Genetic Marker Information Research Articles

Detection of QTLs controlling flowering in a cross-pollinated F1 population of Miscanthus sinensis

Miscanthus is a perennial rhizomatous grass belonging to Andropogoneae, which is now used as lignocellulosic biomass crop. Miscanthus has a short history of domestication, so further breeding effort for improved biomass production is needed. Flowering plays a critical role in controlling vegetative growth and physiology of plant, so this study focused on finding quantitative trait locus controlling flowering of Miscanthus for use in marker assisted breeding. A cross-pollinated M. sinensis F1 population consisted of 278 progenies was produced, transplanted to the field and assessed in their flowering traits. Julian dates of flag leaf extension, first heading, half heading, first flowering, and half flowering were assessed in 2019, the third year after transplanting when Miscanthus was well established. The average Julian dates of the flowering traits were 198±9, 224±14, 233±14, 239±15 and 253±12, respectively, and showed a proximal normal distribution. Genotype by sequencing conducted by Illumina-hiseq using leaf DNA samples revealed the genetic map consisted of 1988 SNPs with average distance of 1.35 cM. Nine QTLs controlling flowering were detected exceeded 60% of LOD score threshold. These QTLs were neighboring 16 SNP markers, 5 of which were contained in known functional genes including RGL2 (gibberellin pathway regulation). Genetic map and marker information acquired through this study, including either annotated or not annotated markers, are expected to help understand and help breeding new Miscanthus in the future with desired flowering.

Genome-Wide Association Study Reveals a QTL Region for Ashy Stem Blight Resistance in PRA154 Andean Common Bean.

Ashy stem blight (ASB) caused by Macrophomina phaseolina (Tassi) Goidanich affects the common bean (Phaseolus vulgaris L.) at all growing stages. Higher levels of resistance were observed in Andean common beans, but specific resistant quantitative trait loci (QTLs) conferring resistance to this pathogen have not been reported in this gene pool. The objectives of this research were to: (i) conduct a genome-wide association study (GWAS) and QTL mapping for resistance in the Andean breeding line PRA154; and (ii) identify single nucleotide polymorphism (SNP) markers and candidate genes for ASB resistance. Phenotyping was conducted under greenhouse conditions by inoculating the 107 F6:7 recombinant inbred lines (RILs) derived from the cross between the susceptible cultivar 'Verano' and the partial-resistant breeding line PRA154 twice with the M. phaseolina isolate PRI21. Genotyping was performed with 109,040 SNPs distributed across all 11 P. vulgaris chromosomes. A novel major QTL was located between 28,761,668 and 31,263,845 bp, extending 2.5 Mbp on chromosome Pv07, and the highest significant SNP markers were Chr07_28761668_A_G, Chr07_29131720_G_A, and Chr07_31263845_C_T with the highest LOD (more than 10 in most of the cases) and R-squared values, explaining 40% of the phenotypic variance of the PRI21 isolate. The gene Phvul.007G173900 (methylcrotonyl-CoA carboxylase alpha chain and mitochondrial 3-methylcrotonyl-CoA carboxylase 1 [MCCA]) with a size of 10,891 bp, located between 29,131,591 and 29,142,481 bp on Pv07, was identified as one candidate for ASB resistance in PRA154, and it contained Chr07_29131720_G_A. The QTL and genetic marker information could be used to assist common bean breeders to develop germplasm and cultivars with ASB resistance through molecular breeding.

High-Throughput Microsatellite Markers Development for Genetic Characterization of Emerging Sporothrix Species.

Sporotrichosis is the main subcutaneous mycosis worldwide transmitted by animal or plant vectors and often escalates to outbreaks or epidemics. The current cat-transmitted sporotrichosis driven by Sporothrix brasiliensis has become a significant public health issue in South America. Transmission dynamics remain enigmatic due to the lack of development of polymorphic markers for molecular epidemiological analysis. This study used a high-throughput mining strategy to characterize simple sequence repeat (SSR) markers from Sporothrix genomes. A total of 118,140-143,912 SSR loci were identified (82,841-98,369 unique markers), with a 3651.55-3804.65 SSR/Mb density and a majority of dinucleotides motifs (GC/CG). We developed a panel of 15 highly polymorphic SSR markers suitable for genotyping S. brasiliensis, S. schenckii, and S. globosa. PCR amplification revealed 240 alleles in 180 Sporothrix isolates with excellent polymorphic information content (PIC = 0.9101), expected heterozygosity (H = 0.9159), and discriminating power (D = 0.7127), supporting the effectiveness of SSR markers in uncovering cryptic genetic diversity. A systematic population genetic study estimated three clusters, corresponding to S. brasiliensis (population 1, n = 97), S. schenckii (population 2, n = 49), and S. globosa (population 3, n = 34), with a weak signature of mixed ancestry between populations 1 and 2 or 3 and 2. Partitioning of genetic variation via AMOVA revealed highly structured populations (ΦPT = 0.539; Nm = 0.213; p < 0.0001), with approximately equivalent genetic variability within (46%) and between (54%) populations. Analysis of SSR diversity supports Rio de Janeiro (RJ) as the center of origin for contemporary S. brasiliensis infections. The recent emergence of cat-transmitted sporotrichosis in northeastern Brazil indicates an RJ-Northeast migration resulting in founder effects during the introduction of diseased animals into sporotrichosis-free areas. Our results demonstrated high cross-species transferability, reproducibility, and informativeness of SSR genetic markers, helping dissect deep and fine-scale genetic structures and guiding decision making to mitigate the harmful effects of the expansion of cat-transmitted sporotrichosis.

Chromosomal Copy Number Variation Analysis in Pregnancy Products from Recurrent and Sporadic Miscarriage Using Next-Generation Sequencing.

Chromosomal abnormality is one of the causes of fetal miscarriage. The potential differences of fetal chromosomal abnormalities in sporadic miscarriage (SM) and recurrent miscarriage (RM) remain unclear. The purpose of this study was to investigate copy number variations (CNVs) in SM and RM to provide useful genetic guidance for pregnancy and prenatal diagnosis. Four hundred eight samples of aborted fetuses were analyzed by CNV sequencing, and further functional enrichment analysis was performed. Chromosomal abnormalities were identified in 218 (53.4%) fetuses. There were 62 cases (15.2%) with structural chromosomal abnormalities, including 41 with VUS CNVs, 8 with pathogenic CNVs (pCNVs), and 5 with likely pCNVs. Duplications or deletions of 7p22, 8p22, 8p23, and Xp22.31 were significantly more common in RM cases and therefore believed to be related to RM. A total of 289 genes were identified, and 29 different functions were enriched as potential RM candidate genes and functions, which were mainly concentrated in 4 functional categories: chemokines and chemotaxis, protease activity and protein modification, defense response to bacterial and fungal infections, and immune response. The results of this study may improve our understanding of the etiology of RM and contribute to the establishment of a population-based genetic marker information for RM.

Deep in the systematics of Camallanidae (Nematoda): using integrative taxonomy to better understand the phylogeny and consistency of diagnostic traits.

Due to conflicts between classic and molecular systematics of Camallanidae, different data types were used for the first time, to better understand the evolutionary history and taxa consistency within this family. Genetic [18S and 28S rDNA; cytochrome c oxidase subunit I (COI) mtDNA], morphological and life history traits were used to infer phylogenies using Bayesian inference, reconstructed from separated and concatenated datasets. The consistency of tree and morphological traits was evaluated using the consistency index. Characters were mapped on the trees and the phylogenetic informativeness of genetic markers was estimated. Phylogenetic informativeness of 18S provided better resolution for outer nodes, COI for inners and 28S had an intermediate profile. New sequences for two camallanid species were obtained. Phylogenies of genetic and concatenated data largely agreed, showing more divergence in the COI dataset, due to its higher mutation rate vs stable morphology for diagnosing higher taxa. No genus sustained monophyly. The lack of autapomorphy and phylogenetic proximity supported the partition of Batrachocamallanus as synonym of Procamallanus and Spirocamallanus, which should not be considered as subgenera. Although traits of buccal capsule, male tail, habitat, host and biogeographic were highly consistent, intrinsic patterns varied according to different taxa assemblages. Morphological systematics of Camallanidae, based on buccal capsule, is artificial for certain taxa.

Genotype Imputation to Improve the Cost-Efficiency of Genomic Selection in Rabbits.

Simple SummaryGenotyping costs are still the major limitation for the uptake of genomic selection by the rabbit meat industry, as a large number of genetic markers are needed for improving the prediction of breeding values by genomic data. In this study, several genotyping strategies were examined through simulation scenarios to disentangle the best feasible options of implementing genomic selection in rabbit breeding programs. Most scenarios emphasized the genotyping of candidate animals with a low Single Nucleotide Polymorphism (SNP) density platform. Imputation accuracies were high for the scenarios with ancestors genotyped at high or medium SNP-densities. However, the scenario with male ancestors genotyped at high SNP-density and only dams genotyped at medium SNP-density showed the best economically feasible strategy, taking into account the trade-off among genotyping costs, the accuracy of breeding values and response to selection. The results confirmed that by combining the imputation technique with a mindful selection of the animals to be genotyped, it is possible to achieve better performance than Best Linear Unbiased Prediction (BLUP), reducing genotyping cost at the same time.Genomic selection uses genetic marker information to predict genomic breeding values (gEBVs), and can be a suitable tool for selecting low-hereditability traits such as litter size in rabbits. However, genotyping costs in rabbits are still too high to enable genomic prediction in selective breeding programs. One method for decreasing genotyping costs is the genotype imputation, where parents are genotyped at high SNP-density (HD) and the progeny are genotyped at lower SNP-density, followed by imputation to HD. The aim of this study was to disentangle the best imputation strategies with a trade-off between genotyping costs and the accuracy of breeding values for litter size. A selection process, mimicking a commercial breeding rabbit selection program for litter size, was simulated. Two different Quantitative Trait Nucleotide (QTN) models (QTN_5 and QTN_44) were generated 36 times each. From these simulations, seven different scenarios (S1–S7) and a further replicate of the third scenario (S3_A) were created. Scenarios consist of a different combination of genotyping strategies. In these scenarios, ancestors and progeny were genotyped with a mix of three different platforms, containing 200,000, 60,000, and 600 SNPs under a cost of EUR 100, 50 and 11 per animal, respectively. Imputation accuracy (IA) was measured as a Pearson’s correlation between true genotype and imputed genotype, whilst the accuracy of gEBVs was the correlation between true breeding value and the estimated one. The relationships between IA, the accuracy of gEBVs, genotyping costs, and response to selection were examined under each QTN model. QTN_44 presented better performance, according to the results of genomic prediction, but the same ranks between scenarios remained in both QTN models. The highest IA (0.99) and the accuracy of gEBVs (0.26; QTN_44, and 0.228; QTN_5) were observed in S1 where all ancestors were genotyped at HD and progeny at medium SNP-density (MD). Nevertheless, this was the most expensive scenario compared to the others in which the progenies were genotyped at low SNP-density (LD). Scenarios with low average costs presented low IA, particularly when female ancestors were genotyped at LD (S5) or non-genotyped (S7). The S3_A, imputing whole-genomes, had the lowest accuracy of gEBVs (0.09), even worse than Best Linear Unbiased Prediction (BLUP). The best trade-off between genotyping costs and the accuracy of gEBVs (0.234; QTN_44 and 0.199) was in S6, in which dams were genotyped with MD whilst grand-dams were non-genotyped. However, this relationship would depend mainly on the distribution of QTN and SNP across the genome, suggesting further studies on the characterization of the rabbit genome in the Spanish lines. In summary, genomic selection with genotype imputation is feasible in the rabbit industry, considering only genotyping strategies with suitable IA, accuracy of gEBVs, genotyping costs, and response to selection.

A reference inventory for aquatic fauna of the Laurentian Great Lakes

The Laurentian Great Lakes encompass an expansive and diverse set of freshwater ecosystems that contain a concordantly large and diverse vertebrate and invertebrate fauna. Although numerous publications exist concerning the composition and distribution of this fauna, there is at present no single readily available resource that brings all this information together. Here, we present and describe the compilation process for a comprehensive Great Lakes aquatic fauna inventory covering fishes, reptiles, amphibians, zooplankton, mollusks, annelids, insects, mites, and various other aquatic invertebrates. Inventory entries were developed via an extensive search of literature and internet sources and are attributed with detailed nomenclature information, general lake and habitat occurrences, and supporting citations and links to life history and genetic marker information. The inventory scope is the Laurentian Great Lakes proper and their connecting rivers, and their fringing coastal wetlands and lower tributaries. Over 2200 unique taxa are contained in the inventory – 85% resolved to species and 14% to genus. The listing substantially expands previous richness estimates for invertebrates in the Great Lakes, but taxonomic resolution and spatial distribution information for them remains quite uneven. Example pattern analyses for fauna in this inventory show that aquatic vertebrates are generally more widely distributed than invertebrates, and that biodiversity is concentrated in the coastal margins. The inventory is being packaged into a public, searchable database that showcases the biodiversity of the Great Lakes aquatic fauna and can assist the research and management community in their biological investigations.

Economic evaluation of genetic markers for cow-calf operations differentiated by forage type and breed

When selecting breeding stock, the use of genetic marker information in beef cattle (Bos taurus L., and Bos indicus L.) is expected to enhance herd performance and thereby producer returns. Cattle performance data from experimental trials, tracking the single nucleotide polymorphism (SNP) P450 C994G and HSP70 CDS G2033C genotypic distributions in Angus (AA; Bos taurus), Brahman (BB; Bos indicus), and their reciprocal cross (RC) cows were investigated to determine economic performance differences when grazing endophyte infected tall fescue [Lolium arundinaceum (=Festuca arundinacea)] compared to Bermudagrass (BG; Cynodon dactylon L.) pastures. Since open cows were not culled, the study provides unique lifetime data on cow-calf breeding failure rates. These data are essential for economic comparisons of spring calving herds that were either exposed to fungal endophyte [Epichloë coenophiala (=Neotyphodium coenophialum=Acremonium coenophialum)] infected tall fescue grazing and hay (E+) or not (BG). The Forage and Cattle Analysis and Planning (FORCAP) decision support software was used to assess impact on profitability of birth weight, weaning weight, and breeding failure rate differences across treatment. Results showed that added SNP marker information did little to separate animal performance. A neural network approach also was used to assess the impact of genetic marker information to predict economic performance. Using either gene SNP, less than 5% of variation in economic returns was affected by genetic information, with the largest driver of profitability being breeding failure rate. Using the two genetic markers of this study to predict breeding failure rate showed little evidence to suggest that breeding decisions could be improved using genetic marker information. With more data, this conclusion may well change as observed least square mean differences by SNP were larger than the cost of obtaining the information but not statistically significant.

Characterization of functional traits with focus on udder health in heifers with divergent paternally inherited haplotypes on BTA18

BackgroundA major challenge in modern medicine and animal husbandry is the issue of antimicrobial resistance. One approach to solving this potential medical hazard is the selection of farm animals with less susceptibility to infectious diseases. Recent advances in functional genome analysis and quantitative genetics have opened the horizon to apply genetic marker information for efficiently identifying animals with preferential predisposition regarding health traits. The current study characterizes functional traits with a focus on udder health in dairy heifers. The animals were selected for having inherited alternative paternal haplotypes for a genomic region on Bos taurus chromosome (BTA) 18 genetically associated with divergent susceptibility to longevity and animal health, particularly mastitis.ResultsIn the first weeks of lactation, the q heifers which had inherited the unfavorable (q) paternal haplotype displayed a significantly higher number of udder quarters with very low somatic cell count (< 10,000 cells / ml) compared to their paternal half-sib sisters with the favorable (Q) paternal haplotype. This might result in impaired mammary gland sentinel function towards invading pathogens. Furthermore, across the course of the first lactation, there was indication that q half-sib heifers showed higher somatic cell counts, a surrogate trait for udder health, in whole milkings compared to their paternal half-sib sisters with the favorable (Q) paternal haplotype. Moreover, heifers with the haplotype Q had a higher feed intake and higher milk yield compared to those with the q haplotype. Results of this study indicate that differences in milk production and calculated energy balance per se are not the main drivers of the genetically determined differences between the BTA18 Q and q groups of heifers.ConclusionsThe paternally inherited haplotype from a targeted BTA18 genomic region affect somatic cell count in udder quarters during the early postpartum period and might also contribute to further aspects of animal’s health and performance traits due to indirect effects on feed intake and metabolism.

Long-read based assembly and synteny analysis of a reference Drosophila subobscura genome reveals signatures of structural evolution driven by inversions recombination-suppression effects

BackgroundDrosophila subobscura has long been a central model in evolutionary genetics. Presently, its use is hindered by the lack of a reference genome. To bridge this gap, here we used PacBio long-read technology, together with the available wealth of genetic marker information, to assemble and annotate a high-quality nuclear and complete mitochondrial genome for the species. With the obtained assembly, we performed the first synteny analysis of genome structure evolution in the subobscura subgroup.ResultsWe generated a highly-contiguous ~ 129 Mb-long nuclear genome, consisting of six pseudochromosomes corresponding to the six chromosomes of a female haploid set, and a complete 15,764 bp-long mitogenome, and provide an account of their numbers and distributions of codifying and repetitive content. All 12 identified paracentric inversion differences in the subobscura subgroup would have originated by chromosomal breakage and repair, with some associated duplications, but no evidence of direct gene disruptions by the breakpoints. Between lineages, inversion fixation rates were 10 times higher in continental D. subobscura than in the two small oceanic-island endemics D. guanche and D. madeirensis. Within D. subobscura, we found contrasting ratios of chromosomal divergence to polymorphism between the A sex chromosome and the autosomes.ConclusionsWe present the first high-quality, long-read sequencing of a D. subobscura genome. Our findings generally support genome structure evolution in this species being driven indirectly, through the inversions’ recombination-suppression effects in maintaining sets of adaptive alleles together in the face of gene flow. The resources developed will serve to further establish the subobscura subgroup as model for comparative genomics and evolutionary indicator of global change.

Mitochondrial D-loop sequence of domesticated waterfowl in Central Java: goose and muscovy duck

This study aims to determine the genetic characterization of domesticated waterfowl (goose and Muscovy duck) in Central Java based on a D-loop mtDNA gene. The D-loop gene was amplified using PCR technique by specific primer and sequenced using dideoxy termination method. Multiple alignments of D-loop gene obtained were 710 nucleotides at position 74 to 783 at the 5’ end (for goose) and 712 nucleotides at position 48 to 759 at the 5’ end (for Muscovy duck). The results of the polymorphism analysis on D-loop sequences of muscovy duck produced 3 haplotypes. In the D-loop gene of goose does not show polymorphism, with substitution at G117A. Phylogenetic trees reconstructions of goose and Muscovy duck, which was collected during this research compared with another species from Anser, Chairina and Anas was generated 2 forms of clusters. The first group consists of all kind of Muscovy duck together with Chairina moschata and Anas, while the second group consists of all geese and Anser cygnoides the other. The determination of Muscovy duck and geese identity can be distinguished from the genetic marker information. Based on the phylogenetic analysis, it can be concluded that the Muscovy duck is closely related to Chairina moschata, while geese is closely related to Anser cygnoides.

Comparison of optimization methods for core subset selection from a large collection of Mexican wheat landraces characterized by SNP markers

AbstractCore subset selection from collections hosted by seed banks, grow in importance as the number of accessions and genetic marker information rapidly increases. A data set of 20,526 single-nucleotide polymorphism (SNP) markers characterizing 7986 Mexican creole wheat landraces, was used to test 11 methods for core subset selection, through optimization criteria containing average genetic distance and genetic diversity. Allele richness was used as an additional criterion to qualify the generated core subsets. Three replications with random samples of 1500 SNP loci, each comprising a maximum of 3000 alleles, were used to perform the method evaluations through four different objective functions. The LR greedy search (LR) and LR with random first pair (LRSemi) were consistently best across all assays for maximizing the objective functions, and they performed well even for criteria not included in those functions. The Tukey's HSD (honest significant difference) multiple comparisons grouped those methods together with the sequential forward selection (SFS) and SFS with random first pair (SFSSemi) strategies as the top set of approaches. All of them are simple heuristic maximization algorithms, and outperformed two more sophisticated optimization approaches: parallel mixed replica exchange and replica exchange Monte Carlo. For their efficiency to optimize the objective functions and computing speed, the LRSemi and SFSSemi methods demonstrated to be good alternatives for core subset selection from large collections of highly homozygous accessions characterized by many biallelic markers.

A72: Particular qualities of the expression of markers of sensitivity to cytostatics at patients various solid tumours

Background To evaluate the expression of markers of sensitivity to chemotherapy in patients various solid tumors. Materials and methods The work includes paraffin blocks NSCLC patients (n = 486); CRC (n = 262); Breast cancer (n = 55); cervical cancer (n = 19); kidney (n = 35); squamous head and neck cancer (n = 15); stomach (n = 51); ovarian (n = 25); melanoma (n = 58); soft tissue sarcomas (n = 52). On our panel discussed the spectrum of expression of enzymes DPD, TP, TS, ERCC1, β-tubulin. Measurement of the expression of these genes produced by polymerase chain reaction in real time according to the method developed at the Institute of Oncology. NN Petrova. Results The combination of markers of sensitivity to fluoropyrimidine (low levels of DPD, TS, and low/high TP) was observed in patients with NSCLC in 30.9%, 41.9% in colorectal cancer, breast cancer in 31.1%, renal cell carcinona 41.1%, head and neck carcinoma in 14.3%, of gastric cancer in 42.5% melanoma in 39.5% of cases. Marker sensitivity to platinum drugs (low ERCC1) occurs in patients with NSCLC in 68.8%, 57.1% in colorectal cancer, breast cancer in 55.0%, renal cancer in 70.8% of squamous cell carcinoma of the head and neck 50, 0% of gastric cancer in 87.9% in melanoma 63.6% of cases. Marker, is an indirect measure of sensitivity to taxane drugs (low β-tubulin) in patients with NSCLC diagnosed in 72.7% of cases, in 75% of colorectal cancer, breast cancer in 66.7%, renal cancer in 92.3% of gastric cancer to 86.6%, melanoma in 73.5%. Conclusion The expression of markers in tumor tissue is heterogeneous. Significant heterogeneity of expression of predictive marker indicates on one hand the futility of the empirical approach to the choice of therapy, and on the other the need for their determination in all patients. Information about the molecular and genetic features of the tumor can afford to individualize the choice of drug. Objective data about the informativeness of molecular genetic markers can be obtained on the basis of randomized clinical trials.

Genomics in aquaculture to better understand species biology and accelerate genetic progress.

Genomics in aquaculture to better understand species biology and accelerate genetic progress.

From phenotyping towards breeding strategies: using in vivo indicator traits and genetic markers to improve meat quality in an endangered pig breed

In endangered and local pig breeds of small population sizes, production has to focus on alternative niche markets with an emphasis on specific product and meat quality traits to achieve economic competiveness. For designing breeding strategies on meat quality, an adequate performance testing scheme focussing on phenotyped selection candidates is required. For the endangered German pig breed ‘Bunte Bentheimer’ (BB), no breeding program has been designed until now, and no performance testing scheme has been implemented. For local breeds, mainly reared in small-scale production systems, a performance test based on in vivo indicator traits might be a promising alternative in order to increase genetic gain for meat quality traits. Hence, the main objective of this study was to design and evaluate breeding strategies for the improvement of meat quality within the BB breed using in vivo indicator traits and genetic markers. The in vivo indicator trait was backfat thickness measured by ultrasound (BFiv), and genetic markers were allele variants at the ryanodine receptor 1 (RYR1) locus. In total, 1116 records of production and meat quality traits were collected, including 613 in vivo ultrasound measurements and 713 carcass and meat quality records. Additionally, 700 pigs were genotyped at the RYR1 locus. Data were used (1) to estimate genetic (co)variance components for production and meat quality traits, (2) to estimate allele substitution effects at the RYR1 locus using a selective genotyping approach and (3) to evaluate breeding strategies on meat quality by combining results from quantitative-genetic and molecular-genetic approaches. Heritability for the production trait BFiv was 0.27, and 0.48 for backfat thickness measured on carcass. Estimated heritabilities for meat quality traits ranged from 0.14 for meat brightness to 0.78 for the intramuscular fat content (IMF). Genetic correlations between BFiv and IMF were higher than estimates based on carcass backfat measurements (0.39 v. 0.25). The presence of the unfavorable n allele was associated with increased electric conductivity, paler meat and higher drip loss. The allele substitution effect on IMF was unfavorable, indicating lower IMF when the n allele is present. A breeding strategy including the phenotype (BFiv) combined with genetic marker information at the RYR1 locus from the selection candidate, resulted in a 20% increase in accuracy and selection response when compared with a breeding strategy without genetic marker information.

Whole-genome analyses of lung function, height and smoking.

A joint analysis of FEV1 (forced expiratory volume after one second) and height is reported using novel methodology, as well as a single-trait analysis of smoking status. A first goal of the study was to incorporate dense genetic marker information in a random regression (Bayesian) model to quantify the relative contributions of genomic and environmental factors to the relationship between FEV1 and height. Smoking status was analysed using a probit random regression model and a second goal of the study was to estimate the genomic heritability of smoking status. Estimates of genomic heritabilities for height and FEV1 are equal to 0.47 and to 0.30, respectively. The estimates of the genomic and environmental correlations between height and FEV1 are 0.78 and 0.34, respectively. The posterior mean of the genomic heritability of smoking status is equal to 0.14 and provides evidence for the presence of genetic factors associated with the trait. Under the data augmentation strategy introduced, the joint posterior distribution of FEV1 and height factorises into two independent posterior distributions. This simplifies programming and results in excellent numerical behaviour. The approach can be readily extended for the joint analysis of an arbitrary number of traits. Details are shown in an Appendix.

Identification and molecular mapping of two soybean aphid resistance genes in soybean PI 587732

Soybean [Glycine max (L.) Merr.] continues to be plagued by the soybean aphid (Aphis glycines Matsumura: SA) in North America. New soybean resistance sources are needed to combat the four identified SA biotypes. The objectives of this study were to determine the inheritance of SA resistance in PI 587732 and to map resistance gene(s). For this study, 323 F2 and 214 F3 plants developed from crossing PI 587732 to two susceptible genotypes were challenged with three SA biotypes and evaluated with genetic markers. Choice tests showed that resistance to SA Biotype 1 in the first F2 population was controlled by a gene in the Rag1 region on chromosome 7, while resistance to SA Biotype 2 in the second population was controlled by a gene in the Rag2 region on chromosome 13. When 134 F3 plants segregating in both the Rag1 and Rag2 regions were tested with a 1:1 mixture of SA Biotypes 1 and 2, the Rag2 region and an interaction between the Rag1 and Rag2 regions were significantly associated with the resistance. Based on the results of the non-choice tests, the resistance gene in the Rag1 region in PI 587732 may be a different allele or gene from Rag1 from Dowling because the PI 587732 gene showed antibiosis type resistance to SA Biotype 2 while Rag1 from Dowling did not. The two SA resistance loci and genetic marker information from this study will be useful in increasing diversity of SA resistance sources and marker-assisted selection for soybean breeding programs.

A Sequence-Ready Physical Map of Barley Anchored Genetically by Two Million Single-Nucleotide Polymorphisms

Barley (Hordeum vulgare) is an important cereal crop and a model species for Triticeae genomics. To lay the foundation for hierarchical map-based sequencing, a genome-wide physical map of its large and complex 5.1 billion-bp genome was constructed by high-information content fingerprinting of almost 600,000 bacterial artificial chromosomes representing 14-fold haploid genome coverage. The resultant physical map comprises 9,265 contigs with a cumulative size of 4.9 Gb representing 96% of the physical length of the barley genome. The reliability of the map was verified through extensive genetic marker information and the analysis of topological networks of clone overlaps. A minimum tiling path of 66,772 minimally overlapping clones was defined that will serve as a template for hierarchical clone-by-clone map-based shotgun sequencing. We integrated whole-genome shotgun sequence data from the individuals of two mapping populations with published bacterial artificial chromosome survey sequence information to genetically anchor the physical map. This novel approach in combination with the comprehensive whole-genome shotgun sequence data sets allowed us to independently validate and improve a previously reported physical and genetic framework. The resources developed in this study will underpin fine-mapping and cloning of agronomically important genes and the assembly of a draft genome sequence.

Graphics Processing Unit–Accelerated Quantitative Trait Loci Detection

Mapping quantitative trait loci (QTL) using genetic marker information is a time-consuming analysis that has interested the mapping community in recent decades. The increasing amount of genetic marker data allows one to consider ever more precise QTL analyses while increasing the demand for computation. Part of the difficulty of detecting QTLs resides in finding appropriate critical values or threshold values, above which a QTL effect is considered significant. Different approaches exist to determine these thresholds, using either empirical methods or algebraic approximations. In this article, we present a new implementation of existing software, QTLMap, which takes advantage of the data parallel nature of the problem by offsetting heavy computations to a graphics processing unit (GPU). Developments on the GPU were implemented using Cuda technology. This new implementation performs up to 75 times faster than the previous multicore implementation, while maintaining the same results and level of precision (Double Precision) and computing both QTL values and thresholds. This speedup allows one to perform more complex analyses, such as linkage disequilibrium linkage analyses (LDLA) and multiQTL analyses, in a reasonable time frame.

Paternity exclusion power: Comparative behaviour of autosomal and X-chromosomal markers in standard and deficient cases with inbreeding

In paternity testing the informativeness of genetic markers is traditionally measured through the probability of finding, in randomly chosen individuals, inconsistencies with parent to child Mendelian rules of transmission. This statistic, called power of exclusion (PE), paternal exclusion chance or probability, can be defined for duos (mother not typed) or trios (random false fathers are matched against mother/child pairs) and performed both for autosomal and X-chromosomal markers (restricted to paternity testing involving daughters). PE is an a priori statistic, in the sense of not depending on the individual's genetic data of a case, being dependent however on the estimates of genetic markers allele (or haplotype) frequencies. We have studied the behaviour of this statistic in situations where the randomness assumption is not met, because either (a) the alleged - and false - father is related to the true one, or (b) there is a non-negligible level of background relatedness in the population. For the first case, we derived general (autosomal and X-chromosomal) PE formulas for duos and trios for any genealogy linking alleged father and child, highlighting that the PE of each marker only depends on a single kinship parameter associated with their pedigree. In this case we also estimate a lower bound for the number of extra markers needed to be analysed to achieve the same global power as for unrelated individuals. In the second situation, we demonstrate that for realistic values of the coancestry coefficient the decrease in PE due to population inbreeding is very moderate even when duos are analysed. In this work, beyond the aforementioned issues, we also discuss the suitability of assuming the pedigree father-daughter for calculating the X-PE, since X-markers are not the tool of choice in laboratorial routine when the alleged father is available for testing. Indeed, X-markers are particularly useful in situations where the alleged father is not available for testing but experts are able to type the mother or a daughter of his. Such increase of power is due to the paternal genealogies: half- and full-sisters, and grandmother-granddaughter, having a non-null X-PE even when only duos are analysed in contrast to what happens for autosomes. Algebraic expressions for these cases are also presented.