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. 2002 Dec 24;99(26):17008-13.
doi: 10.1073/pnas.262658799. Epub 2002 Dec 9.

Associations between human disease genes and overlapping gene groups and multiple amino acid runs

Samuel Karlin  1 , Chingfer Chen, Andrew J Gentles, Michael Cleary
Affiliations

Associations between human disease genes and overlapping gene groups and multiple amino acid runs

Samuel Karlin et al. Proc Natl Acad Sci U S A. .

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.

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Figures

Fig 1.
Fig 1.
Examples of OGGs in Chrs 21 and 22.
See this image and copyright information in PMC

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