coding RNA genes and associations between response and genetic loading for psychiatric comorbidities. Overall, the precision medicine model of stratifying patients based on phenotype seems to derive genotypic support of a separate clinical subtype of lithium-responsive BD. Results have yet to be expounded upon and should therefore be interpreted with caution.

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