Homologous recombination DNA repair defects in PALB2-associated breast cancers

Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk of breast cancer development, consistent with the role of PALB2 in homologous recombination (HR) DNA repair. Here, we sought to define the repertoire of somatic genetic alterations in PALB2-associated breast cancers (BCs), and whether PALB2-associated BCs display bi-allelic inactivation of PALB2 and/or genomic features of HR-deficiency (HRD). Twenty-four breast cancer patients with pathogenic PALB2 germline mutations were analyzed by whole-exome sequencing (WES, n = 16) or targeted capture massively parallel sequencing (410 cancer genes, n = 8). Somatic genetic alterations, loss of heterozygosity (LOH) of the PALB2 wild-type allele, large-scale state transitions (LSTs) and mutational signatures were defined. PALB2-associated BCs were found to be heterogeneous at the genetic level, with PIK3CA (29%), PALB2 (21%), TP53 (21%), and NOTCH3 (17%) being the genes most frequently affected by somatic mutations. Bi-allelic PALB2 inactivation was found in 16 of the 24 cases (67%), either through LOH (n = 11) or second somatic mutations (n = 5) of the wild-type allele. High LST scores were found in all 12 PALB2-associated BCs with bi-allelic PALB2 inactivation sequenced by WES, of which eight displayed the HRD-related mutational signature 3. In addition, bi-allelic inactivation of PALB2 was significantly associated with high LST scores. Our findings suggest that the identification of bi-allelic PALB2 inactivation in PALB2-associated BCs is required for the personalization of HR-directed therapies, such as platinum salts and/or PARP inhibitors, as the vast majority of PALB2-associated BCs without PALB2 bi-allelic inactivation lack genomic features of HRD.Anqi Li … Gelareh Farshid … Grantley Gill … Eric Haan … James Kollias … et al

Temperatura base para aparecimento de folhas e filocrono da variedade de milho BRS Missões Base temperature for leaf appearance and phyllochron of the BRS Missões maize variety

O objetivo deste trabalho foi estimar a temperatura base para aparecimento de folhas e o filocrono em uma variedade de milho em várias datas de semeadura e dois anos de cultivo. Um experimento de campo foi realizado em Santa Maria, Rio Grande do Sul (RS), com sete datas de semeadura. Foi utilizada a variedade BRS Missões em dois anos agrícolas consecutivos (2005-06 e 2006-07). O delineamento experimental foi blocos ao acaso com seis repetições. A parcela foi composta por três linhas de 5m de comprimento no espaçamento 0,8m x 0,21m. Em cada parcela, foram marcadas ao acaso três plantas na linha central nas quais foi realizada semanalmente a contagem do número de folhas completamente expandidas (NFE) e o total (NFT). A temperatura base variou entre épocas de semeadura de 4,5 a 12&deg;C, com média próxima de 8&deg;C, valor que foi usado no cálculo da soma térmica. O filocrono foi maior quando calculado com base no NFE do que com base no NFT e variou com a data de semeadura, de 50,0 a 69,9&deg;C dia folha-1 e de 39,6 a 59,8&deg;C dia folha-1, respectivamente, sendo o fotoperíodo uma possível causa da variação do filocrono entre épocas.<br>The objective of this study was to estimate the base temperature for leaf appearance and the phyllochron of a maize variety in several sowing dates and two growing seasons. A field experiment was conducted in Santa Maria, RS, with seven sowing dates using the BRS Missões variety in two growing seasons (2005-06 and 2006-07). The experimental design was a completely randomized blocks, with six replications. Plots were three 5 m rows in a 0.8m x 0.21m spacing. Three plants in the central row of each plot were randomly tagged, and the number of fully expanded leaves (NFE) and the number of leaf tips (NFT) were counted once a week on the tagged plants. The base temperature varied with sowing date from 4.5 to 12&deg;C and an average of about 8&deg;C was used to calculate thermal time. Phyllochron was higher when calculated on an NFE basis than on a NFT basis, and varied with sowing date from 50.0 to 69.9&deg;C day leaf-1 and from 39.6 to 59.8&deg;C day leaf-1, respectively, with photoperiod being a likely cause to explain the variation in the phyllochron with sowing date

Amido no megagametófito de Araucaria angustifolia (Bert.) O. Ktze: degradação durante a germinação e desenvolvimento do esporófito Starchy reserve of the megagametophyte of Araucaria angustifolia (Bert.) O. Ktze: mobilization during germination and on the developing sporophyte

O pinheiro brasileiro possui um diásporo de grandes dimensões, o pinhão, rico em reservas amiláceas. A mobilização dessas reservas pelo embrião foi quantificada em secções transversais do megagametófito, em cinco estágios de desenvolvimento da plântula, sob dois tratamentos, na luz e no escuro. Na luz, o consumo das reservas do megagametófito pela plântula é mais rápido do que no escuro e, existe uma tendência ao consumo do amido realizar-se primeiro na região do megagametófito próxima ao embrião.<br>The parana pine has a very large dispore, the "pinhão", rich in starchy reserves. The mobilization of these reserves by the embryo was quantified in transversal sections of the megagametophyte, in five stages of seedling development, sampled in the light and in the darkness. The consuption of starch grains was in plantlets grown in light than those grown in darkness. There was a tendency to quicker use up of the the megagametophyte starch near to embryo