Architecture,composition and placement of nests of the Cipo Canastero Asthenes luizae (Aves: Furnariidae), a bird endemic to Brazilian mountaintops

Cipo Canastero (Asthenes luizae) is a bird endemic to Brazilian mountaintops, inhabiting rock outcrop habitats of the campos rupestres in the southern Espinhaço Range. Available data about Cipo Canastero’s breeding biology are scarce, incomplete or inconsistent. All nests found to date were built in the plant Vellozia nivea. Based on 84 nests found from 2009 to 2017 in four sites at Serra do Cipó, we described in detail their nesting habits focusing on three groups of characters: nest architecture, composition, and placement. Also, we described nest building. Our major new findings on the nesting habits of A. luizae were: three nest layers distinguishable, inner lining covering the entire nest interior, tunnels and tubes are absent, and the nest sites are not restricted to V. nivea. We recorded a wide range of nest sites, from ground, grasses and rupicolous bromeliads to shrubs and trees, including at least 30 supporting-plant species. Nest supports varied among study sites. Nest building lasted 22 days (one nest) and was done by both members of the pair. Our data can be useful for species conservation and contribute to the knowledge of the natural history of the genus Asthenes.     

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24

Prostate cancer is the most prevalent noncutaneous cancer in males in developed regions, with African American men having among the highest worldwide incidence and mortality rates. Here we report a second genetic variant in the 8q24 region that, in conjunction with another variant we recently discovered, accounts for about 11%-13% of prostate cancer cases in individuals of European descent and 31% of cases in African Americans. We made the current discovery through a genome-wide association scan of 1,453 affected Icelandic individuals and 3,064 controls using the Illumina HumanHap300 BeadChip followed by four replication studies. A key step in the discovery was the construction of a 14-SNP haplotype that efficiently tags a relatively uncommon (2%-4%) susceptibility variant in individuals of European descent that happens to be very common (approximately 42%) in African Americans. The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis.     

Approaches to identify and characterize microProteins and their potential uses in biotechnology

MicroProteins are small proteins that contain a single protein domain and are related to larger, often multi-domain proteins. At the molecular level, microProteins act by interfering with the formation of higher order protein complexes. In the past years, several microProteins have been identified in plants and animals that strongly influence biological processes. Due to their ability to act as dominant regulators in a targeted manner, microProteins have a high potential for biotechnological use. In this review, we present different ways in which microProteins are generated and we elaborate on techniques used to identify and characterize them. Finally, we give an outlook on possible applications in biotechnology.     

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, characterized respectively by a high or low number of somatic hypermutations in the variable region of immunoglobulin genes. The molecular changes leading to the pathogenesis of the disease are still poorly understood. Here we performed whole-genome sequencing of four cases of CLL and identified 46 somatic mutations that potentially affect gene function. Further analysis of these mutations in 363 patients with CLL identified four genes that are recurrently mutated: notch 1 (NOTCH1), exportin 1 (XPO1), myeloid differentiation primary response gene 88 (MYD88) and kelch-like 6 (KLHL6). Mutations in MYD88 and KLHL6 are predominant in cases of CLL with mutated immunoglobulin genes, whereas NOTCH1 and XPO1 mutations are mainly detected in patients with unmutated immunoglobulins. The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease. To our knowledge, this is the first comprehensive analysis of CLL combining whole-genome sequencing with clinical characteristics and clinical outcomes. It highlights the usefulness of this approach for the identification of clinically relevant mutations in cancer.     

Frequency-dependent mating success among mutant ebony ofDrosophila melanogaster

Summary Measurements of the mating success of wild and ebony strains ofD. melanogaster with different degrees of competition have shown a frequency-dependent effect in both cases, but with a negative correlation for the wild and a positive correlation for the ebony strain.Supported by FAPESP Grant No. 70/049.     

Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals.

Type 1 or insulin-dependent diabetes mellitus (IDDM) is an autoimmune disease of the insulin-producing pancreatic beta-cells which is determined by both genetic and environmental factors. The major histocompatibility complex and the insulin gene region (INS) on human chromosomes 6p and 11p, respectively, contain susceptibility genes. Using a mostly French data set, evidence for linkage of INS to IDDM was recently obtained but only in male meioses (suggesting involvement of maternal imprinting) and only in HLA-DR4-positive diabetics. In contrast, we find evidence for linkage in both male and female meioses and that the effect of the susceptibility gene(s) in the INS region is not dependent on the presence of HLA-DR4.