ARTICLE 1 – research

REVISIÓN DE LA DISPLASIA ECTODÉRMICA HIPOHIDRÓTICA: DIAGNÓSTICO, TRATAMIENTOS Y TERAPIAS GÉNICAS
HYPOHIDROTIC ECTODERMAL DYSPLASIA: A REVIEW ON DIAGNOSIS, TREATMENT, AND GENE THERAPIES

Herrador T.A., Migotti J.S.

Hypohidrotic ectodermal dysplasia (HED) is a genodermatosis caused by a monogenic defect that affects the protein ectodysplasin in tissues derived from the ectoderm. Depending on the transmission mechanism, we can distinguish three types of HED: autosomal recessive, autosomal dominant and linked to the X chromosome (this being the most frequent). Although the phenotypic expression varies according to which gene is affected, all forms of HED share three clinical characteristics: hypodontia, hypohidrosis and hypothricosis. The conventional treatments have the objective of improving the patient’s quality of life, and include dental interventions such as orthodontics and dental implants, dermatological routines for dry skin, and the use of artificial sweat. In recent years, scientific research has focused on genetic engineering to treat HED, developing new promising strategies such as gene therapy with recombinant EDA1, or ER004, developed by Schneider, H. and colleagues. In someclinical trials this strategy effectively reversed clinical manifestations of the disease. Throughout the review we will address HED’s symptoms, tools for the correct diagnosis, available treatments and considerations for the differential diagnosis.

Key words: ectodysplasin, ER004, genetic engineering, recombinant protein
Language: Spanish

ARTICLE 2 – research

INFLUENCE OF DEMOGRAPHIC PARAMETERS AND DIETARY HABITS ON THE CYTOME ASSAY BIOMARKERS IN LYMPHOCYTES AND BUCCAL EPITHELIAL CELLS FROM A GROUP OF ARGENTINE ADOLESCENTS
INFLUENCIA DE PARÁMETROS DEMOGRÁFICOS Y HÁBITOS ALIMENTARIOS SOBRE BIOMARCADORES DEL ENSAYO CITOMA EN LINFOCITOS Y CÉLULAS EPITELIALES BUCALES DE ADOLESCENTES ARGENTINOS

Martínez Perafán F., Casciaro S., López Nigro M.M., Carballo M.A.

The use of the cytome assay in monitoring studies on children has increased in recent years. For this reason, it is necessary to know the role of possible confounding factors that could affect its outcomes. The objective was to evaluate the influence of some demographic variables and diet on the baseline values of the cytome assay biomarkers in lymphocytes and buccal mucosa cells from a group of Argentine adolescents. Following the calculation of the biomarkers, a multivariate regression analysis including confounders was performed. In lymphocytes it was observed that micronuclei (MNi) had a negative association with a moderate consumption of roots and tubers, while the number of nuclear buds (NBUDs) was higher in minors not exposed to second-hand smoke (SHS). Regarding epithelial cells, MNi had a negative relationship with the intake of tropical fruits and red meat; on the contrary, this parameter increased with the moderate ingestion of legumes. In addition, oral NBUDs had a positive association with citrus and red meat consumption, whereas cereals and oil decreased its frequency. Furthermore, an increased number of binucleated cells was observed for adolescents who ate white meat and an increase in pyknotic cells for those exposed to SHS. These results revealed that in adolescents the baseline level of the cytome assay biomarkers, especially of those related to genotoxicity, can be influenced by exogenous variables, for instance, dietary habits. Thus, such factors need to be considered when carrying out biomonitoring studies on child populations.

Key words: baseline values, CBMN-cyt, confounding factors, individual food preferences, young population
Language: English

ARTICLE 3 – research

RANDOM FOREST IN PLANT GENETICS AND BREEDING: AN APPLICATION IN TOMATO AS A MODEL CROP
RANDOM FOREST EN GENÉTICA Y MEJORAMIENTO GENÉTICO DE PLANTAS: UNA APLICACIÓN EN TOMATE COMO CULTIVO MODELO

Faviere G., Vitelleschi M.S., Pratta G.R.

Random Forest approaches have been used in phenotyping at both morphological and metabolic levels and in genomics studies, but direct applications in practical situations of plant genetics and breeding are scarce. Random Forest was compared with Discriminant Analysis for its ability in classifying tomato individuals belonging to different breeding populations, exclusively based on phenotypic fruit quality traits. In order to take into account different steps in breeding programs, two populations were assayed. One was composed by a set of RILs derived from an interspecific tomato cross, and the other was composed by two of these RILs and the corresponding F₁, F₂ and backcross generations. Being tomato an autogamous species, the first population was considered a final step in breeding programs because promising genotypes are being evaluated for putative commercial release as new cultivars. Meanwhile, the second one, in which new variation is being generated, was considered as an initial step. Both Random Forest and Discriminant Analysis were able to classify populations with the aim of evaluating general variability and identifying the traits that most contribute to this variability. However, overall errors in classification were lower for Random Forest. When comparing the adequacy of classification between populations, errors of both statistical analyses were greater in the second population than in the first one, though Random Forest was more precise than Discriminant Analysis even in this initial step of plant breeding programs. Random Forest allowed breeders to get a reliable classification of tomato individuals belonging to different breeding populations.

Key words: discriminant analysis, Machine Learning, parametric and non-parametric classification techniques, phenotype identification, traits categorization
Language: English

ARTICLE 4 – research

DEVELOPMENT OF GENETIC STOCKS OF SUNFLOWER WITH RESISTANCE TO SUNFLOWER CHLOROTIC MOTTLE VIRUS
CONFORMACIÓN DE RECURSOS GENÉTICOS DE GIRASOL CON RESISTENCIA AL VIRUS DEL MOTEADO CLORÓTICO DEL GIRASOL

Fernández Moroni I., Lenardon S., Giolitti F., Álvarez D., Poverene M., Presotto A., Cantamutto M.

The common race of sunflower chlorotic mottle virus (SCMoV-C) can cause severe yield losses in susceptible genotypes of sunflowers if infection occurs at early plant stages. In Argentina, SCMoV-C is widespread in sunflower production fields and even if its incidence is generally low, in some cases it can reach up to 95%. To date, no complete resistance to SCMoV-C has been detected in commercial cultivars. In the search for resistant germplasm, wild sunflower (Helianthus annuus L.) populations from Argentina were tested, as they were exposed to natural selective pressure during their naturalization. After artificial inoculation with SCMoV-C, symptom-free plants were selected and grown for controlled self-pollination, sibling crosses and crosses with inbred lines. Recurrent selection for non-symptomatic plants and self-fertility significantly increased the frequency of asymptomatic individuals after SCMoV-C inoculation in the development germplasm. After eight generations of recurrent selection and controlled crosses, four genetic stocks with complete SCMoV-C resistance were developed. These genetic stocks could be used for breeding programs and genetic studies. The genetic stocks were registered in the Active Sunflower Germplasm Bank of the National Institute of Agricultural Technology (INTA, EEA-Manfredi), for maintenance and public distribution.

Key words: germplasm, Helianthus annuus, potyvirus, pre-breeding.
Language: English

MEMOIR

Dr. Néstor Oscar Bianchi
1931-2023