Birds are the best-known animal class, with only about five or six new
species descriptions per year since 1999. Integrating genomic and phenotypic
research with arduous fieldwork in remote regions, we describe five new songbird
species and five new subspecies from a small area near Sulawesi, Indonesia, all
collected in a single 6-week expedition. Two factors contributed to the
description of this large number of species from such a small geographic area: (i)
Knowledge of Quaternary Period land connections helped pinpoint isolated islands
likely to harbor substantial endemism and (ii) studying accounts of historic
collectors such as Alfred Wallace facilitated the identification of undercollected
islands. Our findings suggest that humans’ understanding of biogeographically
complex regions such as Wallacea remains incomplete.
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Genetics crucially contributes to cardiovascular diseases (CVDs), the global leading cause of death. Since the majority of CVDs can be prevented by early intervention there is a high demand for the identification of predictive causative genes. While genome wide association studies (GWAS) correlate genes and CVDs after diagnosis and provide a valuable resource for such causative candidate genes, often preferentially those with previously known or suspected function are addressed further. To tackle the unaddressed blind spot of understudied genes, we particularly focused on the validation of human heart phenotype-associated GWAS candidates with little or no apparent connection to cardiac function. Building on the conservation of basic heart function and underlying genetics from fish to human we combined CRISPR/Cas9 genome editing of the orthologs of human GWAS candidates in isogenic medaka with automated high-throughput heart rate analysis. Our functional analyses of understudied human candidates uncovered a prominent fraction of heart rate associated genes from adult human patients impacting on the heart rate in embryonic medaka already in the injected generation. Following this pipeline, we identified 16 GWAS candidates with potential diagnostic and predictive power for human CVDs.
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