Oculocutaneous albinism (OCA) is a group of four autosomal recessive disorders caused by either a complete lack or a reduction of melanin biosynthesis in the melanocytes resulting in hypopigmentation of the hair, skin and eyes. Reduction of melanin in the eyes results in reduced visual acuity caused by foveal hypoplasia and misrouting of the optic nerve fibres. The clinical spectrum of OCA varies, with OCA1A being the most severe type characterized by a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. The different types of OCA are caused by mutations in different genes but the clinical phenotype is not always distinguishable, making molecular diagnosis a useful tool and essential for genetic counseling.
Lewin's Essential Genes 3rd Pdf Download
The internal mapping of unique gene symbol identifiers to canonical gene symbols allows for an ambiguous gene property search. The database is organised within core and feature tables, which makes it straightforward to extend for future purposes. The database design is ready to be applied to other taxa or biological processes. Currently, the database contains 1170 distinct avian immune genes with canonical gene symbols and 612 synonyms across 363 bird species. While the command-line interface readily integrates into bioinformatics pipelines, the intuitive web front-end with download functionality offers sophisticated search functionalities and tracks the origin for each record. Avimm is publicly accessible at
Some immune genes are either completely missing in birds or are only present in particular species [21] and immune gene families have different orthologues between species, for example, the numbers and types of cytokines and chemokines [22]. It is therefore important that we have a means of cataloguing and a tool for searching these essential genes in avian species.
Currently, the database contains evidence for avian immune genes from Ensembl, UniProt and B10K. Avimm strives to become a one-stop resource for avian immunogenomics to facilitate studies in comparative genomics, studies looking into functional variation and the molecular evolution of immune genes and their pathways on whole-genome level [38], as well as an entry point for immune gene expression experiments in birds [39] (Fig. 1). Avimm can be searched by gene symbols and species through the web interface or query script, and the results (lists, annotations, nucleotide and amino acid sequences) can be readily downloaded in various formats.
An essential feature of the relational database design is the internal mapping of genes and identifiers to unique identifiers through uids and gene_ids. This allows the resolution of many-to-many relationships and, in consequence, is the foundation for allowing queries based on any well-known gene symbol for a single gene.
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