Identifying Cis-Regulatory Elements Around The ARMS2 Locus
A short region of the human genome on chromosome 10 is involved in the development of age-related macular degeneration (AMD). Patients that carry certain DNA changes in this region have an increased likelihood of developing AMD. However, the specific cause of this increased risk is unknown.
Dr. Joseph Corbo and colleagues have taken a combined computational and experimental approach to study this region of chromosome 10 which contains two genes— ARMS2 and HTRA1. These researchers have identified DNA patches around these genes which control the expression of HTRA1 in certain support cells within the retina, known as Müller glia. These DNA patches are known as “cis-regulatory elements.” However, patient-associated DNA sequence or “spelling” changes in these elements did not significantly affect expression of the HTRA1 gene in customized assays. Nevertheless, Dr. Corbo's results suggest a possible role for Müller glia in the risk for developing AMD. This finding is important because until now Müller glia cells have not been implicated in AMD despite their key structural and functional roles in the human retina.
Corbo JC, Lawrence KA, Karlstetter M, Myers CA, Abdelaziz M, Dirkes W, Weigelt K, Seifert M, Benes V, Fritsche LG, Weber BH, Langmann T. CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. Genome Res. 2010 Aug 6.
First published on: April 15, 2009
Last modified on: April 7, 2011