0000000001188026

AUTHOR

Joaquín Cañizares

showing 21 related works from this author

Exploiting the diversity of tomato: the development of a phenotypically and genetically detailed germplasm collection

2020

[EN] A collection of 163 accessions, including Solanum pimpinellifolium, Solanum lycopersicum var. cerasiforme and Solanum lycopersicum var. lycopersicum, was selected to represent the genetic and morphological variability of tomato at its centers of origin and domestication: Andean regions of Peru and Ecuador and Mesoamerica. The collection is enriched with S. lycopersicum var. cerasiforme from the Amazonian region that has not been analyzed previously nor used extensively. The collection has been morphologically characterized showing diversity for fruit, flower and vegetative traits. Their genomes were sequenced in the Varitome project and are publicly available (solgenomics.net/projects/…

Agricultural genetics0106 biological sciences0301 basic medicineGermplasmCandidate geneGenomicsPlant ScienceHorticulture01 natural sciencesBiochemistryArticlePlant breeding03 medical and health sciencesGeneticsPlant breedingDomesticationCreixement (Plantes)biologyGenètica vegetalbiology.organism_classificationSolanum pimpinellifoliumGENETICA030104 developmental biologyInflorescenceEvolutionary biologySolanum010606 plant biology & botanyBiotechnology
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Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent

1994

The Friedreich's ataxia locus (FRDA) maps on chromosome 9q13. Genetic data, obtained from a small number of recombination events, indicated that the FRDA locus might be located centromeric to the D9S15/D9S5 linkage group, the most probable order being cen-FRDA-D9S5-D9S111-D9S15-D9S110-qter. Recently, new centromeric markers have been reported. Analysis of these markers allowed us to localize the recombination breakpoint in some of the recombinant families. However, only one proximal recombination has been found with these markers. To increase the genetic information from FRDA families, we have analyzed the centromeric markers FR1, FR2, FR7, FR8, and FR5 in patients homozygous by descent. Th…

GeneticsAtaxiaConsanguineous familyHaplotypeCentromereGenetic dataChromosome MappingLocus (genetics)BiologyPedigreeMeiosisFriedreich AtaxiaGeneticsmedicineHumansIn patientmedicine.symptomChromosomes Human Pair 9Genetics (clinical)RecombinationBiomarkers
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Discovery of a Major QTL Controlling Trichome IV Density in Tomato Using K-Seq Genotyping

2021

[EN] Trichomes are a common morphological defense against pests, in particular, type IV glandular trichomes have been associated with resistance against different invertebrates. Cultivated tomatoes usually lack or have a very low density of type IV trichomes. Therefore, for sustainable management of this crop, breeding programs could incorporate some natural defense mechanisms, such as those afforded by trichomes, present in certain Solanum species. We have identified a S. pimpinellifolium accession with very high density of this type of trichomes. This accession was crossed with a S. lycopersicum var. cerasiforme and a S. lycopersicum var. lycopersicum accessions, and the two resulting F2 …

0106 biological sciences0301 basic medicineGenotypelcsh:QH426-470QTLQuantitative Trait LociChromosome 9Genetic relationshiptomatoQuantitative trait locusMorfologia (Biologia)01 natural sciencesTomatoArticleTrichomes type IVCropK-seq03 medical and health sciencesSolanum lycopersicumGeneticsbiochemistryHumansGenotypingGenetics (clinical)Disease ResistancePlant DiseasesGeneticstrichomes type IVbiologyfungiGenètica vegetal<i>Solanum pimpinellifolium</i>Chromosome Mappingfood and beveragesSolanum pimpinellifoliumTrichomesbiology.organism_classificationSolanum pimpinellifoliumTrichomeGENETICAPlant Breedinglcsh:Genetics030104 developmental biologytrichomesSolanum010606 plant biology & botanyGenes
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Haplotype analyses reveal novel insights into tomato history and domestication driven by long-distance migrations and latitudinal adaptations.

2022

Abstract A novel haplotype-based approach that uses Procrustes analysis and automatic classification was used to provide further insights into tomato history and domestication. Agrarian societies domesticated species of interest by introducing complex genetic modifications. For tomatoes, two species, one of which had two botanical varieties, are thought to be involved in its domestication: the fully wild Solanum pimpinellifolium (SP), the wild and semi-domesticated Solanum lycopersicum var. cerasiforme (SLC) and the cultivated S. l. var. lycopersicum (SLL). The Procrustes approach showed that SP evolved into SLC during a gradual migration from the Peruvian deserts to the Mexican rainforests…

GeneticsMicrobiologiaPlant ScienceEcologia agrícolaHorticultureBiochemistryBiotechnologyEcologiaHorticulture research
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Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat

1997

Summary The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7–22 times in the normal population but amplified as many as > 1, 000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, such as genetic anticipation. We have analyzed the GAA repeat in 104 FA patients and 163 carrier relatives previously defined by linkage analysis. The GAA expansion was detected in all patients, most (94%) of them being ho-mozygous for the mutation. We have demonstrated that clinical variability in FA is related to the size of the expanded alleles: milder forms of the …

AtaxiaAdolescentGenetic LinkagePopulationBiologyTrinucleotide RepeatsMeiosisGenetic linkageGene duplicationGeneticsmedicineHumansGenetics(clinical)AlleleChildeducationGenetics (clinical)Geneticseducation.field_of_studyGene AmplificationPhenotypeFriedreich AtaxiaMutationMutation (genetic algorithm)Dynamic mutationmedicine.symptomResearch ArticleThe American Journal of Human Genetics
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De novoassembly of the zucchini genome reveals a whole-genome duplication associated with the origin of theCucurbitagenus

2018

Summary The Cucurbita genus (squashes, pumpkins and gourds) includes important domesticated species such as C. pepo, C. maxima and C. moschata. In this study, we present a high-quality draft of the zucchini (C. pepo) genome. The assembly has a size of 263 Mb, a scaffold N50 of 1.8 Mb and 34 240 gene models. It includes 92% of the conserved BUSCO core gene set, and it is estimated to cover 93.0% of the genome. The genome is organized in 20 pseudomolecules that represent 81.4% of the assembly, and it is integrated with a genetic map of 7718 SNPs. Despite the small genome size, three independent lines of evidence support that the C. pepo genome is the result of a whole-genome duplication: the …

0301 basic medicineSequence assemblyPlant ScienceBiologyBiotecnologiaGenome03 medical and health sciencesCucurbitaGene DuplicationGene duplicationGene familycropCucurbitagenomeGenome sizeGeneCitrullusResearch Articlesbiology.organism_classificationBiological EvolutionzucchiniCucurbitaceaeGenòmica030104 developmental biologyEvolutionary biologywhole‐genome duplicationTranscriptomeAgronomy and Crop ScienceGenome PlantResearch ArticleBiotechnologyPlant Biotechnology Journal
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996

International audience; Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

MaleIron-sulfur cluster assemblyPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsIron-Binding ProteinsGenetics0303 health sciencesMultidisciplinaryAutosomal recessive cerebellar ataxiaPedigree3. Good healthFemalemedicine.symptomChromosomes Human Pair 9HumanPair 9Heterozygotecongenital hereditary and neonatal diseases and abnormalitiesAtaxiaMolecular Sequence DataGenes RecessiveLocus (genetics)BiologyChromosomes03 medical and health sciencesGene mappingAlleles; Amino Acid Sequence; Base Sequence; Chromosomes Human Pair 9; DNA Primers; Female; Friedreich Ataxia; Genes Recessive; Heterozygote; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Proteins; Sequence Alignment; Introns; Iron-Binding Proteins; Trinucleotide RepeatsmedicineRecessiveHumansPoint MutationAmino Acid SequenceAlleleAllelesDNA Primers030304 developmental biologyBase SequencePoint mutationProteins[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologymedicine.diseaseMolecular biologyIntronsGenes[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsFriedreich AtaxiaFrataxinbiology.proteinSequence Alignment030217 neurology & neurosurgeryScience
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Genomic variation in tomato, from wild ancestors to contemporary breeding accessions

2015

[EN] Background: Domestication modifies the genomic variation of species. Quantifying this variation provides insights into the domestication process, facilitates the management of resources used by breeders and germplasm centers, and enables the design of experiments to associate traits with genes. We described and analyzed the genetic diversity of 1,008 tomato accessions including Solanum lycopersicum var. lycopersicum (SLL), S. lycopersicum var. cerasiforme (SLC), and S. pimpinellifolium (SP) that were genotyped using 7,720 SNPs. Additionally, we explored the allelic frequency of six loci affecting fruit weight and shape to infer patterns of selection. Results: Our results revealed a pat…

0106 biological sciencesGermplasm[SDV.SA]Life Sciences [q-bio]/Agricultural sciencesBreeding01 natural sciencesNucleotide diversityDomesticationtomatefréquence des allèlespérouGene FrequencyCherry tomatoequateurSolanum lycopersicumexpression du génomeFruit size genes2. Zero hungerGenetics0303 health sciencesVegetal BiologyGenomebiologytaille du fruitfood and beveragesGenomicsSolanum lycopersicum;Solanum pimpinellifolium;SolCAP array;Origin;Variability;Genome;Fruit size genes;DomesticationSolanum pimpinellifoliumAgricultural sciencesSolCAP arrayGenome PlantResearch ArticleBiotechnologyHeterozygotePolymorphism Single NucleotideEvolution Molecular03 medical and health sciencesOriginGeneticsvariabilité génomique[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyAlleleGenomesVariabilityDomestication030304 developmental biologyGenetic diversityfungiSolanum pimpinellifoliumbiology.organism_classificationFruitaGENETICAFruitSolanumSciences agricolesBiologie végétale010606 plant biology & botanyamélioration des plantes
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The transcriptome of Spodoptera exigua larvae exposed to different types of microbes.

2012

We have obtained and characterized the transcriptome of Spodoptera exigua larvae with special emphasis on pathogen-induced genes. In order to obtain a highly representative transcriptome, we have pooled RNA from diverse insect colonies, conditions and tissues. Sequenced cDNA included samples from 3 geographically different colonies. Enrichment of RNA from pathogen-related genes was accomplished by exposing larvae to different pathogenic and non-pathogenic microbial agents such as the bacteria Bacillus thuringiensis, Micrococcus luteus, and Escherichia coli, the yeast Saccharomyces cerevisiae, and the S. exigua nucleopolyhedrovirus (SeMNPV). In addition, to avoid the loss of tissue-specific …

PopulationMolecular Sequence DataBacillus thuringiensisGenes InsectSaccharomyces cerevisiaeSpodopteraSpodopteraBiochemistryPolymorphism Single NucleotideTranscriptomeINDEL MutationExiguaEscherichia coliAnimalsRNA VirusesAmino Acid SequenceeducationMolecular BiologyGeneGeneticsExpressed Sequence TagsExpressed sequence tageducation.field_of_studybiologyfungiRNARNA virusbiology.organism_classificationMicrococcus luteusInsect ScienceLarvaInsect ProteinsTranscriptomeMicrosatellite RepeatsInsect biochemistry and molecular biology
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Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population

1996

Haplotype analysis is a powerful approach to understand the spectrum of mutations accounting for a disease in a homogeneous population. We show that haplotype variation for 10 markers linked to the Friedreich ataxia locus (FRDA) argues in favor of an important mutation homogeneity in the Spanish population, and positions the FRDA locus in the region where it has been recently isolated. We also report the finding of a new single nucleotide polymorphism called FAD1. The new marker shows a very strong linkage disequilibrium with Friedreich ataxia (FA) in both the Spanish and French populations. suggesting the existence of an ancient and widespread FRDA mutations. Inclusion of FAD1 in the exten…

Genetic MarkersLinkage disequilibriumAtaxiaMolecular Sequence DataPopulationNerve Tissue ProteinsSingle-nucleotide polymorphismLocus (genetics)BiologyLinkage DisequilibriumTrinucleotide RepeatsGeneticsmedicineHumanseducationPhylogenyGenetics (clinical)Adaptor Proteins Signal TransducingGeneticseducation.field_of_studyPolymorphism GeneticBase SequenceHaplotypeIntronChromosome MappingIntronsHaplotypesFriedreich AtaxiaSpainGenetic markerMutationFrancemedicine.symptom
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An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2016

[EN] Background: Cucurbita pepo is a cucurbit with growing economic importance worldwide. Zucchini morphotype is the most important within this highly variable species. Recently, transcriptome and Simple Sequence Repeat (SSR)- and Single Nucleotide Polymorphism (SNP)-based medium density maps have been reported, however further genomic tools are needed for efficient molecular breeding in the species. Our objective is to combine currently available complete transcriptomes and the Zucchini genome sequence with high throughput genotyping methods, mapping population development and extensive phenotyping to facilitate the advance of genomic research in this species. Results: We report the Genoty…

0106 biological sciences0301 basic medicineCartographyCandidate geneGenotyping TechniquesPopulationQuantitative Trait LociGenomicsSingle-nucleotide polymorphismFlowersBiologyQuantitative trait locusGBS01 natural sciencesPolymorphism Single NucleotideCandidate genes03 medical and health sciencesCucurbitaGeneticsGens MapatgeeducationGenotyping TechniquesGeneticsMolecular breedingWhole genome sequencingeducation.field_of_studyPigmentationChromosome MappingRILfood and beveragesGenomicsCucurbita pepoGENETICAGenòmica030104 developmental biologyPhenotypePhenotypingFruitSequence Analysis010606 plant biology & botanyBiotechnologyResearch Article
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Tirant is a new member of the gypsy family of retrotransposons in Drosophila melanogaster.

2000

In this paper, we propose a consensus sequence for a putative complete Tirant retrotransposon. Several defective copies, as well as relevant sequences available in databases have been analyzed. The putative complete Tirant element is 8533 bp long, and presents all the structural features of a retroviruslike transposable element of the gypsy family. It contains three ORFs (open reading frames) that encode putative products resembling the retroviral Gag, Pol, and Env proteins. Southern blot analyses show that complete and defective Tirant elements are widespread in Drosophila melanogaster. The different hybridization patterns observed in several natural populations of this species suggest tha…

Transposable elementRetroelementsvirusesRetrotransposonGenes envOpen Reading FramesPhylogeneticsConsensus SequenceGeneticsConsensus sequenceAnimalsORFSMolecular BiologyPhylogenySouthern blotGeneticsbiologyBase SequenceTerminal Repeat SequencesGeneral Medicinebiology.organism_classificationGenes gagGenes polOpen reading frameDrosophila melanogasterDrosophila melanogasterSequence AlignmentBiotechnologyGenome
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dfh is a Drosophila homolog of the Friedreich's ataxia disease gene

2000

Abstract A putative Drosophila homolog of the Friedreich's ataxia disease gene (FRDA) has been cloned and characterized; it has been named Drosophila frataxin homolog (dfh). It is located at 8C/D position on X chromosome and is spread over 1 kb, a much smaller genomic region than the human gene. Its genomic organization is simple, with a single intron dividing the coding region into two exons. The predicted encoded product has 190 amino acids, being considered a frataxin-like protein on the basis of the sequence and secondary structure conservation when compared with human frataxin and related proteins from other eukaryotes. The closest match between the Drosophila and the human proteins in…

Signal peptideDNA ComplementaryEmbryo NonmammalianMolecular Sequence DataMutantEmbryonic DevelopmentGenes InsectExonIron-Binding ProteinsGeneticsAnimalsDrosophila ProteinsCoding regionAmino Acid SequenceRNA MessengerCloning MolecularGeneIn Situ HybridizationGenomic organizationGeneticsSequence Homology Amino AcidbiologyIntronGene Expression Regulation DevelopmentalDNAExonsSequence Analysis DNAGeneral MedicineBlotting NorthernIntronsPhosphotransferases (Alcohol Group Acceptor)Drosophila melanogasterFriedreich AtaxiaFrataxinbiology.proteinDrosophilaSequence AlignmentGene
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Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

2000

Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…

AdultHeterozygotecongenital hereditary and neonatal diseases and abnormalitiesAtaxiaGenotypeGenetic LinkageDNA Mutational AnalysisGenes RecessiveCompound heterozygosityLoss of heterozygosityTrinucleotide RepeatsIron-Binding ProteinsGenotypeGeneticsmedicineHumansPoint MutationAge of OnsetAlleleChildAllelesPolymorphism Single-Stranded ConformationalGenetics (clinical)Family HealthGeneticsbiologynutritional and metabolic diseasesmedicine.diseasePedigreePhosphotransferases (Alcohol Group Acceptor)PhenotypeFriedreich AtaxiaChild PreschoolFrataxinbiology.proteinSpinocerebellar ataxiamedicine.symptomTrinucleotide Repeat ExpansionTrinucleotide repeat expansionMicrosatellite Repeats
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ABCC transporters mediate insect resistance to multiple Bt toxins revealed by bulk segregant analysis

2014

[EN] Background: Relatively recent evidence indicates that ABCC2 transporters play a main role in the mode of action of Bacillus thuringiensis (Bt) Cry1A-type proteins. Mapping of major Cry1A resistance genes has linked resistance to the ABCC2 locus in Heliothis virescens, Plutella xylostella, Trichoplusia ni and Bombyx mori, and mutations in this gene have been found in three of these Bt-resistant strains. Results: We have used a colony of Spodoptera exigua (Xen-R) highly resistant to a Bt commercial bioinsecticide to identify regions in the S. exigua genome containing loci for major resistance genes by using bulk segregant analysis (BSA). Results reveal a region containing three genes fro…

MalePhysiologyGenes InsectPlant ScienceBt resistanceInsecticide ResistanceHemolysin ProteinsStructural BiologyBacillus thuringiensisChromosome SegregationPhylogenyGeneticsbiologyAgricultural and Biological Sciences(all)LarvaFemaleGeneral Agricultural and Biological SciencesBiotechnologyResearch ArticleMolecular Sequence DataBacillus thuringiensisSpodopteraSpodopteraABCC2 transporterPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyBacterial ProteinsExiguaAnimalsAmino Acid SequenceGeneEcology Evolution Behavior and SystematicsCrosses GeneticBombyxBacillus thuringiensis ToxinsBiochemistry Genetics and Molecular Biology(all)Gene Expression ProfilingfungiWild typeCell BiologySequence Analysis DNAbiology.organism_classificationBombyxMolecular biologyEndotoxinsKineticsGENETICACry1AcMembrane proteinATP-Binding Cassette TransportersCry toxinsDevelopmental Biology
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Additional file 5: of An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2017

Phenotypic values of RILs carrying Zucchini and Scallop alleles in the detected QTL regions. Means and standard errors of the phenotypic value of RILs belonging to the alternative allelic classes (Zuchini versus Scallop) for the markers in the LOD peak regions of each significant QTL are shown. Data of the three environments, combined and separate, are shown to validate the effects of the different QTLs (Paip2014, Paip2015, and UPV2015). (DOCX 39 kb)

food and beverages
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Additional file 2: of An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2017

Average percentage of genome covered with the GBS reads with a read depth from &gt; 1 to &gt; 20. (PPTX 713 kb)

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Additional file 1: of An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2017

Phenotyped traits in the RIL population. (DOCX 13 kb)

parasitic diseaseshemic and immune systemschemical and pharmacologic phenomenabiological factors
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Additional file 4: of An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2017

a) LOD peaks of the QTLs identified in the RIL population for vine, flowering and fruit traits. Lines represent the thresholds p 0.01 and 0.05. Results of CIM analysis with a 20 cM windows are shown for each trait. First box show QTL results with data from all the environments and the other three boxes show the QTL results for single environments Paip2014, Paip2015 and UPV2015. b) Means and errors of the phenotype of alternative allelic classes, homozygous Zucchini (AA) and homozygous Scallop (BB), are shown for each QTL, calculated with the full set of data and with the data form each environment separately. c) Genetic correlations (r x,y) between locations for each trait (*p 

food and beverages
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Additional file 6: of An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2017

List of genes underlying the significant QTLs involved in vine, flowering and fruit traits variation annotated in the last version of the C. pepo genome (v 3.2) available [13]. (XLSX 146 kb)

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Additional file 3: of An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

2017

a) Genetic map developed using the GBS approach with the RIL population derived from the cross Zucchini x Scallop. The genetic and physical position of each of the the 7,718 SNP markers (in the C. pepo genome version 3.2) is indicated and the flanking sequenced of each SNPs is also included. b) Physical position and annotation (in the C. pepo genome version 3.2) of the SNPs that showed statistically significant distorted segregation. Chi-square p-values were corrected for multiple testing using Benjamini and Yekutieli correction [36]. Distorted SNPs are integrated with the 7,718 non-distorted SNPs used for the map construction for which the genetic position is also indicated. c) Main region…

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