Intergenic disease-associated regions are abundant in novel transcripts

Background Genotyping of large populations through genome-wide association studies (GWAS) has successfully identified many genomic variants associated with traits or disease risk. Unexpectedly, a large proportion of GWAS single nucleotide polymorphisms (SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functional evaluation. While some of these risk-susceptibility regions encompass cis-regulatory sites, their transcriptional potential has never been systematically explored. Results To detect rare tissue-specific expression, we employed the transcript-enrichment method CaptureSeq on 21 human tissues to identify 1775 multi-exonic transcripts from 561 intronic and intergenic haploblocks associated with 392 traits and diseases, covering 73.9 Mb (2.2%) of the human genome. We show that a large proportion (85%) of disease-associated haploblocks express novel multi-exonic non-coding transcripts that are tissue-specific and enriched for GWAS SNPs as well as epigenetic markers of active transcription and enhancer activity. Similarly, we captured transcriptomes from 13 melanomas, targeting nine melanoma-associated haploblocks, and characterized 31 novel melanoma-specific transcripts that include fusion proteins, novel exons and non-coding RNAs, one-third of which showed allelically imbalanced expression. Conclusions This resource of previously unreported transcripts in disease-associated regions (http://gwas-captureseq.dingerlab.org) should provide an important starting point for the translational community in search of novel biomarkers, disease mechanisms, and drug targets. </div

Reproduction of Phylloderma stenops in captivity (Chiroptera, Phyllostomidae)

A reproductive colony of Phylloderma stenops was established in captivity. The bats were maintained in 1/2" wired screen cages sized 90 × 60 × 80 cm in a room with cycles of 13 hours of light and 11 hours of dark and with temperature and humidity ranging from 27 to 31 °C and 75 to 90% respectively. Bats were fed with a semi-liquid diet composed of chopped fruits, raw eggs, bovine meat, dog food, honey, dehydrated shrimp, salt and a vitamin and mineral complex offered daily. In the first two years of confinement the diet was complemented with laboratory-raised cockroaches, mealworms, young mice and seasonal fruits. Nine births occurred from three wild caught females 770-1050 days after capture and two captive-born females. Births occurred in September, February and November-December. The neonate measured 15.0 g of weight and present 34.1 mm of forearm length. Two captive-born females gave birth for the first time at 402-445 days of age. Phylloderma stenops species presents postpartum oestrus, gestation of 5.5 months, lactation of 3.3 months and sexual maturity at 8.0-8.5 months. Fetuses are palpable around two months before birth and females may present synchronisation of births