Phenotypic and genotypic variability between two Nigerian indigenous goat population

In order to estimate the future breeding potential of a livestock breed, it is necessary to estimate the level of genetic diversity within the breed. Thus, this study was conducted to determine the phenotypic and genotypic variability within the West African dwarf (WAD) goats and a non-descript goat population. The WAD goats were obtained from Bodija market Ibadan, Oyo state, while the non-descript goats were obtained from the Animal Science Departmental Farm in Zaria, Kaduna State. Random collection of tissue samples was carried out on each goat population using an all flex ear punch tissue sample collector and aliquoted into plastic tubes containing the all flex preservative. DNA extraction, amplification and sequencing were carried out at the International Livestock Research Institute (ILRI), Nairobi, Kenya. DNA was extracted from the tissue cells using the Pure Link™ Genomic DNA-minikit according to the manufacturer's specifications and protocol and 25 microsatellite markers as recommended by FAO/ISAG were used for genotyping. Twenty three of the 25 microsatellite markers used in this analysis had four or more alleles. The mean Shannon index (I), observed (Ho) and expected heterozygosity (He) and inbreeding coefficient (Fis) for the WAD goats were 1.568, 0.584, 0.679 and 0.167, respectively. For the non-descript goats, the mean Shannon index, observed and expected heterozygosity and inbreeding coefficient (Fis) were 1.607, 0.678, 0.721 and 0.041, respectively. The microsatellite markers used in this study showed their suitability for analysis of genetic variability in this population as demonstrated by the high mean Shannon index. This study has shown that these two goat populations are significantly different phenotypically and genetically. Also, both populations showed significant deviations (P<0.01) from Hardy-Weinberg expectations.

Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach

Gaucher disease (GD) is a rare autosomal recessive multisystemic lysosomal storage disorder presenting a marked phenotypic and genotypic variability. GD is caused by a deficiency in the glucocerebrosidase enzyme. The diagnosis of GD remains challenging because of the large clinical spectrum associated with the disease. Moreover, GD biomarkers are often not sensitive enough and can be subject to polymorphic variations. The main objective of this study was to perform a metabolomic study using an ultra-performance liquid chromatography system coupled to a time-of-flight mass spectrometer to identify novel GD biomarkers. Following the analysis of plasma samples from patients with GD, and age- and gender-matched control samples, supervised statistical analyses were used to find the best molecules to differentiate the two groups. Targeted biomarkers were structurally elucidated using accurate mass measurements and tandem mass spectrometry. This metabolomic study was successful in highlighting seven biomarkers associated with GD. Fragmentation tests revealed that these latter biomarkers were lyso-Gb1 (glucosylsphingosine) and four related analogs (with the following modifications on the sphingosine moiety: -C2H4, -H2, -H2+O, and +H2O), sphingosylphosphorylcholine, and N-palmitoyl-O-phosphocholineserine. Based on the plasma biomarker distribution, we suggest the evaluation of this GD biomarker profile, which might facilitate early diagnosis, monitoring, and follow-up of patients.

The role of selection in the evolution of blindness in cave fish

The forces driving regression of biologically functionless traits remain disputed. There is ongoing debate regarding whether selection, as opposed to disuse and neutral mutations, is involved in this process. Cave species are of particular relevance for study in this regard because in continuous darkness all traits that depend on information from light, such as eyes, dark pigmentation and certain behaviours, abruptly lose their function. Recently, strong selection driving reduction has again been proposed, which relied on modelling analyses based on assumptions such as immigration of surface alleles into the cave forms or no fitness difference existing between Astyanax surface and cave fish. The validity of these assumptions, often applied to reject neutral processes in functionless traits, is questioned in this review. Morphological variation in a trait resulting from genetic variability is typical of biologically functionless traits and is particularly notable in phylogenetically young cave species. It is the most evident indicator of loss of selection, which normally enforces uniformity to guarantee optimal functionality. Phenotypic and genotypic variability in Astyanax cave fish eyes does not derive from genetic introgression by the surface form, but from regressive mutations not being eliminated by selection. This matches well with the principles of Kimura’s neutral theory of molecular evolution.

Microsatellite polymorphism for molecular characterization of pomelo (Citrus maxima) accessions from Indonesia

Susandarini R, Subandiyah S, Daryono BS, Rugayah. 2020. Microsatellite polymorphism for molecular characterization of pomelo (Citrus maxima) accessions from Indonesia. Biodiversitas 21: 2390-2395. Citrus maxima (Burm.) Merr. (pomelo) as a minor fruit crop deserve attention on its phenotypic and genotypic variability to avoid the risk of extinction. Previous study showed that pomelo from Indonesia has high morphological variability, and thus it is interesting to explore its genotypic variability using molecular markers. Microsatellite is a molecular marker widely used in Citrus taxonomy studies. This study aimed at revealing microsatellite polymorphism and its potential application in cultivar characterization of C .maxima. Eighty accessions of C. maxima consisting of registered cultivars and landraces from Indonesia were used in this study. Analysis of microsatellite sequences from genomic DNA amplified using DY296883 primer showed that C. maxima microsatellite has high polymorphism in the form of repeat length variation of (GA)n, ranging from (GA)7 to (GA)19. This study proved the existence of high genotypic variability in C. maxima, and confirmed the role of microsatellite as a useful molecular marker for uncovering variability at intraspecific level. Observation of the microsatellite polymorphisms indicated that variability of (GA)n can be used to distinguish some pomelo cultivars.

Winter wheat variability according to local conditions

<p>The objectives of our experiments are the description of the phenotypic and genotypic variability by the main agriculture-value traits of the new winter wheat lines according to their interactions with different environmental conditions. Five new winter wheat lines were investigated at field experiment during three years by parameters of grain productivity and quality, uptaking of macro- and microelements and heavy metals from soil under different relief conditions.</p><p>Our investigations confirmed statement about more perspective direction for exploiting local sources for winter wheat improvement and closely relation between concentration of nutrient substances in plants, their loss from soil and peculiarities of relief, genotype and limits of adaptation. We developed high-adaptive line 213 (‘Leana’), which provides us higher than standard grain yield under all conditions. All lines showed higher grain productivity under favorable conditions than control. Variability of traits was higher under south slope conditions (unfavorable conditions) rather than on other (proper conditions). Only line 156 was identified by good protein content and composition under every condition for gliadin and glutenin components. Influence of relief on microelements and heavy metals uptake to the winter wheat plants is not so important as for macroelements and, in consequence, for grain productivity and quality.</p>

091 Cerebellar oedema in fulminant adult leigh syndrome

IntroductionWe report a case of adult Leigh syndrome resulting in rapidly fatal cerebellar oedema.CaseA 19-year-old female presented with a five-week history of hyperventilation, generalised weakness, dysarthria and bilateral ptosis. Brain Magnetic resonance imaging (MRI) findings and the presence of a mitochondrial mutation (NC_012920.1(MT-ATP6):m.9176T>C) in blood and urine with approximately 97% heteroplasmy, confirmed a diagnosis of Leigh syndrome.Two-days after a normal lumbar puncture, opening pressure 8cm water, her conscious level rapidly declined. CT revealed marked cerebellar oedema with brainstem compression. Despite immediate decompression, she did not recover consciousness and died six-weeks after symptom onset.ConclusionAdult Leigh syndrome is a progressive untreatable inherited mitochondrial disorder typically of infants and children. Adult cases are rare and described mostly in single case reports. There is marked phenotypic and genotypic variability. Over 83% of Leigh’s syndrome is identified by the age of 2 years, however, there have been cases reported in patients up to 74 years old. There are over 60 mutations described in Leigh syndrome, which are identified in only half of reported cases. Classic MRI changes include bilateral symmetric T2 hyper-intensities in the basal ganglia and brainstem. To our knowledge, this is the first reported case resulting in fulminant cerebellar oedema. A challenge of diagnosis remains the marked heterogeneity in presenting symptoms including cognitive decline, behavioural change and ophthalmoparesis. Typically, this syndrome has been confirmed by histopathology at autopsy. Advances in genetics and imaging have allowed earlier accurate diagnosis, potentially paving the way for improved therapeutics.

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.