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Phenotypic variability in isogenic bacterial populations is a remarkable feature that helps them cope with external stresses, yet it is incompletely understood. This variability can stem from gene expression noise and/or the unequal partitioning of low-copy-number freely diffusing proteins during cell division. Some high-copy-number components are transiently associated with almost immobile large assemblies (hyperstructures) and may be unequally distributed, contributing to bacterial phenotypic variability. We focus on the nucleoid hyperstructure containing numerous DNA-associated proteins, including the replication initiator DnaA. Previously, we found an increasing asynchrony in the nucleoid segregation dynamics in growing E. coli cell lineages and suggested that variable replication initiation timing may be the main cause of this phenomenon. Here, we support this hypothesis revealing that DnaA/DNA variability represents a key factor leading to the enhanced asynchrony in E. coli. We followed the intra- and intercellular distribution of fluorescently tagged DnaA and histone-like HU chromosomally encoded under their native promoters. The diffusion rate of DnaA is low, corresponding to a diffusion-binding mode of mobility, but still one order faster than that of HU. The intracellular distribution of DnaA concentration is homogeneous in contrast to the significant asymmetry in the distribution of HU to the cell halves, leading to the unequal DNA content of nucleoids and DnaA/DNA ratios in future daughter compartments. Accordingly, the intercellular variabilities in HU concentration (CV = 26%) and DnaA/DNA ratio (CV = 18%) are high. The variable DnaA/DNA may cause a variable replication initiation time (initiation noise). Asynchronous initiation at different replication origins may, in turn, be the mechanism leading to the observed asymmetric intracellular DNA distribution. Our findings indicate that the feature determining the variability of the initiation time in E. coli is the DnaA/DNA ratio, rather than each of them separately. We provide a likely mechanism for the 'loss of segregation synchrony' phenomenon. [ABSTRACT FROM AUTHOR]

Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma. In this context, an integrative review was conducted to identify the genes and pathways involved, the location, size, and classes of CNVs, as well as their contribution to asthma risk, severity, control, and response to treatment. As a result of the review, 16 articles were analyzed, from different types of observational studies, such as case–control, cohort studies and genotyped-proband or trios design, that have been carried out in populations from different countries, ethnicities, and ages. Chromosomes 12 and 17 were the most studied in three publications each. CNVs located on 12 chromosomes were associated with asthma, the majority being found on chromosome 6p and 17q, of the deletion type, encompassing 30 different coding-protein genes and one pseudogene region. Six genes with CNVs were identified as significant expression quantitative locus (eQTLs) with mean expression in asthma-related tissues, such as the lung and whole blood. The phenotypic variability of asthma may hinder the clinical application of these findings, but the research shows the importance of investigating these genetic variations as possible biomarkers in asthma patients. [ABSTRACT FROM AUTHOR]

ABSTRACT Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge. New phenotypic features identified include palpebral oedema, laterally elongated eyebrows, low hanging columella and hypertrichosis. Neuropsychological assessment reveals a predominance of mild to moderate ID, with cognitive profiles showing variability in verbal and visual processing. Structural abnormalities such as agenesis of the corpus callosum and ocular defects were noted, consistent with previous studies but with some differences. Familial analysis revealed variability in clinical expression. Our findings highlight the diverse clinical manifestations of BRPF1‐related disorders and suggest that comprehensive ophthalmological evaluation is essential for the management of these patients. [ABSTRACT FROM AUTHOR]

Niemann–Pick type C (NPC) is a lysosomal storage disorder (LSD) caused by pathogenic variants in either the NPC1 or NPC2 genes, which encode proteins involved in the lysosomal export of unesterified cholesterol. In patients of Western European descent, the p.Ile1061Thr variant in NPC1 is especially prevalent. However, mounting evidence has positioned p.Ala1035Val as the most common variant in Portugal and the second most prevalent variant worldwide. By analyzing 10 Portuguese NPC patients homozygous for p.Ala1035Val, we found an SNP in cis on position 858 (p.Ile858Val), which we hypothesize could have a disease-modifying effect. To address this query, we created variant-specific in vitro models of NPC by stably transducing NPC1−/− ARPE-19 cells with constructs encoding different fluorescently-tagged variants of NPC1, which we used, alongside patient-derived skin fibroblasts, to investigate lysosomal positioning and the trafficking routes elicited by p.Ile1061Thr and p.Ala1035Val (with and without the p.Ile858Val SNP in cis). Our results corroborate the previously described decrease in p.Ile1061Thr-NPC1 trafficking to the lysosome and suggest a similar, if not worse, scenario for the p.Ala1035Val variant, especially when in cis with p.Ile858Val. This is the first reported functional study addressing the impact of the p.Ala1035Val variant at the cellular level, paving the way for novel therapeutic options. [ABSTRACT FROM AUTHOR]

Sea beet (Beta vulgaris L. subsp. maritima (L.) Arcang.) is a wild member of the Amaranthaceae family and a progenitor for all the cultivated beets (Beta vulgaris subsp. vulgaris). It is a source of stress-resistant genes, contributing 21 valuable traits to sugar beet through multiple breeding approaches. Despite its importance, the core morphological diversity of sea beet within the Egyptian Mediterranean coastal region has not yet been thoroughly explored. The field observations indicated notable morphological diversity among sea beet populations. This study investigated the morphological diversity of six sea beet populations along with their associated soil and climatic conditions in their primary habitats. Our morphometric investigations identified two varieties: Beta vulgaris subsp. maritima var. glabra, characterized by glabrous, erect, larger basal leaves, and Beta vulgaris subsp. maritima var. pilosa, distinguished by its hairy, prostrate form with smaller basal leaves. These varieties exhibited differences in their spatial distribution, showing high variations at the inter- and intra-population levels as well as the variety level. Soil parameters significantly influenced population morphological variability, which demonstrated a strong positive correlation with soil organic carbon. Our results highlight the need for precise survey and molecular characterization to secure these potential genetic resources from alteration and loss, especially in coastal habitats that are particularly sensitive to future climate change. [ABSTRACT FROM AUTHOR]

Developing spatially explicit assessment and management techniques that engage stakeholder behaviour has been an enduring priority for fisheries targeting benthic marine invertebrates like abalone. This study describes the basis of 'Shellogy'; a concept with the potential to empower reef-scaled management by using shell morphology to qualitatively evaluate abalone populations and their variability. The premise of shellogy is that a range of shell characteristics, previously established as distinguishing between populations with differing life history parameters, are also indicative of relative age and stage of maturation. Using the analysis of existing data, literature synthesis and illustrations, together with simulation of length frequency histograms, this study establishes from first principles that the morphometric ratios of abalone shells, along with superficial internal and external shell characteristics, change predictably with age and maturation. This study explains how recognising the connection between shell shape, and relative age and maturity, enables the appearance of shells in populations and catches, to be used to inform qualitative reef-scale assessment and facilitate stakeholder engagement with reef-scale management initiatives. [ABSTRACT FROM AUTHOR]

Abstract Background Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1. Methods We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis. Results The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations. Conclusions This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies.

To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and SETBP1‐related disorders (SETBP1‐RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1‐HD and 5 with SETBP1‐RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1‐HD and SETBP1‐RD exhibited neurological impairments including intellectual disability/developmental delay (IDD), attention‐deficit/hyperactivity disorder, autism spectrum disorder, and/or seizures, as well as speech and language delays. While restricted interests and repetitive behaviors present challenges, a relative strength was observed in social motivation within both cohorts. Individuals with SETBP1‐RD reported a risk for heart issues and compared to SETBP1‐HD greater risks for orthopedic and somatic issues with greater difficulty in bowel control. Higher rates for neonatal feeding difficulties and febrile seizures were reported for individuals with SETBP1‐HD. Additional prominent characteristics included sleep, vision, and gastrointestinal issues, hypotonia, and high pain tolerance. This characterization of phenotypic overlap (IDD, speech challenges, autistic, and attention deficit traits) and differentiation (somatic and heart issue risks for SETBP1‐RD) between the distinct neurodevelopmental disorders SETBP1‐HD and SETBP1‐RD is critical for medical management and diagnosis. [ABSTRACT FROM AUTHOR]

Turkey oak (Quercus cerris L.) is a deciduous tree species of the genus Quercus section Cerris (Fagaceae), widely distributed in Europe and Asia Minor. Throughout its vast distribution range, the species carries high phenotypic and genetic variability. Due to its high drought tolerance, Turkey oak may have great potential to be a key tree species in Central and Western Europe under climate change conditions. However, more detailed information on its phylogeny, phylogeography, phenotypic, and genetic variability is still needed for a more careful and reliable assessment of the species' adaptation potential. To this end, based on 41 reviewed articles, we collected detailed information to support the evaluation of Turkey oak's adaptation potential under climate change. In the reviewed articles, we observed a significantly lower number of genetic studies of the members of the section Cerris (especially the Euro-Mediterranean species) relative to the subgenus Quercus. We also identified research gaps with respect to the functional and population genetics of the species that should be addressed in the future. Nevertheless, the different evolutionary background and adaptation strategies of Turkey oak as compared to Central European white oaks, as well as its high phenotypic and genetic variability, may indeed represent a great potential for this species to support the climate adaptation of forestry in Central and Western Europe. [ABSTRACT FROM AUTHOR]

Previous research has highlighted significant phenotypic discrepancies between knockout and knockdown approaches in zebrafish, raising concerns about the reliability of these methods. However, our study suggests that these differences are not as pronounced as was once believed. By carefully examining the roles of maternal and zygotic gene contributions, we demonstrate that these factors significantly influence phenotypic outcomes, often accounting for the observed discrepancies. Our findings emphasize that morpholinos, despite their potential off-target effects, can be effective tools when used with rigorous controls. We introduce the concept of graded maternal contribution, which explains how the uneven distribution of maternal mRNA and proteins during gametogenesis impacts phenotypic variability. Our research categorizes genes into three types—susceptible, immune, and "Schrödinger" (conditional)—based on their phenotypic expression and interaction with genetic compensation mechanisms. This distinction provides new insights into the paradoxical outcomes observed in genetic studies. Ultimately, our work underscores the importance of considering both maternal and zygotic contributions, alongside rigorous experimental controls, to accurately interpret gene function and the mechanisms underlying disease. This study advocates for the continued use of morpholinos in conjunction with advanced genetic tools like CRISPR/Cas9, stressing the need for a meticulous experimental design to optimize the utility of zebrafish in genetic research and therapeutic development. [ABSTRACT FROM AUTHOR]

Hereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively debilitating disease characterized by the deposition of transthyretin (TTR) amyloid fibrils in various organs and tissues, most commonly in the heart and peripheral nerves. This pathological deposition can lead to significant organ dysfunction and, ultimately, organ failure. ATTRv amyloidosis exhibits a broad range of clinical presentations, from purely neurological symptoms to purely cardiac manifestations, as well as mixed phenotypes which result from both neurological and cardiac implications. This wide phenotypical spectrum realistically challenges disease diagnosis and prognosis, especially in individuals without or with an unknown family history. Multiple factors are thought to contribute to this variability, including genetic, epigenetic, and even environmental influences. Understanding these factors is crucial, as they can significantly affect disease expression and progression. This review aims to summarize each of these contributing factors, to help elucidate the current knowledge on the phenotypical variability of ATTRv amyloidosis. [ABSTRACT FROM AUTHOR]

Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM. In this study, we present six patients from four unrelated families affected by VCPDM. Our observations include patients exhibiting both the typical phenotype associated with MATR3-related distal myopathy and rare symptomatic manifestations of the disease. Notably, two cases presented with an asymmetric scapuloperoneal phenotype, leading in one case to an initial misdiagnosis of facioscapulohumeral muscular dystrophy. [ABSTRACT FROM AUTHOR]

Background: Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1. Methods: We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis. Results: The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations. Conclusions: This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies. [ABSTRACT FROM AUTHOR]

Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype–phenotype correlation in patients with THD and candidate variants in DUOX2. A total of 31 (19.38%) patients from the Catalan Neonatal Screening Program presented with variants in DUOX2 that could explain their phenotype. Fifteen (48.39%) patients were compound heterozygous, 10 (32.26%) heterozygous, and 4 (12.90%) homozygous. In addition, 8 (26.67%) of these patients presented variants in other genes. A total of 35 variants were described, 10 (28.57%) of these variants have not been previously reported in literature. The most frequent variant in our cohort was c.2895_2898del/p.(Phe966SerfsTer29), classified as pathogenic according to reported functional studies. The final diagnosis of this cohort was permanent THD in 21 patients and transient THD in 10, according to reevaluation and/or need for treatment with levothyroxine. A clear genotype–phenotype correlation could not be identified; therefore, functional studies are necessary to confirm the pathogenicity of the variants. [ABSTRACT FROM AUTHOR]

Background: FBPase deficiency as an autosomal recessive disorder is due pathogenic variants in the FBP1 gene. It usually presents with hyperlactic acidemia and hypoglycaemia starting from early childhood. Here, genotypes and phenotypes of all reported patients and their distributions are presented. In addition, we present an Iranian family with two affected children presenting with unusual symptoms due to pathogenic variants in the FBP1 gene.Clinical evaluations and laboratory assessments were performed for the affected members. Whole exome sequencing (WES) was applied in order to find the causal variant. In addition to segregation analysis within the family, variant pathogenicity analyses and predictions were done via bioinformatics tools and according to ACMG guidelines. The genotypes and detailed clinical features were documented for all patients. Results: The study included a population of 104 patients with different variants of the FBP1 gene; 75 were homozygotes. The average age of onset was 14.97 months. The most frequent clinical features were metabolic acidosis (71 cases), hypoglycemia (70 cases), vomiting (46 cases), hyperuricemia (37 cases), and respiratory distress (25 cases). 74 families were from Asia. The most common genotypes were c.841G > A/c.841G > A and c.472C > T/c.472C > T. WES test showed a pathogenic homozygous variant, c.472C > T in two cases of a family: a six-and-a-half-year-old girl with an older brother with different symptoms. All laboratory evaluations in the patient were normal except for the blood sugar. The patient experienced her first hypoglycemic episode at age 3. Conclusions: This is an unusual presentation of FBPase deficiency with intrafamilial phenotypic variability.

Abstract The root system distribution of coffee, especially Coffea canephora cv. Robusta, remains poorly characterized. The aim of this study were: (i) to analyze the distribution of the root system in various genotypes of C. canephora cv. Robusta cultivated in the Amazon region; (ii) to evaluate genetic variability based on root traits; and (iii) to test the correlation between root traits, aboveground part, and production capacity. Roots were collected up to a depth of 60 cm and 30 cm away from the stems. The roots were washed, scanned, and processed to quantify root volume (mm3 cm−3), surface area (mm2 cm−3), diameter (mm), and length (mm cm−3). The variations in root systems reveled phenotypic variability among different genotypes of C. canephora cv. Robusta. Most roots were concentrated in the surface layer of the soil (0–30 cm), with LB015 standing out. At a depth of 50–60 cm, AS10, AS4, A106, and GJ08 had more roots than other genotypes, suggesting a promising capacity to avoid drought. There were significant negative correlations between root traits, aboveground part, and production capacity. This study provides valuable information for the selection of genotypes with desirable root traits for different environmental conditions, contributing to the improvement of management practices and breeding programs for Robusta coffee.

The root system distribution of coffee, especially Coffea canephora cv. Robusta, remains poorly characterized. The aim of this study were: (i) to analyze the distribution of the root system in various genotypes of C. canephora cv. Robusta cultivated in the Amazon region; (ii) to evaluate genetic variability based on root traits; and (iii) to test the correlation between root traits, aboveground part, and production capacity. Roots were collected up to a depth of 60 cm and 30 cm away from the stems. The roots were washed, scanned, and processed to quantify root volume (mm3 cm−3), surface area (mm2 cm−3), diameter (mm), and length (mm cm−3). The variations in root systems reveled phenotypic variability among different genotypes of C. canephora cv. Robusta. Most roots were concentrated in the surface layer of the soil (0–30 cm), with LB015 standing out. At a depth of 50–60 cm, AS10, AS4, A106, and GJ08 had more roots than other genotypes, suggesting a promising capacity to avoid drought. There were significant negative correlations between root traits, aboveground part, and production capacity. This study provides valuable information for the selection of genotypes with desirable root traits for different environmental conditions, contributing to the improvement of management practices and breeding programs for Robusta coffee. [ABSTRACT FROM AUTHOR]

The cultivation of the criollo pocket melon (Cucumis melo L.) has received little attention in agronomic research, despite its productive potential and its remarkable phenotypic diversity. Its fruits show phenological, morphological and organoleptic differences that offer an opportunity for genetic improvement of the Criollo variety, which is necessary because it has lower yields than other imported varieties and hybrids. In order to evaluate the potential of a selected population in the improvement of agronomically important traits, recombinant individuals from a selected population (Ps) were evaluated against individuals from the original population (Po) of the Dudaim variety, under a randomized complete block design with two treatments and three replications in two different locations in the canton of Palenque, Province of Los Ríos, Ecuador. According to statistical comparisons, the selected population showed significantly higher mean values than the original population (p=0,05) in 7 of the 9 fruit traits evaluated, showing high genetic variability and high heritability in a broad sense for traits related to fruit quality. The studies allow us to conclude that there is a high potential to achieve genetic gains by selection, especially for fruit weight, total soluble solids and fruit yield traits. The studies allow us to conclude that there is a high potential to achieve genetic gains by selection, especially for fruit weight, total soluble solids and yield per hectare. [ABSTRACT FROM AUTHOR]

The endemic Diospyros celebica and widely spread D. blancoi are two valuable species of Diospyros (the genus of persimmons and ebonies) that have been conserved at botanic gardens in Indonesia. Understanding the biological contrasts between endemic and widely spread species is essential for plant conservation. This study aims to compare the phenotypic and estimated genetic variability between the endemic D. celebica and the widely spread D. blancoi to support their conservation. Fifty-three morphological characters from fifteen selected living plant specimens at Purwodadi Botanic Garden were measured directly or using variable encoding methods. Unpaired two-samples Wilcoxon test and hierarchical cluster analysis were used to compare morphological variations between both species. Further, genetic variabilities were estimated from encoded morphological characters using GenAlEx 6.503 software. The two Diospyros' morphological characters were significantly different, except for the lamina length, pairs of leaf vein, number of flowers in each inflorescence, and the fruit sulci presence. The cluster analysis successfully distinguished D. celebica from D. blancoi according to thirteen comparable morphological characters. The endemic D. celebica has lower genetic variability (female/bisexual %P = 86.21%, He = 0.259, uHe = 0.277; male P = 54.29%, He = 0.195, uHe = 0.234) than the widely spread D. blancoi (female/bisexual %P = 86.76, He = 0.311, uHe = 0.355). Due to the importance of genetic diversity in plant conservation, both species' population size needs to be maintained, if not increased, to preserve the existing phenotypic and genetic variabilities within the cultivated populations at the botanic garden. [ABSTRACT FROM AUTHOR]

Tree species’ ability to persist within their current distribution ranges is determined by seed germination and seedling growth. Exploring variation in these traits in relation to climatic conditions helps to understand and predict tree population dynamics, and to support species management and conservation under future climate. We analyzed seeds and seedlings of 26 European beech populations from the northeastern boundary of the species range to test whether: 1) adaptation to climatic conditions is reflected in depth of dormancy and germination of seeds; 2) climatic characteristics of origin predictably affect seedling traits. The variation in seed dormancy and germination in a laboratory test, and seedling growth and morphology traits in a nursery common-garden test was examined. Populations originating from warmer and drier sites (mostly from the northern region), compared to those from the opposite end of climatic gradient, germinated later, with a lower success, and produced seedlings with shorter and tougher roots. They had deeper dormancy and poorer seed germination capacity, and are likely more vulnerable to environmental changes. The climatic conditions at the origin shape the intraspecific variation of seed germination and seedling traits, and may limit regeneration from seed and affect adaptation potential of beech to increasing temperatures and decreasing precipitation. [ABSTRACT FROM AUTHOR]

The ability to balance the allocation of resources between growth and reproduction as a response to stress factors, can be an advantage for plants in disturbed environments. Invasive alien plants (IAPs) often show high levels of phenotypic variability in resource allocation, a key trait that plays a crucial role in their success to invade new areas. Control management for IAPs must consider this capacity in the development of effective strategies. In this study, we performed continuous measures of leaf growth and reproductive traits of Cortaderia selloana, an IAP of global concern, and applied generalised linear models (GLMs) to evaluate trade‐offs between vegetative growth, leaf composition and reproductive success at different cutting moments. Cutting moment, but not flowering, affected the length of the vegetative growth period (VGP) and average growth rate (AGR), and the interaction with flowering affected AGR and final leaf length (vegetative growth total, VGT). Specific leaf area (SLA), leaf nitrogen (N) content and the isotopic value of δ13C were affected by cutting, and N was also affected by flowering and the interaction with cutting time. Silica also showed a negative correlation with leaf carbon (C) depicting a trade‐off between both structural components. Cortaderia selloana successfully adapted its leaf growth and composition to cutting moment, but this was also modulated by flowering. Moreover, the species is dioecious, and its response may differ between female and hermaphroditic plants. This suggests flexible trade‐offs in resource allocation, therefore the time for cutting must be precisely scheduled to suppress flowering. [ABSTRACT FROM AUTHOR]

Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that encode the ATP-sensitive potassium channel (KATP). We present the correlation between genetic heterogeneity and the variable phenotype in patients with early-onset HH caused by ABCC8 gene mutations. In the first patient, who presented persistent severe hypoglycemia since the first day of life, molecular genetic testing revealed the presence of a homozygous mutation in the ABCC8 gene [deletion in the ABCC8 gene c.(2390+1_2391-1)_(3329+1_3330-1)del] that correlated with a diffuse form of hyperinsulinism (the parents being healthy heterozygous carriers). In the second patient, the onset was on the third day of life with severe hypoglycemia, and genetic testing identified a heterozygous mutation in the ABCC8 gene c.1792C>T (p.Arg598*) inherited on the paternal line, which led to the diagnosis of the focal form of hyperinsulinism. To locate the focal lesions, (18)F-DOPA (3,4-dihydroxy-6-[18F]fluoro-L-phenylalanine) positron emission tomography/computed tomography (PET/CT) was recommended (an investigation that cannot be carried out in the country), but the parents refused to carry out the investigation abroad. In this case, early surgical treatment could have been curative. In addition, the second child also presented secondary adrenal insufficiency requiring replacement therapy. At the same time, she developed early recurrent seizures that required antiepileptic treatment. We emphasize the importance of molecular genetic testing for diagnosis, management and genetic counseling in patients with HH. [ABSTRACT FROM AUTHOR]

Purpose Methods Results Conclusion To report clinical and genetic characteristics of familial exudative vitreoretinopathy (FEVR) in the Finnish population.Detailed clinical and genetic data of 35 individuals with heterozygous pathogenic variants in FZD4 were gathered and analysed.Thirty‐two individuals with FZD4 c.313A>G variant and three individuals with FZD4 c.40_49del were included in the study. The clinical phenotype was variable even among family members with the same FZD4 variant. Only 34% (N = 12/35) of variant‐positive individuals had been clinically diagnosed with FEVR. The median age of the onset of symptoms was 2.3 years, ranging between 0 to 25 years. Median visual acuity was 0.1 logMAR (0.8 Snellen decimal), ranging between light perception and −0.1 logMAR (1.25 Snellen decimal). Most (N = 33/35, 94%) were classified as not visually impaired. Despite unilateral visual loss present in some, they did not meet the criteria of visual impairment according to the WHO classification. Two study patients (N = 2/35, 6%) had severe visual impairment. The most common FEVR stage in study patient's eyes (N = 28/70 eyes, 40%) was FEVR stage 1, that is, avascular periphery or abnormal vascularisation. Most of FZD4‐variant‐positive study patient's eyes (N = 31/50 eyes, 62%) were myopic. Two individuals presented with persistent hyperplastic primary vitreous expanding the phenotypic spectrum of FEVR. Shared haplotypes extending approximately 0.9 Mb around the recurrent FZD4 c.313A>G variant were identified.Most study patients were unaffected or had mild clinical manifestations by FEVR. Myopia seemed to be overly common in FZD4‐variant‐positive individuals. [ABSTRACT FROM AUTHOR]

A novel rare mutation in the pore region of Nav1.5 channels (p.L889V) has been found in three unrelated Spanish families that produces quite diverse phenotypic manifestations (Brugada syndrome, conduction disease, dilated cardiomyopathy, sinus node dysfunction, etc.) with variable penetrance among families. We clinically characterized the carriers and recorded the Na+ current (INa) generated by p.L889V and native (WT) Nav1.5 channels, alone or in combination, to obtain further insight into the genotypic–phenotypic relationships in patients carrying SCN5A mutations and in the molecular determinants of the Nav1.5 channel function. The variant produced a strong dominant negative effect (DNE) since the peak INa generated by p.L889V channels expressed in Chinese hamster ovary cells, either alone (−69.4 ± 9.0 pA/pF) or in combination with WT (−62.2 ± 14.6 pA/pF), was significantly (n ≥ 17, p < 0.05) reduced compared to that generated by WT channels alone (−199.1 ± 44.1 pA/pF). The mutation shifted the voltage dependence of channel activation and inactivation to depolarized potentials, did not modify the density of the late component of INa, slightly decreased the peak window current, accelerated the recovery from fast and slow inactivation, and slowed the induction kinetics of slow inactivation, decreasing the fraction of channels entering this inactivated state. The membrane expression of p.L889V channels was low, and in silico molecular experiments demonstrated profound alterations in the disposition of the pore region of the mutated channels. Despite the mutation producing a marked DNE and reduction in the INa and being located in a critical domain of the channel, its penetrance and expressivity are quite variable among the carriers. Our results reinforce the argument that the incomplete penetrance and phenotypic variability of SCN5A loss-of-function mutations are the result of a combination of multiple factors, making it difficult to predict their expressivity in the carriers despite the combination of clinical, genetic, and functional studies. [ABSTRACT FROM AUTHOR]

Alport Syndrome (AS) is the most common genetic glomerular disease, and it is caused by COL4A3, COL4A4, and COL4A5 pathogenic variants. The classic phenotypic spectrum associated with AS ranges from isolated hematuria to chronic kidney disease (CKD) with extrarenal abnormalities. Atypical presentation of the disorder is possible, and it can mislead the diagnosis. Polycystic kidney disease (PKD), which is most frequently associated with Autosomal Dominant PKD (ADPKD) due to PKD1 and PKD2 heterozygous variants, is emerging as a possible clinical manifestation in COL4A3-A5 patients. We describe a COL4A5 novel familial frameshift variant (NM_000495.5: c.1095dup p.(Leu366ValfsTer45)), which was associated with AS and PKD in the hemizygous proband, as well as with PKD, IgA glomerulonephritis and focal segmental glomerulosclerosis (FSGS) in the heterozygous mother. Establishing the diagnosis of AS can sometimes be difficult, especially in the context of misleading family history and atypical phenotypic features. This case study supports the emerging genotypic and phenotypic heterogeneity in COL4A3-A5-associated disorders, as well as the recently described association between PKD and collagen type IV (Col4) defects. We highlight the importance of the accurate phenotyping of all family members and the relevance of next-generation sequencing in the differential diagnosis of hereditary kidney disease. [ABSTRACT FROM AUTHOR]

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Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM. In this study, we present six patients from four unrelated families affected by VCPDM. Our observations include patients exhibiting both the typical phenotype associated with MATR3-related distal myopathy and rare symptomatic manifestations of the disease. Notably, two cases presented with an asymmetric scapuloperoneal phenotype, leading in one case to an initial misdiagnosis of facioscapulohumeral muscular dystrophy.

Sea beet (Beta vulgaris L. subsp. maritima (L.) Arcang.) is a wild member of the Amaranthaceae family and a progenitor for all the cultivated beets (Beta vulgaris subsp. vulgaris). It is a source of stress-resistant genes, contributing 21 valuable traits to sugar beet through multiple breeding approaches. Despite its importance, the core morphological diversity of sea beet within the Egyptian Mediterranean coastal region has not yet been thoroughly explored. The field observations indicated notable morphological diversity among sea beet populations. This study investigated the morphological diversity of six sea beet populations along with their associated soil and climatic conditions in their primary habitats. Our morphometric investigations identified two varieties: Beta vulgaris subsp. maritima var. glabra, characterized by glabrous, erect, larger basal leaves, and Beta vulgaris subsp. maritima var. pilosa, distinguished by its hairy, prostrate form with smaller basal leaves. These varieties exhibited differences in their spatial distribution, showing high variations at the inter- and intra-population levels as well as the variety level. Soil parameters significantly influenced population morphological variability, which demonstrated a strong positive correlation with soil organic carbon. Our results highlight the need for precise survey and molecular characterization to secure these potential genetic resources from alteration and loss, especially in coastal habitats that are particularly sensitive to future climate change.

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with distinct facial features, growth limitations, and limb anomalies. Its broad clinical spectrum presents significant challenges in pediatric diagnosis and management. Due to cohesin complex mutations, the disorder's variable presentation requires extensive research to refine care and improve outcomes. This article provides a case series review of pediatric CdLS patients alongside a comprehensive literature review, exploring clinical variability and the relationship between genotypic changes and phenotypic outcomes. It also discusses the evolution of diagnostic and therapeutic techniques, emphasizing innovations in genetic testing, including detecting mosaicism and novel genetic variations. The aim is to synthesize case studies with current research to advance our understanding of CdLS and the effectiveness of management strategies in pediatric healthcare. This work highlights the need for an integrated, evidence-based approach to diagnosis and treatment. It aims to fill existing research gaps and advocate for holistic care protocols and tailored treatment plans for CdLS patients, ultimately improving their quality of life. [ABSTRACT FROM AUTHOR]

Genetically associated phenotypic variability has been widely observed across organisms and traits, including in humans. Both gene-gene and gene-environment interactions can lead to an increase in genetically associated phenotypic variability. Therefore, detecting the underlying genetic variants, or variance Quantitative Trait Loci (vQTLs), can provide novel insights into complex traits. Established approaches to detect vQTLs apply different methodologies from variance-only approaches to mean-variance joint tests, but a comprehensive comparison of these methods is lacking. Here, we review available methods to detect vQTLs in humans, carry out a simulation study to assess their performance under different biological scenarios of gene-environment interactions, and apply the optimal approaches for vQTL identification to gene expression data. Overall, with a minor allele frequency (MAF) of less than 0.2, the squared residual value linear model (SVLM) and the deviation regression model (DRM) are optimal when the data follow normal and non-normal distributions, respectively. In addition, the Brown–Forsythe (BF) test is one of the optimal methods when the MAF is 0.2 or larger, irrespective of phenotype distribution. Additionally, a larger sample size and more balanced sample distribution in different exposure categories increase the power of BF, SVLM, and DRM. Our results highlight vQTL detection methods that perform optimally under realistic simulation settings and show that their relative performance depends on the phenotype distribution, allele frequency, sample size, and the type of exposure in the interaction model underlying the vQTL. [ABSTRACT FROM AUTHOR]

Cassava (Manihot esculenta Crantz) is a key industrial crop in Southeast Asia and a staple for food security in Africa, owing to its resilience and efficiency in starch production. This study aims to unravel the genetic determinants of specific cassava root crown traits, utilizing 3D modeling for yield-related attributes and root crown morphology. Phenotypic analysis of 130 partially inbred lines and their six parental lines from Thai commercial varieties revealed a range of root traits within populations showcasing robust correlations among various traits, particularly root size parameters and root weight. Genotyping-by-sequencing yielded a total of 29,361 SNP markers identified within the nuclear genome of cassava and shared across all genotypes. Genome-Wide Association Studies (GWAS) of these 136 genotypes identified 23 significant SNPs for six out of 11 root crown traits, including 3D root angle, 3D surface area, root number, 3D crown diameter, root weight, and 3D volume. We found one shared significant SNP between 3D crown diameter and root weight, and another shared SNP between root weight and 3D volume. Two closely linked SNPs were identified for 3D volume, root weight, and 3D surface area. Linkage disequilibrium (LD) analysis for each pair of SNP markers indicated the linkage decay point at approximately 60 kb. Based on LD decay and available transcriptome data, candidate gene identification highlighted 29 genes associated with five traits, providing an understanding of the genetic basis of cassava root crown traits. Our findings offer novel insights into cassava storage root traits as well as data for marker development and candidate gene identification. [ABSTRACT FROM AUTHOR]

Tree species’ ability to persist within their current distribution ranges is determined by seed germination and seedling growth. Exploring variation in these traits in relation to climatic conditions helps to understand and predict tree population dynamics, and to support species management and conservation under future climate. We analyzed seeds and seedlings of 26 European beech populations from the northeastern boundary of the species range to test whether: 1) adaptation to climatic conditions is reflected in depth of dormancy and germination of seeds; 2) climatic characteristics of origin predictably affect seedling traits. The variation in seed dormancy and germination in a laboratory test, and seedling growth and morphology traits in a nursery common-garden test was examined. Populations originating from warmer and drier sites (mostly from the northern region), compared to those from the opposite end of climatic gradient, germinated later, with a lower success, and produced seedlings with shorter and tougher roots. They had deeper dormancy and poorer seed germination capacity, and are likely more vulnerable to environmental changes. The climatic conditions at the origin shape the intraspecific variation of seed germination and seedling traits, and may limit regeneration from seed and affect adaptation potential of beech to increasing temperatures and decreasing precipitation.

Abstract Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsible for oocyte MI arrest. Further studies have demonstrated that patients with different pathogenic variants have variable phenotypes. We report a TUBB8 variant (c.10 A > C) in two siblings who presented different clinical features of primary infertility. The younger sister showed severe oocyte maturation arrest with abnormal morphology, whereas a few mature oocytes and zygotes could be retrieved from the older sister, but no embryo was available for transfer. This variant was previously reported without in vitro functional assays. In the present study, RT‒qPCR and western blot analyses revealed that c.10 A > C reduces TUBB8 mRNA and protein levels; however, immunofluorescence demonstrated that this variant does not change the localization of the protein. These findings confirm the pathogenicity of the c.10 A > C variant and support the relationship between the variant and phenotype in the patients.

(1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medical and published records. (3) Results: Twenty CEP cases, who presented with severe manifestations during perinatal period, were classified according to the main course of the disease: antenatal features, acute neonatal distress and postnatal diagnosis. Antenatal symptoms (seven patients) were mainly hydrops fetalis, hepatosplenomegaly, anemia, and malformations. Six of them died prematurely. Five babies showed acute neonatal distress, associated with severe anemia, thrombocytopenia, hepatosplenomegaly, liver dysfunction, and marked photosensitivity leading to diagnosis. The only two neonates who survived underwent hematopoietic stem cell transplantation (HSCT). Common features in post-natal diagnosis (eight patients) included hemolytic anemia, splenomegaly, skin sensitivity, and discoloured teeth and urine. All patients underwent HSCT, with success for six of them, but with fatal complications in two patients. The frequency of the missense variant named C73R is striking in antenatal and neonatal presentations, with 9/12 and 7/8 independent alleles, respectively. (4) Conclusions: The most recent cases in this series are remarkable, as they had a less fatal outcome than expected. Regular transfusions from the intrauterine period and early access to HSCT are the main objectives. [ABSTRACT FROM AUTHOR]

Copyright of Kranion is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The scope of this study, some of the local Turkish watermelon genotypes were evaluated morphologically. A total of 20 local genotypes and three commercial varieties were assessed regarding their cotyledon, leaf, fruit, and seed phenotypes. An extensive morphological analysis was performed on a diverse set of genotypes. Traits such as cotyledon shape and color intensity, leaf size and lobing, and fruit size, shape, and color were measured and compared. Hierarchical clustering analysis, correlation matrices, and principal component analysis were employed to interpret the data. The study revealed significant morphological variability among the watermelon genotypes. Cotyledons ranged from narrow to broad, with a predominance of large sizes and dark green coloration. Leaf characteristics varied widely, with a notable distribution across different sizes and degrees of lobing. Fruit analysis showed a broad spectrum of shapes, sizes, and colors, indicating a rich genetic diversity. Two main genotype clusters were identified, suggesting a clear distinction based on morphological traits. [ABSTRACT FROM AUTHOR]

It was found that the variability of additional elements in the posterior part of the first and second upper molars in L. gregalis forms a morphological module with a hierarchical structure. This module is designated as an atypical form (Atypical Form), and its phenotype iss AF. The phenotype of the typical form is designated as tf (typical form). The main component of modular variability is an increase in the frequency of individuals with the AF phenotype with age. The severity of this phenotype also increases with age. The presence of the AF phenotype in individuals is determined monogenically. Individuals with the AF phenotype are dominant heterozygotes or homozygotes. Which phenotype (tf or AF) the dominant heterozygote implements may depend on the influence of modifier genes. The revealed morphological module of the presence of additional elements in the posterior part of the first and second upper molars has a genetic basis. [ABSTRACT FROM AUTHOR]

Mitochondrial disorders can present with a wide range of clinical and biochemical phenotypes. Mitochondrial DNA variants may be influenced by factors such as degree of heteroplasmy and tissue distribution. We present a four‐generation family in which 10 individuals carry a pathogenic mitochondrial variant (m.5537_5538insT, MT‐TW gene) with differing levels of heteroplasmy and clinical features. This genetic variant has been documented in two prior reports, both in individuals with Leigh syndrome. In the current family, three individuals have severe mitochondrial symptoms including Leigh syndrome (patient 1, 100% in blood), MELAS (patient 2, 97% heteroplasmy in muscle), and MELAS‐like syndrome (patient 3, 50% heteroplasmy in blood and 100% in urine). Two individuals have mild mitochondrial symptoms (patient 4, 50% in blood and 67% in urine and patient 5, 50% heteroplasmy in blood and 30% in urine). We observe that this variant is associated with multiple mitochondrial presentations and phenotypes, including MELAS syndrome for which this variant has not previously been reported. We also demonstrate that the level of heteroplasmy of the mitochondrial DNA variant correlates with the severity of clinical presentation; however, not with the specific mitochondrial syndrome. [ABSTRACT FROM AUTHOR]

Pistacia atlantica subsp. kurdica (PAK) is both an economically and ecologically keystone tree species of semi-mountainous and semi-arid forests in western and southern Iran; however, its standing genetic diversity is increasingly threatened by a range of pressures such as climate change and anthropogenic landscape degradation. To support the development of suitable conservation and management plans for this species, the geographic pattern of phenotypic and genetic variation of 33 populations (a total of 567 trees), along the climate gradient of the species natural distribution in Iran from the temperate to dry-warm forest, was examined using six phenotypic traits and 13 nuclear microsatellite markers. We found significant phenotypic variation in all traits and populations along with the shifting climate and observed smaller leaves but larger and heavier seeds in the dry-warm southern populations. Based on neutral SSRs analysis of genetic variation in the nuclear genome, although the current PAK populations have maintained moderate to high levels of genetic diversity (HE = 0.566–0.711) to date, the populations inhabiting degraded localities in southern Zagros forests maintained lower levels of genetic diversity statistics as compared to the germplasm from the northern landscape of these forests. In addition, populations have shown a high degree of genetic differentiation (FST = 0.291) which can mostly be explained by the scattered and fragmented patterns of PAK distribution in the Zagros forests and the geographical barriers to the genetic material exchange between populations. STRUCTURE analysis revealed a geographical genetic structure and clustered populations into five main clusters corresponding to the northern, central, and southern populations, demonstrating substantial variability across the species' range in the values of environmental drivers shaping the composition of the populations' genome. Finally, the Mantel tests for correlation among population matrices detected significant positive correlations between genetic and both geographic and climatic distances. These findings are expected to provide theoretical support for the management and conservation designs of the PAK genetic resources in the Zagros mountains. [ABSTRACT FROM AUTHOR]

The study of the effect of thyroid hormones on the development of the pigment pattern, including the expression of sexual dichromatism, contributes to our understanding of the role of endocrine signaling in the evolution of cichlid fishes, one of the most diverse groups of teleosts. This work shows the effect of reduced thyroid hormone signaling on the development of reversed sexual dichromatism in Amatitlania nigrofasciata, a Neotropical cichlid in which females, unlike males, have carotenoid coloration. In hypothyroid fishes, there was a slowdown in the rate of metamorphic transformations of the pigment pattern and an increase in phenotypic variability. The adult pattern based on carotenoids began to develop in females only after the completion of treatment of thiourea, which suppresses the synthesis of endogenous thyroid hormones. The data obtained indicate a potentially important role of thyroid hormone-mediated developmental plasticity in the diversification of carotenoid coloration in Neotropical cichlids. [ABSTRACT FROM AUTHOR]

Background: Bardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity, hypogonadism, rod-cone dystrophy, cognitive impairment, and renal abnormalities (renal cystic dysplasia, anatomical malformation). To date about twenty-five genes have been identified to cause BBS, which accounts for about 80% of BBS diagnosis. Methods: In the current study, we have performed mutational screening of four Pakistani consanguineous families (A-D) with clinical manifestation of BBS by microsatellite-based genotyping and whole exome sequencing. Results: Analysis of the data revealed four variants, including a novel/unique inheritance pattern of compound heterozygous variants, p.(Ser40*) and p.(Thr259Leufs*21), in MKKS gene, novel homozygous variant, p.(Gly251Val)] in BBS7 gene and two previously reported p.(Thr259Leufs*21) in MKKS and p.(Met1Lys) in BBS5 gene. The variants were found segregated with the disorder within the families. Conclusion: The study not only expanded mutations spectrum in the BBS genes, but this will facilitate diagnosis and genetic counselling of families carrying BBS related phenotypes in Pakistani population. [ABSTRACT FROM AUTHOR]

Ambient temperature is one of the major environmental factors affecting flowering. As the temperature rises, most plants, including Arabidopsis, flower more rapidly. In addition, phenotypic variability in flowering time tends to increase at warm ambient temperatures. The increased variability of flowering time at warm temperatures prevents accurate flowering time measurements, particularly when evaluating the flowering time of Arabidopsis plants under short-day conditions in order to restrict the photoperiodic effect. Here, we propose a simple method for reducing the variability of flowering time at warm temperatures. Instead of growing plants at different temperatures from germination, the strategy of first vegetative growth at cool temperatures and then shifting to warm temperatures allows plants to respond more stably and robustly to warm temperatures. Consistent with flowering time measurements, plants grown under the modified growth condition exhibited higher levels of FLOWERING LOCUS T (FT) gene expression than plants grown exclusively at warm temperatures. This approach enables more precise thermo-response studies of flowering time control in Arabidopsis.

Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsible for oocyte MI arrest. Further studies have demonstrated that patients with different pathogenic variants have variable phenotypes. We report a TUBB8 variant (c.10 A > C) in two siblings who presented different clinical features of primary infertility. The younger sister showed severe oocyte maturation arrest with abnormal morphology, whereas a few mature oocytes and zygotes could be retrieved from the older sister, but no embryo was available for transfer. This variant was previously reported without in vitro functional assays. In the present study, RT‒qPCR and western blot analyses revealed that c.10 A > C reduces TUBB8 mRNA and protein levels; however, immunofluorescence demonstrated that this variant does not change the localization of the protein. These findings confirm the pathogenicity of the c.10 A > C variant and support the relationship between the variant and phenotype in the patients. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Agricultural Sciences, Belgrade is the property of University of Belgrade, Faculty of Agriculture and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)