Genome-Wide Association Studies for Sex Determination and Cross-Compatibility in Water Yam (Dioscorea alata L.)

Yam (Dioscorea spp.) species are predominantly dioecious, with male and female flowers borne on separate individuals. Cross-pollination is, therefore, essential for gene flow among and within yam species to achieve breeding objectives. Understanding genetic mechanisms underlying sex determination and cross-compatibility is crucial for planning a successful hybridization program. This study used the genome-wide association study (GWAS) approach for identifying genomic regions linked to sex and cross-compatibility in water yam (Dioscorea alata L.). We identified 54 markers linked to flower sex determination, among which 53 markers were on chromosome 6 and one on chromosome 11. Our result ascertained that D. alata is characterized by the male heterogametic sex determination system (XX/XY). The cross-compatibility indices, average crossability rate (ACR) and percentage high crossability (PHC), were controlled by loci on chromosomes 1, 6 and 17. Of the significant loci, SNPs located on chromosomes 1 and 17 were the most promising for ACR and PHC, respectively, and should be validated for use in D. alata hybridization activities to predict cross-compatibility success. A total of 61 putative gene/protein families with direct or indirect influence on plant reproduction were annotated in chromosomic regions controlling the target traits. This study provides valuable insights into the genetic control of D. alata sexual reproduction. It opens an avenue for developing genomic tools for predicting hybridization success in water yam breeding programs.

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Genome-wide Association Study Links APOEɛ4 and BACE1 Variants with Plasma Amyloid β Levels

10.1101/194266 ◽

2017 ◽

Author(s):

Vincent Chouraki ◽

Sven J van der Lee ◽

Benjamin Grenier-Boley ◽

Jeannette Simino ◽

Hieab Adams ◽

...

Keyword(s):

Genome Wide Association Study ◽

Association Studies ◽

Phase 1 ◽

Amyloid Β ◽

Genome Wide Association ◽

Genome Wide Association Studies ◽

Chromosome 11 ◽

Genome Wide ◽

App Metabolism ◽

Pathway Analyses

AbstractBackgroundAmyloid β (Aβ) peptides are the products of the catalytic processing of the Aβ precursor protein (APP) by the β-secretase, BACE1 and the γ-secretase complex. Impairment of the Aβ production/clearance balance is the major pathophysiological hypothesis in Alzheimer’s disease (AD). Plasma Aβ levels are easy to measure in large numbers and therefore can be used as an endophenotype to study the genetics of Aβ and its relevance to AD.MethodsWe performed genome-wide association studies (GWAS) of plasma Aβ1-40, Aβ1-42 and Aβ1-42/Aβ1-40 ratio in 12,369 non-demented participants across 8 studies, using genetic data imputed on the 1000 Genomes phase 1 version 3 reference panel. To gain further insight, we performed LD-score regression analysis of plasma Aβ-42 and Aβ-40 levels using previously published GWAS of AD and other related traits, and pathway analyses.ResultsWe identified 21 variants reaching genome-wide significance across two loci. The most significant locus spanned the APOE gene, with significant associations with plasma Aβ42 levels (p = 9.01×10-13) and plasma Aβ42/Aβ40 ratio (p = 6.46×10-20). The second locus was located on chromosome 11, near the BACE1 gene (p = 2.56×10-8). We also observed suggestive evidence of association (p < 1×10-5) around genes involved in Aβ metabolism including APP and PSEN2.ConclusionUsing plasma Aβ40 and Aβ42 levels, this GWAS was able to identify relevant and central actors of the APP metabolism in AD. Overall, this study strengthens the utility of plasma Aβ levels both as an endophenotype and a biomarker.

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Genome wide association mapping for agronomic, fruit quality, and root architectural traits in tomato under organic farming conditions

BMC Plant Biology ◽

10.1186/s12870-021-03271-4 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Pasquale Tripodi ◽

Salvador Soler ◽

Gabriele Campanelli ◽

María José Díez ◽

Salvatore Esposito ◽

...

Keyword(s):

Candidate Genes ◽

Fruit Quality ◽

Root Architecture ◽

Association Studies ◽

Fruit Weight ◽

Genome Wide Association ◽

Genome Wide Association Studies ◽

Chromosome 11 ◽

Genome Wide ◽

Wide Range

Abstract Background Opportunity and challenges of the agriculture scenario of the next decades will face increasing demand for secure food through approaches able to minimize the input to cultivations. Large panels of tomato varieties represent a valuable resource of traits of interest under sustainable cultivation systems and for genome-wide association studies (GWAS). For mapping loci controlling the variation of agronomic, fruit quality, and root architecture traits, we used a heterogeneous set of 244 traditional and improved tomato accessions grown under organic field trials. Here we report comprehensive phenotyping and GWAS using over 37,300 SNPs obtained through double digest restriction-site associated DNA (dd-RADseq). Results A wide range of phenotypic diversity was observed in the studied collection, with highly significant differences encountered for most traits. A variable level of heritability was observed with values up to 69% for morphological traits while, among agronomic ones, fruit weight showed values above 80%. Genotype by environment analysis highlighted the strongest genotypic effect for aboveground traits compared to root architecture, suggesting that the hypogeal part of tomato plants has been a minor objective for breeding activities. GWAS was performed by a compressed mixed linear model leading to 59 significantly associated loci, allowing the identification of novel genes related to flower and fruit characteristics. Most genomic associations fell into the region surrounding SUN, OVATE, and MYB gene families. Six flower and fruit traits were associated with a single member of the SUN family (SLSUN31) on chromosome 11, in a region involved in the increase of fruit weight, locules number, and fruit fasciation. Furthermore, additional candidate genes for soluble solids content, fruit colour and shape were found near previously reported chromosomal regions, indicating the presence of synergic and multiple linked genes underlying the variation of these traits. Conclusions Results of this study give new hints on the genetic basis of traits in underexplored germplasm grown under organic conditions, providing a framework for the development of markers linked to candidate genes of interest to be used in genomics-assisted breeding in tomato, in particular under low-input and organic cultivation conditions.

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