General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations.

摘要: Genetic variations in olfactory receptors likely contribute to the diversity of odorant-specific sensitivity phenotypes. Our working hypothesis is that genetic auxiliary genes, including those mediating transduction and sensory neuronal development, may constitute basis for general (GOS) congenital anosmia (CGA). We thus performed a systematic exploration genes their documented variation. This included literature survey, seeking relevant functional vitro studies, mouse gene knockouts human disorders with phenotypes, as well data mining published transcriptome proteome expressed tissues. In addition, we next-generation sequencing (RNA-seq) epithelium bulb, so identify sensory-enriched transcripts. Employing global score system based on attributes 11 sources utilized, identified list 1,680 candidate which 450 are shortlisted having higher probability role. For top-scoring 136 genomic variants (probably damaging single nucleotide polymorphisms, indels, copy number deletions) gleaned from public variation repositories. database should assist rationalizing great interindividual overall (http://genome.weizmann.ac.il/GOSdb).