Search

Abstract: Plant roots grow due to cell division in the meristem and subsequent cell elongation and differentiation, a tightly coordinated process that ensures growth and adaptation to the changing environment. How the newly formed cells decide to stop elongating becoming fully differentiated is not yet understood. To address this question, we established a novel approach that combines the quantitative phenotypic variability of wild‐type Arabidopsis roots with computational data from mathematical models. Our analyses reveal that primary root growth is consistent with a Sizer mechanism, in which cells sense their length and stop elongating when reaching a threshold value. The local expression of brassinosteroid receptors only in the meristem is sufficient to set this value. Analysis of roots insensitive to BR signaling and of roots with gibberellin biosynthesis inhibited suggests distinct roles of these hormones on cell expansion termination. Overall, our study underscores the value of using computational modeling together with quantitative data to understand root growth. [ABSTRACT FROM AUTHOR]

Seventy-five vineyard peach [ Prunus persica (L.) Batsch] accessions, obtained by seed propagation and originating from different regions of Serbia, were characterized using a set of 39 agro-morphological traits. The evaluation was carried out over a 3-year period in a vineyard peach collection situated at the Radmilovac Experimental Station, owned by the Faculty of Agriculture, Belgrade University. To investigate diversity, descriptive statistics and multivariate analyses were used. Most studied traits showed high variability. The variability of descriptive traits was highly pronounced for fruit ground and flesh colour; regarding metric traits, the highest variation was recorded for trunk circumference, petal width, flower density, fruit set, fruit weight, sweetness index, fruit taste and fruit flavour. According to PCA, traits with high discriminating power were those related to flower type, colour and size, fruit size and presence of over colour, tree height, ripening time and fruit taste. The cluster analysis grouped accessions into three main clusters and a few sub-clusters. Agronomically-important traits allowed a clear separation between the clusters, while morphological traits had almost no impact on this. This study provided information that is important for assessing the biodiversity of vineyard peach accessions, to develop guidelines useful for the description, classification and conservation of valuable local germplasm. Moreover, the phenotypic variability in the vineyard peach collection was found to be very high, suggesting there is extensive genetic diversity available for peach cultivar and rootstock breeding programs. [ABSTRACT FROM AUTHOR]

Copyright of Acta Scientiarum: Agronomy is the property of Universidade Estadual de Maringa 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.)

Von Hippel-Lindau ( VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene. Patients are predisposed to develop pheochromocytomas and solid or cystic tumors of the central nervous system, kidney, pancreas, and retina. Remarkable phenotypic heterogeneity exits in organ involvement and tumor onset age between and within VHL families. However, no reliable markers have been found to predict the age-related tumor risks in VHL patients. A large Chinese cohort composed of 300 VHL patients and 92 healthy family controls was enrolled in our study. Blood relative telomere length was measured in 184 patients and all the controls available for genomic DNA samples. Age-related risks for the five major VHL-associated tumors were evaluated using Kaplan-Meier plots and Cox regression analysis. Differences in clinical phenotype were observed between Chinese cohort and the United Kingdom cohort. VHL patients showed significantly shorter telomere length than healthy family controls( P = 0.0183), and a positive correlation was found between telomere length and onset age of the five major tumors, respectively. Moreover, patients in the shorter telomere group (age-adjusted telomere length ≤ 0.44) suffered higher age-related risks for VHL-associated central nervous system hemangioblastomas ( HR: 1.879, P = 0.004), renal cell carcinoma ( HR: 2.126, P = 0.002) and pancreatic cyst and neuroendocrine tumors ( HR: 2.093, P = 0.001). These results indicate that blood shorter telomere length is a new biomarker for age-related tumor risks in VHL patients, which will be crucial to genetic counseling and future research about the role of telomere shortening in the pathogenesis of VHL-associated tumors. [ABSTRACT FROM AUTHOR]

Copyright of Agronomía Colombiana is the property of Universidad Nacional de Colombia 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 last classification of corn races in Brazil was performed in 1977, when were described 19 races and 15 sub-races within four groups. However, this classification, which considered the race diversity in Brazil and South American lowlands, did not include popcorns. Therefore, there is a diversity in situ-on farm, which not yet was described after almost 40 years from the last study. This work aimed at identifying popcorn races from populations conserved in situ-on farm in the micro-region of the Far West of the State of Santa Catarina, Southern Brazil, and verifying their relationships with other races of the American continent. Thus, 218 ears of 70 popcorn populations were collected from small-scale farms, aiming to evaluate them for corn descriptors through 16 morphological characters related to ear and kernel. The populations showed variability for all characters, mainly for kernel color. The cluster analysis and principal coordinates, based on Gower index, have highlighted the presence of four distinct groups and one isolated population: I and II Groups, and the population 2279X are not grouped with other popcorn races of Americas, and Groups III and IV have different relationships with other popcorn races of Americas. Thus, in the region of study, there are at least five popcorn races conserved in situ-on farm. [ABSTRACT FROM AUTHOR]

Breast cancer (BC) is a heterogeneous disease which many studies have classified in at least four molecular subtypes: Luminal A, Luminal B, HER2-Enriched, and Basal-like (including triple-negative breast cancer, TNBC). These subtypes provide information to stratify patients for better prognostic predictions and treatment selection. Individuals vary in their sensitivities to carcinogens due to differences in their DNA repair capacity (DRC) levels. Although our previous case-control study established low DRC (in terms of NER pathway) as a BC risk factor, we aim to study this effect among the molecular subtypes. Therefore, the objectives of this study include investigating whether DRC varies among molecular subtypes and testing any association regarding DRC. This study comprised 267 recently diagnosed women with BC (cases) and 682 without BC (controls). Our results show a substantial variability in DRC among the molecular subtypes, with TNBC cases (n = 47) having the lowest DRC (p-value < 0.05). Almost 80 percent of BC cases had a DRC below the median (4.3%). Low DRC was strongly associated with the TNBC subtype (OR 7.2; 95% CI 3.3, 15.7). In conclusion, our study provides the first report on the variability among the molecular subtypes and provides a hypothesis based on DRC levels for the poor prognosis of TNBC. [ABSTRACT FROM AUTHOR]

Recurrent microduplications/microdeletions of 1q21.1 are characterized by variable phenotypes ranging from normal development to developmental delay (DD) and congenital anomalies. Their interpretation is challenging especially in families with affected and unaffected carriers. We used whole exome sequencing (WES) to look for sequence variants in two male probands with inherited 1q21.1 CNVs that could explain their more severe phenotypes. One proband had a 1q21.1 deletion transmitted from maternal grandmother, while the other had a paternal duplication. We found mutations in five genes ( SMPD1, WNK3, NOS1, ATF6, and EFHC1) that could contribute to the more severe phenotype in the probands in comparison to their mildly affected or unaffected 1q21.1 CNV carrying relatives. Interestingly, all genes have roles in stress responses (oxidative/Endoplasmic Reticulum (ER)/osmotic). One of the variants was in an X-linked gene WNK3 and segregated with the developmental features and X inactivation pattern in the family with 1q21.1 deletion transmitted from maternal grandmother. In silico analysis of all rare deleterious variants in both probands identified enrichment in nervous system diseases, metabolic pathways, protein processing in the ER and protein export. Our studies suggest that rare deleterious variants outside of the 1q21.1 CNV, individually or as a pool, could contribute to phenotypic variability in carriers of this CNV. Rare deleterious variants in stress response genes are of interest and raise the possibility of susceptibility of carriers to variable environmental influences. Next generation sequencing of additional familial cases with 1q21.1 CNV could further help determine the possible causes of phenotypic variability in carriers of this CNV. [ABSTRACT FROM AUTHOR]

Plant species persistence in natural communities requires coping with biotic and abiotic challenges. These challenges also depend on plant community composition and diversity. Over time, biodiversity effects have been shown to be strengthened via increasing species complementarity in mixtures. Little is known, however, whether differences in community diversity and composition induce rapid transgenerational phenotypic adaptive differentiation during community assembly. We expect altered plant-plant and other biotic interactions (mutualists or antagonists) in high vs. low diverse communities to affect immediate within- and between-species trait differentiations due to competition for light and nutrients., Three years after the initiation of a large-scale, long-term biodiversity experiment in Jena, Germany, we tested for effects of varying experimental plant community diversity (1-60 plant species; one to four plant functional groups) and composition (with or without legumes and/or grasses) on phenotypic differentiation and variation of the tall herb Knautia arvensis. We measured reproduction at different diversity levels in the Jena Experiment (residents hereafter) and, in an additional common garden experiment without competition, recorded subsequent offspring performance (i.e. growth, reproductive success and susceptibility to powdery mildew) to test for differentiation in phenotypic expression and variability., We observed phenotypic differences among diversity levels with reduced fecundity of K. arvensis residents in more diverse communities. In the next generation grown under common garden conditions, offspring from high-diversity plots showed reduced growth (i.e. height) and lower reproduction (i.e. fewer infructescences), but increased phenotypic trait variability (e.g. in leaf width and powdery mildew presence) and also tended to be less susceptible to powdery mildew infection., Community composition also affected Knautia parents and offspring. In the presence of legumes, resident plants produced more seeds (increased fecundity); however, germination rate of those seeds was reduced at an early seedling stage (reduced fertility)., Synthesis. We conclude that rapid transgenerational effects of community diversity and composition on both mean and variation of phenotypic traits among offspring exist. In addition to heritable variation, environmentally induced epigenetic and/or maternal processes matter for early plant community assembly and may also determine future species coexistence and community stability. [ABSTRACT FROM AUTHOR]

Baikal endemic Benedictia fragilis gastropods distributed in a wide range of depths (from sublittoral to abyssal) of three lake basins are studied. The analysis of the nucleotide sequence of the COI mitochondrial gene fragment and internal transcribed nuclear DNA spacer (ITS1) demonstrates that the studied gastropods are represented in Lake Baikal by three genetic groups. The results of the studies on genetic diversity, phenotypic traits, and distribution allow us to assume that the detected groups are incipient allopatric (geographical) species. On the basis of the data obtained and geological and climatic history of Baikal, possible pathways of the B. fragilis resettlement in the lake and the emergence of three genetic groups are hypothesized. [ABSTRACT FROM AUTHOR]

Copyright of Revista Caatinga is the property of Revista Caatinga 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 selection and genetic improvement of wine yeast is an ongoing process, since yeast strains should match new technologies in winemaking to satisfy evolving consumer preferences. A large genetic background is the necessary starting point for any genetic improvement programme. For this reason, we collected and characterized a large number of strains belonging to Saccharomyces uvarum. In particular, 70 strains were isolated from cold-stored must samples: they were identified and compared to S. uvarum strains originating from different collections, regarding fermentation profile, spore viability and stress response. The results demonstrate a large biodiversity among the new isolates, with particular emphasis to fermentation performances, genotypes and high spore viability, making the isolates suitable for further genetic improvement programmes. Furthermore, few of them are competitive with Saccharomyces cerevisiae and per se, suitable for wine fermentation, due to their resistance to stress, short lag phase and fermentation by-products. [ABSTRACT FROM AUTHOR]

Syndromic thoracic aortic aneurysm and dissection ( TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz ( LDS) syndromes. Several of the TGFβ-pathway-related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ 2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called Loeys-Dietz syndrome type 4 (LDS4). We report the clinical characterization of a LDS4 French family with sudden deaths and diffuse vascular lesions, caused by a frameshift mutation in TGFβ 2 gene: c.[995del]; p.(Leu332TrpfsTer27). Clinical characteristics include aneurysm of aortic sinus, skeletal and cutaneous features compatible with a syndromic form of TAAD (joint hypermobility, scoliosis, and easy bruises), intracranial aneurysms and rare mitral valve involvement. Iliac aneurysms, systemic medium caliber arteries dissections, and mild developmental delay were present in the family, and have not been described in LDS4. Phenotypic variability was also an important finding, including absence of clinical vascular events at advanced age in one case. Our data expand the phenotype of LDS4: we confirm that TGFβ 2 mutations are responsible for true LDS syndrome with non-specific features of connective tissue disorders and diffuse vascular lesions. Adapted vascular follow up and prevention has to be proposed for these patients. [ABSTRACT FROM AUTHOR]

Introduction: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients.Methods: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients.Results: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive- or psychiatric changes were the first neurological manifestations of aceruloplasminemia.Conclusions: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive- or psychiatric changes may be the first neurological manifestations of aceruloplasminemia. [ABSTRACT FROM AUTHOR]

Study Question: Are there any new type of mutations and novel phenotypes in patients with arrest in oocyte maturation, fertilization or early embryonic development having tubulin beta eight class VIII (TUBB8) mutations?Summary Answer: We identified new types of mutations in TUBB8 associated with maturation, fertilization and developmental arrest.What Is Known Already: We previously found heterozygous mutations and a homozygous frameshift/internal seven amino acid deletion in TUBB8 that are responsible for oocyte maturation arrest.Study Design, Size, Duration: We recruited 10 new primary infertility patients from 9 families from December 2015 to May 2016, most of which exhibited failures in oocyte maturation.Participants/materials, Setting, Methods: Ten primary infertility patients were recruited from the reproduction centers in local hospitals. Genomic DNA samples from the affected individuals, their family members and healthy controls were extracted from peripheral blood. TUBB8 in the DNA samples were sequenced by Sanger sequencing. TUBB8 sequence was then aligned by CodonCode software to identify rare variants. ExAC database was used to search frequency of corresponding mutations. In silico analysis of mutations was used by Polyphen and PROVEAN. Phenotypes of oocytes and embryos were evaluated by light microscopy, polarization microscopy or immunolabeling.Main Results and the Role Of Chance: Besides several novel heterozygous missense mutations, we also identified other new types of genetic variants, including homozygous mutations and a de novo compound heterozygous mutation. We also found a patient with a homozygous deletion of the whole TUBB8 gene, which is the first reported case of a large structural variation in this gene. In addition, we found different mutations in TUBB8 that could result in variability in oocyte/embryo phenotypes, including oocyte maturation arrest, first polar body (PB1) oocytes that cannot be fertilized, and PB1 oocytes that can be fertilized but arrest at an early embryonic stage.Limitations, Reasons For Caution: The exact molecular mechanism has not been analyzed and should be further investigated in the future. In addition, immunostaining of more oocytes with mutations and checking spindle status of oocytes with mutations non-invasively by polarization microscopy needs to be done in order to determine exact stage of PB1 oocytes and the functional differences of these mutations.Wider Implications Of the Findings: The results not only emphasize the important role of TUBB8 in oocyte maturation, fertilization and early embryonic development but they also provide a basis for determining the genetic variations in TUBB8 as a potential additional criterion for evaluating the quality of patients' functional PB1 oocytes.Study Funding/competing Interests: National Key R&D Program of China (2016YFC1000600); Basic Research Program of China (2015CB943300); National Natural Science Foundation of China (81270747 and 81571501). No competing interests declared. [ABSTRACT FROM AUTHOR]

Calabash gourd (Lagenaria siceraria) is an important Cucurbitaceae species with a wide variety of uses, including ornamental and aboriginal food conservation, planted mainly in the tropics and subtropics with scarce information about morphogenic analysis of fruits and seeds, limiting the possibilities for the conservation of the species. To determine morphogenic characteristics of calabash gourd fruits and seeds from three localities of Cordoba (Lorica, Tierralta-1 and Tierralta-2), the weight, longitude (lineal and curve), circumference (upper, intermediate and lower), width (upper and lower), cortex and color of 13 ripen fruits (Lorica: 4, Tierralta-1: 6 and Tierralta-2: 3), weight of 1, 1000 and total seeds, longitude, width and thickness of 50 seeds per fruit. The results for the three localities suggest a high phenotypic variability associated with fruit weigh and seed number (viables and non-viables); variation for fruit weigh was around 27,3% (Lorica) and 82,6% (Tierralta-2), while for number of viable seeds ranged between 7,4% and 24,7%. The other considered morphogenic variables reported low to high variability depending on the origin. Fruit weigh and all variables associated with fruit size (Lineal and curve longitude, upper, intermediate, and lower circumference) are good indicators of number (Pr< 0.05) and seed weigh per fruit. Calabash gourd fruits have phenotypic variability and the main characteristics of fruit size have direct effects on seed quantity and viability [ABSTRACT FROM AUTHOR]

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., (© 2023. The Author(s).)

Objectives: Clinical sepsis phenotypes may be defined by a wide range of characteristics such as site of infection, organ dysfunction patterns, laboratory values, and demographics. There is a paucity of literature regarding the impact of site of infection on the timing and pattern of clinical sepsis markers. This study hypothesizes that important phenotypic variation in clinical markers and outcomes of sepsis exists when stratified by infection site., Design: Retrospective cohort study., Setting: Five hospitals within the Wake Forest Health System from June 2019 to December 2019., Patients: Six thousand seven hundred fifty-three hospitalized adults with a discharge International Classification of Diseases , 10th Revision code for acute infection who met systemic inflammatory response syndrome (SIRS), quick Sepsis-related Organ Failure Assessment (qSOFA), or Sequential Organ Failure Assessment (SOFA) criteria during the index hospitalization., Interventions: None., Measurements and Main Results: The primary outcome of interest was a composite of 30-day mortality or shock. Infection site was determined by a two-reviewer process. Significant demographic, vital sign, and laboratory result differences were seen across all infection sites. For the composite outcome of shock or 30-day mortality, unknown or unspecified infections had the highest proportion (21.34%) and CNS infections had the lowest proportion (8.11%). Respiratory, vascular, and unknown or unspecified infection sites showed a significantly increased adjusted and unadjusted odds of the composite outcome as compared with the other infection sites except CNS. Hospital time prior to SIRS positivity was shortest in unknown or unspecified infections at a median of 0.88 hours (interquartile range [IQR], 0.22-5.05 hr), and hospital time prior to qSOFA and SOFA positivity was shortest in respiratory infections at a median of 54.83 hours (IQR, 9.55-104.67 hr) and 1.88 hours (IQR, 0.47-17.40 hr), respectively., Conclusions: Phenotypic variation in illness severity and mortality exists when stratified by infection site. There is a significantly higher adjusted and unadjusted odds of the composite outcome of 30-day mortality or shock in respiratory, vascular, and unknown or unspecified infections as compared with other sites., Competing Interests: The authors have disclosed that they do not have any potential conflicts of interest., (Copyright © 2023 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of the Society of Critical Care Medicine.)

Transient receptor potential vanilloid 4 (TRPV4) mutations are known to cause inherited axonal neuropathies and skeletal dysplasia. TRPV4 mutations are associated with distal hereditary motor neuropathies (dHMN), which distinctly involve motor deficits. A 1 ½-year-old boy presented at the clinic with diminished lower limb movement and ambulatory limitations. The patient was born with bilateral knee arthrogryposis and bilateral talipes equinovarus, which required surgical intervention. A gross neurologic exam was unremarkable, with normal vision and hearing. A bone survey radiograph showed no evidence of skeletal dysplasia. Genetic tests revealed a homozygous mutation in the TRPV4 gene (c.281C>T; p.S94L), leading to the diagnosis of congenital spinal muscular atrophy and arthrogryposis (CSMAA). Hence, this presents the first case of CSMAA caused by a TRPV4 mutation (p.S94L), with a different presentation from the one previously described in the literature, thus broadening the phenotypic variability and clinical spectrum of TRPV4 mutations., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Lugo et al.)

The genetic variability of the Brazilian physic nut (Jatropha curcas) germplasm bank (117 accessions) was assessed using a combination of phenotypic and molecular data. The joint dissimilarity matrix showed moderate correlation with the original matrices of phenotypic and molecular data. However, the correlation between the phenotypic dissimilarity matrix and the genotypic dissimilarity matrix was low. This finding indicated that molecular markers (RAPD and SSR) did not adequately sample the genomic regions that were relevant for phenotypic differentiation of the accessions. The dissimilarity values of the joint dissimilarity matrix were used to measure phenotypic + molecular diversity. This diversity varied from 0 to 1.29 among the 117 accessions, with an average dissimilarity among genotypes of 0.51. Joint analysis of phenotypic and molecular diversity indicated that the genetic diversity of the physic nut germplasm was 156% and 64% higher than the diversity estimated from phenotypic and molecular data, respectively. These results show that Jatropha genetic variability in Brazil is not as limited as previously thought.

Abstract. The greatest genetic diversity of tomato (Solanum lycopersicum L.) in terms of fruit quality characteristics such as flavor, aroma, color, and lycopene and b-carotene contents is found in wild species. This study evaluated the agronomic characteristics and fruit quality of 30 cherry tomato introductions of the germplasm bank of the Universidad Nacional de Colombia - Sede Palmira in trials conducted at the Montelindo experimental farm of the Universidad de Caldas (1010 m above sea level, average temperature 22.8 °C, average annual rainfall 2200 mm, 76% relative humidity). A 5 x 6 rectangular lattice experimental design was used with 30 treatments (introductions) and a commercial control (Sweet Million), 4 replicates/treatment, and 5 plants/replicate as experimental unit. The descriptors used were those suggested by the former International Plant Genetic Resources Institute, now Bioversity International. Data were statistically analyzed by ANOVA and Duncan's means test using the SAS program. In addition, principal component and cluster dendrogram analyses using the SAS Princom and Cluster procedure (SAS Institute, Cary, NC) were performed. Six principal components accounted for 80.39% of the morphological variability of the introductions evaluated. The most promising materials in terms of average fruit weight, yield per plant and per hectare, and soluble solids, vitamin C and lycopene contents were IAC1624, IAC391, IAC3652, LA2131, IAC424, IAC1621, IAC426, LA1480 and IAC1688. The broad phenotypic variability observed in the evaluated introductions favors the potential selection and breeding of tomato for traits associated with fruit production and quality.Resumen. La mayor diversidad genética del tomate (Solanum lycopersicum L.) en términos de características de calidad del fruto como sabor, aroma, coloración y contenidos de licopeno y b-caroteno se encuentra en especies silvestres. Este estudio evaluó las características agronómicas y de calidad del fruto de 30 introducciones de tomate cereza provenientes del banco de germoplasma de la Universidad Nacional de Colombia -Sede Palmira en ensayos realizados en la granja Montelindo de la Universidad de Caldas (1010 m sobre el nivel del mar; temperatura media, 22,8°C; precipitación promedio anual, 2200 mm; humedad relativa, 76%). Se usó un diseño experimental de látice rectangular 5 x 6, con 30 tratamientos (introducciones) y un testigo comercial (Sweet Million), 4 repeticiones/tratamiento y 5 plantas/repetición como unidad experimental. Se utilizaron descriptores sugeridos por el antiguo Instituto Internacional de Recursos Fitogenéticos, ahora Bioversity International. Los datos fueron analizados estadísticamente utilizando análisis de varianza y la prueba de promedios de Duncan a través del programa SAS. Adicionalmente se realizaron análisis de componentes principales y agrupamiento por dendrograma por medio del procedimiento Princom y Cluster de SAS (SAS Institute, Cary, NC). Seis componentes principales explicaron el 80,39% de la variabilidad morfológica de las introducciones evaluadas. Los materiales más promisorios en términos de peso promedio de fruto, producción por planta, rendimiento y contenidos de sólidos solubles, vitamina C y licopeno fueron IAC1624, IAC391, IAC3652, LA2131, IAC424, IAC1621, IAC426, LA1480 y IAC1688. La amplia variabilidad fenotípica de las introducciones evaluadas favorece la posibilidad de selección y mejoramiento genético en tomate por caracteres asociados a la producción y calidad del fruto.

Abstract Noisy bistable dynamics in gene regulation can underlie stochastic switching and is demonstrated to be beneficial under fluctuating environments. It is not known, however, if fluctuating selection alone can result in bistable dynamics. Using a stochastic model of simple feedback networks, we apply fluctuating selection on gene expression and run in silico evolutionary simulations. We find that independent of the specific nature of the environment–fitness relationship, the main outcome of fluctuating selection is the evolution of increased evolvability in the network; system parameters evolve toward a nonlinear regime where phenotypic diversity is increased and small changes in genotype cause large changes in expression level. In the presence of noise, the evolution of increased nonlinearity results in the emergence and maintenance of bistability. Our results provide the first direct evidence that bistability and stochastic switching in a gene regulatory network can emerge as a mechanism to cope with fluctuating environments. They strongly suggest that such emergence occurs as a byproduct of evolution of evolvability and exploitation of noise by evolution.

Grain protein content is polygenic character in rice and plays very important role in human nutrition. The objective of thisstudy was to validate already mapped markers associated to protein content in F5 Recombinant Inbred Lines of rice derivedfrom BPT 5204× HPR 14 using Near Infrared Reflectance Spectroscopy. About 17 polymorphic primers were validated onselected F5 lines. In F5 generation, about 7 primers showed significant association with total grain protein content. Among 7primers, RM520 showed 9.1 per cent phenotypic variability (R2) followed by RM206 with 8.75 per cent R2 in F5 generation.Selected 2 lines with high protein content were subjected to Graphical genotyping analysis using 63 microsatellite markers.Line number 73 represented 39.7 per cent of BPT parent, 56.4 per cent HPR parent and 4 per cent of heterozygote. Thisindicates high protein content was inherited from male parent. It could be due to samples were taken from a large populationand also less number of polymorphic markers scanned on chromosomes and it needs to be fine tuned with more number ofmarkers on the whole genome. Lines with high protein content can be used for further improvement programme to develop asuitable variety to feed the human with nutritious diet.

Este trabalho teve como objetivo avaliar a variabilidade de características físicas e químico-nutricionais de frutos de seis populações de pequizeiro de ocorrência nos Estados do Maranhão e Piauí (região Meio-Norte do Brasil). Os frutos foram coletados no estádio de maturação (frutos caídos no chão), na safra de 2008. Analisaram-se as seguintes características físicas do fruto: massa média, massa média da casca, massa média do caroço, massa média da amêndoa, percentagem de polpa, relação comprimento/diâmetro médio do fruto, relação comprimento/diâmetro médio do caroço, relação comprimento/diâmetro médio da amêndoa e espessura média da casca. Na polpa e na amêndoa, foram analisadas as características químico-nutricionais: umidade, gordura, proteína bruta, fibra bruta, cinzas, carboidratos totais, energia e minerais (P, K, Ca, Mg, Mn, Cu, Zn e Fe). Os dados foram submetidos à análise de variância, e as médias das populações foram comparadas pelo teste de agrupamento Scott-Knott a 5%. Observou-se elevada variabilidade fenotípica entre as populações para a maioria dos caracteres analisados. Ambas, polpa e amêndoa, mostraram-se ricas em termos nutricionais, sendo a amêndoa, porém, bem mais rica. Em média, a população de Alto Longá, no Piauí, é uma promissora fonte de variabilidade para a maioria dos caracteres físicos e químico-nutricionais estudados.The objective of this work was to evaluate physical and chemical-nutritional characteristics of fruits from six pequi populations of natural occurrence in the states of Maranhão and Piauí (Mid-North region of Brazil). Fruits were collected at the maturity stage (fruits lying on the ground), at the harvest of 2008. The following fruit physical characteristics were analyzed: average mass, peel average mass, stone average mass, kernel average mass, pulp percentage, fruit length/fruit mean diameter ratio, stone length/stone mean diameter ratio, kernel length/kernel mean diameter ratio and peel average thickness. In the pulp and kernel were analyzed the following chemical-nutritional characteristics: moisture, fat, crude protein, crude fiber, ash, total carbohydrates, energy and minerals (P, K, Ca, Mg, Mn, Cu, Zn and Fe). The data were submitted to the variance analysis and population means were compared by Scott-Knott grouping test at 5%. It was observed a high phenotypic variability among populations for most analyzed traits. Both pulp and kernel are rich in nutritional terms, being the kernel, however, much richer. On average, the population of Alto Longá, from Piauí State, is a promising source of variability for most physical and chemical-nutritional characters studied.

Ontogenetic changes in venom composition have important ecological implications due the relevance of venom in prey acquisition and defense. Additionally, intraspecific venom variation has direct medical consequences for the treatment of snakebite. However, ontogenetic changes are not well documented in most species. The Mexican Black-tailed Rattlesnake (Crotalus molossus nigrescens) is large-bodied and broadly distributed in Mexico. To document venom variation and test for ontogenetic changes in venom composition, we obtained venom samples from twenty-seven C. m. nigrescens with different total body lengths (TBL) from eight states in Mexico. The primary components in the venom were detected by reverse-phase HPLC, western blot, and mass spectrometry. In addition, we evaluated the biochemical (proteolytic, coagulant and fibrinogenolytic activities) and biological (LD50 and hemorrhagic activity) activities of the venoms. Finally, we tested for recognition and neutralization of Mexican antivenoms against venoms of juvenile and adult snakes. We detected clear ontogenetic venom variation in C. m. nigrescens. Venoms from younger snakes contained more crotamine-like myotoxins and snake venom serine proteinases than venoms from older snakes; however, an increase of snake venom metalloproteinases was detected in venoms of larger snakes. Venoms from juvenile snakes were, in general, more toxic and procoagulant than venoms from adults; however, adult venoms were more proteolytic. Most of the venoms analyzed were hemorrhagic. Importantly, Mexican antivenoms had difficulties recognizing low molecular mass proteins (

O objetivo deste trabalho foi avaliar a variabilidade fenotípica entre acessos de sapucaia para características físicas de frutos e amêndoas e características químico-nutricionais de amêndoas, para fins de uso em futuros trabalhos de melhoramento genético. Os frutos foram colhidos no estádio de pré-maturação e mantidos em temperatura ambiente por cerca de uma semana para completar a maturação. As seguintes características físicas e químico-nutricionais foram analisadas: peso médio de fruto, diâmetro longitudinal, diâmetro equatorial, relação diâmetro longitudinal/diâmetro equatorial do fruto, diâmetro da tampa, peso médio de amêndoa, comprimento da amêndoa, diâmetro da amêndoa, relação comprimento/diâmetro da amêndoa, número de amêndoas/fruto, energia, gordura, proteína bruta, cinzas e minerais. Os dados foram submetidos à análise de variância, e as médias dos acessos, comparadas pelo teste de Scott-Knott a 5%. Houve diferenças estatísticas entre os acessos para as características avaliadas, exceto gordura e proteína bruta. Observou-se grande variabilidade fenotípica no germoplasma analisado, indicando que essa variabilidade pode servir de base inicial para futuros trabalhos de melhoramento genético.The objective of this work was to evaluate fruit and almond physical characteristics and almond chemical-nutritional characteristics of sapucaia accesses. Fruits were harvested at the stage of pre-ripening and kept at environment temperature for about a week to complete the ripening. The following physical and chemical-nutritional characteristics were analyzed: fruit mean weight, fruit longitudinal diameter, fruit equatorial diameter, fruit longitudinal diameter/fruit equatorial diameter ratio, cover diameter, almond mean weight, almond length, almond diameter, almond length/diameter ratio, almond number/fruit; fat, brute protein, asher and minerals. The data was submitted to the variance analysis and access means compared by the Scott-Knott test at 5%. There were statistical differences among accesses for all the analyzed characteristics, except for fat and brute protein. It was observed a great phenotypic variability in the analyzed germplasm, indicating that this variability may serve as a baseline for future works on genetic improvement.

Hearing loss (HL) is the most prevalent sensory disorder whose etiology comes from environmental and/or genetic factors. Approximately 60 % of HL cases are due to mutations in genes responsible for maintaining a normal hearing function. Despite the monogenic inheritance of hereditary hearing loss (HHL), its diagnosis is challenging as both clinical and genetic heterogeneity characterizes it. Through the development of next-generation sequencing (NGS) techniques, the number of identified mutations responsible for HHL has increased exponentially during the last decade. Mutations in the TMC1 have been reported in several patients with nonsyndromic hereditary hearing loss (NSHHL), more precisely in cases with an autosomal recessive inheritance pattern. In this study, we conducted whole-exome sequencing (WES) analysis of a United Arabs Emirates (UAE) family with autosomal recessive nonsyndromic hearing loss (ARNSHL). This analysis revealed segregation of the TMC1 missense mutation c.596A > T (p.Asn199Ile) with the disease. Bioinformatics analysis supported the pathogenic effect of this mutation and predicted its impact at the proteomics level. Molecular docking analysis of TM C2WT, TMC2 R123K, TMC2 Q205R, and TMC2 R123K + Q205R. Finally, protein docking results suggest a role for TMC2 variants in the phenotypic variability observed within the investigated family. [ABSTRACT FROM AUTHOR]

Neotropical cichlids demonstrate an enormous diversity of pigment patterns, a morphological trait that plays an important role in adaptation and speciation. It has been suggested that alterations of the activity of the thyroid axis, one of the main endocrine axes regulating fish ontogeny, are involved in the development and diversification of pigment patterns in Neotropical cichlids. To test this hypothesis, we assessed thyroid hormone developmental dynamics and pigment patterning, and experimentally induced hyperthyroidism and hypothyroidism at different developmental stages in the convict cichlid, Amatitlania nigrofasciata, and blue-eye cichlid, Cryptoheros spilurus. We found that the two species display a similar type of coloration development and similar reactions to changes of thyroid hormone level, but species-specific differences in hormonal dynamics and thyroid hormone responsiveness. These findings indicate that thyroid hormone is a necessary but not sufficient signal to induce the transition from larval to juvenile coloration, and is a component of a complex, concerted endocrine cascade that drives skin development., Competing Interests: Competing interests The authors declare no competing or financial interests., (© 2023. Published by The Company of Biologists Ltd.)

Populations of genetically identical microorganisms residing in the same environment can display marked variability in their phenotypic traits; this phenomenon is termed phenotypic heterogeneity. The relevance of such heterogeneity in natural habitats is unknown, because phenotypic characterization of a sufficient number of single cells of the same species in complex microbial communities is technically difficult. We report a procedure that allows to measure phenotypic heterogeneity in bacterial populations from natural environments, and use it to analyze N2 and CO2 fixation of single cells of the green sulfur bacterium Chlorobium phaeobacteroides from the meromictic lake Lago di Cadagno. We incubated lake water with 15N2 and 13CO2 under in situ conditions with and without NH4+. Subsequently, we used flow cell sorting with auto-fluorescence gating based on a pure culture isolate to concentrate C. phaeobacteroides from its natural abundance of 0.2 % to 26.5 % of total bacteria. C. phaeobacteroides cells were identified using catalyzed-reporter deposition fluorescence in situ hybridization (CARD-FISH) targeting the 16S rRNA in the sorted population with a species-specific probe. In a last step, we used nanometer-scale secondary-ion mass spectrometry (NanoSIMS) to measure the incorporation 15N and 13C stable isotopes in more than 252 cells. We found that C. phaeobacteroides fixes N2 in the absence of NH4+, but not in the presence of NH4+ as has previously been suggested. N2 and CO2 fixation were heterogeneous among cells and positively correlated indicating that N2 and CO2 fixation activity interact and positively facilitate each other in individual cells. However, because CARD-FISH identification cannot detect genetic variability among cells of the same species, we cannot exclude genetic variability as a source for phenotypic heterogeneity in this natural population. Our study demonstrates the technical feasibility of measuring phenotypic heterogeneity in a rare bacte

Summary The susceptibility to developing alcohol dependence and significant alcohol-related liver injury is determined by a number of constitutional, environmental and genetic factors, although the nature and level of interplay between them remains unclear. The familiality and heritability of alcohol dependence is well-documented but, to date, no strong candidate genes conferring increased risk have emerged, although variants in alcohol dehydrogenase and acetaldehyde dehydrogenase have been shown to confer protection, predominantly in individuals of East Asian ancestry. Population contamination with confounders such as drug co-dependence and psychiatric and physical co-morbidity may explain the essentially negative genome-wide association studies in this disorder. The familiality and hereditability of alcohol-related cirrhosis is not as well-documented but three strong candidate genes PNPLA3 , TM6SF2 and MBOAT7 , have been identified. The mechanisms by which variants in these genes confer risk and the nature of the functional interplay between them remains to be determined but, when elucidated, will undoubtedly increase our understanding of the pathophysiology of this disease. The way in which this genetic information could potentially inform patient management has yet to be determined and tested. [ABSTRACT FROM AUTHOR]

Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies. His mother had a bicornuate uterus, cervical incompetence, and minor anomalies of her hands and feet. This family was found to have the smallest reported deletion of 7p15.2 to date, and presented with features typical of Hand-Foot-Genital syndrome in the mother, but much more severe phenotype in her son. This deletion included the entire HOXA cluster in addition to the SKAP2 and EVX1 genes. An RT-PCR analysis was performed to determine the expression of the HOXA genes in the proband and to explore a parent-of-origin effect. Our expression studies did not support the hypothesis of an imprinted status of the HOXA2, HOXA3, HOXA5, and HOXA11 genes in peripheral blood. To our knowledge, this is the first familial 7p15.2 deletion. This family raises possibility for sexual dimorphism as a mechanism for phenotypic variability in patients with the HOXA gene cluster deletions. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The existence of dispersal syndromes contrasting disperser from resident phenotypes within populations has been intensively documented across taxa. However, how such suites of phenotypic traits emerge and are maintained is largely unknown, although deciphering the processes shaping the evolution of dispersal phenotypes is a key in ecology and evolution. In this study, we created artificial populations of a butterfly, in which we controlled for individual phenotypes and measured experimentally the roles of selection and genetic constraints on the correlations between dispersal- related traits: flight performance and wing morphology. We demonstrate that (i) trait covariations are not due to genetic correlations, (ii) the effects of selection are sex-specific, and (iii) both divergent and stabilizing selection maintain specific flight performance phenotypes and wing morphologies. Interestingly, some trait combinations are also favoured, depending on sex and fitness components. Moreover, we provide evidence for the role of (dis)assortative mating in the evolution of these dispersal-related traits. Our results suggest that dispersal syndromes may have high evolutionary potential, but also that they may be easily disrupted under particular environmental conditions. [ABSTRACT FROM AUTHOR]

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor-β1 (TGFβ1) gene on chromosome 19q13.1-13.3. Extremely variable penetrance has been reported to be associated with CED, the most common features of which are limb pain, waddling gait and muscle weakness. The present study reported on a consanguineous Chinese family with one affected individual that initially presented with exophthalmos, which has not previously been reported as an initial manifestation of CED. The proband was a 22-year-old woman that presented with progressive proptosis. Except for increased serum levels of alkaline phosphatase and C-terminal telopeptide of type I collagen, no other biochemical abnormalities were detected. Whole-body radiological and bone scintigraphic investigations revealed that hyperostosis and sclerosis predominantly affected the cranial bones, including the skull base, and only mildly affected the long bones. A heterozygous mutation involving a G to A transition at the cDNA position +653 of TGFβ1 was detected in the patient only, but not in her family members, by automated DNA sequencing using an ABI DNA sequencer (Model 377). Based on the clinical, biochemical, radiological and genetic findings, a diagnosis of CED was confirmed. Considering the phenotypic variability associated with CED and the unique manifestations of the patient described in the present study, CED should be taken into account regarding the differential diagnosis of exophthalmos. [ABSTRACT FROM AUTHOR]

The Murgese is a baroque-type horse breed from Southern Italy that is currently experiencing growing interest both at local and international level. The aim of the present work was to investigate the morphological evolution of withers height (WH), chest girth (CG) and cannon bone circumference (CBC) over the last four decades by using linear regression analysis, and to use a multiple-trait animal model with fixed effects (herd, sex, birth year) to estimate genetic parameters for the above traits in the Murgese horse population. A significant increase of WH (only in males), and decrease of CG and CBC over the considered period was observed, though no remarkable trend in genetic gain was observed for the above traits. Hereditability estimates were 0.27 (WH), 0.31 (CG) and 0.24 (CBC). Genetic correlations ranged 0.641 (CG×WH) to 0.709 (CG×CBC). The obtained results suggest that phenotypic selection has not had so far a large impact on the Murgese morphology, whose evolution over the last four decades seems more likely attributable to improvement in management practices. According with the obtained heritability estimates and the favorable genetic correlations, there is ground for the application of quantitative genetic selection for the considered morphometric traits. [ABSTRACT FROM AUTHOR]