RESUMEN

In this paper we focus on Hidalgoa, a small genus distributed in cloud forest from Mexico to Colombia with the uncommon climbing habit of enlarging its petioles. This genus belongs to tribe Coreopsideae (Asteraceae), a group mostly from the Neotropics with a few taxa in Oceania and Polynesia. The phylogenetic position of Hidalgoa has not yet been determined though it will most probably be closely related to Dahlia. The aim of this paper is to understand the ecological and evolutionary consequences of the shift to a climbing growth form using a spatio-temporal approach to phylogenetic analyses, and by testing evolutionary models for ecological niche. Our results identified that Hidalgoa formed a sub- clade in a grade with Dahlia, with divergence occurring in the Pliocene. The ancestral life form for this clade was cryptophytic (e.g. geophytes). Analyses using the climate variables most important to the elements of the Dahlia-Hidalgoa clade indicate that they share the same preferences. Moreover, visualization by traitgrams of the significant climate variables shows no departure among clades. These results suggest that no evolutionary or ecological consequences have yet manifested, and that Hidalgoa can be considered a climbing Dahlia.

Asunto(s)

Dahlia/fisiología , Emparejamiento Base/genética , Clima , Colombia , Dahlia/clasificación , Ecosistema , México , Modelos Biológicos , Filogenia , Polinesia , Análisis de Componente Principal , Especificidad de la Especie , Factores de Tiempo

RESUMEN

The effect of HLA-G 14 bp Ins/Del polymorphism (rs371194629) on the risk of preeclampsia has been assessed in several populations, yet the results are still conflicting. Lack of power due to small sample sizes is a common cause of inconsistencies in genetic association studies. We aimed to test whether the maternal polymorphism is associated with preeclampsia, eclampsia or HELLP syndrome (acronym for Hemolysis, Elevation of Liver enzymes, Low Platelets). To achieve a statistical power greater than 0.90, a total of 741 women (332 controls, 246 preeclampsia, 57 eclampsia and 106 HELLP) were genotyped for the 14-bp Ins/Del polymorphism. The genetic association with disease status was assessed by Fisher's exact test and odds ratio (OR) estimates using logistic regression model adjusted for maternal age and parity status. Allele and genotype distributions were the same between control and case groups (p > .05). The polymorphism was not associated with the risk of developing preeclampsia [OR = 0.93 (0.72-1.19); p = .541], or eclampsia [OR = 0.90 (0.60-1.38); p = .628] nor HELLP syndrome [OR = 0.92 (0.66-1.28); p = .628]. This well-powered study clearly demonstrates that the maternal HLA-G 14-bp Ins/Del polymorphism is not associated with preeclampsia risk. However, as the offspring genotypes were not evaluated here, we could not rule out the effect of the foetal genotype on the preeclampsia pathogenesis.

Asunto(s)

Emparejamiento Base/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Antígenos HLA-G/genética , Mutación INDEL/genética , Polimorfismo Genético , Preeclampsia/genética , Eliminación de Secuencia/genética , Adulto , Alelos , Femenino , Humanos , Modelos Logísticos , Edad Materna , Fenotipo , Embarazo , Factores de Riesgo , Adulto Joven

RESUMEN

Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45 chromosomes. Apart from the deletion of the MDS critical region, the deletion of additional distal genes seemed to have no major influence on the patient's phenotype, since he did not show any unusual clinical findings that are not commonly described in MDS patients.

Asunto(s)

Emparejamiento Base/genética , Deleción Cromosómica , Cromosomas Humanos Par 17/genética , Cromosomas Humanos Y/genética , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/genética , Translocación Genética , Análisis Citogenético , Humanos , Lactante , Masculino

RESUMEN

The curimbatá (Prochilodus lineatus) is one of the migratory species in the Paraná River Basin impacted by the construction of dams. Mitochondrial DNA sequences and random amplified polymorphic DNA (RAPD) fragments were used to investigate genetic variability and geographic structure of five populations of curimbatá from the Paraná River Basin. A total of 1815 bp from seven polymerase chain reaction-amplified fragments representing five protein-coding mitochondrial genes were sequenced from 12 individuals. Estimates of nucleotide sequence divergence ranged from 0.00 to 0.95%. A total of 86 RAPD markers from 58 individuals were detected. Results from the Fisher exact test indicated that P. lineatus is not genetically subdivided, although significant differences in the frequencies of a few RAPD fragments were observed. This study provides useful information for stocking and management programs for resource planning of P. lineatus.

Asunto(s)

Characiformes/genética , Variación Genética , Ríos , Animales , Composición de Base/genética , Emparejamiento Base/genética , Brasil , ADN Mitocondrial/genética , Geografía , Haplotipos/genética , Filogenia , Técnica del ADN Polimorfo Amplificado Aleatorio

RESUMEN

In the early Drosophila melanogaster embryo, the gene regulatory network controlled by Dpp signaling is involved in the subdivision of dorsal ectoderm into the presumptive dorsal epidermis and amnioserosa. In this work, we aimed to identify new Dpp downstream targets involved in dorsal ectoderm patterning. We used oligonucleotide D. melanogaster microarrays to identify the set of genes that are differential expressed between wild type embryos and embryos that overexpress Dpp (nos-Gal4>UAS-dpp) during early stages of embryo development. By using this approach, we identified 358 genes whose relative abundance significantly increased in response to Dpp overexpression. Among them, we found the entire set of known Dpp target genes that function in dorsal ectoderm patterning (zen, doc, hnt, pnr, ush, tup, and others) in addition to several up-regulated genes of unknown functions. Spatial expression pattern of up-regulated genes in response to Dpp overexpression as well as their opposing transcriptional responses to Dpp loss- and gain-of-function indicated that they are new candidate target genes of Dpp signaling pathway. We further analyse one of the candidate genes, CG13653, which is expressed at the dorsal-most cells of the embryo during a restricted period of time. CG13653 orthologs were not detected in basal lineages of Dipterans, which unlike D. melanogaster develop two extra-embryonic membranes, amnion and serosa. We characterized the enhancer region of CG13653 and revealed that CG13653 is directly regulated by Dpp signaling pathway.

Asunto(s)

Proteínas de Drosophila/genética , Drosophila melanogaster/embriología , Drosophila melanogaster/genética , Embrión no Mamífero/metabolismo , Perfilación de la Expresión Génica , Regulación del Desarrollo de la Expresión Génica , Transducción de Señal/genética , Animales , Emparejamiento Base/genética , Secuencia de Bases , Proteínas de Drosophila/metabolismo , Desarrollo Embrionario/genética , Elementos de Facilitación Genéticos/genética , Genes de Insecto , Mutación/genética , Análisis de Secuencia por Matrices de Oligonucleótidos , Reproducibilidad de los Resultados

RESUMEN

Spongospora subterranea is a soil-borne obligate parasite responsible for potato powdery scab disease. S. subterranea is a member of the order Plasmodiophorida, a protist taxa that is related to Cercozoa and Foraminifera but the fine details of these relationships remain unresolved. Currently there is only one available complete mtDNA sequence of a cercozoan, Bigelowiella natans. In this work, the mitochondrial sequence of a S. subterranea isolate infecting an Andean variety of S. tuberosum ssp. andigena (Diacol-Capiro) is presented. The mtDNA codes for 16 proteins of the respiratory chain, 11 ribosomal proteins, 3 ribosomal RNAs, 24 tRNAs, a RNA processing RNaseP, a RNA-directed polymerase, and two proteins of unknown function. This is the first report of a mtDNA genome sequence from a plasmodiophorid and will be useful in clarifying the phylogenetic relationship of this group to other members in the supergroup Rhizaria once more mtDNA sequences are available.

Asunto(s)

Genoma Mitocondrial , Genoma de Protozoos , Plasmodiophorida/genética , Solanum tuberosum/parasitología , Composición de Base/genética , Emparejamiento Base/genética , Secuencia de Bases , ADN Circular/genética , ADN Mitocondrial/genética , Sistemas de Lectura Abierta/genética , Enfermedades de las Plantas/parasitología , ARN de Transferencia/genética

RESUMEN

The non-classical class I human leukocyte antigen (HLA)-G molecule was found to be predominately expressed in the extravillous cytotrophoblasts at the fetal-maternal interface during pregnancy. This molecule is critically important for successful implantation during human pregnancy. The polymorphic insertion-deletion (indel) 14-base pair (bp) site localized at the 3' untranslated region was associated with HLA-G mRNA stability and isoform alternative splicing patterns, and thus may influence HLA-G function during pregnancy. We studied the association between the 14-bp indel polymorphism (rs16375) at the 3' untranslated region with recurrent spontaneous abortions in a Saudi population living in Riyadh. A group of 64 women with 2-11 successive abortions were included in this study. The control group included 62 women without reported abortions and at least 2 pregnancies, all visiting the King Khaled Hospital in Riyadh. The 14-bp indel was genotyped in the case and control groups. The frequency of the genotype +14/+14 was slightly higher in women with recurrent spontaneous abortions, but no significant differences were observed in the distribution of alleles and genotypes.

Asunto(s)

Aborto Habitual/genética , Emparejamiento Base/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Antígenos HLA-G/genética , Mutación INDEL/genética , Polimorfismo Genético , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Humanos , Embarazo

RESUMEN

Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to rule out any concomitant disorders. Blood samples were collected and genomic DNA was extracted. Potential mutations in the candidate gene alpha A crystallin (CRYAA) were screened. Prenatal diagnosis was then provided for a fetus of the affected proband by chorionic villus sampling. In all patients, DNA sequencing of the CRYAA gene revealed a novel 3-bp deletion mutation in exon 3 (c.246_248delCGC), which led to deletion of codon 117 encoding arginine (p.117delR) in the peptide chain. The same mutation was not found among unaffected and healthy individuals. Bioinformatic analysis revealed that although the c.246_248delCGC is an 'in-frame' mutation, removal of arginine resulted in a significant change in the protein structure. The fetus did not possess this mutation and was confirmed to be healthy at 1-year follow-up. A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts. This is also the first report of prenatal diagnosis of this type of congenital cataract.

Asunto(s)

Pueblo Asiatico/genética , Emparejamiento Base/genética , Catarata/congénito , Catarata/genética , Cristalinas/genética , Genes Dominantes , Eliminación de Secuencia/genética , Adulto , Secuencia de Bases , China , Biología Computacional , Femenino , Estudios de Seguimiento , Heterocigoto , Humanos , Recién Nacido , Masculino , Datos de Secuencia Molecular , Linaje

RESUMEN

The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.

Asunto(s)

Deleción Cromosómica , Cromosomas Humanos Par 6/genética , Análisis Citogenético , Padre , Patrón de Herencia/genética , Mutagénesis Insercional/genética , Hermanos , Adolescente , Emparejamiento Base/genética , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Masculino

Asunto(s)

Emparejamiento Base/genética , Técnicas de Genotipaje/métodos , Antígenos HLA-G/genética , Polimorfismo de Nucleótido Simple/genética , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Humanos

RESUMEN

OBJECTIVES: We investigated whether plasma chitotriosidase activity is related to Obstructive Sleep Apnea (OSA) conditions and is correlated with biochemical variables present in the EPISONO database. This is the first study conducted in an epidemiological and nutritional transition country using subjects from the EPISONO population-based cross-sectional study. DESIGN AND METHODS: Chitotriosidase (CHIT) activity was determined by fluorimetric assay. OSA classification was defined as an apnea-hypopnea index. The correlations were investigated using a multiple regression linear model and statistical criteria, with CHIT as the dependent variable and correlated variables (from the EPISONO database) as independent variables, to access the contribution of each one to the variation in CHIT activity. RESULTS: No significant difference was observed when comparing the mean CHIT activities of different apnea groups. The prevalence of the CHIT1 24-bp duplication from patients with severe apnea was higher than in controls. In a multiple regression linear model, CHIT concentration was positively associated with age, creatine and testosterone. Age was the strongest predictor of CHIT variation, followed by gender, waist circumference and TNFα levels. The whole regression model explained 14% of the CHIT variation. CONCLUSION: Many variables are related to CHIT activity and show evidence of the multifactor and potentially synergistic character of this enzyme. In this study, we found that age, gender, TNFα, Hcy, sleep efficiency and waist circumference were responsible for approximately 14% of CHIT variation. Further studies are needed to elucidate additional parameters that may be related to CHIT activity.

Asunto(s)

Emparejamiento Base/genética , Duplicación de Gen , Hexosaminidasas/genética , Adulto , Brasil , Estudios Transversales , Femenino , Hexosaminidasas/sangre , Humanos , Masculino , Persona de Mediana Edad , Apnea Obstructiva del Sueño/sangre , Apnea Obstructiva del Sueño/enzimología , Apnea Obstructiva del Sueño/genética , Estadísticas no Paramétricas

RESUMEN

Salt stress is a primary cause of crop losses worldwide, and it has been the subject of intense investigation to unravel the complex mechanisms responsible for salinity tolerance. MicroRNA is implicated in many developmental processes and in responses to various abiotic stresses, playing pivotal roles in plant adaptation. Deep sequencing technology was chosen to determine the small RNA transcriptome of Saccharum sp cultivars grown on saline conditions. We constructed four small RNAs libraries prepared from plants grown on hydroponic culture submitted to 170 mM NaCl and harvested after 1 h, 6 hs and 24 hs. Each library was sequenced individually and together generated more than 50 million short reads. Ninety-eight conserved miRNAs and 33 miRNAs* were identified by bioinformatics. Several of the microRNA showed considerable differences of expression in the four libraries. To confirm the results of the bioinformatics-based analysis, we studied the expression of the 10 most abundant miRNAs and 1 miRNA* in plants treated with 170 mM NaCl and in plants with a severe treatment of 340 mM NaCl. The results showed that 11 selected miRNAs had higher expression in samples treated with severe salt treatment compared to the mild one. We also investigated the regulation of the same miRNAs in shoots of four cultivars grown on soil treated with 170 mM NaCl. Cultivars could be grouped according to miRNAs expression in response to salt stress. Furthermore, the majority of the predicted target genes had an inverse regulation with their correspondent microRNAs. The targets encode a wide range of proteins, including transcription factors, metabolic enzymes and genes involved in hormone signaling, probably assisting the plants to develop tolerance to salinity. Our work provides insights into the regulatory functions of miRNAs, thereby expanding our knowledge on potential salt-stressed regulated genes.

Asunto(s)

Secuenciación de Nucleótidos de Alto Rendimiento/métodos , MicroARNs/genética , ARN de Planta/genética , Saccharum/genética , Cloruro de Sodio/farmacología , Estrés Fisiológico/genética , Transcriptoma/genética , Emparejamiento Base/genética , Secuencia de Bases , Biología Computacional , Secuencia Conservada/genética , Regulación de la Expresión Génica de las Plantas/efectos de los fármacos , Genes de Plantas/genética , Germinación/efectos de los fármacos , Germinación/genética , Hidroponía , MicroARNs/metabolismo , Hojas de la Planta/efectos de los fármacos , Hojas de la Planta/genética , Raíces de Plantas/efectos de los fármacos , Raíces de Plantas/genética , Brotes de la Planta/efectos de los fármacos , Brotes de la Planta/genética , ARN de Planta/metabolismo , Reproducibilidad de los Resultados , Saccharum/efectos de los fármacos , Saccharum/crecimiento & desarrollo , Salinidad , Estrés Fisiológico/efectos de los fármacos , Transcriptoma/efectos de los fármacos

RESUMEN

BACKGROUND AND AIMS: Plants growing at high densities perceive a decrease in the red to far-red (R/FR) ratio of incoming light. These changes in light quality trigger a suite of responses collectively known as the shade-avoidance syndrome (SAS) including hypocotyl and stem elongation, inhibition of branching and acceleration of flowering. METHODS: Quantitative trait loci (QTLs) were mapped for hypocotyl length to end-of-day far-red (EOD), a simulated shade-avoidance response, in recombinant inbred line (RIL) populations of Arabidopsis thaliana seedlings, derived from Landsberg erecta (Ler) and three accessions (Columbia, Col; Nossen, No-0; and Cape Verde Islands, Cvi-0). KEY RESULTS: Five loci were identified as being responsible for the EOD response, with a positive contribution of Ler alleles on the phenotype independently of the RIL population. Quantitative complementation analysis and transgenic lines showed that PHYB is the candidate gene for EODRATIO5 in the Ler × Cvi-0 RIL population, but not for two co-localized QTLs, EODRATIO1 and EODRATIO2 mapped in the Ler × No-0 and Ler × Col RIL populations, respectively. The ERECTA gene was also implicated in the SAS in a background-dependent manner. For hypocotyl length EOD response, a positive contribution of erecta alleles was found in Col and Van-0, but not in Ler, Cvi-0, Hir-1 or Ws. Furthermore, pleiotropic effects of ERECTA in the EOD response were also detected for petiole and lamina elongation, hyponastic growth, and flowering time. CONCLUSIONS: The results show that the analysis of multiple mapping populations leads to a better understanding of the SAS genetic architecture. Moreover, the background- and trait-dependent contribution of ERECTA in the SAS suggest that its function in shaded natural environments may be relevant for some populations in different phases of plant development. It is proposed that ERECTA is involved in canalization processes buffering the genetic variation of the SAS against environmental light fluctuations.

Asunto(s)

Proteínas de Arabidopsis/metabolismo , Arabidopsis/enzimología , Arabidopsis/fisiología , Proteínas Serina-Treonina Quinasas/metabolismo , Receptores de Superficie Celular/metabolismo , Arabidopsis/genética , Arabidopsis/efectos de la radiación , Proteínas de Arabidopsis/genética , Emparejamiento Base/genética , Cromosomas de las Plantas/genética , Ecotipo , Estudios de Asociación Genética , Pleiotropía Genética/efectos de la radiación , Variación Genética/efectos de la radiación , Genotipo , Hipocótilo/crecimiento & desarrollo , Hipocótilo/efectos de la radiación , Endogamia , Luz , Fitocromo B/genética , Proteínas Serina-Treonina Quinasas/genética , Sitios de Carácter Cuantitativo/genética , Carácter Cuantitativo Heredable , Receptores de Superficie Celular/genética

RESUMEN

Sugarcane (Saccharum spp.) is the most promising crop for renewable energy. Among the diverse stresses that affect plant productivity, drought stress frequently causes losses in sugarcane fields. Although several studies have addressed plant responses to drought using controlled environments, plant responses under field conditions are largely unknown. Recently, microRNA (miRNA)-mediated post-transcriptional regulation has been described as an important and decisive component in vegetal development and stress resistance modulation. The role of miRNAs in sugarcane responses to drought under field conditions is currently not known. Two sugarcane cultivars differing in drought tolerance were grown in the field with and without irrigation (rainfed) for 7 months. By using small RNA deep sequencing, we were able to identify 18 miRNA families comprising 30 mature miRNA sequences. Among these families, we found 13 mature miRNAs that were differentially expressed in drought-stressed plants. Seven miRNAs were differentially expressed in both cultivars. The target genes for many of the differentially expressed mature miRNAs were predicted, and some of them were validated by quantitative reverse transcription PCR. Among the targets, we found transcription factors, transporters, proteins associated with senescence, and proteins involved with flower development. All of these data increase our understanding of the role of miRNAs in the complex regulation of drought stress in field-grown sugarcane, providing valuable tools to develop new sugarcane cultivars tolerant to drought stress.

Asunto(s)

Sequías , MicroARNs/genética , Saccharum/genética , Saccharum/fisiología , Transcriptoma/genética , Emparejamiento Base/genética , Secuencia de Bases , Biología Computacional , Deshidratación , Perfilación de la Expresión Génica , Regulación de la Expresión Génica de las Plantas , Secuenciación de Nucleótidos de Alto Rendimiento , MicroARNs/metabolismo , Datos de Secuencia Molecular , Hojas de la Planta/genética , ARN de Planta/genética , ARN de Planta/metabolismo , Reproducibilidad de los Resultados , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Saccharum/crecimiento & desarrollo , Estrés Fisiológico/genética

RESUMEN

Nucleosome DNA packaging and positioning within the Drosophila melanogaster genome imposes a weak modulation, with a period of about 10 bp in the genomic composition correlations. We present formalism for extracting such modulations from an irreducible set of six correlation functions calculated along the D. melanogaster genome. These modulations were seen to be stronger for the irreducible self-correlation C(zz)(k) (strong-weak binding). Using an FFT procedure, we show that the period~10 modulation extracted from such self-correlation is viewed to be an oscillation with period~10.9 overmodulated by an oscillation with period~153. This behavior of the modulation reflects the organization of the eukaryotic genomic DNA. But, since the period~10 modulation dies for k ~150, the constraints imposed by the nucleosome arrangement over the nucleosome sequence composition must be weak, provided that such constraints are the sources for the modulations.

Asunto(s)

Emparejamiento Base/genética , Biología Computacional/métodos , ADN/genética , Drosophila melanogaster/genética , Genoma de los Insectos/genética , Animales , Secuencia de Bases , ADN Intergénico/genética , Exones/genética , Análisis de Fourier , Intrones/genética

RESUMEN

We investigated a possible association between alcoholism, cigarette smoking, obesity and CYP2E1 RsaI and 96-bp insertion genetic polymorphisms with risk for colorectal cancer (CRC). Patients with CRC (70 women and 61 men) were matched for gender and age to 206 healthy controls. The mean age of the two groups was 62 years. Meat intake, cigarette smoking and alcohol drinking were assessed using a specific frequency questionnaire. The body mass index was also calculated. DNA was extracted from peripheral blood; RsaI polymorphism genotypes were evaluated by PCR-RFLP and 96-bp insertion genetic polymorphisms were evaluated by specific primers. The distributions of CYP2E1 RsaI c1/c1, c1/c2 and c2/c2 genotypes were 90.2, 9.2 and 0.6%, respectively, in controls and 83.9, 13.7 and 2.4% in CRC cases. Allele c2 was associated with increased risk for CRC [odds ratio (OR) = 1.88, 95% confidence interval (95%CI) = 1.02-3.45]. The CYP2E1 RsaI c2/c2 genotype was associated with an increased risk for rectal cancer (OR = 3.23, 95%CI = 1.26-9.03). The 96-bp insertion was slightly more frequent in the CRC group (9.3 vs 11.4%, P = 0.19), especially in females (6.4 vs 11.5%, P = 0.34). Smoking, alcohol drinking or high intake of red meat and CYP2E1 polymorphisms were not associated with increased risk for CRC. The 96-bp insertion was marginally more frequent (P = 0.07) in undernourished CRC subjects. We concluded that the risk for CRC is higher among individuals with allele c2. The CYP2E1 RsaI c2/c2 genotype was associated with an increased risk for rectal cancer.

Asunto(s)

Emparejamiento Base/genética , Neoplasias Colorrectales/genética , Citocromo P-450 CYP2E1/genética , Desoxirribonucleasas de Localización Especificada Tipo II/metabolismo , Predisposición Genética a la Enfermedad , Mutagénesis Insercional/genética , Polimorfismo Genético , Índice de Masa Corporal , Estudios de Casos y Controles , Neoplasias Colorrectales/enzimología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo

RESUMEN

River buffalo genome analyses have advanced significantly in the last decade, and the genome sequence of Bubalus bubalis will be available shortly. Nonetheless, large-insert DNA library resources such as bacterial artificial chromosomes (BAC) are still required for validation and accurate assembly of the genome sequence. We constructed a river buffalo BAC library containing 52,224 clones with an average insert size of 97 kb, representing 1.7 × coverage of the genome. This genomic resource for river buffalo will facilitate further studies in this economically important species allowing for instance, whole genome physical mapping and isolation of genes and gene clusters, contributing to the elucidation of gene organization and identification of regulatory elements.

Asunto(s)

Búfalos/genética , Cromosomas Artificiales Bacterianos/genética , Biblioteca de Genes , Biología Molecular/métodos , Ríos , Animales , Emparejamiento Base/genética

RESUMEN

The dopamine D2 receptor (DRD2) is a crucial mediator for normal physiological processes. We cloned the pig DRD2 gene, investigated its distribution in tissues and identified polymorphisms by RT-PCR, quantitative real-time PCR and direct sequencing. Two Yorkshire pigs from Guangdong Academy of Agricultural Sciences (Guangzhou, China) were selected to clone the gene and investigate its expression; 16 individuals from four pig breeds (Yorkshire, Landrace, small-ear spotted, and Xinchang) were used to scan the variations. The two transcripts (DRD2L and DRD2S), obtained through insertion or deletion of exon 5 and part of 3'UTR, were found to encode 444- and 415-amino acid proteins, respectively. The 574-bp indel in 3'UTR comprises five miRNA targeting sites, based on bioinformatics predictions. The pig DRD2 gene expresses predominantly in the pituitary gland, and then in oviducts and the hypothalamus. Both DRD2L and DRD2S mRNA were detected in cerebrum, cerebellum, hypothalamus, pituitary gland, back muscle, oviduct, uterus, and testis tissues; DRD2L was more abundant than DRD2S. The DRD2 gene is located on chromosome 9 and contains seven exons. Sixty-one different sequences were identified in this gene; among seven in the coding region, only one altered the encoded amino acid. These findings will help us understand the functions of the DRD2 gene in pigs.

Asunto(s)

Cruzamiento , Regulación de la Expresión Génica , Variación Genética , Receptores de Dopamina D2/genética , Sus scrofa/genética , Regiones no Traducidas 3'/genética , Secuencia de Aminoácidos , Animales , Emparejamiento Base/genética , Secuencia de Bases , Sitios de Unión , China , Clonación Molecular , ADN Complementario/genética , Femenino , Perfilación de la Expresión Génica , Genoma/genética , Masculino , MicroARNs/genética , MicroARNs/metabolismo , Datos de Secuencia Molecular , Sistemas de Lectura Abierta/genética , Especificidad de Órganos/genética , Polimorfismo de Nucleótido Simple/genética , Unión Proteica/genética , Receptores de Dopamina D2/química , Eliminación de Secuencia/genética

RESUMEN

Evolutionary studies in plant and animal breeding are aimed at understanding the structure and organization of genetic variations of species. We have identified and characterized a genomic sequence in Phaseolus vulgaris of 1,200 bp (PvSHP1) that is homologous to SHATTERPROOF-1 (SHP1), a gene involved in control of fruit shattering in Arabidopsis thaliana. The PvSHP1 fragment was mapped to chromosome Pv06 in P. vulgaris and is linked to the flower and seed color gene V. Amplification of the PvSHP1 sequence from the most agronomically important legume species showed a high degree of interspecies diversity in the introns within the Phaseoleae, while the coding region was conserved across distant taxa. Sequencing of the PvSHP1 sequence in a sample of 91 wild and domesticated genotypes that span the geographic distribution of this species in the centers of origin showed that PvSHP1 is highly polymorphic and, therefore, particularly useful to further investigate the origin and domestication history of P. vulgaris. Our data confirm the gene pool structure seen in P. vulgaris along with independent domestication processes in the Andes and Mesoamerica; they provide additional evidence for a single domestication event in Mesoamerica. Moreover, our results support the Mesoamerican origin of this species. Finally, we have developed three indel-spanning markers that will be very useful for bean germplasm characterization, and particularly to trace the distribution of the domesticated Andean and Mesoamerican gene pools.

Asunto(s)

Productos Agrícolas/genética , Genes de Plantas/genética , Variación Genética , Nucleótidos/genética , Phaseolus/genética , Emparejamiento Base/genética , Secuencia de Bases , América Central , Mapeo Cromosómico , ADN Intergénico/genética , Ligamiento Genético , Marcadores Genéticos , Genética de Población , Mutación INDEL/genética , Datos de Secuencia Molecular , Filogeografía , Dinámica Poblacional , Carácter Cuantitativo Heredable , Recombinación Genética/genética , América del Sur , Especificidad de la Especie

RESUMEN

BACKGROUND AND OBJECTIVE: Although certain serotypes of Aggregatibacter actinomycetemcomitans are associated more with aggressive periodontitis than are other serotypes, the correlation between distinct lineages and virulence traits in this species is poorly understood. This study aimed to evaluate the polymorphism of genes encoding putative virulence factors of clinical isolates, and to correlate these findings with A. actinomycetemcomitans serotypes, genotypes and periodontal status of the hosts. MATERIAL AND METHODS: Twenty-six clinical isolates from diverse geographic populations with different periodontal conditions were evaluated. Genotyping was performed using pulse-field gel electrophoresis. Polymorphisms in the genes encoding leukotoxin, Aae, ApaH and determinants for serotype-specific O polysaccharide were investigated. RESULTS: The isolates were classified into serotypes a-f, and exhibited three apaH genotypes, five aae alleles and 25 macrorestriction profiles. Two serotype b isolates (7.7%), obtained from Brazilian patients with aggressive periodontitis, were associated with the highly leukotoxic genotype; these isolates showed identical fingerprint patterns and aae and apaH genotypes. Serotype c, obtained from various periodontal conditions, was the most prevalent among Brazilian isolates, and isolates were distributed in two aae alleles, but formed a genetically distinct group based on apaH analysis. Cluster analysis showed a close relationship between fingerprinting genotypes and serotypes/apaH genotypes, but not with aae genotypes. CONCLUSION: Apart from the deletion in the ltx promoter region, no disease-associated markers were identified. Non-JP2-like strains recovered from individuals with periodontal disease exhibited considerable genetic variation regarding aae/apaH genotypes, serotypes and XhoI DNA fingerprints.

Asunto(s)

Infecciones por Actinobacillus/microbiología , Aggregatibacter actinomycetemcomitans/patogenicidad , Variación Genética/genética , Periodontitis/microbiología , Factores de Virulencia/genética , Adhesinas Bacterianas/genética , Aggregatibacter actinomycetemcomitans/clasificación , Aggregatibacter actinomycetemcomitans/genética , Periodontitis Agresiva/microbiología , Alelos , Proteínas de la Membrana Bacteriana Externa/genética , Toxinas Bacterianas/genética , Emparejamiento Base/genética , Periodontitis Crónica/microbiología , Dermatoglifia del ADN , Desoxirribonucleasas de Localización Especificada Tipo II/genética , Exotoxinas/genética , Genotipo , Humanos , Antígenos O/genética , Índice Periodontal , Bolsa Periodontal/microbiología , Periodoncio/microbiología , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , Serotipificación