Heritability estimates and genome-wide association study of methane emission traits in Nellore cattle.

The objectives of the present study were to estimate the heritability for daily methane emission (CH4) and residual daily methane emission (CH4res) in Nellore cattle, as well as to perform genome-wide association studies (GWAS) to identify genomic regions and candidate genes influencing the genetic variation of CH4 and CH4res. Methane emission phenotypes of 743 Nellore animals belonging to 3 breeding programs were evaluated. CH4 was measured using the sulfur hexafluoride (SF6) tracer technique (which involves an SF6 permeation tube introduced into the rumen, and an appropriate apparatus on each animal), and CH4res was obtained as the difference between observed CH4 and CH4 adjusted for dry matter intake. A total of 6,252 genotyped individuals were used for genomic analyses. Data were analyzed with a univariate animal model by the single-step GBLUP method using the average information restricted maximum likelihood (AIREML) algorithm. The effects of single nucleotide polymorphisms (SNPs) were obtained using a single-step GWAS approach. Candidate genes were identified based on genomic windows associated with quantitative trait loci (QTLs) related to the 2 traits. Annotation of QTLs and identification of candidate genes were based on the initial and final coordinates of each genomic window considering the bovine genome ARS-UCD1.2 assembly. Heritability estimates were of moderate to high magnitude, being 0.42 ±â€…0.09 for CH4 and 0.21 ±â€…0.09 for CH4res, indicating that these traits will respond rapidly to genetic selection. GWAS revealed 11 and 15 SNPs that were significantly associated (P < 10-6) with genetic variation of CH4 and CH4res, respectively. QTLs associated with feed efficiency, residual feed intake, body weight, and height overlapped with significant markers for the traits evaluated. Ten candidate genes were present in the regions of significant SNPs; 3 were associated with CH4 and 7 with CH4res. The identified genes are related to different functions such as modulation of the rumen microbiota, fatty acid production, and lipid metabolism. CH4 and CH4res presented sufficient genetic variation and may respond rapidly to selection. Therefore, these traits can be included in animal breeding programs aimed at reducing enteric methane emissions across generations.

Genetic selection designed to reduce the amount of enteric methane emission from livestock is a mitigation strategy to ensure more sustainable production over generations since genetic gains are cumulative. Brazil is a large producer of beef, and the Nellore breed (Bos taurus indicus) plays a very important role in this production. There are a few studies evaluating genetic and genomic aspects of enteric methane emission in Nellore cattle. The objectives of the present study were to estimate the heritability of daily methane emission (CH4) and residual daily methane emission (CH4res) in Nellore cattle, as well as to identify genomic regions and candidate genes associated with genetic variation of these traits. The heritability estimates for CH4 and CH4res were of moderate to high magnitude (0.42 ±â€…0.09 and 0.21 ±â€…0.09, respectively). Genome-wide association analyses revealed new loci associated with methane emission in Nellore cattle on chromosomes 5, 11, 17, and 20, where 10 candidate genes were identified, 3 for CH4 and 7 for CH4res. The 2 traits possess sufficient genetic variability to be included as selection criteria in breeding programs.

The chromosome-scale genome and the genetic resistance machinery against insect herbivores of the Mexican toloache, Datura stramonium.

Plant resistance refers to the heritable ability of plants to reduce damage caused by natural enemies, such as herbivores and pathogens, either through constitutive or induced traits like chemical compounds or trichomes. However, the genetic architecture-the number and genome location of genes that affect plant defense and the magnitude of their effects-of plant resistance to arthropod herbivores in natural populations remains poorly understood. In this study, we aimed to unveil the genetic architecture of plant resistance to insect herbivores in the annual herb Datura stramonium (Solanaceae) through quantitative trait loci mapping. We achieved this by assembling the species' genome and constructing a linkage map using an F2 progeny transplanted into natural habitats. Furthermore, we conducted differential gene expression analysis between undamaged and damaged plants caused by the primary folivore, Lema daturaphila larvae. Our genome assembly resulted in 6,109 scaffolds distributed across 12 haploid chromosomes. A single quantitative trait loci region on chromosome 3 was associated with plant resistance, spanning 0 to 5.17 cM. The explained variance by the quantitative trait loci was 8.44%. Our findings imply that the resistance mechanisms of D. stramonium are shaped by the complex interplay of multiple genes with minor effects. Protein-protein interaction networks involving genes within the quantitative trait loci region and overexpressed genes uncovered the key role of receptor-like cytoplasmic kinases in signaling and regulating tropane alkaloids and terpenoids, which serve as powerful chemical defenses against D. stramonium herbivores. The data generated in our study constitute important resources for delving into the evolution and ecology of secondary compounds mediating plant-insect interactions.

Genome-wide association study of host resistance to the ectoparasite Ichthyophthirius multifiliis in the Amazon fish Colossoma macropomum.

BACKGROUND: Tambaqui, Colossoma macropomum, is the most important native fish species farmed in South America, particularly in Brazil, where its production is limited in the southern and southeastern regions due to disease outbreaks caused by the parasite Ichthyophthirius multifiliis. Therefore, genome level analysis to understand the genetic architecture of the host resistance against I. multifiliis is fundamental to improve this trait in tambaqui. The objective of the present study was to map QTL (quantitative trait loci) associated with resistance to I. multifiliis in tambaqui by GWAS (genome-wide association study). METHODS AND RESULTS: Individuals belonging to seven families, which were previously submitted to an experimental challenge to assess the natural resistance to the parasite I. multifiliis, were used for genomic analysis. A total of 7717 SNPs were identified in this population by ddRAD (double digest restriction site associated DNA). GWAS revealed four SNPs significantly associated in the LGs (linkage groups) 2, 9, 11 and 20 for the traits time of death and parasite load. The SNPs explained a low proportion of the variance to I. multifiliis resistance for time of death and parasite load (about 0.622% and 0.375%, respectively). The SNPs were close to 11 genes related to the immune system: abcf3, znf830, ccr9, gli3, ackr4, tbata, ndr2, tgfbr3, nhej1, znf644b, and cldn10a. CONCLUSIONS: In conclusion, the resistance to I. multifiliis is probably under polygenic control in tambaqui, in which different QTLs of low variance can be involved in the immune responses against this ectoparasite.

An exploratory data analysis on genetic architecture in Bos taurus through miRNAs within QTLs and their target genes.

Understanding the genetic architecture is important because it allows us to understand the relationship between molecular markers, like miRNAs, QTLs and SNPs, and traits of interest such as milk yield, lipidic content in milk, heat tolerance etc. In the present study we performed an exploratory analysis that found an association of 480 miRNAs within QTLs related to 155 traits. We also discovered that those 480 miRNAs might modulate the expression of 12.374 genes. The most predominant traits available in the data were milk related, such as milk yield and fatty acids content in milk. Besides, the functional enrichment analysis revealed that some of those genes were linked to sensory perception, olfactory perception, perception of stimulus and chemical stimulus, localization, establishment of localization, transport etc. Furthermore, the discovery of miRNAs within QTLs and their target analysis suggests that they might be associated with characteristics of interest. By analyzing these relationships, we strongly encourage that future QTL studies should include miRNAs analysis. Altogether, our analysis enabled us to explore the association between multiple complex traits, miRNAs within QTLs and their target genes in Bos taurus that might have implications in breeding programs.

Biotechnological Advances to Improve Abiotic Stress Tolerance in Crops.

The major challenges that agriculture is facing in the twenty-first century are increasing droughts, water scarcity, flooding, poorer soils, and extreme temperatures due to climate change. However, most crops are not tolerant to extreme climatic environments. The aim in the near future, in a world with hunger and an increasing population, is to breed and/or engineer crops to tolerate abiotic stress with a higher yield. Some crop varieties display a certain degree of tolerance, which has been exploited by plant breeders to develop varieties that thrive under stress conditions. Moreover, a long list of genes involved in abiotic stress tolerance have been identified and characterized by molecular techniques and overexpressed individually in plant transformation experiments. Nevertheless, stress tolerance phenotypes are polygenetic traits, which current genomic tools are dissecting to exploit their use by accelerating genetic introgression using molecular markers or site-directed mutagenesis such as CRISPR-Cas9. In this review, we describe plant mechanisms to sense and tolerate adverse climate conditions and examine and discuss classic and new molecular tools to select and improve abiotic stress tolerance in major crops.

Genome-wide detection of CNVs and their association with performance traits in broilers.

BACKGROUND: Copy number variations (CNVs) are a major type of structural genomic variants that underlie genetic architecture and phenotypic variation of complex traits, not only in humans, but also in livestock animals. We identified CNVs along the chicken genome and analyzed their association with performance traits. Genome-wide CNVs were inferred from Affymetrix® high density SNP-chip data for a broiler population. CNVs were concatenated into segments and association analyses were performed with linear mixed models considering a genomic relationship matrix, for birth weight, body weight at 21, 35, 41 and 42 days, feed intake from 35 to 41 days, feed conversion ratio from 35 to 41 days and, body weight gain from 35 to 41 days of age. RESULTS: We identified 23,214 autosomal CNVs, merged into 5042 distinct CNV regions (CNVRs), covering 12.84% of the chicken autosomal genome. One significant CNV segment was associated with BWG on GGA3 (q-value = 0.00443); one significant CNV segment was associated with BW35 (q-value = 0.00571), BW41 (q-value = 0.00180) and BW42 (q-value = 0.00130) on GGA3, and one significant CNV segment was associated with BW on GGA5 (q-value = 0.00432). All significant CNV segments were verified by qPCR, and a validation rate of 92.59% was observed. These CNV segments are located nearby genes, such as KCNJ11, MyoD1 and SOX6, known to underlie growth and development. Moreover, gene-set analyses revealed terms linked with muscle physiology, cellular processes regulation and potassium channels. CONCLUSIONS: Overall, this CNV-based GWAS study unravels potential candidate genes that may regulate performance traits in chickens. Our findings provide a foundation for future functional studies on the role of specific genes in regulating performance in chickens.

Development of a SNP linkage map and genome-wide association study for resistance to Aeromonas hydrophila in pacu (Piaractus mesopotamicus).

BACKGROUND: Pacu (Piaractus mesopotamicus) is one of the most important Neotropical aquaculture species from South America. Disease outbreaks caused by Aeromonas hydrophila infection have been considered significant contributors to the declining levels of pacu production. The current implementation of genomic selection for disease resistance has been adopted as a powerful strategy for improvement in fish species. This study aimed to investigate the genetic architecture of resistance to A. hydrophila in pacu via Genome-Wide Association Study (GWAS), the identification of suggestive Quantitative Trait Loci (QTLs) and putative genes associated with this trait. The genetic data were obtained from 381 juvenile individuals belonging to 14 full-sibling families. An experimental challenge was performed to gain access to the levels of genetic variation for resistance against the bacteria using the following trait definitions: binary test survival (TS) and time of death (TD). RESULTS: The analyses of genetic parameters estimated moderate heritability (h2) for both resistance traits: 0.20 (± 0.09) for TS and 0.35 (± 0.15) for TD. A linkage map for pacu was developed to enable the GWAS, resulting in 27 linkage groups (LGs) with 17,453 mapped Single Nucleotide Polymorphisms (SNPs). The length of the LGs varied from 79.95 (LG14) to 137.01 (LG1) cM, with a total map length of 2755.60 cM. GWAS identified 22 putative QTLs associated to A. hydrophila resistance. They were distributed into 17 LGs, and were considered suggestive genomic regions explaining > 1% of the additive genetic variance (AGV) for the trait. Several candidate genes related to immune response were located close to the suggestive QTLs, such as tbk1, trim16, Il12rb2 and lyz2. CONCLUSION: This study describes the development of the first medium density linkage map for pacu, which will be used as a framework to study relevant traits to the production of this species. In addition, the resistance to A. hydrophila was found to be moderately heritable but with a polygenic architecture suggesting that genomic selection, instead of marker assisted selection, might be useful for efficiently improving resistance to one of the most problematic diseases that affects the South American aquaculture.

Molecular Mapping and Genomics of Grain Yield in Durum Wheat: A Review.

Durum wheat is the most relevant cereal for the whole of Mediterranean agriculture, due to its intrinsic adaptation to dryland and semi-arid environments and to its strong historical cultivation tradition. It is not only relevant for the primary production sector, but also for the food industry chains associated with it. In Mediterranean environments, wheat is mostly grown under rainfed conditions and the crop is frequently exposed to environmental stresses, with high temperatures and water scarcity especially during the grain filling period. For these reasons, and due to recurrent disease epidemics, Mediterranean wheat productivity often remains under potential levels. Many studies, using both linkage analysis (LA) and a genome-wide association study (GWAS), have identified the genomic regions controlling the grain yield and the associated markers that can be used for marker-assisted selection (MAS) programs. Here, we have summarized all the current studies identifying quantitative trait loci (QTLs) and/or candidate genes involved in the main traits linked to grain yield: kernel weight, number of kernels per spike and number of spikes per unit area.

Inspection of real and imputed genotypes reveled 76 SNPs associated to rear udder height in Holstein cattle.

OBJECTIVE: This paper presents the obtained result of a study that realizes to associate a set of real and imputed single nucleotide polymorphisms (SNP) genotypes to the rear udder height in Holstein cows. MATERIALS AND METHODS: Forty-six Holstein cows from an arid zone of Mexico were phenotyped and genotyped for this study. Blood samples were used for DNA extraction, genotyping was performed with the Illumina BovineLD Bead chip which interrogates 6,912 SNPs genome-wide, and imputation was performed using the Findhap software. After QC filters, a total of 22,251 high quality and informative SNPs were inspected. RESULTS: The results showed the detection of 76 significant SNPs throughout the complete genome. Significant SNPs fall inside 111 Quantitative Loci Traits related to protein percentage, milk yield, and fat, among others, in chromosomes 1, 2, 3, 5, 6, 9, 10, 11, 12, 13, 19, 20, 21, 23, 26, 27, and 29. Similarly, results confirm that a genotype imputation is a convenient option for genome-wide covering when selecting economic traits with low-density real SNP panels. CONCLUSION: This study contributes to establishing a low-cost and profitable strategy for applying genomic selection in developing countries.

Unraveling the Deep Genetic Architecture for Seedlessness in Grapevine and the Development and Validation of a New Set of Markers for VviAGL11-Based Gene-Assisted Selection.

Seedless inheritance has been considered a quasi-monogenic trait based on the VvAGL11 gene. An intragenic simple sequence repeat (SSR) marker, p3_VvAGL11, is currently used to opportunely discard seeded progeny, which represents up to 50% of seedlings to be established in the field. However, the rate of false positives remains significant, and this lack of accuracy might be due to a more complex genetic architecture, some intrinsic flaws of p3_VvAGL11, or potential recombination events between p3_VvAGL11 and the causal SNP located in the coding region. The purpose of this study was to update the genetic architecture of this trait in order to better understand its implications in breeding strategies. A total of 573 F1 individuals that segregate for seedlessness were genotyped with a 20K SNP chip and characterized phenotypically during four seasons for a fine QTL mapping analysis. Based on the molecular diversity of p3_VvAGL11 alleles, we redesigned this marker, and based on the causal SNP, we developed a qPCR-HRM marker for high-throughput and a Tetra-ARMS-PCR for simple predictive analyses. Up to 10 new QTLs were identified that describe the complex nature of seedlessness, corresponding to small but stable effects. The positive predictive value, based on VvAGL11 alone (0.647), was improved up to 0.814 when adding three small-effect QTLs in a multi-QTL additive model as a proof of concept. The new SSR, 5U_VviAGL11, is more informative and robust, and easier to analyze. However, we demonstrated that the association can be lost by intragenic recombination and that the e7_VviAGL11 SNP-based marker is thus more reliable and decreases the occurrence of false positives. This study highlights the bases of prediction failure based solely on a major gene and a reduced set of candidate genes, in addition to opportunities for molecular breeding following further and larger validation studies.

Identifying signatures of recent selection in Holstein cattle in the Tropic / Identificación de señales de selección reciente en ganado Holstein en el trópico / Identificação de sinais de seleção recente no gado Holandês no trópico

Abstract Background: Holstein cattle have undergone strong selection processes in the world. These selection signatures can be recognized and utilized to identify regions of the genome that are important for milk yield. Objective: To identify recent selection signatures in Holstein from the Province of Antioquia (Colombia), using the integrated haplotype score (iHS) methodology. Methods: Blood or semen was extracted from 150 animals with a commercial kit. The animals were genotyped with the BovineLD chip (6909 SNPs). The editing process was carried out while preserving the loci whose minor allele frequency (MAF) was greater than 0.05. In addition, genotypes with Mendelian errors were discarded using R and PLINK v1.07 software programs. Furthermore, the extended haplotype homozygosity (EHH), iHS and the p-value were determined with the "rehh" package of R language. Results: The minor allele frequencies showed a tendency toward intermediate frequency alleles. In total, 144 focal markers were significant (p<0.001) for selection signatures. Some chromosomes showed a greater number of signatures than others. Many of the variants were found inside genes, although they were in intronic regions. Some important regions were associated with genes TRAPPC12, PANK3, ZNF16, OPLA and DPYSL4, which are related with cellular transport, excretion or metabolism. Conclusion: Identifying signatures of selection using the iHS method made it possible to determine some important regions for selection in Holstein cattle in the high tropics, some of which had been previously reported to be associated with quantitative traits loci (QTLs).

Resumen Antecedentes: El ganado Holstein ha sido sometido a procesos fuertes de selección en el mundo. Estas señales de selección pueden ser reconocidas y utilizadas para identificar regiones del genoma importantes para la producción de leche. Objetivo: Identificar señales de selección recientes en ganado Holstein de la Provincia de Antioquia (Colombia), mediante la metodología de puntaje haplotípico integrado (iHS). Métodos: A 150 animales se les extrajo DNA de sangre o semen mediante un kit comercial y posteriormente se genotiparon los animales con el chip BovineLD (6909 SNPs). Se realizó edición conservando los loci con frecuencia del alelo menor (MAF) superior a 0,05. Además, se descartaron los genotipos con errores mendelianos, usando el software R y PLINK v1.07. La determinación de la homocigosidad haplotípica extendida (EHH), iHS y el valor p se realizó utilizando el paquete "rehh" de R. Resultados: Las frecuencias del alelo menor mostraron una tendencia hacia alelos de frecuencias intermedias. En total, 144 marcadores focales fueron significativos (p<0,001) para las señales de selección. Algunos cromosomas presentaron mayor número de señales de selección que otros. Muchas de las variantes focales se encontraron al interior de genes, aunque comúnmente en regiones intrónicas. Algunas de las regiones importantes estuvieron asociadas con genes como TRAPPC12, PANK3, ZNF16, OPLA y DPYSL4 que en general se encuentran asociados con funciones relacionadas con el transporte, excreción o metabolismo celular. Conclusión: La identificación de señales de selección usando el método iHS permitió determinar algunas regiones importantes para la selección en ganado Holstein del trópico alto, algunas de las cuales han sido previamente reportadas por su asociación a loci de características cuantitativas (QTLs).

Resumo Antecedentes: O gado holandês tem sido objeto de processos de seleção fortes no mundo. Estes sinais de seleção podem ser reconhecidos e utilizados para identificar regiões do genoma importantes para a produção de leite. Objetivo: Identificar sinais de seleção recente em gado Holandês de la Província de Antioquia (Colômbia), através da metodologia de pontuação haplotípica integrada (iHS). Métodos: Foram usados 150 animais para a extração de DNA a partir de sangre ou sêmen usando kit comercial, os animais foram posteriormente genotipados com o chip BovineLD (6909 SNPs). A edição foi feita mantendo os loci com frequência do alelo menor (MAF) de 0,05; além disso, genótipos com erros mendelianos foram descartados usando o programa R e PLINK v1.07. A determinação da homozigosidade haplotípica estendida (EHH), iHS e valor p foi realizada utilizando o pacote estatístico R "reeh". Resultados: As frequências do alelo menor mostraram uma tendência inclinada a frequências intermédias. No total, 144 marcadores focais foram significativos (p<0,001) para os sinais de seleção. Alguns cromossomos apresentaram mais numero de sinais de seleção que outros. Muitas dos variantes focais foram encontradas dentro dos genes, embora comumente em regiões intrônicas. Algumas das regiões importantes foram associadas com genes como TRAPPC12, PANK3, ZNF16, OPLA e DPYSL4 que geralmente estão associadas a funções relacionadas com o transporte, a excreção ou metabolismo celular. Conclusão: A identificação de sinais de seleção usando o método iHS permitiu determinar algumas regiões importantes para a seleção no gado holandês do tropico alto, algumas destas regiões foram previamente relatados por sua associação com loci de características quantitativas (QTLs).

Genome-wide association study using the Bayes C method for important traits in dairy yield in Colombian Holstein Cattle / Associação genômica usando o método Bayes C para características importantes na produção leiteira em Gado Holandês na Colômbia

The objective of this study was to determine the genome association between markers of bovine LD BeadChip with dairy important traits. Information of breeding program of the Universidad Nacional de Colombia was used. BLUP-EBVs were used for dairy yield (DY), fat percentage (FP), proteinpercentage (PP) and somatic cell score (SCS). 150 animals were selected for blood or semen DNA extraction and genotyping with BovineLD BeadChip (Illumina). Autosomal information was retained and the editing information was performed using Plink v1.07 software. The effects of SNPs were determined by Bayes C with GS3 software. The minor allele frequency for most of the markers on the bead chip was high, which increases the probability of finding important loci segregating in the population. Estimations of fraction markers with an effect were close to zero in almost all cases. The most important markers were mapped by trait using ENSEMBL. A total of 6,510 autosomal SNPs were retained, out of which only a proportion with effect was taken from the mixed function of Bayes C. Important genes as ANKS1B, CLCN1, NMBR and CTSD, were found for each trait for AL, FP, PP and SCS respectively. Finally, Bayes C estimation allowed to identify specific SNPs possibly associated with QTLs.(AU)

O Objetivo deste estudo foi determinar a associação genômica entre os marcadores do chip bovino LD (LD BeadChip) com características importantes na produção de leite. Foram utilizadas informações do programa de melhoramento genético da Universidade Nacional de Colômbia. BLUPEBVs foram utilizados para a produção de leite (DY), porcentagem de gordura (FP), porcentagem deproteína (PP) e escore de células somáticas (SCS). 150 animais foram selecionados para extração de DNAdo sangue ou sêmen e genotipados com o chip BovineLD (Illumina). A informação autossômica foi mantidae a edição da informação foi executada usando o programa Plink v1.07. Os efeitos dos SNPs foram determinados por Bayes C com o programa GS3. A frequência do alelo menor para a maioria dos marcadores no chip foi alta, o que aumenta a probabilidade de encontrar locos importantes segregando na população. As estimativas da fração de marcadores, com efeito, foram próximas de zero em quase todas as situações. Os marcadores mais importantes foram mapeados com ENSEMBL. Um total de 6510 SNPs autossômicos foram preservados, dos quais apenas uma proporção foi tomada com efeito a partir da função mista de Bayes C. Para cada característica foram encontrados genes importantes, como ANKS1B, CLCN1, NMBR e CTSD, para AL, FP, PP e SCS, respectivamente. Finalmente, a estimativa de Bayes-C permitiu aidentificação de SNPs com possível associação com QTLs.(AU)

Genome-wide association study using the Bayes C method for important traits in dairy yield in Colombian Holstein Cattle / Associação genômica usando o método Bayes C para características importantes na produção leiteira em Gado Holandês na Colômbia

The objective of this study was to determine the genome association between markers of bovine LD BeadChip with dairy important traits. Information of breeding program of the Universidad Nacional de Colombia was used. BLUP-EBVs were used for dairy yield (DY), fat percentage (FP), proteinpercentage (PP) and somatic cell score (SCS). 150 animals were selected for blood or semen DNA extraction and genotyping with BovineLD BeadChip (Illumina). Autosomal information was retained and the editing information was performed using Plink v1.07 software. The effects of SNPs were determined by Bayes C with GS3 software. The minor allele frequency for most of the markers on the bead chip was high, which increases the probability of finding important loci segregating in the population. Estimations of fraction markers with an effect were close to zero in almost all cases. The most important markers were mapped by trait using ENSEMBL. A total of 6,510 autosomal SNPs were retained, out of which only a proportion with effect was taken from the mixed function of Bayes C. Important genes as ANKS1B, CLCN1, NMBR and CTSD, were found for each trait for AL, FP, PP and SCS respectively. Finally, Bayes C estimation allowed to identify specific SNPs possibly associated with QTLs.

O Objetivo deste estudo foi determinar a associação genômica entre os marcadores do chip bovino LD (LD BeadChip) com características importantes na produção de leite. Foram utilizadas informações do programa de melhoramento genético da Universidade Nacional de Colômbia. BLUPEBVs foram utilizados para a produção de leite (DY), porcentagem de gordura (FP), porcentagem deproteína (PP) e escore de células somáticas (SCS). 150 animais foram selecionados para extração de DNAdo sangue ou sêmen e genotipados com o chip BovineLD (Illumina). A informação autossômica foi mantidae a edição da informação foi executada usando o programa Plink v1.07. Os efeitos dos SNPs foram determinados por Bayes C com o programa GS3. A frequência do alelo menor para a maioria dos marcadores no chip foi alta, o que aumenta a probabilidade de encontrar locos importantes segregando na população. As estimativas da fração de marcadores, com efeito, foram próximas de zero em quase todas as situações. Os marcadores mais importantes foram mapeados com ENSEMBL. Um total de 6510 SNPs autossômicos foram preservados, dos quais apenas uma proporção foi tomada com efeito a partir da função mista de Bayes C. Para cada característica foram encontrados genes importantes, como ANKS1B, CLCN1, NMBR e CTSD, para AL, FP, PP e SCS, respectivamente. Finalmente, a estimativa de Bayes-C permitiu aidentificação de SNPs com possível associação com QTLs.

IDENTIFICACIÓN DE QTLs ASOCIADOS A CARACTERES DE ARQUITECTURA VEGETAL EN YUCA (Manihot esculenta) / Identification of QTLs Associated to Plant Architecture in Cassava (Manihot esculenta)

La yuca (Manihot esculenta) es el cuarto cultivo en importancia a nivel mundial como fuente de calorías para la población humana después del arroz, el azúcar y el maíz, posicionándose por esta razón como un cultivo primordial para la seguridad alimentaria. Su arquitectura ha sido considerada como un factor clave que subyace a la fisiología del rendimiento, relacionando características morfológicas con productividad. En este trabajo se evaluaron diferentes características de arquitectura vegetal en yuca. Los caracteres fueron evaluados en una población F1 compuesta por 133 hermanos completos (familia K) sembrados en dos lugares biogeográficamente diferentes: La Vega (Cundinamarca) y Arauca (Arauca) en Colombia. Las características evaluadas relacionadas con la arquitectura vegetal fueron altura de la planta (AT), número de brotes (NB), longitud entrenudos (LE), número de raíces (NR), peso de raíces (PR), pigmentación del peciolo (PP), área de la hoja (AH) y tipo de hoja (TH). A partir de los datos obtenidos y empleando un mapa genético de alta densidad basado en SNPs (Single Nucleotide Polymorphisms) se llevó a cabo un análisis de QTLs (Quantitative Trait Loci). Se lograron identificar tres QTLs para La Vega asociados con los caracteres altura total, número de brotes y área de la hoja. Para Arauca se detectaron tres QTLs asociados con altura total, longitud de entrenudos y número de brotes. Los QTLs se distribuyeron en cuatro grupos de ligamiento y explicaron entre 18,93 y 41,92 % de la variación genética.

Cassava (Manihot esculenta) is the fourth most important crop worldwide as a source of calories for the human population after rice, sugar and corn and therefore it is considered as a staple crop. Cassava's architecture has been considered as a key factor underlying the physiology of yield, relating morphological traits with productivity. In this work different characteristics of plant architecture were evaluated in a cassava F1 population composed by 133 complete siblings (family K) planted in two biogeographically different zones: La Vega (Cundinamarca) and Arauca (Arauca) in Colombia. The characteristics evaluated related to the vegetal architecture were plant height (AT), number of shoots (NB), internodes length (LE), number of roots (NR), root weight (PR), petiole pigmentation (PP), leaf area (AH) and leaf type (TH). From the data obtained and using a SNP- (Single Nucleotide Polymorphism) high-density genetic map a QTLs analysis (Quantitative Trait Loci) was carried out. It was possible to identify three QTLs for La Vega associated with characters plant height, internodes length and leaf area. From the Arauca's dataset, three QTLs were detected associated with plant height, number of shoots and internodes length. The QTLs were distributed into four linkage groups and explained between 18.93 and 41.92 % of genetic variation.

Quantitative trait locus mapping associated with earliness and fruit weight in tomato

The flowering time is regarded as an important factor that affects yield in various crops. In order to understand how the molecular basis controlling main components of earliness in tomato (Solanum lycopersicum L.), and to deduce whether the correlation between fruit weight, days to flowering and seed weight, is caused by pleiotropic effects or genetic linkage, a QTLs analysis was carried out using an F2 interspecific population derived from the cross of S. lycopersicum and S. pimpinellifolium. The analysis revealed that most of the components related to earliness were independent due to the absence of phenotypic correlation and lack of co-localization of their QTLs. QTLs affecting the flowering time showed considerable variation over time in values of explained phenotypic variation and average effects, which suggested dominance becomes more evident over time. The path analysis showed that traits such as days to flowering, seed weight, and length of the first leaf had a significant effect on the expression of fruit weight, confirming that their correlations were due to linkage. This result was also confirmed in two genomic regions located on chromosomes 1 and 4, where despite showing high co-localization of QTLs associated to days to flowering, seed weight and fruit weight, the presence and absence of epistasis in dfft1.1 × dftt4.1 and fw1.1 × fw4.1, suggested that the linkage was the main cause of the co-localization.

Quantitative trait locus mapping associated with earliness and fruit weight in tomato

The flowering time is regarded as an important factor that affects yield in various crops. In order to understand how the molecular basis controlling main components of earliness in tomato (Solanum lycopersicum L.), and to deduce whether the correlation between fruit weight, days to flowering and seed weight, is caused by pleiotropic effects or genetic linkage, a QTLs analysis was carried out using an F2 interspecific population derived from the cross of S. lycopersicum and S. pimpinellifolium. The analysis revealed that most of the components related to earliness were independent due to the absence of phenotypic correlation and lack of co-localization of their QTLs. QTLs affecting the flowering time showed considerable variation over time in values of explained phenotypic variation and average effects, which suggested dominance becomes more evident over time. The path analysis showed that traits such as days to flowering, seed weight, and length of the first leaf had a significant effect on the expression of fruit weight, confirming that their correlations were due to linkage. This result was also confirmed in two genomic regions located on chromosomes 1 and 4, where despite showing high co-localization of QTLs associated to days to flowering, seed weight and fruit weight, the presence and absence of epistasis in dfft1.1 × dftt4.1 and fw1.1 × fw4.1, suggested that the linkage was the main cause of the co-localization.(AU)

Plastic expression of heterochrony quantitative trait loci (hQTLs) for leaf growth in the common bean (Phaseolus vulgaris).

Heterochrony, that is, evolutionary changes in the relative timing of developmental events and processes, has emerged as a key concept that links evolution and development. Genes associated with heterochrony encode molecular components of developmental timing mechanisms. However, our understanding of how heterochrony genes alter the expression of heterochrony in response to environmental changes remains very limited. We applied functional mapping to find quantitative trait loci (QTLs) responsible for growth trajectories of leaf area and leaf mass in the common bean (Phaseolus vulgaris) grown in two contrasting environments. We identified three major QTLs pleiotropically expressed under the two environments. Further characterization of the temporal pattern of these QTLs indicates that they are heterochrony QTLs (hQTLs) in terms of their role in influencing four heterochronic parameters: the timing of the inflection point, the timing of maximum acceleration and deceleration, and the duration of linear growth. The pattern of gene action by the hQTLs on each parameter was unique, being environmentally dependent and varying between two allometrically related leaf growth traits. These results provide new insights into the complexity of genetic mechanisms that control trait formation in plants and provide novel findings that will be of use in studying the evolutionary trends.

La biotecnología como herramienta para la propagación, conservación y el mejoramiento genético del guayabo / Biotechnology as a tool for propagation, con-servation and genetic breeding in guava

Las técnicas biotecnológicas contribuyen positiva y significativamente en los programas de propagación, conservación y mejoramiento de las especies vegetales. Dentro de éstas, el cultivo de tejidos, el desarrollo de mapas de ligamientos genéticos y de QTLs y la detección de genes de interés han demostrado ser de gran utilidad para los mencionados propósitos. En este sentido, se estandarizó una técnica para la multiplicación in vitro de la forma silvestre de guayabo en tres fases de cultivo: establecimiento, multiplicación de propágulos y enraizamiento. La misma constituye una vía de utilidad para la propagación, la conservación de germoplasma y el mejoramiento genético en la especie. Además, se estandarizó un método de conservación a corto-mediano plazo. Por otra parte, se construyó un mapa de ligamiento genético para la especie empleando marcadores AFLP y SSR. Los 11 grupos del mapa de ligamiento genético y los 50 QTLs relacionados con caracteres vegetativos y de calidad interna y externa del fruto, constituyen el punto de partida para el clonaje de genes de interés agrícola y la implementación futura de la selección asistida por marcadores en el guayabo. De igual forma, las 176 secuencias candidatas a genes de resistencia (RGL) y del desarrollo de la planta (MADS-box y HOMEO-box) detectadas pueden ser de gran utilidad en la saturación del mapa de ligamiento referido, el estudio de la variabilidad presente en el cultivo, así como en la solución de problemas relacionados con el rendimiento, la producción y la resistencia a estrés biótico y abiótico

Biotechnologies contribute positively and signifi¬cantly in the propagation, conservation and breeding programs of many plant species. From them, tissue culture, linkage maps and QTLs detection for interesting genes have been proved to be of great utility for these purposes. In this sense, a technique for in vitro multiplication of wild guava was standardized in three culture phases: establishment, multiplication and rooting. This technique constituted a useful way for propagation, germplasm conservation and genetic breeding in the specie. A method for short-medium term conservation was also standardized. On the other hand, a genetic linkage map was constructed for the specie using AFLP and SSR markers. The 11 groups of the genetic linkage map and the 50 QTLs related with vegetative and internal/external fruit characters constitute the starting point for genes cloning of agricultural interest and the future imple¬mentation of markers assisted selection in guava. Also, the 176 candidate sequences for resistance-gene-like (RGL) and plant development (MADS-box and HOMEO-box) genes detected can be of great utility in linkage map saturation, variability studies in this crop, as well as in the solution of problems rela¬ted with yielding and resistance to biotic and abiotic stresses.

Perspectivas en genómica poblacional: genes, poblaciones y arquitectura genética / Perspectives in population genomics: genes, populations and genetic architecture

La Arquitectura Genética (AG) se refiere a los patrones de los efectos genéticos que construyen y controlan un carácter fe no-típico dado y sus propiedades variacionales. Una descripción de AG puede incluir afirmaciones acerca del gen y número de alelos, la distribución de los efectos alélicos, mutacionales, y los patrones de pleiotropía, dominancia y epistasis. La Genética de poblaciones clásica tiende a tratar la AG como un grupo de parámetros invariantes y no como variables evolutivas. El paradigma Neo-Darviniano más o menos define la evolución como un cambio en las frecuencias alélicas y deja poco margen para la evolución de los efectos alélicos. Conceptos como la canalización genética, la evolución de la variabilidad genética reducida, y la asimilación genética-respuestas evolutivas basadas en la variación medioambiental inducidaeran difíciles de enmarcar en esta línea de trabajo y fue seguida por unos pocos investigadores, siendo tratada de manera empírica. La canalización ha tenido finalmente, una sóidal interpretación de genética poblacional en términos de evolución de los efectos reducidos de un gen, a través de las interacciones epis-táticas con un trasfondo genético evolutivo, y es actualmente el foco de considerable interés empírico y teórico. El rápido desarrollo de las tecnologías moleculares ha permitido la generación de un número casi ilimitado de marcadores que especifican la estructura y organización del genoma de cualquier organismo. La integración de la estadística con la genética molecular permitió tener la primera herramienta para disgregar un rasgo cuantitativo en sus componentes genéticos individuales (qTLs). Posterior a esto se han desarrollado múltiples métodos estadísticos para localizar rasgos complejos y su aplicación posterior a la genética vegetal, animal y humana.

Genetic Architecture (GA) refers to the patterns of genetic effects that build and control a given phenotypic character and their variation properties. A description of GA can include declarations about the gene and number of alleles, the distri-bution of the allelic and mutational effects, and the patterns of pleiotropy, dominance and epistasis. The classical population genetics tends to treat the GA as a group of invariable para-meters and not as an evolutionary variable. The Neon-Dar - winian paradigm more or less defines the evolution as a chan ge in the allelic frequencies and gives small scope for the evolution of the allelic effects. Concepts as the genetic canalization, the evolution of the reduced genetic variation, and the genetic assimilation -evolutionary answers based on the induced environmental variation- were difficult to frame in this line of work and were followed by a few investigators, being treated in an empirical way. The canalization has had finally; a solid interpretation in terms of population genetics and evolution of reduced effects of a gene, through epistatic interactions with an evolutionary genetic background, and actually is the focus of considerable theoretical and empirical interest. The fast development of the molecular technologies has permitted the generation of an almost unlimited number of markers that specify the structure and organization of the genome of any organism. The integration of the statistics with the molecular genetics permitted to have the first tool to disin-tegrate a quantitative characteristic in its individual genetic components (quantitative Trait Loci, qTL). After that, has been developed multiple statistical methods to locate com-plex characteristics and their applications to the animal, vegetal, and human genetics.

Linkage disequilibrium, genetic association mapping and gene localization in crop plants

DNA-based molecular markers have been extensively utilized for a variety of studies in both plant and animal systems. One of the major uses of these markers is the construction of genome-wide molecular maps and the genetic analysis of simple and complex traits. However, these studies are generally based on linkage analysis in mapping populations, thus placing serious limitations in using molecular markers for genetic analysis in a variety of plant populations. Therefore, alternative approach has been suggested, linkage disequilibrium-based association analysis which detects and locates quantitative trait loci (QTL) by the strength of the correlation between a trait and a marker. Although association analysis has already been used for studies on genetics of complex traits in humans, its use in plants has newly started. In the present review, we describe what is known about variation in linkage disequilibrium (LD) and summarize published results on association studies in crop plant species. We give a list of different factors affecting LD, and discuss the current issues of LD research in plants. Later, we also describe the various uses of LD in crop plants research and summarize the present status of LD researches in different plant genomes. Finally, future key issues about the application of these studies on the localization of genes in these crop plants have been also discussed.