Research Notes : A somatic approach to soybean genetics

For the past five years, our laboratory has been attempting to establish a system of somatic cell genetics for soybean. Although our results are far from complete, they are sufficiently encouraging to suggest that such a system will be practical and that it should be possible to construct a complete genetic. map within a few years. The rapidity with which this can be done relies in part on the somatic genetics discussed in this report and in part on a molecular genetic analysis which is now underway

Use of thin plastic films at cryogenic temperatures

Commercially available plastic film materials that remain flexible at cryogenic temperatures and resist failures caused by folds and wrinkles created during expulsion were investigated for use in expulsion bladders for liquefied gases. Compatible adhesive systems, fabrication techniques, and results of impact and dynamic loading tests are summarized

Fine mapping a locus controlling leg morphology in the domestic dog

The domestic dog offers a remarkable opportunity to disentangle the genetics of complex phenotypes. Here, we explore a locus, previously identified in the Portuguese water dog (PWD), associated with PC2, a morphological principal component characterized as leg width versus leg length. The locus was initially mapped to a region of 26 Mb on canine chromosome 12 (CFA12) following a genome-wide scan. Subsequent and extensive genotyping of single-nucleotide polymorphisms (SNPs) and haplotype analysis in both the PWD and selected breeds representing phenotypic extremes of PC2 reduced the region from 26 Mb to 500 kb. The proximity of the critical interval to two collagen genes suggests that the phenotype may be controlled by cis-acting mechanisms

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses

Anemia in children aged 6–59 months was significantly associated with maternal anemia status in rural Zimbabwe

Globally, anemia is a public health problem affecting mostly women of reproductive age (WRA, n = 452) and children aged 6–59 months (n = 452) from low- and lower-middle-income countries. This cross-sectional study assessed the prevalence and determinants of anemia in WRA and children aged 6–59 months in rural Zimbabwe. The venous blood sample was measured for hemoglobin utilizing a HemoCue machine. Anthropometric indices were assessed and classified based on World Health Organization standards. Socioeconomic characteristics were assessed. The median (±inter quartile range (IQR)) age of WRA was 29 ± 12 years and that for children was 29 ± 14 months. The prevalence of anemia was 29.6% and 17.9% in children and WRA, respectively, while the median (±IQR) hemoglobin levels were 13.4 ± 1.8 and 11.7 ± 1.5 g/dl among women and children, respectively. Multiple logistic regression analysis was used to assess determinants of anemia. Anemia in children was significantly associated with maternal anemia (odds ratio (OR) = 2.02; 95% CI 1.21–3.37; p = .007) and being a boy (OR = 0.63; 95% CI 0.41–0.95; p = .029), while anemia in WRA was significantly associated with the use of unimproved dug wells as a source of drinking water (OR = 0.36; 95% CI 0.20–0.66; p = .001) and lack of agricultural land ownership (OR = 0.51; 95% CI 0.31–0.85; p = .009). Anemia is a public health problem in the study setting. The positive association between maternal and child anemia reflects the possibility of cross-generational anemia. Therefore, interventions that focus on improving preconceptual and maternal nutritional status may help to reduce anemia in low-income settings

Anemia in children aged 6-59 months was significantly associated with maternal anemia status in rural Zimbabwe.

Globally, anemia is a public health problem affecting mostly women of reproductive age (WRA, n = 452) and children aged 6–59 months (n = 452) from low- and lower-middle-income countries. This cross-sectional study assessed the prevalence and determinants of anemia in WRA and children aged 6–59 months in rural Zimbabwe. The venous blood sample was measured for hemoglobin utilizing a HemoCue machine. Anthropometric indices were assessed and classified based on World Health Organization standards. Socioeconomic characteristics were assessed. The median (±inter quartile range (IQR)) age of WRA was 29 ± 12 years and that for children was 29 ± 14 months. The prevalence of anemia was 29.6% and 17.9% in children and WRA, respectively, while the median (±IQR) hemoglobin levels were 13.4 ± 1.8 and 11.7 ± 1.5 g/dl among women and children, respectively. Multiple logistic regression analysis was used to assess determinants of anemia. Anemia in children was significantly associated with maternal anemia (odds ratio (OR) = 2.02; 95% CI 1.21–3.37; p = .007) and being a boy (OR = 0.63; 95% CI 0.41–0.95; p = .029), while anemia in WRA was significantly associated with the use of unimproved dug wells as a source of drinking water (OR = 0.36; 95% CI 0.20–0.66; p = .001) and lack of agricultural land ownership (OR = 0.51; 95% CI 0.31–0.85; p = .009). Anemia is a public health problem in the study setting. The positive association between maternal and child anemia reflects the possibility of cross-generational anemia. Therefore, interventions that focus on improving preconceptual and maternal nutritional status may help to reduce anemia in low-income settings

Miscarriage and stillbirth following maternal Zika virus infection in nonhuman primates.

Zika virus (ZIKV) infection is associated with congenital defects and pregnancy loss. Here, we found that 26% of nonhuman primates infected with Asian/American ZIKV in early gestation experienced fetal demise later in pregnancy despite showing few clinical signs of infection. Pregnancy loss due to asymptomatic ZIKV infection may therefore be a common but under-recognized adverse outcome related to maternal ZIKV infection

Assessing volcanic hazard and exposure in a data poor context: Case study for Ethiopia, Kenya, and Cabo Verde

Volcanoes produce a wide variety of hazards across varying spatial and temporal scales. When data are scarce on past eruptions and hazards, it can falsely imply low hazard recurrence and create challenges for robust hazard and risk assessment. Data quality and quantity vary considerably across different regions, volcanoes, and eruptions. Yet, there is a need for regional to global scale information on volcanic hazard and risk, where consistent and reproducible methods are applied. Such information is used by international stakeholders to inform funding priorities, risk reduction policies, and to highlight data and knowledge gaps, contributing towards the Sendai Framework's Sustainable Development Goals. Challenges in gathering this information can be most problematic where large populations are exposed to potential volcanic hazards but there are few comprehensive eruptive histories, as in sub-Saharan Africa. Here, we present a unique study to evaluate hazard and exposure for nine volcanoes in Ethiopia, Kenya and Cabo Verde, as part of an international project to develop multi-hazard Disaster Risk Country Profiles. We applied a two-stage expert elicitation process to volcanoes for the first time, and coupled the results with vent mapping, numerical hazard modelling, and GIS analysis of eight exposure categories to identify where high volcanic hazard and exposure coincide. Testing the sensitivity of our findings to input assumptions, to better understand where uncertainties lay, showed that improving our knowledge of past eruption volumes, frequencies, and dates was key to reducing uncertainty. Expert elicitations proposed that Fogo, Cabo Verde, is the most likely to erupt (eruption on average every 25 years), while Fentale (Ethiopia), Longonot and Suswa (Kenya) were elicited to have the greatest probability for a large explosive (VEI ≥ 4) eruption (on average every 400 years). Menengai and Longonot produce the larger exposure values across most VEI scenarios and categories of exposure, but population and GDP exposure was also large for more distal tephra fall and flows at Corbetti and Suswa, with order of magnitude increases expected between 2010 estimates and 2050 projections. Potentially high impact scenarios include tephra being dispersed across large cities (e.g. Nairobi, 55 km from Suswa) and key infrastructure (e.g. geothermal power station ∼2.5 km from Aluto), as well as important tourist destinations, seats of government and emergency management operations (e.g. islands east of Fogo). This study provided the first hazard and exposure assessment of its kind for these volcanoes and drew attention to volcanic risk at the levels required to inform policy and future in-country funding opportunities

A Simple Genetic Architecture Underlies Morphological Variation in Dogs

The largest genetic study to date of morphology in domestic dogs identifies genes controlling nearly 100 morphological traits and identifies important trends in phenotypic variation within this species