Novel recessive locus for body mass index in childhood asthma

Most genome-wide association studies of obesity and body mass index (BMI) have so far assumed an additive mode of inheritance in their analysis, although association testing supports a recessive effect for some of the established loci, for example, rs1421085 in FTO. In two whole-genome sequencing (WGS) studies of children with asthma and their parents (892 Costa Rican trios and 286 North American trios), we discovered an association between a locus (rs9292139) in LOC102724122 and BMI that reaches genome-wide significance under a recessive model in the combined analysis. As the association does not achieve significance under an additive model, our finding illustrates the benefits of the recessive model in WGS analyses.

Genetic Analyses of Epicuticular Waxes Associated with the Glossy Foliage of ‘White Persian’ Onion

Onion (Allium cepa) plants with lower amounts of epicuticular waxes on foliage suffer less damage from the insect pest Thrips tabaci (onion thrips). Glossy onion accumulates significantly less epicuticular wax compared with wild-type “waxy” onion, and a single recessive locus (gl) has been proposed to condition this phenotype. Genetic analyses of types and amounts of epicuticular waxes were completed using two segregating families from the cross of the glossy inbreds B9885 and B9897 (both originally selected from the onion cultivar White Persian) with waxy inbred B8667 and semiglossy (intermediate amounts of waxes) inbred B5351, respectively. F2 progenies were grown in greenhouses and scored visually for foliar phenotypes, and amounts and types of epicuticular waxes were determined using gas chromatography-mass spectrometry (GCMS). For one F2 family from the cross of glossy B9885 by waxy B8667, visually scored glossy vs. waxy foliage fit a 1:3 ratio and the phenotype mapped to chromosome 8 of onion. This same region on chromosome 8 was significantly associated with amounts of the ketone hentriacontanone-16 (H16) and fatty alcohols 1-octacosanol (Oct1) and 1-triacontanol (Tri1). Visually scored F2 progeny from the cross of glossy B9897 × semiglossy B5351 did not fit expected models for one or two recessive loci. Significant quantitative trait loci (QTL) were revealed on chromosomes 5 and 8 controlling amounts of H16. Epistasis was detected between regions on chromosomes 1 and 8, and a 100-fold increase of H16 was conditioned by homozygous genotypes for the B5351 region on chromosome 1 and the B9885 region on chromosome 8. The three QTL model explained 41% of the phenotypic variation for amounts of H16 at logarithm of odds of 16.6. Amounts of Oct1 and Tri1 in the B9897 × B5351 family were associated with a major QTL on chromosome 1, explaining 37% to 46% of the phenotypic variation, respectively. This research demonstrates that glossy foliage of ‘White Persian’ onion is conditioned by a recessive locus on chromosome 8 for which we propose the name glwp. These results are important for selection of onion with unique profiles of epicuticular waxes to reduce losses resulting from onion thrips.

A Single Locus Controls Interferon Gamma-Independent Antiretroviral Neutralizing Antibody Responses

ABSTRACTAn essential step in the development of effective antiviral humoral responses is cytokine-triggered class switch recombination resulting in the production of antibodies of a specific isotype. Most viral and parasitic infections in mice induce predominantly IgG2a-specific antibody responses that are stimulated by interferon gamma (IFN-γ). However, in some mice deficient in IFN-γ, class switching to IgG2a antibodies is relatively unaffected, indicating that another signal(s) can be generated upon viral or parasitic infections that trigger this response. Here, we found that a single recessive locus, provisionally called IFN-γ-independent IgG2a (Igii), confers the ability to produce IFN-γ-independent production of IgG2a antibodies upon retroviral infection. TheIgiilocus was mapped to chromosome 9 and was found to function in the radiation-resistant compartment. Thus, our data implicate nonhematopoietic cells in activation of antiviral antibody responses in the absence of IFN-γ.IMPORTANCEUnderstanding the signals that stimulate antibody production and class switch recombination to specific antibody isotypes is crucial for the development of novel vaccines and adjuvants. While an interferon gamma-mediated switch to the IgG2a isotype upon viral infection in mice has been well established, this investigation reveals a noncanonical, interferon gamma-independent pathway for antiretroviral antibody production and IgG2a class switch recombination that is controlled by a single recessive locus. Furthermore, this study indicates that the radiation-resistant compartment can direct antiviral antibody responses, suggesting that detection of infection by nonhematopoietic cells is involved is stimulating adaptive immunity.

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-Mb region in 3p21. Linkage analysis confirmed the region with a logarithm of the odds score of 2.7. Data from our families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21.

Relevance of the Mi23 Marker and the Potato Aphid Biology as Indicators of Tomato Plant (Solanum lycopersicum L.) Resistance to Some Pests

Relevance of the Mi23 Marker and the Potato Aphid Biology as Indicators of Tomato Plant (Solanum lycopersicumL.) Resistance to Some PestsMi-1.2gene, expressed in tomato plants, contributes to endogenous resistance against nematodes and someHemipterainsects. The aim of this study was to screen the presence of dominant/recessive locus of theMi-1.2gene in tomato cultivars with different allelic combination using Mi23 SCAR method and to assess the capacity of the local potato aphid (Macrosiphum euphorbiaeThomas) population to develop on different tomato cultivars (dominant and recessive homozygotes inMi-1.2locus). The results showed that both Mi23 marker and potato aphid performance are relevant methods in screening tomato cultivars with a different allelic combination ofMi-1.2gene. The assessment of biological potential ofM. euphorbiaeproved that, in comparison with control (tomato plants with recessive alleles ofMi-1.2gene), the aphid mortality increased 9- and 4 - fold (in the first and second experimental series, respectively) and the female longevity decreased 3 - fold when fed on tomato cvs with dominant alleles ofMi-1.2gene. Furthermore, the resistance against aphids manifests as an antibiosis mechanism in tomato plants carrying dominant alleles.