Genetic diversity and paternity of Brycon orbignyanus offspring obtained for different reproductive systems

The objective of this study was to estimate the genetic diversity and the paternity of Brycon orbignyanus offspring's obtained with the extrusion and semi-natural reproductive systems, by microsatellites markers. The four loci used produced 11 alleles, being observed three alleles (BoM1, BoM5 and BoM7) and two alleles (BoM2) for locus present in the parental and in the offspring of both reproductive systems. In the offspring of the extrusion system low frequency alleles was observed for the locus BoM5 (allele B = 0.095) and BoM7 (allele C = 0.059) and there was a decrease of genetic variability (observe heterozygosity-Ho = 0.900 and 0.823; Shannon index-IS = 0.937 and 0.886; Nei genetic diversity-DGN = 0.604 and 0.566, respectively). For the offspring of the semi-natural system the allele frequencies stayed stable being verified an unequal frequency for each locus. The genetic variability in the offspring was preserved, being corroborated by the Ho values (0.975 and 0.945), IS (0.927 and 0.924) and DGN (0.593 and 0.581) for parental and offspring, respectively. Deviations were observed (P <0.01) in the Hardy-Weinberg equilibrium and linkage disequilibrium for the two reproductive systems. The inbreeding coefficient (Fis) it showed deficit of heterozygote in the offspring of the extrusion system. Multiple paternity and differed reproductive contributions in the composition of the families in the offspring in the two reproductive systems was observed, with the presence of reproductive dominance in the semi-natural system.O objetivo do presente estudo foi avaliar a diversidade genética e a paternidade de progênies de Brycon orbignyanus obtidas pelos sistemas reprodutivos por extrusão e seminatural, através do marcador microssatélite. Os quatro loci utilizados produziram 11 alelos, sendo observados três alelos (BoM1, BoM5 e BoM7) e dois alelos (BoM2) por locus presentes nos parentais e na progênie de ambos sistemas reprodutivos. Na progênie do sistema por extrusão foram observados alelos de baixa frequência para os locus BoM5 (alelo B = 0,095) e BoM7 (alelo C = 0,059) e houve uma diminuição da variabilidade genética (Heterozigosidade observada-Ho = 0,900 e 0,823; Índice de Shannon-IS = 0,937 e 0,886; diversidade genética de Nei-DGN = 0,604 e 0,566, respectivamente). Na progênie do sistema seminatural as frequências dos alelos se mantiveram estáveis, sendo verificada uma frequência desigual para cada locus. A variabilidade genética foi preservada, sendo corroborado pelos valores de Ho (0,975 e 0,945), IS (0,927 e 0,924) e DGN (0,593 e 0,581) para parentais e progênie, respectivamente. Observaramse desvios (P&lt;0.01) no equilíbrio de Hardy-Weinberg e desequilíbrio de ligação nos dois sistemas reprodutivos. O coeficiente de endogamia (Fis) mostrou déficit de heterozigotos na progênie do sistema por extrusão. Observou-se paternidade múltipla e contribuição reprodutiva diferenciada na composição das famílias na progênie nos dois sistemas reprodutivos, com a presença de dominância reprodutiva no sistema seminatural.Facultad de Ciencias Exacta

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Diversidad genética de Piaractus mesopotamicus utilizado en programas de repoblación.

Nowadays it has been verified the decrease and the disappearance of many fish species in several aquatic environments in the Brazil. As form of minimizing that impact, stocking programs come being used with more intensity, meantime, little importance has been given to the genetic variability, fundamental parameter for any conservation practices. The objective of this study was to analyze the genetic diversity of Piaractus mesopotamicus stocks used in stocking programs, through the RAPD molecular marker. Sixty broodstocks of two fish farms stations located in the Sapopema (S) and Cambará (C) cities in the Paraná State (Brazil) and 30 larvae of the Sapopema offspring (PS) were analyzed. The 10 selected primers yielded 69 fragments of which 62 (89.85%) were polymorphic. Differences (pActualmente se ha verificado la disminución y desaparición de muchas especies de peces en varios ambientes acuáticos en el Brasil. Como forma de minimizar ese impacto, programas de repoblación vienen siendo utilizados con más intensidad, entretanto, se le ha dado poca importancia a la variabilidad genética, parámetro fundamental para cualquier práctica de conservación. El objetivo de este estudio fue analizar la diversidad genética de lotes de Piaractus mesopotamicus usados en programas de repoblación, mediante el marcador molecular RAPD. Se analizaron 60 reproductores de dos estaciones de piscicultura ubicadas en las ciudades de Sapopema (S) y Cambará (C) en el Estado del Paraná (Brasil) y 30 larvas de la progenie del lote de Sapopema (PS). Los 10 oligonucleótidos seleccionados produjeron 69 fragmentos de los cuales 62 (89,85%) fueron polimórficos. Fueron observadas diferencias (

Caracterización genética de lotes de "Brycon orbignyanus" utilizados en programas de repoblamiento

Objetivo. Caracterizar geneticamente dos lotes y una progenie de Brycon orbignyanus destinados para programas de repoblamiento, utilizando la tecnica molecular de RAPD (Random amplified polymorphic DNA). Materiales y metodos. Se analizaron 58 reproductores originarios de dos piscicolas ubicadas en las ciudades de Castillo (A:30 individuos) y Porto Ferreira (C:28 individuos), mantenidos en cautiverio hace seis anos en la estacion de acuicultura e hidrologia de la Duke Energy Internacional (Geracao Paranapanema) (Sao Paulo-Brasil). Treinta larvas de la progenie del lote A (B) tambien se analizaron. Resultados. Los 14 primers usados produjeron 87 fragmentos de los cuales 70.11% fueron polimorficos. Fueron observadas diferencias (p.0.05) en la frecuencia de 31 fragmentos, con tres exclusivos para el lote A. Los valores de divergencia, distancia e identidad genetica mostraron que la diversidad genetica del lote A fue mantenida en la progenie y que existe una baja diferenciacion entre los lotes de reproductores. El analisis de variancia molecular mostro que la mayor parte de la variacion esta dentro de cada lote (87.45%) y no entre ellos (12.55%). Este resultado se corroboro con los valores de FST (0.125) y con el dendrograma, que indicaron una moderada diferenciacion genetica, sin la formacion de agrupamientos. Conclusiones. La diversidad genetica fue preservada en la progenie debido al manejo eficiente de la reproduccion. No hubo una diferenciacion genetica entre los lotes de reproductores, debido posiblemente a que el origen natural de ambos fue el rio Parana.Objective. To genetically characterize two Brycon orbignyanus stocks and one progeny intended for restocking programs using the molecular technique RAPD (Random Amplified Polymorphic DNA). Materials and methods. Fifty eight broodstocks native to two fish farms in the cities of Castilho (A:30 individuals) and Porto Ferreira (C:28 individuals) were analyzed. The fish had been maintained for six years in captivity in the aquaculture and hydrology station of Duke Energy International (Geracao Paranapanema. Sao Paulo - Brazil); thirty larvae of progeny from the stock A (B) were also analyzed. Results. The fourteen primers used produced 87 fragments of which 70.11% were polymorphic. Differences were observed (p.0.05) in the frequency of 31 fragments, with three exclusive from stock A. The values for divergence, distance and genetic identity showed that genetic diversity of stock A was maintained in progeny and that a low differentiation exists among reproductive stocks. Analysis of Molecular variance showed that most of the variation is inside each stock (87.45%) and not between them (12.55%). This result was corroborated with FST (0.125) values and with the dendrogram indicating a moderate genetic differentiation, without cluster formation. Conclusions. Genetic variability was maintained in progeny, possibly because both were native to the Parana rive

Monitoramento da variabilidade genética de pacu, Piaractus mesopotamicus, do programa de aumento de estoque do rio Paranapanema

Avaliou-se a variabilidade genética dos estoques de reprodutores e dos peixes jovens de Piaractus mesopotamicus de três pisciculturas do estado do Paraná, utilizadas no programa de aumento de estoque de peixes no rio Paranapanema. Foi utilizado o marcador RAPD para avaliar as amostras do estoque de reprodutores e dos peixes jovens das pisciculturas de Palotina, Cambará e Andirá. A porcentagem de fragmentos polimórficos e o índice de diversidade genética de Shannon dos estoques de reprodutores variaram de 75,0% a 71,4% e de 0,434 a 0,376, respectivamente. Os peixes jovens das pisciculturas apresentaram valores mais elevados para ambos os parâmetros, com exceção da piscicultura de Palotina, na qual o índice de diversidade genética de Shannon foi semelhante. Os estoques de reprodutores apresentaram alta variabilidade genética, e esta foi mantida nos peixes jovens.The genetic variability of broodstocks and juveniles of Piaractus mesopotamicus raised in three hatchery stations in Parana state, that were used in the fish stock enhancement program of the Paranapanema River, was estimated. The RAPD marker was used to evaluate samples taken from broodstocks and juveniles in the hatchery stations of Palotina, Cambará, and Andirá cities. The percentage of polymorphic fragments and the Shannon genetic diversity index of broodstocks ranged from 75.0% to 71.4% and from 0.434 to 0.376, respectively. The juveniles of the hatchery stations presented higher values for both parameters, except in the hatchery station of Palotina in which the Shannon genetic diversity index was similar. The broodstocks presented high genetic variability, and this was maintained in the juveniles