Reservas genéticas de especies silvestres de papa en áreas protegidas: notas de prospección del Parque Nacional Los Cardones, Salta, Argentina

Wild potato species (WPS) are vital genetic resources to improve the productivity and sustainability of the third most important food crop worldwide. Although in situ conservation of this germplasm has been considered the most appropriate strategy, establishment of Genetic Reserves is still incipient. Northwest Argentina is among the priority regions for establishing WPS Genetic Reserves, whose designation within Protected Areas is accepted as the most efficient approach. In this work, we present results of the prospection and collection of WPS in Los Cardones National Park, a Protected Area with high environmental heterogeneity and diversity of plant communities. Four wild and one cultivated potato species were identified in different physiognomic vegetation units: Solanum acaule, S. brevicaule, S. boliviense, S. vernei and S. tuberosum group Andigenum. In the four WPS, characters of interest for plant breeding have been described. Through the development of environmental education workshops and the monitoring over two consecutive years within a worldwide priority site, we have established a baseline on which in situ conservation will be projected to preserve an essential component of the natural and cultural America's patrimony.Las especies silvestres de papa (ESP) son recursos genéticos vitales para mejorar la productividad y sustentabilidad del tercer cultivo alimenticio en importancia mundial. Aunque su conservación in situ se ha considerado la estrategia más adecuada, el establecimiento de Reservas Genéticas es aún incipiente. El Noroeste Argentino figura entre las regiones prioritarias para establecer Reservas Genéticas de ESP, cuya designación dentro de Áreas Protegidas es aceptada como el enfoque más eficiente. En este trabajo presentamos resultados de la prospección y colecta de ESP en el Parque Nacional Los Cardones, un Área Protegida con una alta heterogeneidad ambiental y diversidad de comunidades vegetales. Cuatro especies silvestres y una cultivada de papa fueron identificadas en distintas unidades fisonómicas de vegetación: Solanum acaule, S. brevicaule, S. boliviense, S. vernei y S. tuberosum grupo Andigenum. En las cuatro ESP se han descripto caracteres de interés para el fitomejoramiento. A través del desarrollo de talleres de educación ambiental y del monitoreo durante dos años consecutivos dentro de un sitio prioritario a nivel mundial, establecimos una línea de base sobre la que se proyectará la conservación in situ para preservar un componente indispensable del patrimonio natural y cultural de América.EEA BalcarceFil: Kozub, Perla Carolina. Universidad Nacional de Cuyo. Facultad de Ciencias Agrarias; Argentina.Fil: Ibañez, Verónica Noé. Universidad Nacional de Cuyo. Facultad de Ciencias Agrarias; Argentina.Fil: Digilio, Ariana. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Atencio, Hugo Marcelo. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Atencio, Hugo Marcelo. Universidad Nacional de Mar del Plata. Facultad de Ciencias Agrarias; Argentina.Fil: Garavano, María Eugenia. Universidad Nacional de Mar del Plata. Facultad de Ciencias Agrarias; Argentina.Fil: Sánchez, María Elena. Ministerio de Ambiente y Desarrollo Sostenible de la Nación. Administración de Parques Nacionales; Argentina.Fil: Marfil, Carlos Federico. Universidad Nacional de Cuyo. Facultad de Ciencias Agrarias; Argentina

Wild potato Genetic Reserves in Protected Areas: prospection notes from Los Cardones National Park, Salta, Argentina

Wild potato species (WPS) are vital genetic resources to improve the productivity and sustainability of the third most important food crop worldwide. Although in situ conservation of this germplasm has been considered the most appropriate strategy, establishment of Genetic Reserves is still incipient. Northwest Argentina is among the priority regions for establishing WPS Genetic Reserves, whose designation within Protected Areas is accepted as the most efficient approach. In this work, we present results of the prospection and collection of WPS in Los Cardones National Park, a Protected Area with high environmental heterogeneity and diversity of plant communities. Four wild and one cultivated potato species were identified in different physiognomic vegetation units: Solanum acaule, S. brevicaule, S. boliviense, S. vernei and S. tuberosum group Andigenum. In the four WPS, characters of interest for plant breeding have been described. Through the development of environmental education workshops and the monitoring over two consecutive years within a worldwide priority site, we have established a baseline on which in situ conservation will be projected to preserve an essential component of the natural and cultural America's patrimony. Highlights Northwest Argentina is a priority region to develop in situ conservation programs of potato wild relatives. Los Cardones National Park is a Genetic Reserve in which primary and secondary gene pool of the cultivated potato could be conserved. Solanum acaule, S. boliviense, S. brevicaule and S. vernei were surveyed, monitored and collected in different physiognomic vegetation units within the Los Cardones National Park. A baseline with distribution data and phenological stages of populations of the four wild potato species was established. Communication, education and awareness activities related to the conservation of wild potatoes species and landraces were carried out.Wild potato species (WPS) are vital genetic resources to improve the productivity and sustainability of the third most important food crop worldwide. Although in situ conservation of this germplasm has been considered the most appropriate strategy, establishment of Genetic Reserves is still incipient. Northwest Argentina is among the priority regions for establishing WPS Genetic Reserves, whose designation within Protected Areas is accepted as the most efficient approach. In this work, we present results of the prospection and collection of WPS in Los Cardones National Park, a Protected Area with high environmental heterogeneity and diversity of plant communities. Four wild and one cultivated potato species were identified in different physiognomic vegetation units: Solanum acaule, S. brevicaule, S. boliviense, S. vernei and S. tuberosum group Andigenum. In the four WPS, characters of interest for plant breeding have been described. Through the development of environmental education workshops and the monitoring over two consecutive years within a worldwide priority site, we have established a baseline on which in situ conservation will be projected to preserve an essential component of the natural and cultural America's patrimony. Highlights Northwest Argentina is a priority region to develop in situ conservation programs of potato wild relatives. Los Cardones National Park is a Genetic Reserve in which primary and secondary gene pool of the cultivated potato could be conserved. Solanum acaule, S. boliviense, S. brevicaule and S. vernei were surveyed, monitored and collected in different physiognomic vegetation units within the Los Cardones National Park. A baseline with distribution data and phenological stages of populations of the four wild potato species was established. Communication, education and awareness activities related to the conservation of wild potatoes species and landraces were carried out

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements [RETRACTED]

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals. We found a significant association (FDR p < 0.05) of the CTD subset with 62 common variants in a single linkage disequilibrium (LD) block in a 350 kb interval harboring CRKL. A total of 45 of the 62 variants were associated with increased risk for CTDs (odds ratio [OR) ranges: 1.64-4.75). Associations of four variants were replicated in a meta-analysis of three genome-wide association studies of CTDs in affected individuals without 22q11.2DS. One of the replicated variants, rs178252, is located in an open chromatin region and resides in the double-elite enhancer, GH22J020947, that is predicted to regulate CRKL (CRK-like proto-oncogene, cytoplasmic adaptor) expression. Approximately 23% of patients with nested LCR22C-D deletions have CTDs, and inactivation of Crkl in mice causes CTDs, thus implicating this gene as a modifier. Rs178252 and rs6004160 are expression quantitative trait loci (eQTLs) of CRKL. Furthermore, set-based tests identified an enhancer that is predicted to target CRKL and is significantly associated with CTD risk (GH22J020946, sequence kernal association test (SKAT) p = 7.21 × 10-5) in the 22q11.2DS cohort. These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained in part by variants affecting CRKL expression

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (padj = 6.73 × 10−6). Novel reciprocal case–control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

INTRODUCTION AND HYPOTHESIS:Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this genetic condition the dimensions of the pulmonary arteries (PAs) never were specifically evaluated. We measured both PAs diameter in patients with 22q11.2DS without cardiac defects, comparing these data to a normal control group. Moreover, we measured the PAs diameter in Tbx1 mutant mice. Finally, a cell fate mapping in Tbx1 mutants was used to study the expression of this gene in the morphogenesis of PAs. METHODS:We evaluated 58 patients with 22q11.2DS without cardiac defects. The control group consisted of 54 healthy subjects, matched for age and sex. All cases underwent a complete transthoracic echocardiography. Moreover, we crossed Tbx1+/- mice and harvested fetuses. We examined the cardiovascular phenotype of 8 wild type (WT), 37 heterozygous (Tbx1+/-) and 6 null fetuses (Tbx1-/-). Finally, we crossed Tbx1Cre/+mice with R26RmT-mG Cre reporter mice to study Tbx1 expression in the pulmonary arteries. RESULTS:The echocardiographic study showed that the mean of the LPA/RPA ratio in 22q11.2DS was smaller (0.80 ± 0.12) than in controls (0.97 ± 0.08; p < 0.0001). Mouse studies resulted in similar data as the size of LPA and RPA was not significantly different in WT embryos, but in Tbx1+/- and Tbx1-/- embryos the LPA was significantly smaller than the RPA in both mutants (P = 0.0016 and 0.0043, respectively). We found that Tbx1 is expressed near the origin of the PAs and in their adventitia. CONCLUSIONS:Children with 22q11.2DS without cardiac defects show smaller LPA compared with healthy subjects. Mouse studies suggest that this anomaly is due to haploinsufficiency of Tbx1. These data may be useful in the clinical management of children with 22q11.2DS and should guide further experimental studies as to the mechanisms underlying PAs development

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

INTRODUCTION AND HYPOTHESIS: Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this genetic condition the dimensions of the pulmonary arteries (PAs) never were specifically evaluated. We measured both PAs diameter in patients with 22q11.2DS without cardiac defects, comparing these data to a normal control group. Moreover, we measured the PAs diameter in Tbx1 mutant mice. Finally, a cell fate mapping in Tbx1 mutants was used to study the expression of this gene in the morphogenesis of PAs. METHODS: We evaluated 58 patients with 22q11.2DS without cardiac defects. The control group consisted of 54 healthy subjects, matched for age and sex. All cases underwent a complete transthoracic echocardiography. Moreover, we crossed Tbx1+/- mice and harvested fetuses. We examined the cardiovascular phenotype of 8 wild type (WT), 37 heterozygous (Tbx1+/-) and 6 null fetuses (Tbx1-/-). Finally, we crossed Tbx1Cre/+mice with R26RmT-mG Cre reporter mice to study Tbx1 expression in the pulmonary arteries. RESULTS: The echocardiographic study showed that the mean of the LPA/RPA ratio in 22q11.2DS was smaller (0.80 ± 0.12) than in controls (0.97 ± 0.08; p < 0.0001). Mouse studies resulted in similar data as the size of LPA and RPA was not significantly different in WT embryos, but in Tbx1+/- and Tbx1-/- embryos the LPA was significantly smaller than the RPA in both mutants (P = 0.0016 and 0.0043, respectively). We found that Tbx1 is expressed near the origin of the PAs and in their adventitia. CONCLUSIONS: Children with 22q11.2DS without cardiac defects show smaller LPA compared with healthy subjects. Mouse studies suggest that this anomaly is due to haploinsufficiency of Tbx1. These data may be useful in the clinical management of children with 22q11.2DS and should guide further experimental studies as to the mechanisms underlying PAs development