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Requirement Analysis Result.pdf — Requirement Analysis Result. Detailed description of requirement analysis for user, task and context for s ·nr. (PDF 179 kb)

Interview Structure & Questionnaire.pdf — Interview structure and questionnaire. Detailed protocol on the questionnaire and structure guiding the interviews with the domain experts to assess requirements for s ·nr. (PDF 126 kb)

Setup snr.pdf — Instructions for setting up s ·nr. Detailed instructions on how to setup a s ·nr instance. (PDF 259 kb)

Data format.pdf — s ·nr data format. Detailed data format information used in s ·nr. (PDF 140 kb)

Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice.

Comparison of log2-transformed expression from qRT-PCR for a subset of 18 up- or downregulated genes from the transcriptome dataset normalised to ACTIN2 expression and the log2 (relative expression) from RNA-seq. (DOC 150Â kb)

Primer sequences and list of genes used for real-time PCR expression analysis. (DOCX 147Â kb)

Background Despite its status as a model organism, the development of Caenorhabditis elegans is not necessarily archetypical for nematodes. The phylum Nematoda is divided into the Chromadorea (indcludes C. elegans) and the Enoplea. Compared to C. elegans, enoplean nematodes have very different patterns of cell division and determination. Embryogenesis of the enoplean Romanomermis culicivorax has been studied in great detail, but the genetic circuitry underpinning development in this species is unknown. Results We created a draft genome of R. culicivorax and compared its developmental gene content with that of two nematodes, C. elegans and Trichinella spiralis (another enoplean), and a representative arthropod Tribolium castaneum. This genome evidence shows that R. culicivorax retains components of the conserved metazoan developmental toolkit lost in C. elegans. T. spiralis has independently lost even more of the toolkit than has C. elegans. However, the C. elegans toolkit is not simply depauperate, as many genes essential for embryogenesis in C. elegans are unique to this lineage, or have only extremely divergent homologues in R. culicivorax and T. spiralis. These data imply fundamental differences in the genetic programmes for early cell specification, inductive interactions, vulva formation and sex determination. Conclusions Thus nematodes, despite their apparent phylum-wide morphological conservatism, have evolved major differences in the molecular logic of their development. R. culicivorax serves as a tractable, contrasting model to C. elegans for understanding how divergent genomic and thus regulatory backgrounds can generate a conserved phenotype. The availability of the draft genome will promote use of R. culicivorax as a research model., Comment: 34 pages (raw), 5 figures, 5 Supplementary Files by request, submitted for review