Phenotypic Resemblance Research Articles

Kin investment biases of aunts and uncles: associations with phenotypic resemblance and sociodemographic characteristics.

Higher investment in maternal than paternal aunts and uncles is explained by the "paternity uncertainty hypothesis". Regardless of laterality, however, aunts show a greater degree of investment than uncles, which is attributed to sex-specific reproductive strategies. Resemblance cues can be used as indicators of genetic relatedness. The central hypothesis of the current study was that perceived phenotypic resemblance between aunts/uncles and niblings would be associated with aunts' and uncles' investment. The association was predicted to be stronger with respect to patrilateral than matrilateral aunts and uncles and stronger with respect to patrilateral aunts than patrilateral uncles. 243 Iranians aged between 15 and 50 participated in a retrospective analysis and filled out a 52-item questionnaire focusing on the solicitude, emotional closeness, and contact frequency between aunts/uncles and their nephews/nieces. In addition, the participants had to rate their phenotypic resemblance with their aunts and uncles. Aunts' and uncles' solicitude, emotional closeness, and contact frequency were differentially expressed according to sex and laterality. Maternal aunts showed the significantly highest emotional closeness, contact frequency, and investment, while the opposite was true for paternal uncles. Moreover, investment was correlated with phenotypic resemblance. Such association was stronger for patrilateral than matrilateral aunts and uncles, and concerning solicitude it was stronger for patrilateral aunts than patrilateral uncles. The resemblance-based kin recognition mechanism among aunts and uncles was self- rather than family-referent. In conclusion, phenotypic similarity can be used as a cue to genetic kinship and is correlated with the investment of aunts and uncles. However, such associations also depend on the degree of genetic relatedness and the differential kin investment provided by each sex.

Alike but genetically divergent: The resurrection of Urotrygon asterias (Jordan & Gilbert, 1883) from its closest relatives, the Munda and the Blotched stingray.

The genus Urotrygon comprises small- to medium-sized endemic round rays on the American continent and has undergone several synonymization processes. Here, we used an integrative taxonomic approach, including meristic, morphometric, and mtDNA analyses, to resolve the particularly intricate relationship among Urotrygon munda Gill, 1863, Urotrygon chilensis (Günther, 1872), and Urotrygon asterias (Jordan & Gilbert, 1883). The latter species is currently a synonym of U. munda but is also considered the U. chilensis "northern morphotype." These taxonomic entities have historically been confounded, mainly due to their phenotypical resemblance along their geographic distribution in the eastern Pacific. We assessed 78 specimens (43 "northern" and 30 "southern morphotypes" of U. chilensis, as well as 5 U. munda) using 19 external variables for taxonomic and morphometric analysis. Distinct meristic patterns, including pectoral and pelvic ceratotrichia, vertebrae number, and thorn distribution along the dorsal midline, were observed in the series-type specimens of the three taxonomic entities. Our multivariate morphometric analyses consistently differentiated the three groups as distinct taxonomic entities, with an overall classification accuracy of 66.7%. The meristic results also provided reliable information distinguishing the three entities. Based on the nicotinamide adenine dinucleotide (NADH2) and cytochrome oxidase subunit I (COI) genes, our phylogenetic analysis were consistent with the morphometric and meristic data, supporting these three entities as distinct species having their own evolutionary lineages. Our comprehensive approach confidently demonstrated that the northern U. chilensis morphotype matched and corresponded to the description of the Starry round ray, U. asterias, confirming its taxonomic resurrection as a valid species distinct from U. chilensis and U. munda. The geographic distribution of U. asterias spans from the tropical west coast of Mexico (including the Gulf of California) to Costa Rica, revealing that microevolutionary processes have well-defined population clades within this range. Furthermore, U. chilensis is unequivocally established as the sole Urotrygon species occurring south of the Guayaquil marine ecoregion. In addition, the public COI and NADH2 sequences available for Urotrygon hosted in the ad hoc online databases were found to be misidentified, emphasizing the need for rigorous taxonomic scrutiny in this group. Finally, our research underscores the significance of an integrative approach that combines morphometric, meristic, and molecular techniques with historical data to disentangle the complexities of closely related taxa.

Navigating diagnostic challenges—distinguishing malignant melanoma and clear cell sarcoma of soft tissues: a case report and review of the literature

BackgroundWithin the spectrum of melanocytic-differentiated tumors, the challenge faced by pathologists is discerning accurate diagnoses, with clear cell sarcoma of soft tissues standing out as a rare and aggressive neoplasm originating from the neural crest. Accounting for 1% of all soft tissue sarcomas, clear cell sarcoma of soft tissues poses diagnostic complexities, often misidentified owing to its phenotypic resemblance to malignant melanoma. This chapter delves into the intricacies of clear cell sarcoma of soft tissues, its epidemiology, characteristic manifestations, and the imperative need for a comprehensive diagnostic approach involving immunohistochemical and molecular analyses.Case presentationA compelling case unfolds as a 25-year-old male from Morocco, initially misdiagnosed with malignant melanoma, experiences tumor recurrence on the second toe. With no history of trauma or familial neoplasia, the patient’s clinical journey is explored, emphasizing the importance of detailed clinical examinations and radiological assessments. The chapter elucidates the histopathological findings, immunohistochemical spectrum, and the correlation between clinical parameters and diagnostic inference, ultimately leading to metatarsal amputation. This clinical vignette highlights the multidimensional diagnostic process in soft tissue neoplasms, emphasizing the synergistic role of clinical, radiological, and histopathological insights.ConclusionThe diagnostic challenges inherent in melanocytic-differentiated tumors, exemplified by the rarity of soft tissue clear cell sarcoma, underscore the essential role of an integrated diagnostic approach. This concluding chapter emphasizes the perpetual collaboration required across pathology, clinical medicine, and radiology for nuanced diagnostic precision and tailored therapeutic strategies. The rarity of these soft tissue malignancies necessitates ongoing interdisciplinary engagement, ensuring the optimization of prognosis and treatment modalities through a comprehensive understanding of the diagnostic intricacies presented by clear cell sarcoma of soft tissues.

Taking after a parent: Phenotypic resemblance and the professional familialisation of genomics.

This article draws on 2years' worth of ethnographic observation of team meetings to explore decision-making in an NHS clinical genomics service. The focus of discussions was on ambiguous genomic results known as VUS or Variants of Uncertain Significance, which may be pathogenic but which also may turn out to be benign. In examining decision-making around such results, we note how, in contrast to much policy and promotional material in this area, clinicians in these meetings (clinical geneticists and genetic counsellors) place great emphasis on parental phenotypes and whether the parents of a patient share the symptoms and signs of the suspected condition. This information is then combined with the result of genomic tests to decide whether the variant a patient has is responsible for their condition. This article explores the way in which clinicians attempt to flexibly enrol parents into genomic explanations through informal diagnosis of their possible phenotypes and the way in which actually meeting parents allows some clinicians to trump explanations based on documentary or photographic data. The paper sheds light on the way that earlier scholarly understandings of such decisions (around, say dysmorphology) remain relevant and explores claims that laboratory tests overrule clinical decision-making.

Exploring genetic diversity of Dahlia (Dahlia variabilis Desf.) germplasm using multivariate statistics

Dahlia (Dahlia variabilis) is a tuberous-rooted flower crop, exhibiting rich diversity in flower color and inflorescence form. The study was conducted to quantify diversity in 24 dahlia genotypes based on agronomic traits. The dahlia accessions were grouped based on their similarity for phenotypic resemblance following hierarchal clustering and principal component analysis (PCA). The hierarchical cluster analysis grouped the dahlia accessions into three distinct clusters viz., C1, C2 and C3 comprising 8, 3 and 13 genotypes, respectively. The 24 dahlia genotypes were found scattered across the whole variation observed by PC1 and PC2 (explaining nearly 55.2% of the cumulative total variation). The two-dimensional PCA analysis revealed that the most appropriate traits for grouping the dahlia accessions were plant height, flower weight, stalk length, vase life and number of flowers per plant. The study signifies the importance of germplasm collection, characterization and utilization of dahlia to popularize its commercial cultivation among the flower growers.

Familiality of the Intelligence Quotient in First Episode Psychosis: Is the Degree of Family Resemblance Associated With Different Profiles?

There is uncertainty about the relationship between the family intelligence quotient (IQ) deviation and the risk for schizophrenia spectrum disorders (SSD). This study tested the hypothesis that IQ is familial in first episode psychosis (FEP) patients and that their degree of familial resemblance is associated with different profiles. The participants of the PAFIP-FAMILIAS project (129 FEP patients, 143 parents, and 97 siblings) completed the same neuropsychological battery. IQ-familiality was estimated through the Intraclass Correlation Coefficient (ICC). For each family, the intra-family resemblance score (IRS) was calculated as an index of familial similarity. The FEP patients were subgrouped and compared according to their IRS and IQ. IQ-familiality was low-moderate (ICC = 0.259). A total of 44.9% of the FEP patients had a low IRS, indicating discordancy with their family-IQ. Of these patients, those with low IQ had more schizophrenia diagnosis and a trend towards poorer premorbid adjustment in childhood and early adolescence. Whereas FEP patients with low IQ closely resembling their family-IQ were characterized by having the lowest performance in executive functions. The deviation from the familial cognitive performance may be related to a particular pathological process in SSD. Individuals with low IQ who do not reach their cognitive familial potential show difficulties in adjustment since childhood, probably influenced by environmental factors. Instead, FEP patients with high phenotypic family resemblance might have a more significant genetic burden for the disorder.

The mechanism of assortative mating for educational attainment: a study of Finnish and Dutch twins and their spouses.

Introduction: Assortative mating refers describes a phenomenon in which individuals with similar phenotypic traits are more likely to mate and reproduce with each other; i.e. assortative mating occurs when individuals choose partners based on their similarity or dissimilarity in certain traits.to patterns of non-random mating of spouses leading to phenotypic resemblance. There are various theories about the its underlying mechanisms, which have different genetic consequences. Methods: We analyzed examined two possible mechanisms underlying assortative mating - phenotypic assortment and social homogamy - for educational attainment in two countries utilizing data of mono- and dizygotic twins and their spouses (1,451 Finnish and 1,616 Dutch twin-spouse pairs). Results: The spousal correlations were 0.51 in Finland and 0.45 in the Netherlands, to which phenotypic assortment contributed 0.35 and 0.30, and social homogamy 0.16 and 0.15, respectively. Conclusion: Both social homogamy and phenotypic assortment are important processes in spouse selection in Finland and the Netherlands. In both countries, phenotypic assortment contributes to a greater degree to the similarity of spouses than social homogamy.

Rewiring of catecholamine-induced calcium signalling is an early event in non-alcoholic fatty liver disease.

Non-alcoholic fatty liver disease (NAFLD) is a global health problem without approved pharmacological treatment (Riazi et al., 2022). Mechanistically, excessive accumulation of triglycerides in hepatocytes due to increased de novo lipogenesis and decreased β-oxidation constitutes an early defining feature in the pathogenesis of NAFLD. Emerging evidence of the last 20 years assigned a central role in the regulation of hepatic energy homeostasis to calcium signalling (Oliva-Vilarnau et al., 2018). However, information about molecular events preceding the onset of hepatic steatosis are limited. The study by Brumer et al. (2023) convincingly demonstrates changes in catecholamine-induced inositol 1,4,5-trisphosphate (IP3) production and calcium signalling in mouse liver after short-term exposure to high fat diet (HFD) before the apparition of histological changes. Lying at the root of these early changes are liver-resident alpha-1B adrenergic receptors (α1BARs) that play a role in glycaemic control, as well as carbohydrate and lipid homeostasis. α1BARs are G protein-coupled receptors (GPCRs) that activate Gαq/11 following the binding of catecholamines such as norepinephrine. Once active, Gαq/11 kicks off a signalling cascade involving phospholipase C (PLC) that is directly involved in the production of IP3 and diacylglycerol (DAG) from phosphatidylinositol 4,5-bisphosphate. Then, IP3 diffuses to the endoplasmic reticulum where it binds the IP3 receptor resulting in the mobilization of calcium, an important second messenger in human physiology. The reduction in calcium mobilization upon HFD did not result from an inhibition of the sarco/endoplasmic reticulum calcium ATPase (SERCA) or store-operated Ca2⁺ channel (SOC) activity. Nor was any difference observed in the expression or distribution of the key signalling components α1BAR, Gαq, PLCβ3, IP3R, SERCA. Instead, Brumer et al. (2023) showed that short-term exposure to HFD affected the amount of IP3 that is generated by PLC, which results in lower IP3R activity and limited release of calcium from intracellular stores. Taken together, these findings shed new light on the early events that lead to NAFLD and may facilitate the development of therapeutics that rescue this hormone-induced calcium signalling axis. However, further work is needed to address the molecular basis for the decrease in IP3 production. One possibility could be a reduced ability of α1BARs to efficiently activate Gαq/11. Although the expression and distribution of α1BARs and Gαq/11 remained unchanged after short-term HFD, differences in membrane fatty acid composition can allosterically affect the ability of GPCRs to effectively exchange the GDP in the Gα subunit with GTP (Dawaliby et al., 2016). This would result in fewer active GTPGαq/11 available to bind PLC. Similarly, membrane lipid composition can affect the localization of PLC and the availability of calcium can affect its catalytic activity. Yet another explanation could come from the generation of DAG through hepatic lipogenesis that activates novel protein kinase C (PKC) isoforms in the absence of calcium mobilization, resulting in PKC-dependent desensitization of GPCR-dependent calcium signalling. Moving forward, it will be important to show that the observed phenomena also occur in human hepatocytes in order to narrow the translational gap. Of relevance in this context could be the wealth of organotypic hepatocyte culture methods that have emerged in recent years, which allow the accurate emulation of hepatic steatosis and its progression to inflammation and fibrosis (Ramos et al., 2022). Although not specifically evaluated yet, their overall phenotypic and molecular resemblance to steatotic liver fuels hopes that also hormonally controlled Ca2⁺ oscillations are preserved in these systems. Combined, the finding that high-fat diet rapidly curbs GPCR-dependent PLC activation, resulting in perturbed Ca2⁺ transients and suppressed propagation of trans-lobular Ca2⁺ waves, opens new avenues for the pharmacological exploration of new mechanisms that target NAFLD onset. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. VML is co-founder, CEO and a shareholder of HepaPredict AB, as well as chairman of the board and shareholder of PersoMedix AB. SCW declares no competing interests. S.W. and V.L. were responsible for the conception or design of the work, drafting the work or revising it critically for important intellectual content, and final approval of the version to be published. Both authors agree to be accountable for all aspects of the work. S.C.W. is supported by a fellowship from the Swedish Society for Medical Research (P18-0098; PD20-0153). V.M.L. is supported by the Swedish Research Council (grant agreement numbers 2019-01837 and 2021-02801), by the EU/EFPIA/OICR/McGill/KTH/Diamond Innovative Medicines Initiative 2 Joint Undertaking (EUbOPEN grant number 875510), by the Swedish Strategic Research Programme in Diabetes (SFO Diabetes) and Stem Cells and Regenerative Medicine (SFO StratRegen), and by the Robert Bosch Foundation, Stuttgart, Germany.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

BackgroundCockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. MethodsWe ascertained five individuals with monoallelic pathogenic variants in MORC2, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type 2Z; a syndrome of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy; and a rare form of spinal muscular atrophy. ResultsOne of these individuals bore a strong phenotypic resemblance to CS. We then identified monoallelic pathogenic MORC2 variants in three of five genetically unsolved individuals with a clinical diagnosis of CS. In total, we identified eight individuals with MORC2-related disorder, four of whom had clinical features strongly suggestive of CS. ConclusionsOur findings indicate that some forms of MORC2-related disorder have phenotypic similarities to CS, including features of accelerated aging. Unlike classic DNA repair disorders, MORC2-related disorder does not appear to be associated with a defect in transcription-coupled nucleotide excision repair and follows a dominant pattern of inheritance with variants typically arising de novo. Such de novo pathogenic variants present particular challenges with regard to both initial gene discovery and diagnostic evaluations. MORC2 should be included in diagnostic genetic test panels targeting the evaluation of microcephaly and/or suspected DNA repair disorders. Future studies of MORC2 and its protein product, coupled with further phenotypic characterization, will help to optimize the diagnosis, understanding, and therapy of the associated disorders.

Cancer immunotherapies transition endothelial cells into HEVs that generate TCF1+ T lymphocyte niches through a feed-forward loop.

The lack of Tcell infiltrates is a major obstacle to effective immunotherapy in cancer. Conversely, the formation of tumor-associated tertiary-lymphoid-like structures (TA-TLLSs), which are the local site of humoral and cellular immune responses against cancers, is associated with good prognosis, and they have recently been detected in immune checkpoint blockade (ICB)-responding patients. However, how these lymphoid aggregates develop remains poorly understood. By employing single-cell transcriptomics, endothelial fate mapping, and functional multiplex immune profiling, we demonstrate that antiangiogenic immune-modulating therapies evoke transdifferentiation of postcapillary venules into inflamed high-endothelial venules (HEVs) via lymphotoxin/lymphotoxin beta receptor (LT/LTβR) signaling. In turn, tumor HEVs boost intratumoral lymphocyte influx and foster permissive lymphocyte niches for PD1- and PD1+TCF1+ CD8 Tcell progenitors that differentiate into GrzB+PD1+ CD8T effector cells. Tumor-HEVs require continuous CD8 and NK cell-derived signals revealing that tumor HEV maintenance is actively sculpted by the adaptive immune system through a feed-forward loop.

Development and characterization of patient-derived salivary gland cancer organoid cultures

ObjectiveThree-dimensional organoid cell cultures have been established for a variety of human cancers. For most rare cancers, including salivary gland cancer (SGC), these models are lacking, despite the great unmet need to study cancer biology in these diseases. Therefore, we aimed to develop patient-derived organoid (PDO) models for different subtypes of SGC. MethodsTumor samples of SGC patients were processed and embedded in Matrigel. Successful PDOs (expandable > 1*106 cells) were phenotypically characterized using immunohistochemistry (IHC) and genotypically by gene fusion analysis and by targeted and whole-exome sequencing. Successfully established PDOs were subjected to small-scale drug screening. ResultsOut of 37 attempts, 7 viable short-term PDOs were established (19 % success rate; 3 salivary duct carcinoma, 3 adenoid cystic carcinoma and 1 mucoepidermoid carcinoma). Each PDO showed close phenotypical mimicry to parental tissue. Genotypic characterization revealed that in each PDO > 97.6 % of all COSMIC annotated variants and all MYB, MYBL1 and NFIB gene rearrangements were retained. Drug screening was proven feasible in all PDOs. ConclusionWe present the first comprehensively characterized short-term SGC PDO models for three subtypes of SGC with close phenotypic and genotypic resemblance to parental tissue, which can be used for drug screening applications.

The interplay between father-adolescent phenotypic resemblance and interparental conflict in predicting harsh discipline.

Phenotypic resemblance refers to the degree of physical and behavioral similarity between parent and child. Evolutionary approaches to the determinants of parenting have consistently found father-child phenotypic resemblance to serve as a risk factor for harsh discipline, but we still know little about the mechanisms underlying these associations. To address this gap in the literature, the present study employed a mediated moderation model to understand how interparental conflict and dysfunctional child-oriented attributions for children's misbehavior can help explain associations between father-child phenotypic resemblance and harsh discipline during the period of adolescence. Participants included 151 parents of adolescents (Mage = 12.3, range = 12-14) recruited from a northeastern region in the United States. Fathers reported on father-child phenotypic resemblance, interparental conflict, dysfunctional child-oriented attributions, and harsh discipline. Structural equation modeling analyses revealed a significant moderating role of interparental conflict in amplifying associations between phenotypic resemblance and harsh discipline in a for-better-and-for-worse manner over a 1-year period. In support of mediated moderation, we further found that the interaction between phenotypic resemblance and interparental conflict in predicting harsh discipline was partially accounted for by increases in dysfunctional child-oriented attributions over a 1-year period, which in turn, was associated with harsh discipline concurrently. Findings are discussed within evolutionary and developmental frameworks. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Angiosarcomas of the head and neck: Impact of large data analysis on clinical management.

Angiosarcoma is a rare but often fatal malignancy from blood and lymphatic vessels that can arise anywhere in the body and often affects the head and neck region. Although its dismal prognosis is predominantly explained by its aggressive biology, several secondary factors contribute to poor outcomes. These include a phenotypic resemblance to innocuous blood vessel lesions, which contributes to a significant degree of late diagnosis. Another important factor is the rarity of angiosarcoma, which has impaired scientific determination of its optimal treatment significantly. As a result, treatment of angiosarcomas has largely been guided by information derived from the study of sarcomas at large, themselves a highly heterogeneous group of mesenchymal cancers both from a diagnostic as well as therapeutical perspective. The Digital Revolution and resultant Information Age promise to transform the clinical management of rare cancers from a generic to a more customized approach. In this paper, we review the current understanding of head and neck angiosarcomas within the context of this process.

Shedding light on taxonomic chaos: Diversity and distribution of South Asian skipper frogs (Anura, Dicroglossidae, Euphlyctis)

A known haven of amphibian diversity, South Asia is also a hotspot of taxonomic confusions. Vastly distributed from Saudi Arabia to Myanmar, the dicroglossid genus Euphlyctis (“skittering” or “skipper” frogs) is a representative example. Combining phylogenetic analyses with 16S barcoding and genome size variation of 403 frogs from 136 localities, we examined genetic diversity and distributions across the whole range of Euphlyctis, with a particular focus on taxonomic and nomenclatural issues. We recovered two deeply divergent mitochondrial clades totalling ten lineages that we considered as species, and eight could be attributed valid taxonomic names and junior synonyms. The first clade (subgenus Phrynoderma) is confirmed in South India, Bangladesh and Sri Lanka, and comprises six species: E. karaavali, E. hexadactyla, E. aloysii, E. kerala and two undescribed taxa. Five are endemic to the Western Ghats biodiversity hotspot and four of them form the E. aloysii species complex. The second clade (subgenus Euphlyctis) extends across South Asia and neighbouring regions, and comprises four species: E. ehrenbergii, E. jaladhara, and two widespread lineages erroneously called “E. mudigere” and “E. kalasgramensis” in recent literature, while their oldest valid names appear to be E. cyanophlyctis and E. adolfi, respectively. Additional analyses on this pair of taxa highlighted strong phenotypic resemblance, notable intraspecific phylogeographic structure, and an extensive contact zone along the southern slopes of the Himalaya, with putative signs of genetic introgression. Through an independent investigation of the historical literature, we identified overlooked issues and misconceptions regarding the status of many old and recent taxa, and proposed solutions, such as transferring “E. ghoshi” to the genus Limnonectes. Our study illustrates how range-wide genetic barcoding can clarify taxonomic confusions, and we call to solve remaining issues prior to the description of new taxa.

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient's phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the literature, we suggest that pathogenic variants in this gene are associated with a Cockayne-like phenotype.

Discrimination of Panax ginseng from counterfeits using single nucleotide polymorphism: A focused review.

Discrimination of plant species, cultivars, and landraces is challenging because plants have high phenotypic and genotypic resemblance. Panax ginseng is commonly referred to as Korean ginseng, which contains saponins with high efficacy on cells, and has been reported to be worth billions in agroeconomic value. Korean ginseng’s increasing global agroeconomic value includes additional species and cultivars that are not Korean ginseng but have physical characteristics close to it. This almost unidentifiable physical characteristic of Korean ginseng-like species is discriminated via molecular markers. Single nucleotide polymorphism (SNP), found across the plant species in abundance, is a valuable tool in the molecular mapping of genes and distinguishing a plant species from adulterants. Differentiating the composition of genes in species is quite evident, but the varieties and landraces have fewer differences in addition to single nucleotide mismatch. Especially in the exon region, there exist both favorable and adverse effects on species. With the aforementioned ideas in discriminating ginseng based on molecular markers, SNP has proven reliable and convenient, with advanced markers available. This article provides the simplest cost-effective guidelines for experiments in a traditional laboratory setting to get hands-on SNP marker analysis. Hence, the current review provides detailed up-to-date information about the discrimination of Panax ginseng exclusively based on SNP adding with a straightforward method explained which can be followed to perform the analysis.

Ecological specialization and reproductive isolation among closely related sympatric ant-eating spiders.

Biological divergence results from several mechanisms. Defensive mechanisms, such as Batesian mimicry, can cause reproductive isolation via temporal segregation in foraging activity, particularly, in species that closely associate with their model. This seems to be the case of ant-eating spiders, which can be inaccurate Batesian mimics of their prey. Here, we focused on Zodarion nitidum, which has two forms occurring in sympatry, black and yellow. Given the expected noticeable impact of their colour differences on the spiders' interactions with their potential predators and prey, we investigated whether these morphotypes have diverged in other aspects of their biology. We measured the two morphotypes' phenotypic resemblance to a mimetic model, tested whether they were protected from predators, investigated their circadian activity, surveyed the prey they hunted, modelled their distributions, performed crossing experiments and estimated their degree of genetic differentiation. We found that the black morphotype is ant-like, resembling Messor ants, and it was not distinguishable from their ant models by four potential predators. In contrast, the yellow morphotype seems to use predator avoidance as a defensive strategy. Additionally, the two morphotypes differ in their circadian activity, the yellow morphotype being nocturnal and the black one being diurnal. The two morphotypes hunt and associate with different ant prey and possess marked differences in venom composition. Finally, crossing trials showed complete pre-mating isolation between the two morphotypes, but there was no evidence of genetic (mitochondrial data) or environmental niche differentiation. We conclude that the two morphotypes show evidence of a deep differentiation in morphological, behavioural, physiological and ecological traits that evolved together as part of the spider's diverging lifestyles.

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with short stature, brachydactyly, stiff joints, and hypermuscularity. Similarly, pathogenic variants in the fibrillin‐2 gene (FBN2) cause either a Marfanoid congenital contractural arachnodactyly or a FBN2‐related acromelic dysplasia that most prominently presents with brachydactyly. The phenotypic and molecular resemblances between both the FBN1 and FBN2‐related disorders suggest that reciprocal pathomechanistic lessons can be learned. In this review, we provide an updated overview and comparison of the phenotypic and mutational spectra of both the “tall” and “short” fibrillinopathies. The future parallel functional study of both FBN1/2‐related disorders will reveal new insights into how pathogenic fibrillin variants differently affect the fibrillin microfibril network and/or growth factor homeostasis in clinically opposite syndromes. This knowledge may eventually be translated into new therapeutic approaches by targeting or modulating the fibrillin microfibril network and/or the signaling pathways under its control.

Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.

Pathogenic variants in USP9X, on X chromosome, have been implicated in syndromic intellectual disability (ID) in both males and females with distinct craniofacial features. We report a truncating variant, c.885_889delAAAAG, p.(Lys296Serfs*4), in the USP9X gene with incomplete penetrance in two nontwin female siblings with phenotypic resemblance to female-specific syndromic ID (MIM 300969, also known as MRX99F). To investigate the possible genetic etiology of the reduced penetrance, X-inactivation, RNA-Seq, and full quad exome analyses were attempted, but failed to identify a promising candidate modifier. While the penetrance of pathogenic variants in USP9X in female appears to be high (95%) and the variants frequently occur de novo, incomplete penetrance should be considered.

Does grandpa care, too? - Discriminative grandparental investment is associated with phenotypic resemblance and sociodemographic parameters in an Austrian sample.

Typical patterns of discriminative grandparental investment i.e. high investment provided by the maternal grandmother and low investment provided by the paternal grandfather, are mainly interpreted based on the "paternity uncertainty hypothesis". Accordingly, especially paternal grandfathers are confronted with a double risk of investing in genetically unrelated grandchildren. The present study focuses on the impact of phenotypic resemblance between parents and grandparents on grandparental investment. 94 female and 83 male participants aged 19 to 40 years (x = 27.4; SD = 5.8) were enrolled in the retrospective analysis. An online questionnaire, specifically developed for this study, was used for data collection. In line with predictions, the highest investment, contact frequency and best relationship were found for maternal grandmothers, while paternal grandfathers showed the lowest investment patterns. Phenotypic resemblance between parents and grandfathers enhanced grandfathers' investment significantly, but resemblance had no effect in the case of maternal grandmothers. We conclude that phenotypic similarities can be interpreted as indicators of genetic relatedness and therefore increase grandparental investment among those grandparents, who are confronted with paternity uncertainty, i.e. paternal grandmother and maternal as well as paternal grandfather.