title: Associations between human disease genes and overlapping gene groups and multiple amino acid runs.
abstract: Overlapping gene groups (OGGs) arise when exons of one gene are contained within the introns of another. Typically, the two overlapping genes are encoded on opposite DNA strands. OGGs are often associated with specific disease phenotypes. In this report, we identify genes with OGG architecture and genes encoding multiple long amino acid runs and examine their relations to diseases. OGGs appear to be susceptible to genomic rearrangements as happens commonly with the loci of the DiGeorge syndrome on human chromosome 22. We also examine the degree of conservation of OGGs between human and mouse. Our analyses suggest that (i) a high proportion of genes in OGG regions are disease-associated, (ii) genomic rearrangements are likely to occur within OGGs, possibly as a consequence of anomalous sequence features prevalent in these regions, and (iii) multiple amino acid runs are also frequently associated with pathologies.
authors.affiliation: Departments of Mathematics and Pathology, Stanford University, Stanford, CA 94305, USA. karlin@math.stanford.edu
authors.forename: Samuel
authors.initials: S
authors.lastname: Karlin
authors.forename: Chingfer
authors.initials: C
authors.lastname: Chen
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Gentles
authors.forename: Michael
authors.initials: M
authors.lastname: Cleary
mesh_terms: D000596:Amino Acids / Q000235:genetics*; D000818:Animals; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005091:Exons; D015321:Gene Rearrangement; D005807:Genes, Overlapping; D006801:Humans; D007438:Introns; D051379:Mice
chemical_list: D000596:Amino Acids