title: Human chromosome 21/Down syndrome gene function and pathway database.
abstract: Down syndrome, trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. Correlating the increased expression, due to gene dosage, of the >300 genes encoded by chromosome 21 with specific phenotypic features is a goal that becomes more feasible with the increasing availability of large scale functional, expression and evolutionary data. These data are dispersed among diverse databases, and the variety of formats and locations, plus their often rapid growth, makes access and assimilation a daunting task. To aid the Down syndrome and chromosome 21 community, and researchers interested in the study of any chromosome 21 gene or ortholog, we are developing a comprehensive chromosome 21-specific database with the goals of (i) data consolidation, (ii) accuracy and completeness through expert curation, and (iii) facilitation of novel hypothesis generation. Here we describe the current status of data collection and the immediate future plans for this first human chromosome-specific database.
authors.affiliation: Eleanor Roosevelt Institute at the University of Denver, 1899 Gaylord Street, Denver, CO 80206, USA.
authors.forename: Oleksii
authors.initials: O
authors.lastname: Nikolaienko
authors.forename: Cao
authors.initials: C
authors.lastname: Nguyen
authors.forename: Linda S
authors.initials: LS
authors.lastname: Crinc
authors.forename: Krzysztof J
authors.initials: KJ
authors.lastname: Cios
authors.forename: Katheleen
authors.initials: K
authors.lastname: Gardiner
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000737:chemistry; D030561:Databases, Nucleic Acid; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D020407:Internet; D008969:Molecular Sequence Data; D012313:RNA / Q000235:genetics
chemical_list: D012313:RNA