New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Data from: Four decades of cultural evolution in House Finch songs

Bird song is the primary animal model system for cultural evolution. Longitudinal studies of bird song across many generations can provide insights into patterns and mechanisms of change in socially transmitted traits. In this study, we conducted a comparative analysis of songs of the House Finch (Haemorhous mexicanus) across an interval of 37 years (in 1975 and in 2012). Recordings from both years were collected in western Long Island, New York, which is thought to be the initial site of introduction of the House Finch around 1940 from the West Coast. Song types experienced a complete turnover during this period, although half of the syllable types were represented in both samples. Song length, frequency bandwidth and several other spectrographic features were the same in both years, and no structural features predicted recurrence of individual syllables. Consistent with the fact that our study population expanded substantially following a cultural founder effect, song and syllable sharing and similarity between individuals were lower in 2012 than in 1975, reflecting an increase in song diversity at the population level. However, in the more recent sample individual songs had fewer syllables, and were sung with less sequence stereotypy across renditions than in the earlier sample. Syllable prevalence in 2012 was associated both with complexity (as gauged by frequency excursion) and increased minimum frequency. Thus, over nearly 4 decades, Eastern House Finch songs remained structurally similar at the whole-song level, diversified between individuals, but became simpler and less consistent within an individual

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1. DSG1 encodes desmoglein 1, a major constituent of desmosomes, which connect the cell surface to the keratin cytoskeleton and play a crucial role in maintaining epidermal integrity and barrier function. SAM syndrome-causing mutations resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion. In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines. The deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect