Polimorfismos nos genes MyoD1, MyoG, MyF5, MyF6 e MSTN em ovinos Santa Inês

The objective of this work was to sequence the MyoD1, MyoG, MyF5, MyF6, and MSTN genes and to identify polymorphisms in Santa Inês sheep (Ovis aries). A total of 192 lambs with 240 days of age were evaluated, and these genes were sequenced to be compared with the reference sequence in the Ovis aries genome. Genotype and allele frequencies were estimated, and the Hardy-Weinberg equilibrium was tested. Fragments containing 2,493 bp (MyoD1), 1,836 bp (MyoG), 2,813 bp (MyF5), 1,126 bp (MyF6), and 2,380 bp (MSTN) were obtained, and, in these sequences, 160 variants were identified. These polymorphisms were distributed as follows: 59 (MyoD1), 24 (MyoG), 63 (MyF5), 4 (MyF6), and 10 (MSTN). One hundred and four were novel polymorphisms, 45 in MyoD1, 2 in MyoG, 56 in MyF5, and 1 in MSTN. Regarding site, 61 were in intron (27 in MyoD1, 16 in MyoG, 5 in MyF5, 3 in MyF6, and 10 in MSTN), 87 in coding region (22 in MyoD1, 8 in MyoG, 56 in MyF5, and 1 in MyF6), and 12 on 3’UTR (10 in MyoD1 and 2 in MyF5). Therefore, the MyoD family and MSTN genes have several polymorphisms in Santa Inês sheep, which can be useful for association studies.O objetivo deste trabalho foi sequenciar os genes MyoD1, MyoG, MyF5, MyF6 e MSTN e identificar polimorfismos em ovinos Santa Inês (Ovis aries). No total, 192 cordeiros com 240 dias de idade foram avaliados, e estes genes foram sequenciados para comparação com a sequência-referência no genoma de Ovis aries. As frequências genotípicas e alélicas foram estimadas, e o equilíbrio de Hardy-Weinberg, testado. Foram obtidos fragmentos contendo 2.493 pb (MyoDl), 1.836 pb (MyoG), 2.813 pb (MyF5), 1.126 pb (MyF6) e 2.380 pb (MSTN), e, nessas sequências, foram identificadas 160 variantes. Esses polimorfismos foram distribuídos da seguinte forma: 59 (MyoD1), 24 (MyoG), 63 (MyF5), 4 (MyF6) e 10 (MSTN). Foram encontrados 104 novos polimorfismos, sendo 45 no MyoD1, 2 no MyoG, 56 no MyF5 e 1 no MSTN. Com relação ao local, 61 variantes estavam em íntron (27 no MyoD1, 16 no MyoG, 5 no MyF5, 3 no MyF6 e 10 no MSTN), 87 em região codificante (22 no MyoD1, 8 no MyoG, 56 no MyF5 e 1 no MyF6) e 12 na região 3’UTR (10 no MyoD1 e 2 no MyF5). Portanto, os genes da família MyoD e o MSTN possuem vários polimorfismos em ovinos da raça Santa Inês, os quais podem ser úteis em estudos de associação

Parâmetros qualitativos da silagem de milheto amonizada com ureia, a diferentes densidades de compactação

The objective of this work was to evaluate the effects of urea ammoniation of pearl millet silage, at different compaction densities, on chemical composition, losses in the ensilage process, fermentation profile, microbial population count, and aerobic stability. The experimental design was completely randomized, in a 2×4 factorial arrangement, with two compaction densities (600 and 800 kg m-3) and four urea levels (0, 2, 4, and 6% on a dry matter basis), with five replicates. For the aerobic stability assay, the experimental design was completely randomized, in a 2×4 factorial arrangement, with two times (0 and 72 hours) and four urea levels (0, 2, 4, and 6%, on dry matter basis), with five replicates. The urea levels interacted significantly with density as to the contents of organic matter, crude protein, neutral detergent insoluble protein, and as to dry matter recovery; and with exposure hours as to the contents of acid detergent fiber and lignin. Molds and yeasts were not observed in the ammoniated silages. The 800 kg m-3 density reduced losses in the fermentation process of pearl millet silage, and promoted better nutritive value than the compaction at 600 kg m-3. The use of urea does not reduce losses and does not improve the aerobic stability of silages; however, it controls mold growth after silage exposure to air.O objetivo deste trabalho foi avaliar a amonização com ureia em silagens de milheto com diferentes densidades de compactação, quanto aos seus efeitos sobre a composição químico-bromatológica, as perdas no processo de ensilagem, o perfil fermentativo, a contagem de populações microbianas e a estabilidade aeróbia. Utilizou-se o delineamento inteiramente casualizado, em arranjo fatorial 2×4, com duas densidades de compactação (600 e 800 kg m-3) e quatro níveis de ureia (0, 2, 4 e 6% com base na matéria seca), com cinco repetições. Na avaliação da estabilidade aeróbia, utilizou-se o delineamento experimental inteiramente casualizado, em arranjo fatorial 2×4, com dois tempos (0 e 72 horas) e quatro níveis de ureia (0, 2, 4 e 6%, com base na matéria seca), com cinco repetições. Os níveis de ureia interagiram significativamente com a densidade, quanto aos teores de matéria orgânica, proteína bruta, proteína insolúvel em detergente neutro e quanto à recuperação de matéria seca; e com o tempo de exposição, quanto aos teores de fibra em detergente ácido e de lignina. Não se observaram mofos e leveduras nas silagens amonizadas. A densidade de compactação de 800 kg m-3 reduziu as perdas no processo de ensilagem do milheto e proporcionou silagem de maior valor nutritivo do que a compactação a 600 kg m-3. O uso de ureia não reduz as perdas e não melhora a estabilidade aeróbia das silagens; no entanto, controla o crescimento de mofos após a exposição da silagem ao ar

Qualitative parameters of pearl millet silage ammoniated with urea, at different compaction densities

Pic Maurice. Note sur le genre Rhipidius Thunb. [Col.]. In: Bulletin de la Société entomologique de France, volume 10 (18),1905. p. 252

Frequency of TERT promoter mutations in human cancers

Reactivation of telomerase has been implicated in human tumorigenesis, but the underlying mechanisms remain poorly understood. Here we report the presence of recurrent somatic mutations in the TERT promoter in cancers of the central nervous system (43%), bladder (59%), thyroid (follicular cell-derived, 10%) and skin (melanoma, 29%). In thyroid cancers, the presence of TERT promoter mutations (when occurring together with BRAF mutations) is significantly associated with higher TERT mRNA expression, and in glioblastoma we find a trend for increased telomerase expression in cases harbouring TERT promoter mutations. Both in thyroid cancers and glioblastoma, TERT promoter mutations are significantly associated with older age of the patients. Our results show that TERT promoter mutations are relatively frequent in specific types of human cancers, where they lead to enhanced expression of telomerase.We thank to Mrs Mafalda Rocha for the excellent technical support in the sequencing work. This work was partially supported by the Portuguese Science and Technology Foundation (FCT) through BPD (SFRH/BPD/85249/2012 to H. P.), PhD (SFRH/BD/81940/2011 to J.V. and SFRH/BD/79135/2011 to A. A.) and BI grants, and the grant through the Program Ciencia 2008 (J.L.) and the project (PIC/IC/83037/2007). Further funding was obtained from the project 'Microenvironment, metabolism and cancer' partially supported by Programa Operacional Regional do Norte (ON.2-O Novo Norte), under the Quadro de Referencia Estrategico Nacional (QREN), and through the Fundo Europeu de Desenvolvimento Regional (FEDER). IPATIMUP is an associate laboratory of the Portuguese Ministry of Science, Technology and Higher Education and is partially supported by the FCT