Glucose-6-phosphate dehydrogenase (G6PD) Guantánamo and G6PD Caujerí: Two new glucose-6-phosphate dehydrogenase-deficient variants found in Cuba

Glucose-6-phosphate dehydrogenase (G6PD) deficiency was identified in two children who were studied because of hemolytic episodes. The electrophoretic and kinetic properties of the mutant enzymes allowed us to conclude that both of them were new variants. They were named G6PD Guantánamo and G6PD Caujerí.     

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy,a retinal enhanceropathy

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Online Mendelian Inheritance in Animals (OMIA): a record of advances in animal genetics,freely available on the Internet for 25 years

For the last 25 years, Online Mendelian Inheritance in Animals (OMIA) has been providing free global access to an ever‐increasing record of discoveries made by animal geneticists around the world. To mark this 25‐year milestone, this document provides a brief account (including some pre‐history) of how OMIA came to be; some timelines of important discoveries and advances in the genetics of the animal species covered by OMIA, gleaned from the OMIA database; and an analysis of the current state of knowledge regarding likely causal variants of single‐locus traits in OMIA species, also gleaned from the OMIA database.     

Genetic diversity and population structure of Leptosphaeria maculans isolates in Western Canada

Leptosphaeria maculans is a serious concern for canola production worldwide. For effective disease management, knowledge of the pathogen's genetic variability and population structure is a prerequisite. In this study, whole-genome sequencing was performed for 162 of 1590 L. maculans isolates collected in the years 2007–2008 and 2012–2014 in Western Canada. DNA variants in genome-wide and specific regions including avirulence (Avr) genes were characterized. A total of 31,870 high-quality polymorphic DNA variants were used to study L. maculans genetic diversity and population structure. Cluster analysis showed that 150 isolates were clustered into 2 main groups and 4 subgroups by DNA variants located in either Avr or small secreted protein-encoding genes and into 2 main groups and 6 subgroups by genome-wide variants. The analysis of nucleotide diversity and differentiation also confirmed genetic variation within a population and among populations. Principal component analysis with genome-wide variants showed that the isolates collected in 2012–2014 were more genetically diverse than those collected in 2007–2008. Population structure analysis discovered three distinct sub-populations. Although isolates from Saskatchewan and Alberta were of similar genetic composition, Manitoba isolates were highly diverse. Genome-wide association study detected DNA variants in genes AvrLm4-7, Lema_T86300, and Lema_T86310 associated with the years of collection.     

Evidence for transferrin polymorphism in Spanish wild rabbits

Serum samples from 412 Spanish wild rabbits were analysed by starch and polyacrylamide gel electrophoresis. Three different transferrin (Tf) phenotypes (A, AB and B) were observed by both methods. The occurrence of two codominant alleles (TfA and TfB with frequencies of 0.89 and 0.11 respectively) at an autosomal locus (Tf) was supported by the population data on genetic equilibrium. Electrophoretic mobility differences between the Tf variants A and B could not be explained by differences in sialic acid or iron contents. Each of the two Tf variants were shown to have two sialic acid residues by neuraminidase treatment. These variants had similar affinities for iron, and iron binding did not lead to the conversion of one variant into the other.     

An investigation of five genetic loci controlling polymorphic variants in the red cells of goats*

Results of a joint study carried out in South Africa and England to search for new genetic markers in the blood of goats are presented. Haemoglobin (Hb) phenotypes were reinvestigated with the technique of isoelectric focusing; frequencies in different goat breeds are given. Anaemic Hb type A, AB and B goats all produced a Hb C with an identical electrophoretic pattern. All goats tested had identical carbonic anhydrase (CA) types, but showed polymorphism of ‘X’ protein. Preliminary results indicated that nucleoside phosphorylase (NP) may be polymorphic.     

Selection and inheritance of developmental variants of Propylea dissecta under thermal stress conditions

The present study aims to understand the influence of two thermal extremes (15 °C and 35 °C) as thermal stressors on the selected line of developmental variants (slow and fast developers) in Propylea dissecta and to compare it with the response at the optimal temperature (27 °C). The ratio of slow and fast developers within an egg batch differed with thermal extremes irrespective of F1 and F15 generations. Adult body mass got depressed after selection for control slow developers at 15 °C while it got enhanced for selected fast developers at 35 °C. More selected slow developers were found at low temperature and more selected fast developers at high temperature. Selection probably favours the enhancement of immature survival and emergence ratio which was found to be highest for selected fast developers at 35 °C and selected slow developers at 15 °C. Population level disparity on thermal confliction was observed in ladybird post selection over several generations. Therefore, we put forward that exposure thermal extremes over a long duration, causes an adaptive differentiation in thermal responses of slow and fast developers.     

Deciphering next-generation pharmacogenomics: an information technology perspective

In the post-genomic era, the rapid evolution of high-throughput genotyping technologies and the increased pace of production of genetic research data are continually prompting the development of appropriate informatics tools, systems and databases as we attempt to cope with the flood of incoming genetic information. Alongside new technologies that serve to enhance data connectivity, emerging information systems should contribute to the creation of a powerful knowledge environment for genotype-to-phenotype information in the context of translational medicine. In the area of pharmacogenomics and personalized medicine, it has become evident that database applications providing important information on the occurrence and consequences of gene variants involved in pharmacokinetics, pharmacodynamics, drug efficacy and drug toxicity will become an integral tool for researchers and medical practitioners alike. At the same time, two fundamental issues are inextricably linked to current developments, namely data sharing and data protection. Here, we discuss high-throughput and next-generation sequencing technology and its impact on pharmacogenomics research. In addition, we present advances and challenges in the field of pharmacogenomics information systems which have in turn triggered the development of an integrated electronic ‘pharmacogenomics assistant’. The system is designed to provide personalized drug recommendations based on linked genotype-to-phenotype pharmacogenomics data, as well as to support biomedical researchers in the identification of pharmacogenomics-related gene variants. The provisioned services are tuned in the framework of a single-access pharmacogenomics portal.