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Visceral leishmaniasis (VL) is a neglected disease that is typical of tropical and subtropical parts of the world and is caused by the trypanosomatid Leishmania donovani complex. This disease is a multifactorial condition that involves parasitic, environmental, and immunogenetic characteristics. Genetic changes in genes encoding cytokines may be associated with changes in their expression and, consequently, with the development of clinical resistance or susceptibility to the disease. This systematic review and meta-analysis aimed to assess whether single nucleotide polymorphisms (SNPs) in interleukin genes influence the clinical consequences of visceral leishmaniasis infection. To this end, we carried out a systematic review and meta-analysis with structured searches in the EMBASE, PubMed, Scopus, SciELO, and Web of Science databases without time restrictions. Two independent reviewers examined the studies, performed data extraction, and assessed quality by assigning scores. If there were any discrepancies, a third reviewer with more experience was consulted. After the screening process, 28 articles were included in the systematic review and 9 in the final analysis of the meta-analysis. Statistical analyses were carried out using various genetic models. The odds ratio (OR) and corresponding 95% confidence intervals (CIs) were calculated to estimate the associations. Overall, the main clinical outcomes were classified as not associated or associated when they presented susceptibility, resistance, risk, or protective factors for the development of the disease. Associations between IFN-γ +874T/A polymorphisms in the dominant model (OR 1.64, 95% CI 1.13-2.38, I2 = 0%, p < 0.01) and heterozygous model (OR 1.72, 95% CI 1.15-2.57, I2 = 0%, p < 0.01) and IL-18 -137G/C in the recessive model (OR 1.33, 95% CI 1.02-1.71, I2 = 9%, p = 0.03) and VL were observed. For the IL-10 gene SNPs, there was no significant association. Our findings suggest that SNPs in the IFN-γ and IL-18 genes may be associated with the risk of developing VL.

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The objective of this study was to assess the genetic structure and diversity of six Santa Inês sheep flocks from the Central-Northern Brazil. A panel of 20 highly polymorphic and informative microsatellite loci was selected and amplified. The following parameters were obtained: overall mean of number of alleles = 15.4; expected heterozygosity (He) = 0.89; polymorphism information content (PIC) = 0.88; discriminatory capacity = 0.95; combined probability of identity = 1.50 × 10−34; and probability of exclusion = 1.00. The flocks with the lowest and the highest degrees of genetic variability were Farm 6 (He = 0.70, PIC = 0.653, and allelic richness [Ar] = 3.76) and Farm 1 (He = 0.89, PIC = 0.882, and Ar = 4.39), respectively. Indications of genetic bottleneck were observed in all flocks, as well as moderate genetic differentiation, with FST = 0.053, RST = 0.096, and Dest = 0.169. The migration rate in all flocks was high, with a trend towards Farm 1. This finding was not in agreement with the substructure found with the Bayesian admixture analysis and corroborated the array obtained with the principal component analysis and the clustering analysis. The results revealed moderate structuring and high genetic diversity in the flocks. However, management strategies should be reviewed, as evidence of bottleneck and genetic erosion was observed.(AU)

Resumo

The genus Tetranematichthys has only three species, and none of them have undergone cytogenetic analyses. Therefore, this study brings for the first time the analysis of Tetranematichthys wallacei, collected from the Igarapé Apaú, Guamá River basin, municipality of Castanhal, Pará State, Brazil. The diploid number found was 52 chromosomes (32m+18sm+2st, NF = 104), in both sexes, with predominantly terminal and some interstitial heterochromatin. Telomeric sequences were observed exclusively in terminal regions. The 18S rDNA sites were found on pair 17sm of all specimens and in only one of the homologous of pair 7 in three specimens. The 5S rDNA sites were found in pairs 8m and 10m. Tetranematichthys wallacei exhibits characteristics worthy of attention regarding its current phylogenetic position, including a probable diploid number reduction. Additionally, it shares with Tympanopleura atronasus the 18S rDNA allocated in the long arm of a large sm chromosome (first pair) but does not share with Ageneiosus the large first m pair with evidence of fusion, as observed in Ageneiosus inermis. The chromosomal data generated for T. wallacei, along with the data from the other two previously studied Ageneiosini taxa, reinforces proposals from morphology-based studies suggesting that the tribe represents the most distinct clade within the family.(AU)

O gênero Tetranematichthys possui apenas três espécies, e nenhuma delas tinha sido submetida a análises citogenéticas. Assim, este estudo traz pela primeira vez a análise de Tetranematichthyswallacei, coletado no Igarapé Apaú, bacia do rio Guamá, cidade de Castanhal, estado do Pará, Brasil. O número diploide de 52 cromossomos (32m+18sm+2st, NF = 104) foi encontrado em ambos os sexos, com heterocromatina predominantemente terminal e algumas intersticiais. A sequência telomérica foi observada exclusivamente em regiões terminais. Os sítios de 18S rDNA foram encontrados no par 17sm de todos os exemplares e em apenas um dos homólogos do par 7 em três exemplares. Os sítios de 5S rDNA foram encontrados nos pares 8m e 10m. Tetranematichthyswallacei possui algumas características que dignas de quanto à sua posição filogenética atual, incluindo uma provável redução no número diploide. Além disso, T.wallacei compartilha com Tympanopleuraatronasus o 18S rDNA alocado no braço longo de um grande cromossomo sm (primeiro par), mas não compartilha com Ageneiosus o primeiro par m grande com evidências de fusão, como observado em Ageneiosus inermis. Os dados cromossômicos gerados para T. wallacei, juntamente com os dados dos outros dois táxons de Ageneiosini estudados anteriormente, reforçam propostas de estudos baseados em morfologia que sugerem que a tribo representa o clado mais diferenciado dentro da família.(AU)

Resumo

Single nucleotide polymorphisms are variations of a single nucleotide base pair and can be associated to phenotypic characteristics. This study aimed to determine the association of CAPN1 and CAST gene polymorphisms with the tenderness of Creole cattle meat from the Amazonas region, Peru. The texture profile (adhesiveness, cohesiveness, Warner-Bratzler shear force, elasticity, gumminess, and chewiness) of 100 animals was determined in 100 g of Longissimus dorsi et lumborum muscle. Allelic frequencies, genotypic frequencies, and Hardy-Weinberg equilibrium (HWE) of calpain (CAPN-316, CAPN-530) and calpastatin (CAST-2959) gene polymorphisms were studied. Allelic and genotypic frequencies were calculated, as well as the Hardy-Weinberg equilibrium with the Chi-square test. The texture profile of each group of samples corresponding to a polymorphism was compared with the Duncan's test and the t-test for independent samples (p < 0.05). Genotypic frequencies were 78 % GG and 22 % CC for CAPN-316; 68 % GG, 5 % GA, and 27 % AA for CAPN-530; and 74 % AA, 18 % AG, and 8 % GG for CAST-2959. The CAPN-316, CAPN-530, and CAST-2959 polymorphisms were not in Hardy-Weinberg equilibrium. The CC genotype of CAPN-316 marker influences meat tenderness on day 21 of meat aging. In contrast, the GG genotype of CAST-2959 marker affects meat tenderness at days 14 and 21 of meat aging concerning the other genotypes.

Resumo

The current study aimed to investigate the relationship between polymorphisms in detoxifying (GSTM1, GSTT1, and GSTP1) genes and their association with colorectal cancer (CRC) in tobacco addicts of Pashtun ethnicity. Polymorphisms in the selected genes were genotyped in a case-control study consisting of 100 histologically confirmed male CRC patients and 100 birth-year and gender-matched healthy controls using the PCR−RFLP method. The GSTM1 null, and GSTT1 null genotypes were significantly contributed to the risk of CRC in the cases (OR= 3.131, 95% CI: 1.451−6.758, P = 0.004, and OR= 3.541, 95% CI: 1.716−7.306, P = 0.001, respectively), whereas the association observed for GSTP1 Val/Val (1.139, 95% CI: 0.356−3.644, P = 0.826) did not show statistical significance. The combined GSTM1 null and GSTT1 null showed a 41-fold increased risk (95% CI: 4.945−351.950, P = 0.001), while, the combined GSTM1 null and GSTP1 Ile/Val or Val/Val variant genotypes exhibited about 3-fold (95% CI: 1.196−7.414, P = 0.019) increased risk to CRC. Similarly, the combined GSTT1 null and GSTP1 Ile/Val or Val/Val variant genotypes showed about a 3-fold (95% CI: 1.285−8.101, P = 0.013) increased risk of CRC. In the combination of three GST genotypes, the GSTM1 null, GSTT1 null, and GSTP1 Ile/Val or Val/Val variant genotypes demonstrated a more than a 22-fold (95% CI: 2.441−212.106, P = 0.006) increased risk of CRC. Our findings suggest that GSTM1 and GSTT1 polymorphism and its combination with GSTP1 may be associated with CRC susceptibility in the Naswar addicted Pashtun population of Khyber Pakhtunkhwa, Pakistan.

O presente estudo teve como objetivo investigar a relação entre polimorfismos em genes desintoxicantes (GSTM1, GSTT1 e GSTP1) e sua associação com câncer colorretal (CCR) em tabagistas da etnia pashtun. Os polimorfismos nos genes selecionados foram genotipados em um estudo de caso-controle composto por 100 pacientes do sexo masculino com CCR, confirmados histologicamente, e 100 controles saudáveis, ​​pareados por ano de nascimento e sexo usando o método PCR-RFLP. Os genótipos GSTM1 nulo e GSTT1 nulo contribuíram significativamente para o risco de CCR nos casos (OR = 3,131, IC 95%: 1,451-6,758, P = 0,004; OR = 3,541, IC 95%: 1,716-7,306, P = 0,001, respectivamente), enquanto a associação observada para GSTP1 Val/Val (1,139, IC 95%: 0,356-3,644, P = 0,826) não apresentou significância estatística. O GSTM1 nulo e o GSTT1 nulo combinados mostraram um risco 41 vezes maior (IC 95%: 4,945-351,950, P = 0,001) para CCR, enquanto os genótipos GSTM1 nulo e GSTP1 Ile/Val ou Val/Val combinados apresentaram risco cerca de 3 vezes maior (IC 95%: 1,196-7,414, P = 0,019) para CCR. Da mesma forma, os genótipos combinados GSTT1 nulo e GSTP1 Ile/Val ou Val/Val tiveram um risco para CRC cerca de 3 vezes maior (95% CI: 1,285-8,101, P = 0,013). Na combinação de três genótipos GST, os genótipos GSTM1 nulo, GSTT1 nulo e GSTP1 Ile/Val ou Val/Val apresentaram um risco 22 vezes maior (IC 95%: 2,441-212,106, P = 0,006) para CRC. Nossos achados sugerem que o polimorfismo GSTM1 e GSTT1 e sua combinação com GSTP1 podem estar associados à suscetibilidade ao CRC da população pashtun de Khyber Pakhtunkhwa, Paquistão, viciada em Naswar.

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Hypostomus is distributed by Central and South America basins, with diverse species with taxonomic conflicts. This way, the integration of auxiliary techniques contributes to understanding the systematics and phylogeny of the group. Thus, this study aimed to investigate the Hypostomus cochliodon and H. boulengeri from the Onça stream (Paraguai River basin) by allozyme and cytogenetic techniques. Hypostomus boulengeri showed a diploid number of 68 chromosomes (14m+14sm+18st+22a), multiple NOR revealed by Ag-NOR and 18S rDNA FISH, a polymorphism of heterochromatin in acrocentrics and the presence of B microchromosome. Hypostomus cochliodon showed a diploid number of 64 chromosomes (16m+26sm+14st+8a); despite the single NOR, some individuals showed NOR in both telomeres detected by Ag-NOR and 18S rDNA FISH. Isozyme identified two diagnostic loci (Idh-A and Gdh-A) between the two species and multiple loci with unique alleles in H. boulengeri. The genetic variability indicated by the mean heterozygosity (He) was 0.2461 and 0.0309 in H. boulengeri and H. cochliodon,respectively.Thus, this study reports the first cytogenetic data for H. boulengeri and the first isozymatic data for H. boulengeri and H. cochliodon. The two species presented evident cytogenetic and isoenzymatic differences with the obtaining of exclusive genetic markers providing support for future evolutionary studies in the group.(AU)

Hypostomus está distribuído por bacias da América Central e do Sul, com grande diversidade de espécies com conflitos taxonômicos. Desta forma, a integração de técnicas auxiliares contribui para a compreensão da sistemática e filogenia do grupo. Assim, este estudo teve como objetivo investigar Hypostomus cochliodon e H. boulengeri do riacho Onça (bacia do rio Paraguai) por meio de técnicas aloenzimáticas e citogenéticas. As análises citogenéticas em H. boulengeri mostraram número cromossômico igual a 2n = 68 (14m+14sm+18st+22a), sistema de NOR múltiplo revelado por Ag-NOR e 18S-FISH, um polimorfismo de heterocromatina em acrocêntricos e a presença de microcromossomos Bs. Hypostomus cochliodon mostrou um número diploide de 64 cromossomos (16m+26sm+14st+8a); apesar do sistema de NOR simples, alguns indivíduos apresentaram NOR em ambos os telômeros detectados por Ag-NOR e 18S-FISH. Uma isozima identificou dois loci diagnósticos (Idh-A and Gdh-A) entre as duas espécies e múltiplos loci com alelos únicos em H. boulengeri. A variabilidade genética indicada pela heterozigosidade média (He) foi de 0,2461 e 0,0309 em H. boulengeri e H. cochliodon, respectivamente. Assim, este estudo relata os primeiros dados citogenéticos para H. boulengeri e os primeiros dados isoenzimáticos para H. boulengeri e H. cochliodon. As duas espécies apresentaram evidentes diferenças citogenéticas e isoenzimáticas com a obtenção de marcadores genéticos exclusivos fornecendo suporte para futuros estudos evolutivos no grupo.(AU)

Resumo

This study was conducted to investigate the polymorphism of the silence information regulator 5 (SIRT5) gene in 103 Congjiang Xiang pigs from Southwest China. We searched for SNP (single nucleotide polymorphism) loci of SIRT5 gene through sequence alignment and PCR. We obtained nine SNP loci: g.14135 A>C (intron 6), g.14247 C>A (intron 6), g.14305 C>T (exon 7), g.14335 C>T (exon 7), g.16603 T>C (intron 7), g.16613 T>C (intron 7), g.16800 G>A (intron 7), g.16812 C>G (intron 7), and g.16916 A>G (exon 8). Further analysis of SNP genotypes associated with the carcass traits of skin thickness, backfat thickness, and eye muscle area was carried out in pigs. We found that the genotypes g.14305 C>T (CC) and g.16812 C>G (CG) had certain advantages for improving the carcass traits of Congjiang Xiang pigs. The haplotype combination of the SIRT5 gene that improved skin thickness was H2H3:CCGGCTCA. These results may provide empirical support for molecular-based breeding of carcass traits in Congjiang Xiang pigs.(AU)

Resumo

The work aims to analyze the associations of polymorphic variants of the PRL and BLG genes with resistance and susceptibility to mastitis in Holstein cows. The experimental study consisted of the selection of biomaterial samples from 250 heads of Holstein cows aged 3 years divided into two groups (healthy and with a confirmed diagnosis of mastitis). The determination of animal genotypes was carried out using polymerase chain reaction and restriction fragment length polymorphism. The study of the nature of the association of polymorphic variants of the PRL and BLG gene with resistance/increased risk of mastitis established a significant deviation from the theoretically expected distribution of bBLG-HaeIII genotypes in the group of animals suffering from mastitis (the value of χ2 was 0.24). The bBLG-HaeIIIBB genotype can act as a marker of an increased risk of developing mastitis in Holstein cows; its frequency in the group of sick animals exceeds the frequency in the control group by more than 2 times (44.0 compared to 17.0%, respectively). The bBLG-HaeIIIAB genotype is significantly associated with mastitis resistance in Holstein cows; its frequency is 2 times lower than in the control group (28.0 compared to 54.0%).

O trabalho tem como objetivo analisar as associações de variantes polimórficas dos genes PRL e BLG com resistência e suscetibilidade à mastite em vacas holandesas. O estudo experimental consistiu na seleção de amostras de biomateriais de 250 cabeças de vacas holandesas com 3 anos de idade divididas em dois grupos (saudáveis e com diagnóstico confirmado de mastite). A determinação dos genótipos dos animais foi realizada utilizando reação em cadeia da polimerase e polimorfismo de comprimento de fragmentos de restrição. O estudo da natureza da associação de variantes polimórficas do gene PRL e BLG com resistência/risco aumentado de mastite estabeleceu um desvio significativo da distribuição teoricamente esperada dos genótipos bBLG-HaeIII no grupo de animais que sofrem de mastite (o valor de χ2 foi 0,24). O genótipo bBLG-HaeIIIBB pode atuar como marcador de risco aumentado de desenvolvimento de mastite em vacas holandesas; sua frequência no grupo de animais doentes excede a frequência no grupo controle em mais de duas vezes (44,0% contra 17,0%, respectivamente). O genótipo bBLG-HaeIIIAB está significativamente associado à resistência à mastite em vacas holandesas; sua frequência é duas vezes menor que no grupo controle (28,0% contra 54,0%).

Resumo

The growth hormone (GH) gene plays a vital role in regulating animal metabolism and body size, making it a potential candidate for influencing livestock performance. This study aimed to investigate the polymorphisms within the GH gene and their associations with 10 biometric traits in the Sumbawa cattle population of Indonesia. Biometric trait data and blood samples were collected from 112 Sumbawa cattle individuals, and their GH gene sequences were analyzed using two sets of primers for amplification. Seven single nucleotide polymorphisms (SNPs) were identified in the GH gene: g.442C>T, g.446G>C, g.558C>T, g.649C>A, g.1492C>A, g.1510C>A, and g.1578G>A. All SNPs were located in the intronic region except for SNP g.558C>T, which was found in the coding sequence (CDS) region. The SNP g.558C>T is classified as a synonymous variant. Haplotype analysis revealed a strong linkage disequilibrium between SNPs g.558C>T and g.649C>A. Distributions of genotypes and alleles of all SNPs were in agreement with the Hardy-Weinberg equilibrium (p > 0.05, χ2 < 15.56), except for SNPs g.446G>C and g.1492C>A. The association study showed that the SNP g.442C>T significantly (p < 0.05) affected HL, BL, SH, and PH traits in Sumbawa cattle. Additionally, the g.446G>C and g.558C>T were also found to be associated with PH and CC traits, respectively. The polymorphisms detected in the GH gene could have implications for selection programs to enhance desired biometric traits in Sumbawa cattle. Improving livestock productivity can be done by understanding genetic diversity and its relationship with phenotypic characteristics.

O gene do hormônio de crescimento (GH) desempenha um papel vital na regulação do metabolismo animal e do tamanho corporal, tornando-se um potencial candidato para influenciar o desempenho do gado. Este estudo teve como objetivo investigar os polimorfismos dentro do gene GH e suas associações com 10 características biométricas na população de gado Sumbawa da Indonésia. Dados de características biométricas e amostras de sangue foram coletados de 112 indivíduos de gado Sumbawa, e suas sequências genéticas do gene GH foram analisadas usando dois conjuntos de primers para amplificação. Sete polimorfismos de nucleotídeo único (SNPs) foram identificados no gene GH: g.442C>T, g.446G>C, g.558C>T, g.649C>A, g.1492C>A, g.1510C>A e g.1578G>A. Todos os SNPs estavam localizados na região intrônica, exceto o SNP g.558C>T, que foi encontrado na região da sequência de codificação (CDS). O SNP g.558C>T é classificado como uma variante sinônima. A análise de haplótipos revelou um forte desequilíbrio de ligação entre os SNPs g.558C>T e g.649C>A. As distribuições de genótipos e alelos de todos os SNPs estavam de acordo com o equilíbrio de Hardy-Weinberg (p > 0,05, χ2 < 15,56), exceto para os SNPs g.446G>C e g.1492C>A. O estudo de associação mostrou que o SNP g.442C>T afetou significativamente (p < 0,05) as características HL, BL, SH e PH no gado Sumbawa. Além disso, o g.446G>C e o g.558C>T também foram encontrados associados às características PH e CC, respectivamente. Os polimorfismos detectados no gene GH podem ter implicações para programas de seleção visando melhorar as características biométricas desejadas no gado Sumbawa. A melhoria da produtividade pecuária pode ser feita através da compreensão da diversidade genética e sua relação com as características fenotípicas.

Resumo

The present work was to study the genetic variability between the major carps Labeo rohita and Cirrhinus mrigala and their hybrids of L. rohita (male♂) and C. mrigala (female♀). Genetic variability was studied by employing RAPD molecular markers. 25 samples of each target species having different sizes with the same age group for the determination of interspecific variation were collected. The morphometric parameters such as body weight, total length, tail length, and lengths of dorsal and anal fins of each individual were recorded and results showed that wet body weight, total length, dorsal fin, anal fin, and tail fin length are positively correlated and then the DNA was extracted using the inorganic salt-based method and conformed by Gel electrophoresis. Twenty-four arbitrary decamer primers were used to get species-specific RAPD analysis Distinct and highly reproducible RAPD profiles with significant genetic variability was detected among species. Only five primers showed amplification. The RAPAD primer OPB-05 produced a total of seven bands out of these 5 monomorphic and 2 polymorphic, so in this case, the percentage polymorphism was 28.57%. The Hybrid show more than a 50% difference from the Labeo rohita. This shows that the Hybrid more resembles C.mrigala. Phylogenetic analysis demonstrated that hybrid (L. rohita ♂ X Cirrhinus mrigala ♀) is the closest to C. mrigala and the farthest from L. rohita. Overall data are presented concerning the applications of RAPD markers for hybrid identification, genetic diversity assessment, and studying taxonomic relationships at a molecular level.

O presente trabalho teve como objetivo estudar a variabilidade genética entre as carpas maiores Labeo rohita e Cirrhinus mrigala e seus híbridos de L. rohita (machos) e C. mrigala (fêmeas). A variabilidade genética foi estudada empregando marcadores moleculares RAPD. 25 amostras de cada espécie-alvo com tamanhos diferentes e com a mesma faixa etária foram coletadas para a determinação da variação interespecífica. Os parâmetros morfométricos como peso corporal, comprimento total, comprimento da cauda e comprimento das nadadeiras dorsal e anal de cada indivíduo foram registrados. O DNA foi extraído através do método à base de sal inorgânico e conformado por eletroforese em gel. 24 primers decâmeros arbitrários foram usados ​​para obter a análise RAPD espécie-específica. Perfis RAPD distintos e altamente reprodutíveis com significativa variabilidade genética foram detectados entre as espécies. Apenas 5 primers apresentaram amplificação. O primer RAPAD OPB-05 produziu um total de 7 bandas, dessas, 5 monomórficas e 2 polimórficas, portanto, neste caso, o percentual de polimorfismo foi de 28,57%. O Hybrid mostrou mais de 50% de diferença do Labeo rohita. Isso mostra que o híbrido se parece mais com o C.mrigala. A análise filogenética demonstrou que o híbrido (L. rohita macho X Cirrhinus mrigala fêmea) é o mais próximo de C. mrigala e o mais distante de L. rohita. Foram apresentados dados relativos à aplicação de marcadores RAPD para identificação de híbridos, avaliação de diversidade genética e estudo de relações taxonômicas ao nível molecular.

Resumo

Background: The relationship between viral infections and host factors holds high hopes for identifying the role of Interferon Lambda 3 (IFNL3) and Interleukin 6 (IL-6) polymorphisms in the development of Chronic Liver Disease (CLD) in patients infected with hepatitis Delta virus (HDV) in the Western Brazilian Amazon. Methods: Cross-sectional study conducted with a cohort of 40 chronic HDV patients, 27 with CLD and 13 without evident liver damage. Biological samples from the participants were analyzed using the polymerase chain reaction (PCR) technique, followed by sequencing by the automated Sanger method. Results: The rs8099917 T allele, from the IFNL3 gene, showed a higher frequency in both groups; however, it was not possible to establish an association with HDV infection [OR = 1.42 (0.42 - 4.75; p = 0.556 (95% CI). For IL-6, the rs1800795 G allele was superior to rs1800795 C. Analyzing both distributions in the studied groups, any association with HDV was absent (p > 0.05). Conclusion: The results suggest that the rs8099917 T/G (IFNL3) and rs1800795 G/C (IL-6) polymorphisms are not associated with the evolution of HDV in the studied population.

Resumo

An increase in genetic diversity of bread wheat caused by spring x winter forms leads to an alteration of genetic control of maturity time. Maturity time (MAT) is one of major yield components in wheat, which has two components: the heading date (HD) and grain-filling period (GFP). Using the Illumina Infinium 25k platform we analyzed the genetic control of the HD, GFP and MAT in the F2 and F2:3 populations from a cross between late-ripening spring/winter line 124-1 and spring wheat cultivar Novosibirskaya 31, possessing the same allelic composition of the VRN1 and PPD-D1 genes. The phenotypic evaluation of the populations studied was performed during three years. A total of 17 QTLs were mapped, out of which 4 QTLs for MAT or its components were confirmed over two years. Two common MAT and HD QTLs were identified on the 4A chromosome, and two loci controlling GFP and MAT were found on 6B chromosome. An environmentally stable HD QTL QHd.icg-7B.1 was associated with the FT-B1 gene having a non-synonymous polymorphism [G/C] in its coding region. A novel НD QTL was identified on 7D chromosome. QTL dissection allowed to propose putative genes for QMat.icg4-A and QMat.icg6-B, namely the SPL family gene (TraesCS4A02G359500) and the TCP transcription factor (TraesCS6B02G462100), respectively. The results of this study provide information for further investigation into wheat development.

O aumento na diversidade genética do trigo de pão, causado pela combinação de variedades de primavera e inverno, leva a uma alteração no controle genético do tempo de maturação. O tempo de maturação (MAT) é um dos principais componentes do rendimento do trigo, composto por dois elementos: a data de início (HD) e o período de enchimento do grão (GFP). Utilizando a plataforma Illumina Infinium 25k, analisamos o controle genético de HD, GFP e MAT nas populações F2 e F2:3 resultantes de um cruzamento entre a linhagem de primavera/inverno de maturação tardia 124-1 e a cultivar de trigo de primavera Novosibirskaya 31, que possuem a mesma composição alélica dos genes VRN1 e PPD-D1. A avaliação fenotípica das populações estudadas foi realizada ao longo de três anos. Mapeamos um total de 17 QTLs, dos quais 4 QTLs relacionados ao MAT ou seus componentes foram confirmados ao longo de dois anos. Identificamos dois QTLs comuns para MAT e HD no cromossomo 4A, e dois loci controladores de GFP e MAT foram encontrados no cromossomo 6B. Um QTL HD ambientalmente estável, QHd.icg-7B.1, foi associado ao gene FT-B1, que possui um polimorfismo não sinônimo [G/C] em sua região codificadora. Um novo QTL HD foi identificado no cromossomo 7D. A análise dos QTL permitiu propor genes putativos para QMat.icg4-A e QMat.icg6-B, nomeadamente o gene da família SPL (TraesCS4A02G359500) e o fator de transcrição TCP (TraesCS6B02G462100), respectivamente. Os resultados deste estudo fornecem informações para investigações posteriores sobre o desenvolvimento do trigo.

Resumo

Garlic (Allium sativum) is an important cash food crop, and the biotechnology industry has considerable interest in the plant because of its medicinal importance. These medicinal properties are attributed to organosulphur compounds as the accumulation of these compounds varies according to genotype, locality, light quality, and cultivation practices. In this study, we compared a newly developed garlic variety NARC-G1 by National Agricultural Research Centre (NARC), Islamabad, Pakistan with three different garlic cultivars and highlighted the distinctive attributes like phenotypic characteristics, the content of allicin, elemental profile, and gene polymorphism. Phenotypic analysis showed NARC-G1 has significantly higher bulb weight (66.36g ± 18.58), single clove weight (5.87g ± 1.041), and clove width (17.41mm ± 0.95) which directly correlates to the size of the garlic. The analytical analysis showed the highest allicin content (4.82 ± 0.001) in NARC-G1. Genotyping of the alliinase in all four cultivars showed indels in the gene resulting in distinguishable changes in organosulphur compounds' profile. NARC-G1 is unique from other garlic cultivars and could be the best choice for mass production with proper cultivation and irrigation management. Moreover, for Pakistan NARC-G1 could be a potential contender to earn the industrial benefits with inland cultivation instead of importing garlic alleviating the economic burden.

O alho (Allium sativum) é uma importante cultura alimentar de rendimento e a indústria biotecnológica tem um interesse considerável na planta devido à sua importância medicinal. As propriedades medicinais são atribuídas aos compostos organossulfurados, enquanto o acúmulo de sulfóxidos de cisteína (CSOs) varia de acordo com genótipo, localidade, qualidade da luz e práticas de cultivo. Neste estudo, comparamos uma variedade de alho recém-desenvolvida NARC-G1 pelo Centro Nacional de Pesquisa Agropecuária (NARC), Islamabade, Paquistão, com três diferentes cultivares de alho, e destacamos os atributos distintivos, como características fenotípicas, conteúdo de alicina, perfil elementar e gene polimorfismo. A análise fenotípica mostrou que o NARC-G1 tem peso de bulbo significativamente maior (66.36g ± 18.58), peso de um único dente (5.87g ± 1.041) e largura do dente (17.41mm ± 0.95), o que se correlaciona diretamente com o tamanho do alho. A análise analítica indicou maior teor de alicina (4.82 ± 0.001) no NARC-G1. A genotipagem do gene da aliinase em todas as quatro cultivares mostrou indels no gene, resultando em mudanças distinguíveis no perfil das CSOs. O NARC-G1 é único em relação a outras cultivares de alho e pode ser a melhor escolha para produção em massa com cultivo adequado e manejo de irrigação. Além disso, para o Paquistão, o NARC-G1 pode ser um potencial candidato para obter os benefícios industriais com o cultivo no interior, em vez de importar alho, aliviando o ônus econômico.

Resumo

The number of antral follicles is considered an important fertility trait because animals with a high follicle count (HFC) produce more oocytes and embryos per cycle. Identification of these animals by genetic markers such as single nucleotide polymorphisms (SNPs) can accelerate selection of future generations. The aim of this study was to perform a genome wide association study (GWAS) on Nelore and Angus heifers with HFC and low (LFC) antral follicle counts. The groups HFC and LFC for genotyping were formed based on the average of total follicles (≥ 3 mm) counted in each breed consistently ± standard deviation. A total of 72 Nelore heifers (32 HFC and 40 LFC) and 48 Angus heifers (21 HFC and 27 LFC) were selected and the DNA was extracted from blood and hair bulb. Genotyping was done using the Illumina Bovine HD 770K BeadChip. The GWAS analysis showed 181 and 201 SNPs with genotype/phenotype association (P ≤ 0.01) in Nelore and Angus heifers, respectively. Functional enrichment analysis was performed on candidate genes that were associated with SNPs. A total of 97 genes were associated to the 181 SNPs in the Nelore heifers and the functional analysis identified genes (ROBO1 and SLIT3) in the ROBO-SLIT pathway that can be involved in the control of germ cell migration in the ovary as it is involved in lutheal cell migration and fetal ovary development. In the Angus heifers, 57 genes were associated with the 201 SNPs, highlighting Fribilin 1 (FBN1) gene, involved in regulation of growth factors directly involved in follicle activation and development. In summary, GWAS for Nelore and Angus heifers showed SNPs associated with higher follicle count phenotype. Furthermore, these findings offer valuable insights for the further investigation of potential mechanism involved in follicle formation and development, important for breeding programs for both breeds.(AU)

Resumo

Abstract Several reasons may underlie the dramatic increase in type2 diabetes mellitus. One of these reasons is the genetic basis and variations. Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes. The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236). Eighty-nine healthy individuals and Fifty-six Type 2 Diabetic (T2D) patients were investigated using RFLP technique for genotyping and haplotyping as well. The distribution of Apal genotypes was not statistically significant among the control (P=0.65) as well as for diabetic patients (P=0.58). For Taql allele frequencies of T allele was 0.61 where of G allele was 0.39. The frequency distribution of Taql genotypes was not statistically significant among the control (P=0.26) as well as diabetic patients (P=0.17). Relative risk of the allele T of Apa1 gene is 1.28 and the odds ratio of the same allele is 1.53, while both estimates were < 1.0 of the allele G. Similarly, with the Taq1 gene the relative risk and the odds ratio values for the allele T are 1.09 and 1.27 respectively and both estimates of the allele C were 0.86 for the relative risk and 0.79 for the odds ratio. The pairwise linkage disequilibrium between the two SNPs Taq1/apa1 was statistically significant in control group (D = 0.218, D' = 0.925 and P value < 0.001) and similar data in diabetic groups (D = 0.2, D' = 0.875 and P value < 0.001). These data suggest that the T allele of both genes Apa1 and Taq1 is associated with the increased risk of type 2 diabetes. We think that we need a larger number of volunteers to reach a more accurate conclusion.

Resumo Várias razões podem estar subjacentes ao aumento dramático da diabetes mellitus tipo 2. Um desses motivos é a base genética e variações. Os polimorfismos do receptor da vitamina D estão associados a diferentes doenças, como artrite reumatoide e diabetes. O objetivo deste estudo é investigar a possível associação de duas mutações identificadas ApaI (rs7975232) e TaqI (rs731236). Oitenta e nove indivíduos saudáveis ​​e 56 pacientes com diabetes tipo 2 (T2D) foram investigados usando a técnica RFLP para genotipagem e haplotipagem também. A distribuição dos genótipos Apal não foi estatisticamente significativa entre o controle (P = 0,65), bem como para os pacientes diabéticos (P = 0,58). Para as frequências do alelo Taql, o alelo T foi de 0,61, onde o alelo G foi de 0,39. A distribuição de frequência dos genótipos Taql não foi estatisticamente significativa entre o controle (P = 0,26), bem como os pacientes diabéticos (P = 0,17). O risco relativo do alelo T do gene Apa1 é 1,28 e a razão de chances do mesmo alelo é 1,53, enquanto ambas as estimativas foram < 1,0 do alelo G. Da mesma forma, com o gene Taq1, os valores de risco relativo e razão de chances para o alelo T são 1,09 e 1,27, respectivamente, e ambas as estimativas do alelo C foram de 0,86 para o risco relativo e 0,79 para o odds ratio. O desequilíbrio de ligação par a par entre os dois SNPs Taq1 / apa1 foi estatisticamente significativo no grupo de controle (D = 0,218, D' = 0,925 e valor P < 0,001) e dados semelhantes em grupos diabéticos (D = 0,2, D' = 0,875 e valor P < 0,001). Esses dados sugerem que o alelo T de ambos os genes Apa1 e Taq1 está associado ao aumento do risco de diabetes tipo 2. Achamos que precisamos de um número maior de voluntários para chegar a uma conclusão mais precisa.

Resumo

Leaf rust, caused by Puccinia triticina, is the most common rust disease of wheat. The fungus is an obligate parasite capable of producing infectious urediniospores. To study the genetic structure of the leaf rust population 20 RAPD primers were evaluated on 15 isolates samples collected in Pakistan. A total of 105 RAPD fragments were amplified with an average of 7 fragments per primer. The number of amplified fragments varied from 1 to 12. GL Decamer L-07 and GL Decamer L-01 amplified the highest number of bands (twelve) and primer GL Decamer A-03 amplified the lowest number of bands i.e one. Results showed that almost all investigated isolates were genetically different that confirms high genetic diversity within the leaf rust population. Rust spores can follow the migration pattern in short and long distances to neighbor areas. Results indicated that the greatest variability was revealed by 74.9% of genetic differentiation within leaf rust populations. These results suggested that each population was not completely identical and high gene flow has occurred among the leaf rust population of different areas. The highest differentiation and genetic distance among the Pakistani leaf rust populations were detected between the leaf rust population in NARC isolate (NARC-4) and AARI-11and the highest similarity was observed between NARC isolates (NARC-4) and (NARC-5). The present study showed the leaf rust population in Pakistan is highly dynamic and variable.

A ferrugem da folha, causada por Puccinia triticina, é a ferrugem mais comum do trigo. O fungo é um parasita obrigatório, capaz de produzir urediniósporos infecciosos. Para estudar a estrutura genética da população de ferrugem da folha, 20 primers RAPD foram avaliados em 15 amostras de isolados coletadas no Paquistão. Um total de 105 fragmentos RAPD foram amplificados com uma média de 7 fragmentos por primer. O número de fragmentos amplificados variou de 1 a 12. GL Decamer L-07 e GL Decamer L-01 amplificaram o maior número de bandas (doze), e o primer GL Decamer A-03 amplificou o menor número de bandas, ou seja, um. Os resultados mostraram que quase todos os isolados investigados eram geneticamente diferentes, o que confirma a alta diversidade genética na população de ferrugem da folha. Os esporos de ferrugem podem seguir o padrão de migração em distâncias curtas e longas para áreas vizinhas. Os resultados indicaram que a maior variabilidade foi revelada por 74,9% da diferenciação genética nas populações de ferrugem. Esses resultados sugeriram que cada população não era completamente idêntica e um alto fluxo gênico ocorreu entre a população de ferrugem da folha de diferentes áreas. A maior diferenciação e distância genética entre as populações de ferrugem da folha do Paquistão foram detectadas entre a população de ferrugem da folha no isolado NARC (NARC-4) e AARI-11 e a maior similaridade foi observada entre os isolados NARC (NARC-4) e (NARC-5). O presente estudo mostrou que a população de ferrugem da folha no Paquistão é altamente dinâmica e variável.

Resumo

Abstract Cancer is a fatal malignancy and its increasing worldwide prevalence demands the discovery of more sensitive and reliable molecular biomarkers. To investigate the GINS1 expression level and its prognostic value in distinct human cancers using a series of multi-layered in silico approach may help to establish it as a potential shared diagnostic and prognostic biomarker of different cancer subtypes. The GINS1 mRNA, protein expression, and promoter methylation were analyzed using UALCAN and Human Protein Atlas (HPA), while mRNA expression was further validated via GENT2. The potential prognostic values of GINS1 were evaluated through KM plotter. Then, cBioPortal was utilized to examine the GINS1-related genetic mutations and copy number variations (CNVs), while pathway enrichment analysis was performed using DAVID. Moreover, a correlational analysis between GINS1 expression and CD8+ T immune cells and a the construction of gene-drug interaction network was performed using TIMER, CDT, and Cytoscape. The GINS1 was found down-regulated in a single subtypes of human cancer while commonly up-regulated in 23 different other subtypes. The up-regulation of GINS1 was significantly correlated with the poor overall survival (OS) of Liver Hepatocellular Carcinoma (LIHC), Lung Adenocarcinoma (LUAD), and Kidney renal clear cell carcinoma (KIRC). The GINS1 was also found up-regulated in LIHC, LUAD, and KIRC patients of different clinicopathological features. Pathways enrichment analysis revealed the involvement of GINS1 in two diverse pathways, while few interesting correlations were also documented between GINS1 expression and its promoter methylation level, CD8+ T immune cells level, and CNVs. Moreover, we also predicted few drugs that could be used in the treatment of LIHC, LUAD, and KIRC by regulating the GINS1 expression. The expression profiling of GINS1 in the current study has suggested it a novel shared diagnostic and prognostic biomarker of LIHC, LUAD, and KIRC.

Resumo O câncer é uma doença maligna fatal e sua crescente prevalência mundial exige a descoberta de biomarcadores moleculares mais sensíveis e confiáveis. Investigar o nível de expressão de GINS1 e seu valor prognóstico em cânceres humanos distintos, usando uma série de abordagens in silico em várias camadas, pode ajudar a estabelecê-lo como um potencial biomarcador de diagnóstico e prognóstico compartilhado de diferentes subtipos de câncer. O mRNA de GINS1, a expressão da proteína e a metilação do promotor foram analisados ​​usando UALCAN e Human Protein Atlas (HPA), enquanto a expressão de mRNA foi posteriormente validada via GENT2. Os valores prognósticos potenciais de GINS1 foram avaliados por meio do plotter KM. Em seguida, o cBioPortal foi utilizado para examinar as mutações genéticas relacionadas ao GINS1 e as variações do número de cópias (CNVs), enquanto a análise de enriquecimento da via foi realizada usando DAVID. Além disso, uma análise correlacional entre a expressão de GINS1 e células imunes T CD8 + e a construção de uma rede de interação gene-droga foi realizada usando TIMER, CDT e Cytoscape. O GINS1 foi encontrado regulado negativamente em um único subtipo de câncer humano, enquanto comumente regulado positivamente em 23 outros subtipos diferentes. A regulação positiva de GINS1 foi significativamente correlacionada com a sobrevida global pobre (OS) de Carcinoma Hepatocelular de Fígado (LIHC), Adenocarcinoma de Pulmão (LUAD) e Carcinoma de Células Claras Renais de Rim (KIRC). O GINS1 também foi encontrado regulado positivamente em pacientes LIHC, LUAD e KIRC de diferentes características clínico-patológicas. A análise de enriquecimento de vias revelou o envolvimento de GINS1 em duas vias diversas, enquanto poucas correlações interessantes também foram documentadas entre a expressão de GINS1 e seu nível de metilação do promotor, nível de células imunes T CD8 + e CNVs. Além disso, também previmos poucos medicamentos que poderiam ser usados ​​no tratamento de LIHC, LUAD e KIRC, regulando a expressão de GINS1. O perfil de expressão de GINS1 no estudo atual sugeriu que é um novo biomarcador de diagnóstico e prognóstico compartilhado de LIHC, LUAD e KIRC.

Resumo

Cichlid fishes exhibit rapid adaptive radiations with significant diversification rates in response to ecological variability, i.e., ecological opportunity or geographical isolation. The discovery of a Midas cichlid species in Lake Batur, Indonesia's largest volcanic lake, first reported in 2013, could represent such adaptations. Midas cichlids can now be found in a range of habitats in Lake Batur and dominate the lake's fish population by up to 60%. This study aimed to identify the interaction between habitat, water quality, and Midas cichlid in Lake Batur, facilitating morphometric variances in the fish populations. The fish were captured at five locations in Lake Batur using fishing rods, community nets with mesh sizes of 2-3 inches, experimental gillnets with mesh sizes of 1 inch, and fish scoops in floating net cages during August and November 2022. There were 46 fish samples caught from the five stations, all photographed using a digital camera and later measured using the ZEN 2012 software. The fish measurement employed a truss morphometric method using 21 distinct morphometric body features. Canonical analysis was used to determine the distribution of characteristics, while discriminant analysis was used to examine the closeness of association. The measured water quality parameters included pH, DO, temperature, conductivity, and TDS for in-situ and TSS, TP, TN, and chlorophyll A for ex-situ. The findings revealed morphometric changes among Midas cichlid species in Lake Batur caused by habitat and water quality differences. The distinction can be detected in the anterior and posterior bodies (C1, B1, C3, C6, C5, B3 and B4). Temperature and aquatic plants, Azolla pinnata, may detect the station and shape of fish in Lake Batur. Body shape cannot be identified by chlorophyll A, TN, DO, and TDS. Future genetic research could answer why fish groups with varied body types coexist in the same location.

Os peixes ciclídeos exibem radiações adaptativas rápidas com taxas de diversificação significativas em resposta à variabilidade ecológica, ou seja, oportunidade ecológica ou isolamento geográfico. A descoberta de uma espécie de ciclídeo Midas em Lago Batur, o maior lago vulcânico da Indonésia, relatada pela primeira vez em 2013, poderia representar tais adaptações. Os ciclídeos Midas agora podem ser encontrados em uma variedade de hábitats no Lago Batur, onde dominam a população de peixes em até 60%. Este estudo teve como objetivo identificar a interação entre hábitat, qualidade da água e ciclídeo Midas no Lago Batur, facilitando variações morfométricas nas populações de peixe. Os peixes foram capturados em cinco locais no Lago Batur usando varas de pesca, redes comunitárias com malhas de 2-3 polegadas, redes de emalhar experimentais com malhas de 1 polegada e colheres de peixe em gaiolas de rede flutuantes, durante agosto e novembro de 2022. Foram capturadas 46 amostras de peixes nas cinco estações, todas fotografadas com câmera digital e posteriormente medidas no software ZEN 2012. A medição dos peixes empregou um método morfométrico de treliça usando 21 características morfométricas distintas do corpo. A análise canônica foi utilizada para determinar a distribuição das características, enquanto a análise discriminante foi empregada para examinar a proximidade da associação. Os parâmetros de qualidade da água medidos incluíram pH, OD, temperatura, condutividade e TDS para in situ, e TSS, TP, TN e clorofila A para ex situ. As descobertas revelaram mudanças morfométricas entre as espécies de ciclídeos Midas no Lago Batur, causadas por diferenças de hábitat e qualidade da água. A distinção pode ser detectada nos corpos anterior e posterior (C1, B1, C3, C6, C5, B3 e B4). A temperatura e as plantas aquáticas, Azolla pinnata, podem detectar a estação e o formato dos peixes no Lago Batur. A forma do corpo não pode ser identificada pela clorofila A, TN, OD e TDS. Futuras pesquisas genéticas poderiam responder por que grupos de peixes com tipos corporais variados coexistem no mesmo local.

Resumo

The aim of current study was to survey genetic variability of PALM gene'sexon 3 and 4 by PCR-SSCP and DNA sequencing in Zel and Lori Bakhtiari sheep breeds. TheSIFT(Sorting Intolerant from Tolerant) and PHyre2 program were used to predict the possible impact of amino acid substitutions on performance and structure of the paralemmin protein. A total of 140 animal's from 2 Iranian sheep breeds with different fat metabolisms, Lori-Bakhtiari and Zel sheep breeds were considered. The results showed that there are two polymorphic sites including a nonsynonymous substitution and an insertion mutation (49bp). Non-synonymous mutation deduced Thr20Ala amino acid exchange and ensuing two different structures for paralemmin protein that could be potentially affect protein structure and function during the interaction with glutamate in the cytosolic surface of plasma membrane. PALMgene, according to evolutionary path, is classified into two separate categories. In first covey, Gallus gallusand in second one, other species in several branches, so that the sequence of cow and sheep is placed in a sub-branch which forms a clade beside goat. Comparison of illustrated coding region sequences, PALMgene among different species, is of orthologous which are derived from a common ancestor.(AU)

Resumo

MC1R plays a crucial role in controlling the type of melanin synthesized in the melanocytes, which greatly affects plumage color in birds. One g.16796362G/T SNP was found in the MC1R gene coding region, which caused a Met120Ile mutation in the amino acid sequence. The Met120Ile mutation was located in the third transmembrane domain of the MC1R protein and decreased protein stability. The g.16796362G/T locus achieved medium polymorphism and had significant association with feather melanin content in Chinese yellow quails. The contents of total melanin and pheomelanin with AA genotype were significant lower than those with AB or BB genotypes in skin tissues, while the expression levels of MC1R mRNA had no significant difference in feathers with different genotypes. This experiment indicated that the Met120Ile mutation could affect the function of the MC1R protein and change the biosynthesis of melanin in Chinese yellow quails.(AU)